VPS33A

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)5.88773371
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.67255385
3synaptic vesicle docking involved in exocytosis (GO:0016081)5.31841766
4locomotory exploration behavior (GO:0035641)5.13610350
5synaptic vesicle exocytosis (GO:0016079)5.12755252
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.01741764
7glutamate secretion (GO:0014047)4.96901309
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.89420139
9vocalization behavior (GO:0071625)4.74231532
10regulation of synaptic vesicle exocytosis (GO:2000300)4.61295726
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.48730719
12proteasome assembly (GO:0043248)4.45303142
13regulation of synapse structural plasticity (GO:0051823)4.44289805
14protein localization to synapse (GO:0035418)4.31791149
15regulation of glutamate receptor signaling pathway (GO:1900449)4.28778419
16regulation of synaptic vesicle transport (GO:1902803)4.18500341
17layer formation in cerebral cortex (GO:0021819)4.17572070
18exploration behavior (GO:0035640)4.15572401
19proline transport (GO:0015824)4.13798982
20neurotransmitter secretion (GO:0007269)4.10573243
21neuronal action potential propagation (GO:0019227)3.97921831
22neurotransmitter-gated ion channel clustering (GO:0072578)3.97674803
23positive regulation of synapse maturation (GO:0090129)3.97444250
24protein neddylation (GO:0045116)3.92406173
25gamma-aminobutyric acid transport (GO:0015812)3.88939054
26purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)3.82571554
27negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.81342521
28somatic diversification of immune receptors via somatic mutation (GO:0002566)3.80802983
29somatic hypermutation of immunoglobulin genes (GO:0016446)3.80802983
30nucleobase biosynthetic process (GO:0046112)3.80573058
31tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.80296859
32RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.80296859
33sodium ion export (GO:0071436)3.79002449
34purine nucleobase biosynthetic process (GO:0009113)3.77957014
35cellular potassium ion homeostasis (GO:0030007)3.77473769
36activation of protein kinase A activity (GO:0034199)3.72763562
37regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.72062839
38somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.71633346
39somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.71633346
40isotype switching (GO:0045190)3.71633346
41cullin deneddylation (GO:0010388)3.68852163
42ionotropic glutamate receptor signaling pathway (GO:0035235)3.67600140
43membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.67472397
44DNA replication checkpoint (GO:0000076)3.65422821
45regulation of neuronal synaptic plasticity (GO:0048168)3.63740548
46chromatin remodeling at centromere (GO:0031055)3.58737026
47regulation of long-term neuronal synaptic plasticity (GO:0048169)3.55611614
48IMP biosynthetic process (GO:0006188)3.50500354
49regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.48069183
50protein deneddylation (GO:0000338)3.45866884
51mitochondrial respiratory chain complex assembly (GO:0033108)3.42114538
52negative regulation of ligase activity (GO:0051352)3.41463454
53negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.41463454
54positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.41194740
55tolerance induction (GO:0002507)3.40734156
56RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.39931098
57negative regulation of synaptic transmission, GABAergic (GO:0032229)3.37737568
58CENP-A containing nucleosome assembly (GO:0034080)3.37597170
59regulation of clathrin-mediated endocytosis (GO:2000369)3.36317820
60neuromuscular process controlling balance (GO:0050885)3.36122346
61synaptic vesicle endocytosis (GO:0048488)3.34687313
62protein complex biogenesis (GO:0070271)3.33543619
63regulation of cellular amino acid metabolic process (GO:0006521)3.33542559
64neuron cell-cell adhesion (GO:0007158)3.33108700
65establishment of protein localization to mitochondrial membrane (GO:0090151)3.31383639
66synaptic transmission, glutamatergic (GO:0035249)3.31096989
67cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.30270262
68negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.29939706
69deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.29772029
70long-term memory (GO:0007616)3.29369812
71establishment of viral latency (GO:0019043)3.28670131
72regulation of ARF protein signal transduction (GO:0032012)3.28492527
73glutamate receptor signaling pathway (GO:0007215)3.26903222
74mitochondrial RNA metabolic process (GO:0000959)3.25719689
75alanine transport (GO:0032328)3.25549944
76regulation of excitatory postsynaptic membrane potential (GO:0060079)3.25095260
77signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.23619575
78signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.23619575
79signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.23619575
80dendrite morphogenesis (GO:0048813)3.23447473
81DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.21382959
82positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.21290825
83peptidyl-histidine modification (GO:0018202)3.20756410
84regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.20235487
85regulation of mitotic spindle checkpoint (GO:1903504)3.20235487
86positive regulation of membrane potential (GO:0045838)3.19490725
87vesicle transport along microtubule (GO:0047496)3.18710130
88neurotransmitter transport (GO:0006836)3.18529868
89G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.18105810
90intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.16499204
91signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.16499204
92anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.16083943
93mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.15376066
94mitochondrial respiratory chain complex I assembly (GO:0032981)3.15376066
95NADH dehydrogenase complex assembly (GO:0010257)3.15376066
96neuron-neuron synaptic transmission (GO:0007270)3.14752935
97establishment of integrated proviral latency (GO:0075713)3.14140526
98regulation of dendritic spine morphogenesis (GO:0061001)3.12975793
99maturation of 5.8S rRNA (GO:0000460)3.10745001
100DNA double-strand break processing (GO:0000729)3.10467143
101negative regulation of DNA-dependent DNA replication (GO:2000104)3.09880605
102glycine transport (GO:0015816)3.09601433
103regulation of synaptic plasticity (GO:0048167)3.09535890
104signal transduction involved in DNA damage checkpoint (GO:0072422)3.09070268
105signal transduction involved in DNA integrity checkpoint (GO:0072401)3.09070268
106exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.08175273
107nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.07349541
108signal transduction involved in cell cycle checkpoint (GO:0072395)3.06783136
109cell communication by electrical coupling (GO:0010644)3.05760356
110regulation of postsynaptic membrane potential (GO:0060078)3.05695948
111membrane depolarization during action potential (GO:0086010)3.05322655
112DNA strand elongation involved in DNA replication (GO:0006271)3.02692355
113adenosine metabolic process (GO:0046085)3.02272143
114transcription elongation from RNA polymerase III promoter (GO:0006385)3.02188182
115termination of RNA polymerase III transcription (GO:0006386)3.02188182
116neuromuscular process controlling posture (GO:0050884)3.00875238
117regulation of neurotransmitter levels (GO:0001505)3.00554613
118protein K11-linked deubiquitination (GO:0035871)3.00476102
119water-soluble vitamin biosynthetic process (GO:0042364)2.99407540
120regulation of neurotransmitter secretion (GO:0046928)2.96729216
121L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.96129833
122organelle transport along microtubule (GO:0072384)2.95926711
123spliceosomal snRNP assembly (GO:0000387)2.95747057
124long-term synaptic potentiation (GO:0060291)2.95237396
125prepulse inhibition (GO:0060134)2.94508637
126cerebellar Purkinje cell differentiation (GO:0021702)2.93699264
127regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.93569063
128dendritic spine morphogenesis (GO:0060997)2.93526862
129regulation of synapse maturation (GO:0090128)2.93141861
130ATP synthesis coupled proton transport (GO:0015986)2.92803109
131energy coupled proton transport, down electrochemical gradient (GO:0015985)2.92803109
132replication fork processing (GO:0031297)2.92331363
133regulation of synaptic transmission, glutamatergic (GO:0051966)2.92200377
134positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.89678378
135somatic recombination of immunoglobulin gene segments (GO:0016447)2.89184207
136ubiquinone biosynthetic process (GO:0006744)2.88236629
137ubiquinone metabolic process (GO:0006743)2.87827524
138neuron recognition (GO:0008038)2.87637709
139positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.87284783
140telomere maintenance via semi-conservative replication (GO:0032201)2.86641369
141IMP metabolic process (GO:0046040)2.86587926
142clathrin coat assembly (GO:0048268)2.86180939
143regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)2.85855614
144histone exchange (GO:0043486)2.85151952
145respiratory chain complex IV assembly (GO:0008535)2.82538813
146DNA strand elongation (GO:0022616)2.82139364
147rRNA modification (GO:0000154)2.81627055
148tRNA metabolic process (GO:0006399)2.81254323
149amino acid activation (GO:0043038)2.80074321
150tRNA aminoacylation (GO:0043039)2.80074321
151regulation of mitochondrial translation (GO:0070129)2.79224766
152L-amino acid import (GO:0043092)2.78847059
153positive regulation of fibroblast migration (GO:0010763)2.78758294
154somatic diversification of immunoglobulins (GO:0016445)2.78418515
155mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.78369339
156regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.77946219
157positive regulation of ligase activity (GO:0051351)2.77537701
158pseudouridine synthesis (GO:0001522)2.77448170
159tRNA aminoacylation for protein translation (GO:0006418)2.76994889
160DNA deamination (GO:0045006)2.76377909
161gamma-aminobutyric acid signaling pathway (GO:0007214)2.76333631
162response to auditory stimulus (GO:0010996)2.76056254
163membrane depolarization (GO:0051899)2.75629510
164tRNA processing (GO:0008033)2.74625334
165positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.74432398
166establishment of nucleus localization (GO:0040023)2.74351280
167mating behavior (GO:0007617)2.74210335
168DNA catabolic process, exonucleolytic (GO:0000738)2.71876107
169cell migration in hindbrain (GO:0021535)2.70007741
170AMP metabolic process (GO:0046033)2.69793930
171axonal fasciculation (GO:0007413)2.69338876
172innervation (GO:0060384)2.69286830
173histone mRNA metabolic process (GO:0008334)2.68812141
174regulation of neurotransmitter transport (GO:0051588)2.67991851
175protein K6-linked ubiquitination (GO:0085020)2.67628483
176folic acid-containing compound biosynthetic process (GO:0009396)2.67563735
177transcription from RNA polymerase III promoter (GO:0006383)2.67267956
178positive regulation of uterine smooth muscle contraction (GO:0070474)2.67169281
179cerebellar Purkinje cell layer development (GO:0021680)2.67030102
180regulation of voltage-gated calcium channel activity (GO:1901385)2.66408232
181dicarboxylic acid biosynthetic process (GO:0043650)2.66361513
182negative regulation of DNA recombination (GO:0045910)2.66357839
183regulation of centriole replication (GO:0046599)2.66217636
184potassium ion import (GO:0010107)2.65746968
185neuromuscular process (GO:0050905)2.65455806
186positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)2.65425511
187cerebellar granule cell differentiation (GO:0021707)2.64628910
188DNA replication-independent nucleosome organization (GO:0034724)2.63542611
189DNA replication-independent nucleosome assembly (GO:0006336)2.63542611
190regulation of dendritic spine development (GO:0060998)2.62703975
191cytochrome complex assembly (GO:0017004)2.62347749
192nerve growth factor signaling pathway (GO:0038180)2.61515736
193intraspecies interaction between organisms (GO:0051703)2.61146929
194social behavior (GO:0035176)2.61146929
195regulation of vesicle fusion (GO:0031338)2.59945323
196L-glutamate transport (GO:0015813)2.59548590
197adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.58957971
198positive regulation of synaptic transmission (GO:0050806)2.58476169
199dopamine receptor signaling pathway (GO:0007212)2.58251796
200acidic amino acid transport (GO:0015800)2.57396228

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.94919406
2EZH2_22144423_ChIP-Seq_EOC_Human4.60838463
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.58104260
4E2F7_22180533_ChIP-Seq_HELA_Human4.16440561
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.99029866
6* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.49440341
7ETS1_20019798_ChIP-Seq_JURKAT_Human3.15863337
8HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.12092135
9CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.05191939
10CREB1_15753290_ChIP-ChIP_HEK293T_Human3.02972076
11RARB_27405468_Chip-Seq_BRAIN_Mouse3.02517195
12MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.01540896
13E2F4_17652178_ChIP-ChIP_JURKAT_Human2.93461666
14DROSHA_22980978_ChIP-Seq_HELA_Human2.85374139
15NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.81400218
16VDR_23849224_ChIP-Seq_CD4+_Human2.80203577
17MYC_18555785_ChIP-Seq_MESCs_Mouse2.79127041
18SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.79124018
19GBX2_23144817_ChIP-Seq_PC3_Human2.75760482
20* REST_21632747_ChIP-Seq_MESCs_Mouse2.70091739
21ELK1_19687146_ChIP-ChIP_HELA_Human2.66609859
22SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.53132211
23* FOXP3_21729870_ChIP-Seq_TREG_Human2.50873269
24MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.47667861
25RNF2_18974828_ChIP-Seq_MESCs_Mouse2.40262278
26EZH2_18974828_ChIP-Seq_MESCs_Mouse2.40262278
27JARID2_20064375_ChIP-Seq_MESCs_Mouse2.40255417
28* REST_18959480_ChIP-ChIP_MESCs_Mouse2.39507374
29SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.37670178
30MTF2_20144788_ChIP-Seq_MESCs_Mouse2.34885252
31NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.33507381
32EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.26527344
33SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.26495365
34IKZF1_21737484_ChIP-ChIP_HCT116_Human2.23941080
35ELF1_17652178_ChIP-ChIP_JURKAT_Human2.22885101
36JARID2_20075857_ChIP-Seq_MESCs_Mouse2.19703075
37* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.16485320
38GABP_19822575_ChIP-Seq_HepG2_Human2.16441303
39MYC_19030024_ChIP-ChIP_MESCs_Mouse2.15083244
40* SRF_21415370_ChIP-Seq_HL-1_Mouse2.13643892
41SALL1_21062744_ChIP-ChIP_HESCs_Human2.08847287
42FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.08673107
43PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.08255655
44SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.06857188
45SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.06463718
46NELFA_20434984_ChIP-Seq_ESCs_Mouse2.05076818
47MYC_18358816_ChIP-ChIP_MESCs_Mouse2.03123383
48NOTCH1_21737748_ChIP-Seq_TLL_Human1.99532203
49HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.99326649
50* DCP1A_22483619_ChIP-Seq_HELA_Human1.99172261
51E2F1_18555785_ChIP-Seq_MESCs_Mouse1.93169936
52THAP11_20581084_ChIP-Seq_MESCs_Mouse1.89289804
53PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.89289763
54FLI1_27457419_Chip-Seq_LIVER_Mouse1.89120065
55HOXB4_20404135_ChIP-ChIP_EML_Mouse1.88697317
56CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.88549821
57PADI4_21655091_ChIP-ChIP_MCF-7_Human1.86315300
58E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.83865534
59EZH2_27294783_Chip-Seq_ESCs_Mouse1.82696819
60SUZ12_27294783_Chip-Seq_ESCs_Mouse1.81714520
61ERG_21242973_ChIP-ChIP_JURKAT_Human1.77205997
62GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.77199972
63EZH2_27304074_Chip-Seq_ESCs_Mouse1.76886452
64RNF2_27304074_Chip-Seq_ESCs_Mouse1.74440898
65* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.71938606
66EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.69711367
67DNAJC2_21179169_ChIP-ChIP_NT2_Human1.69088971
68CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.68298580
69MYC_19079543_ChIP-ChIP_MESCs_Mouse1.68109914
70MYC_18940864_ChIP-ChIP_HL60_Human1.67845700
71GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.63306329
72VDR_22108803_ChIP-Seq_LS180_Human1.62342586
73* TTF2_22483619_ChIP-Seq_HELA_Human1.62169411
74AR_21572438_ChIP-Seq_LNCaP_Human1.60539020
75ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.60433972
76KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.59728566
77EED_16625203_ChIP-ChIP_MESCs_Mouse1.59114801
78TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.57613547
79KDM2B_26808549_Chip-Seq_K562_Human1.55964199
80EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.55678951
81IRF1_19129219_ChIP-ChIP_H3396_Human1.55545054
82FOXM1_23109430_ChIP-Seq_U2OS_Human1.54199584
83EWS_26573619_Chip-Seq_HEK293_Human1.51225738
84* XRN2_22483619_ChIP-Seq_HELA_Human1.50993717
85MYCN_18555785_ChIP-Seq_MESCs_Mouse1.50493725
86SOX2_21211035_ChIP-Seq_LN229_Gbm1.50176043
87ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.48546293
88ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.45291488
89SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.44786912
90KDM5A_27292631_Chip-Seq_BREAST_Human1.44463992
91THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.43285104
92SMAD4_21799915_ChIP-Seq_A2780_Human1.42036219
93MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.40908592
94ZFP281_18757296_ChIP-ChIP_E14_Mouse1.40786422
95YY1_21170310_ChIP-Seq_MESCs_Mouse1.40714820
96PCGF2_27294783_Chip-Seq_ESCs_Mouse1.40341043
97NR3C1_23031785_ChIP-Seq_PC12_Mouse1.40094256
98VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.37780514
99SMAD_19615063_ChIP-ChIP_OVARY_Human1.37030082
100* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.32383010
101* AR_19668381_ChIP-Seq_PC3_Human1.30638923
102HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.30201860
103WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.27868103
104CTBP2_25329375_ChIP-Seq_LNCAP_Human1.26442246
105BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.26167397
106* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.25395070
107ZNF274_21170338_ChIP-Seq_K562_Hela1.24257767
108FUS_26573619_Chip-Seq_HEK293_Human1.22569278
109WT1_25993318_ChIP-Seq_PODOCYTE_Human1.22028039
110CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.21657326
111SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.20797075
112KDM2B_26808549_Chip-Seq_SUP-B15_Human1.20436933
113TP53_22573176_ChIP-Seq_HFKS_Human1.17785858
114PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.17506412
115E2F1_21310950_ChIP-Seq_MCF-7_Human1.17223999
116MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.17142865
117CTBP1_25329375_ChIP-Seq_LNCAP_Human1.16756885
118CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.14214376
119PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.13237440
120SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.13017525
121* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.12969578
122DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.11648011
123EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.10317440
124IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.09243673
125ERG_20887958_ChIP-Seq_HPC-7_Mouse1.09089086
126POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.08583895
127SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.08391257
128* AR_25329375_ChIP-Seq_VCAP_Human1.06881808
129STAT3_23295773_ChIP-Seq_U87_Human1.06398665
130FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.06168072
131AHR_22903824_ChIP-Seq_MCF-7_Human1.06076035
132ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.04630062
133* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.04377676
134* FOXA1_25329375_ChIP-Seq_VCAP_Human1.04377676
135RING1B_27294783_Chip-Seq_ESCs_Mouse1.04347052
136TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03789140
137TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.03271392
138* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.02044406
139ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01952628
140ARNT_22903824_ChIP-Seq_MCF-7_Human1.01690373
141LXR_22292898_ChIP-Seq_THP-1_Human1.01092209
142ZFP281_27345836_Chip-Seq_ESCs_Mouse1.00793013
143SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.99858504
144* HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.99636621
145TET1_21490601_ChIP-Seq_MESCs_Mouse0.98423401
146NANOG_16153702_ChIP-ChIP_HESCs_Human0.98341299
147TP53_16413492_ChIP-PET_HCT116_Human0.97822592
148BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.97663814
149SMAD3_21741376_ChIP-Seq_EPCs_Human0.97361084
150CIITA_25753668_ChIP-Seq_RAJI_Human0.96768961
151CTNNB1_20460455_ChIP-Seq_HCT116_Human0.94793492
152SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.94172983
153TCF4_23295773_ChIP-Seq_U87_Human0.92880144
154ZFX_18555785_ChIP-Seq_MESCs_Mouse0.92126753
155SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.91872836
156CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.91628755
157* SMAD3_21741376_ChIP-Seq_ESCs_Human0.91435254
158* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91324639
159SMAD4_21741376_ChIP-Seq_HESCs_Human0.91269898
160NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.91104955
161* TFEB_21752829_ChIP-Seq_HELA_Human0.90683048
162YAP1_20516196_ChIP-Seq_MESCs_Mouse0.90441184
163POU3F2_20337985_ChIP-ChIP_501MEL_Human0.90397061
164P53_22127205_ChIP-Seq_FIBROBLAST_Human0.89986268
165SOX2_16153702_ChIP-ChIP_HESCs_Human0.89872394
166POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.89777341
167ELK1_22589737_ChIP-Seq_MCF10A_Human0.88494314
168SPI1_23127762_ChIP-Seq_K562_Human0.88321439
169TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.87711064
170KDM2B_26808549_Chip-Seq_DND41_Human0.87699045
171P300_19829295_ChIP-Seq_ESCs_Human0.87593501
172POU5F1_16153702_ChIP-ChIP_HESCs_Human0.87368387
173OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.87298332
174RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.87258592
175SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.86191178
176NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.85832696
177TAF15_26573619_Chip-Seq_HEK293_Human0.85536235
178FOXA2_19822575_ChIP-Seq_HepG2_Human0.85141792
179NANOG_18555785_ChIP-Seq_MESCs_Mouse0.85050530
180CDX2_19796622_ChIP-Seq_MESCs_Mouse0.84946945
181SMAD3_21741376_ChIP-Seq_HESCs_Human0.84898957
182GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.83329732
183CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.82911250
184KLF4_19829295_ChIP-Seq_ESCs_Human0.82615863
185ESR2_21235772_ChIP-Seq_MCF-7_Human0.82264662
186* TOP2B_26459242_ChIP-Seq_MCF-7_Human0.81935901
187RXR_22108803_ChIP-Seq_LS180_Human0.81746334
188KDM2B_26808549_Chip-Seq_JURKAT_Human0.81526991
189IGF1R_20145208_ChIP-Seq_DFB_Human0.81386870
190AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.80310627
191RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.79830802
192SOX2_18555785_ChIP-Seq_MESCs_Mouse0.79386090
193SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.79311312
194CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.78589332
195RBPJ_22232070_ChIP-Seq_NCS_Mouse0.77323571
196* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.76128173
197GATA3_26560356_Chip-Seq_TH2_Human0.73673401

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.53821535
2MP0003635_abnormal_synaptic_transmissio3.85584324
3MP0004270_analgesia3.72241464
4MP0008877_abnormal_DNA_methylation3.58991767
5MP0008058_abnormal_DNA_repair3.57663542
6MP0003880_abnormal_central_pattern3.48882730
7MP0010094_abnormal_chromosome_stability3.42576581
8MP0008007_abnormal_cellular_replicative3.33377898
9MP0001968_abnormal_touch/_nociception3.13953526
10MP0003693_abnormal_embryo_hatching3.12531450
11MP0002064_seizures3.07468223
12MP0002063_abnormal_learning/memory/cond3.06906833
13MP0009745_abnormal_behavioral_response3.03877122
14MP0009046_muscle_twitch2.99212371
15MP0002822_catalepsy2.90785971
16MP0003111_abnormal_nucleus_morphology2.90739320
17MP0009697_abnormal_copulation2.77210488
18MP0003890_abnormal_embryonic-extraembry2.64070644
19MP0002734_abnormal_mechanical_nocicepti2.57728786
20MP0002736_abnormal_nociception_after2.56747112
21MP0004957_abnormal_blastocyst_morpholog2.55382392
22MP0002735_abnormal_chemical_nociception2.50129294
23MP0002254_reproductive_system_inflammat2.48550737
24MP0004147_increased_porphyrin_level2.43503496
25MP0003195_calcinosis2.37442472
26MP0002572_abnormal_emotion/affect_behav2.34109480
27MP0006035_abnormal_mitochondrial_morpho2.28551278
28MP0009780_abnormal_chondrocyte_physiolo2.28393555
29MP0000569_abnormal_digit_pigmentation2.27057930
30MP0004858_abnormal_nervous_system2.20419862
31MP0003172_abnormal_lysosome_physiology2.14988227
32MP0001486_abnormal_startle_reflex2.14545434
33MP0002909_abnormal_adrenal_gland2.11350077
34MP0003329_amyloid_beta_deposits2.10188431
35MP0002272_abnormal_nervous_system2.10091424
36MP0008057_abnormal_DNA_replication2.06817271
37MP0001293_anophthalmia2.02494852
38MP0002938_white_spotting2.02021617
39MP0002733_abnormal_thermal_nociception2.01049296
40MP0003077_abnormal_cell_cycle2.00771702
41MP0008932_abnormal_embryonic_tissue1.95664572
42MP0005423_abnormal_somatic_nervous1.94347177
43MP0003718_maternal_effect1.93545548
44MP0004811_abnormal_neuron_physiology1.90371358
45MP0001440_abnormal_grooming_behavior1.89205287
46MP0002102_abnormal_ear_morphology1.83677295
47MP0003806_abnormal_nucleotide_metabolis1.81698896
48MP0002067_abnormal_sensory_capabilities1.81081742
49MP0005084_abnormal_gallbladder_morpholo1.80786614
50MP0001919_abnormal_reproductive_system1.80671882
51MP0001970_abnormal_pain_threshold1.79717809
52* MP0005075_abnormal_melanosome_morpholog1.78417780
53MP0000604_amyloidosis1.74531544
54MP0005174_abnormal_tail_pigmentation1.73709757
55MP0008569_lethality_at_weaning1.73672347
56MP0006292_abnormal_olfactory_placode1.70275229
57MP0004130_abnormal_muscle_cell1.66309807
58MP0005386_behavior/neurological_phenoty1.63790919
59MP0004924_abnormal_behavior1.63790919
60MP0008961_abnormal_basal_metabolism1.61532166
61MP0003011_delayed_dark_adaptation1.61503666
62MP0003633_abnormal_nervous_system1.59121307
63MP0001501_abnormal_sleep_pattern1.58519515
64MP0003303_peritoneal_inflammation1.58204823
65MP0006036_abnormal_mitochondrial_physio1.56339023
66MP0003690_abnormal_glial_cell1.56221234
67MP0006072_abnormal_retinal_apoptosis1.54700779
68MP0002184_abnormal_innervation1.47715174
69MP0002653_abnormal_ependyma_morphology1.44508230
70MP0000358_abnormal_cell_content/1.43487158
71MP0005253_abnormal_eye_physiology1.39573496
72MP0003186_abnormal_redox_activity1.38348076
73MP0003786_premature_aging1.37957920
74MP0000751_myopathy1.36882416
75MP0002557_abnormal_social/conspecific_i1.35691613
76MP0002066_abnormal_motor_capabilities/c1.35160254
77MP0000955_abnormal_spinal_cord1.33441347
78MP0005058_abnormal_lysosome_morphology1.33058033
79MP0001764_abnormal_homeostasis1.32752543
80MP0000778_abnormal_nervous_system1.30475659
81MP0002090_abnormal_vision1.29630843
82* MP0005408_hypopigmentation1.28376477
83MP0003879_abnormal_hair_cell1.27697571
84MP0000372_irregular_coat_pigmentation1.26707362
85MP0005389_reproductive_system_phenotype1.25606139
86MP0005167_abnormal_blood-brain_barrier1.24719162
87MP0003631_nervous_system_phenotype1.23328605
88MP0003567_abnormal_fetal_cardiomyocyte1.22707284
89MP0005535_abnormal_body_temperature1.22251562
90MP0003937_abnormal_limbs/digits/tail_de1.19910738
91MP0004133_heterotaxia1.15949573
92MP0002882_abnormal_neuron_morphology1.13806788
93MP0004510_myositis1.13126174
94MP0008874_decreased_physiological_sensi1.13107592
95MP0004885_abnormal_endolymph1.13047772
96MP0003121_genomic_imprinting1.11133650
97MP0004145_abnormal_muscle_electrophysio1.09334025
98MP0001929_abnormal_gametogenesis1.08901521
99MP0002210_abnormal_sex_determination1.08035650
100MP0003075_altered_response_to1.07967013
101MP0005380_embryogenesis_phenotype1.07527676
102MP0001672_abnormal_embryogenesis/_devel1.07527676
103MP0000013_abnormal_adipose_tissue1.06280230
104MP0002638_abnormal_pupillary_reflex1.05771775
105MP0003634_abnormal_glial_cell1.03960927
106MP0001730_embryonic_growth_arrest1.03858396
107MP0005391_vision/eye_phenotype1.03183284
108MP0001119_abnormal_female_reproductive1.03083452
109MP0001697_abnormal_embryo_size1.03062026
110MP0002837_dystrophic_cardiac_calcinosis1.02784323
111MP0000747_muscle_weakness0.99231985
112MP0002069_abnormal_eating/drinking_beha0.99126308
113MP0002229_neurodegeneration0.97346531
114MP0002095_abnormal_skin_pigmentation0.97149431
115MP0001145_abnormal_male_reproductive0.96686288
116MP0005646_abnormal_pituitary_gland0.95899930
117* MP0001324_abnormal_eye_pigmentation0.95230482
118MP0008875_abnormal_xenobiotic_pharmacok0.95211545
119MP0001984_abnormal_olfaction0.94653970
120MP0000313_abnormal_cell_death0.94518420
121MP0004142_abnormal_muscle_tone0.94269216
122MP0002084_abnormal_developmental_patter0.94213587
123MP0005671_abnormal_response_to0.93951822
124MP0000653_abnormal_sex_gland0.93557865
125MP0006276_abnormal_autonomic_nervous0.92060691
126MP0010329_abnormal_lipoprotein_level0.91830944
127MP0002139_abnormal_hepatobiliary_system0.90988118
128MP0001529_abnormal_vocalization0.90342049
129MP0002152_abnormal_brain_morphology0.89952884
130MP0001502_abnormal_circadian_rhythm0.88676931
131MP0005379_endocrine/exocrine_gland_phen0.88189832
132MP0000015_abnormal_ear_pigmentation0.88082883
133MP0003698_abnormal_male_reproductive0.86155784
134MP0001177_atelectasis0.85725455
135MP0005645_abnormal_hypothalamus_physiol0.85461715
136MP0002751_abnormal_autonomic_nervous0.84897738
137MP0003632_abnormal_nervous_system0.84602326
138MP0002088_abnormal_embryonic_growth/wei0.83684293
139MP0000920_abnormal_myelination0.83256864
140MP0005083_abnormal_biliary_tract0.82489881
141MP0003119_abnormal_digestive_system0.81048074
142MP0003984_embryonic_growth_retardation0.81033901
143MP0002019_abnormal_tumor_incidence0.79712120
144MP0000350_abnormal_cell_proliferation0.78096973
145MP0002085_abnormal_embryonic_tissue0.77475177
146MP0005187_abnormal_penis_morphology0.75590575
147MP0003183_abnormal_peptide_metabolism0.75163436
148MP0000647_abnormal_sebaceous_gland0.75151713
149MP0002163_abnormal_gland_morphology0.73511943
150MP0003763_abnormal_thymus_physiology0.73457098
151MP0010307_abnormal_tumor_latency0.73440544
152MP0008789_abnormal_olfactory_epithelium0.72976258
153MP0004233_abnormal_muscle_weight0.72590050
154MP0000703_abnormal_thymus_morphology0.72487204
155MP0003656_abnormal_erythrocyte_physiolo0.71217326
156MP0008872_abnormal_physiological_respon0.70798682
157MP0002277_abnormal_respiratory_mucosa0.70777356
158MP0004085_abnormal_heartbeat0.70019232
159MP0003045_fibrosis0.69113110
160MP0003943_abnormal_hepatobiliary_system0.68512539
161MP0002269_muscular_atrophy0.68000944
162MP0005166_decreased_susceptibility_to0.66235435
163MP0002080_prenatal_lethality0.66218504
164MP0003122_maternal_imprinting0.65315562
165MP0000003_abnormal_adipose_tissue0.64106110
166MP0005584_abnormal_enzyme/coenzyme_acti0.63536387
167MP0002078_abnormal_glucose_homeostasis0.62185015
168MP0000427_abnormal_hair_cycle0.62023608
169MP0005360_urolithiasis0.61797004
170MP0004215_abnormal_myocardial_fiber0.61411631
171MP0004036_abnormal_muscle_relaxation0.61405896
172MP0002138_abnormal_hepatobiliary_system0.60813125
173MP0003221_abnormal_cardiomyocyte_apopto0.59198357
174MP0003787_abnormal_imprinting0.59100038
175MP0002092_abnormal_eye_morphology0.58964519
176MP0003283_abnormal_digestive_organ0.58799538
177MP0005551_abnormal_eye_electrophysiolog0.58639416
178MP0001299_abnormal_eye_distance/0.57846703
179MP0002118_abnormal_lipid_homeostasis0.57554478
180MP0005448_abnormal_energy_balance0.57183501
181MP0000631_abnormal_neuroendocrine_gland0.56594078
182* MP0000371_diluted_coat_color0.55575191
183MP0005623_abnormal_meninges_morphology0.55424258
184MP0000689_abnormal_spleen_morphology0.55225917
185MP0004484_altered_response_of0.53946531
186MP0010386_abnormal_urinary_bladder0.51741809

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.60612520
2Myokymia (HP:0002411)5.41384277
3B lymphocytopenia (HP:0010976)5.00305059
4Focal seizures (HP:0007359)4.73527966
5IgM deficiency (HP:0002850)4.58994517
6Abnormality of B cell number (HP:0010975)4.52870647
7Visual hallucinations (HP:0002367)4.28457460
8Abnormality of pyruvate family amino acid metabolism (HP:0010915)4.13262934
9Abnormality of alanine metabolism (HP:0010916)4.13262934
10Hyperalaninemia (HP:0003348)4.13262934
11Supranuclear gaze palsy (HP:0000605)3.92483274
12Abnormality of the lower motor neuron (HP:0002366)3.87673515
13Epileptic encephalopathy (HP:0200134)3.75444443
14Action tremor (HP:0002345)3.72976713
15Papilledema (HP:0001085)3.63924616
16Atonic seizures (HP:0010819)3.61611094
17Hepatocellular necrosis (HP:0001404)3.57993908
18Ankle clonus (HP:0011448)3.44799372
19Impaired vibration sensation in the lower limbs (HP:0002166)3.39454142
20Absence seizures (HP:0002121)3.37746475
21Poor eye contact (HP:0000817)3.36958277
22Increased CSF lactate (HP:0002490)3.27650949
23Urinary bladder sphincter dysfunction (HP:0002839)3.26441313
24Mitochondrial inheritance (HP:0001427)3.24227339
25Generalized tonic-clonic seizures (HP:0002069)3.23817309
26Hypoplastic pelvis (HP:0008839)3.23619639
27Impaired social interactions (HP:0000735)3.23424911
28Abnormal social behavior (HP:0012433)3.23424911
29IgG deficiency (HP:0004315)3.19253935
30Dialeptic seizures (HP:0011146)3.18779365
31Hepatic necrosis (HP:0002605)3.14263833
32Progressive cerebellar ataxia (HP:0002073)3.08748416
33Urinary urgency (HP:0000012)3.06903930
34Mutism (HP:0002300)3.06606569
35Abnormal mitochondria in muscle tissue (HP:0008316)3.06088432
36Febrile seizures (HP:0002373)3.05331816
37Depression (HP:0000716)3.04411031
38Postural instability (HP:0002172)3.02565259
39Oligodactyly (hands) (HP:0001180)3.00109529
40Increased intramyocellular lipid droplets (HP:0012240)2.91004554
41Colon cancer (HP:0003003)2.86766221
42Increased hepatocellular lipid droplets (HP:0006565)2.86321854
43Increased serum lactate (HP:0002151)2.80113850
44Pancreatic cysts (HP:0001737)2.79122988
45Abnormal eating behavior (HP:0100738)2.78809375
46Insidious onset (HP:0003587)2.78585190
47Termporal pattern (HP:0011008)2.78585190
48Decreased activity of mitochondrial respiratory chain (HP:0008972)2.74058999
49Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.74058999
50Lipid accumulation in hepatocytes (HP:0006561)2.72262470
51Truncal ataxia (HP:0002078)2.71500759
52Abnormality of the corticospinal tract (HP:0002492)2.71485080
53Cerebral inclusion bodies (HP:0100314)2.69226919
54Dysdiadochokinesis (HP:0002075)2.69019062
55Spastic gait (HP:0002064)2.68966037
56Torticollis (HP:0000473)2.67846118
57Dysmetric saccades (HP:0000641)2.65239380
58Status epilepticus (HP:0002133)2.60920635
59Abnormality of the labia minora (HP:0012880)2.60068815
60Acute necrotizing encephalopathy (HP:0006965)2.58371884
61Chromosomal breakage induced by crosslinking agents (HP:0003221)2.56662036
62Inability to walk (HP:0002540)2.53726868
63Bradykinesia (HP:0002067)2.51533764
64Gaze-evoked nystagmus (HP:0000640)2.48355786
65Resting tremor (HP:0002322)2.47163293
66Neurofibrillary tangles (HP:0002185)2.46618339
67Increased cerebral lipofuscin (HP:0011813)2.46020710
68Severe combined immunodeficiency (HP:0004430)2.45887746
69Acute encephalopathy (HP:0006846)2.44028992
70Dysmetria (HP:0001310)2.43503386
71Neuronal loss in central nervous system (HP:0002529)2.41946044
72Hemiplegia (HP:0002301)2.41842292
73Pancreatic fibrosis (HP:0100732)2.40048858
74Pheochromocytoma (HP:0002666)2.39049073
75Posterior subcapsular cataract (HP:0007787)2.38861705
76Hyperventilation (HP:0002883)2.38679566
77Anxiety (HP:0000739)2.38423667
78Epileptiform EEG discharges (HP:0011182)2.38345191
79EEG with generalized epileptiform discharges (HP:0011198)2.34774575
80Chromsome breakage (HP:0040012)2.34244540
81Aplasia/hypoplasia of the uterus (HP:0008684)2.33867267
82Abnormality of serum amino acid levels (HP:0003112)2.33285736
83Molar tooth sign on MRI (HP:0002419)2.32412936
84Abnormality of midbrain morphology (HP:0002418)2.32412936
85Clonus (HP:0002169)2.31915782
86Lactic acidosis (HP:0003128)2.31233216
87Hypsarrhythmia (HP:0002521)2.31200756
88Focal dystonia (HP:0004373)2.30246255
89Ventricular fibrillation (HP:0001663)2.29223517
90Renal Fanconi syndrome (HP:0001994)2.28566146
91Amyotrophic lateral sclerosis (HP:0007354)2.28211334
92Increased muscle lipid content (HP:0009058)2.27768085
93Apathy (HP:0000741)2.26561222
94Spastic tetraparesis (HP:0001285)2.23492751
95Meckel diverticulum (HP:0002245)2.23016497
96Impaired vibratory sensation (HP:0002495)2.22285040
97Combined immunodeficiency (HP:0005387)2.22198098
98Broad-based gait (HP:0002136)2.20731857
99CNS demyelination (HP:0007305)2.19485025
100Impaired smooth pursuit (HP:0007772)2.19157687
101Abnormality of the ileum (HP:0001549)2.18659203
102Exercise-induced myalgia (HP:0003738)2.17781143
103Oligodactyly (HP:0012165)2.17654063
104Upper motor neuron abnormality (HP:0002127)2.17566434
105Drooling (HP:0002307)2.15616801
106Excessive salivation (HP:0003781)2.15616801
107Craniofacial dystonia (HP:0012179)2.15497046
108Upper limb amyotrophy (HP:0009129)2.14211342
109Distal upper limb amyotrophy (HP:0007149)2.14211342
110Genetic anticipation (HP:0003743)2.13866789
111Nephronophthisis (HP:0000090)2.13186787
112Inappropriate behavior (HP:0000719)2.10155714
113Stereotypic behavior (HP:0000733)2.10149221
114Aplasia/Hypoplasia of the uvula (HP:0010293)2.09767760
115Rhabdomyosarcoma (HP:0002859)2.07393501
116Lower limb muscle weakness (HP:0007340)2.07325074
117Lower limb asymmetry (HP:0100559)2.07099113
118Intention tremor (HP:0002080)2.06802128
119Global brain atrophy (HP:0002283)2.05841646
120Bundle branch block (HP:0011710)2.04311102
121Achilles tendon contracture (HP:0001771)2.04246064
122Polyphagia (HP:0002591)2.03664346
123Postural tremor (HP:0002174)2.02062483
124Diplopia (HP:0000651)2.01571255
125Abnormality of binocular vision (HP:0011514)2.01571255
126Rigidity (HP:0002063)2.00992002
127Abnormality of ocular smooth pursuit (HP:0000617)2.00779462
128Type II lissencephaly (HP:0007260)2.00532829
129Aplasia involving forearm bones (HP:0009822)1.99846606
130Absent forearm bone (HP:0003953)1.99846606
131Progressive macrocephaly (HP:0004481)1.99670325
132Abnormality of the Achilles tendon (HP:0005109)1.99467404
133Hand muscle atrophy (HP:0009130)1.99445410
134Medial flaring of the eyebrow (HP:0010747)1.99062327
135Abnormality of chromosome stability (HP:0003220)1.98470187
136Abnormality of T cell physiology (HP:0011840)1.98107876
137Diminished motivation (HP:0000745)1.96919671
138Insomnia (HP:0100785)1.96005901
139Cerebral hypomyelination (HP:0006808)1.95887296
140Pointed chin (HP:0000307)1.95280809
141Fibular aplasia (HP:0002990)1.95101940
142Progressive inability to walk (HP:0002505)1.94961928
143Neuroendocrine neoplasm (HP:0100634)1.94635680
144Humeroradial synostosis (HP:0003041)1.94403517
145Synostosis involving the elbow (HP:0003938)1.94403517
146Tetraplegia (HP:0002445)1.93734309
147Horseshoe kidney (HP:0000085)1.92439009
148Rapidly progressive (HP:0003678)1.92346106
149Adactyly (HP:0009776)1.90604985
150Amblyopia (HP:0000646)1.90602149
151Abnormal protein glycosylation (HP:0012346)1.90449331
152Abnormal glycosylation (HP:0012345)1.90449331
153Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.90449331
154Abnormal protein N-linked glycosylation (HP:0012347)1.90449331
155Gonadotropin excess (HP:0000837)1.90236921
156Hypoplasia of the pons (HP:0012110)1.89654210
157True hermaphroditism (HP:0010459)1.88778809
158Gait ataxia (HP:0002066)1.88398159
159Type 2 muscle fiber atrophy (HP:0003554)1.86973144
160Abnormality of aspartate family amino acid metabolism (HP:0010899)1.86055708
161Lower limb amyotrophy (HP:0007210)1.85966741
162Exercise-induced muscle cramps (HP:0003710)1.85964583
163Ankyloglossia (HP:0010296)1.85704619
164Abnormality of the pons (HP:0007361)1.85352748
165Intestinal atresia (HP:0011100)1.85332600
166Agitation (HP:0000713)1.84229476
167Abnormality of pain sensation (HP:0010832)1.83973320
168Impaired pain sensation (HP:0007328)1.83973320
169Abnormality of saccadic eye movements (HP:0000570)1.83755549
170Optic disc pallor (HP:0000543)1.83568065
171Abnormality of glycosphingolipid metabolism (HP:0004343)1.82887071
172Thyroiditis (HP:0100646)1.82527586
173Abolished electroretinogram (ERG) (HP:0000550)1.80325181
174Increased serum pyruvate (HP:0003542)1.79496135
175Patellar aplasia (HP:0006443)1.79447585
176Decreased electroretinogram (ERG) amplitude (HP:0000654)1.79299931
177Abnormal spermatogenesis (HP:0008669)1.78444772
178Ependymoma (HP:0002888)1.78120662
179Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.77881025
180Neoplasm of the adrenal gland (HP:0100631)1.76871921
181Congenital stationary night blindness (HP:0007642)1.75947983
182Short tibia (HP:0005736)1.75542094
183Aplasia/Hypoplasia of the tibia (HP:0005772)1.75148780
184Abnormality of the preputium (HP:0100587)1.74377991
185Albinism (HP:0001022)1.74301644
186Methylmalonic aciduria (HP:0012120)1.74197524
187Severe visual impairment (HP:0001141)1.74093367
188Abnormal biliary tract physiology (HP:0012439)1.72785935
189Bile duct proliferation (HP:0001408)1.72785935
190Lissencephaly (HP:0001339)1.72313417
191Type I transferrin isoform profile (HP:0003642)1.72305956
192Abnormality of methionine metabolism (HP:0010901)1.72197154
193Breast carcinoma (HP:0003002)1.71514285
194Aplasia/Hypoplasia of the patella (HP:0006498)1.71382375
195Birth length less than 3rd percentile (HP:0003561)1.71319492
196Abnormality of T cells (HP:0002843)1.69294941
197Absent thumb (HP:0009777)1.69004541
198Cerebral edema (HP:0002181)1.68829194
199IgA deficiency (HP:0002720)1.66945233

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.39445567
2NTRK33.68958047
3MARK13.51300312
4EPHA43.19057411
5ZAK3.18991990
6DAPK23.13234000
7VRK22.77453871
8TRIM282.75337043
9MINK12.70484406
10MAP3K42.66229314
11CSNK1G12.60013128
12TSSK62.56310787
13BUB12.55030530
14SRPK12.50669738
15CAMKK12.45705041
16PAK62.40933699
17NUAK12.34021589
18STK162.31832148
19BMPR1B2.30593208
20CDC72.22247722
21RIPK42.19679323
22MAP2K42.17256802
23CSNK1G32.15377065
24KSR22.10624091
25PLK41.98293752
26PLK31.91760163
27WNK31.89383594
28NTRK11.87846897
29CSNK1A1L1.85906012
30PRPF4B1.84794165
31NTRK21.84078380
32NLK1.82540628
33TTK1.80675288
34ACVR1B1.70538454
35BCKDK1.70187592
36CAMKK21.69826939
37VRK11.66659448
38MAP4K21.65073450
39PBK1.62572446
40MAP2K71.59966095
41SIK21.56142302
42MST41.56055652
43BCR1.54648251
44DAPK11.54352729
45MKNK21.54114618
46CDK51.52117010
47GRK11.44798214
48TRIB31.44085785
49SCYL21.43105650
50PHKG21.42648499
51PHKG11.42648499
52MAP3K121.40345061
53PASK1.39116656
54ATR1.38948707
55FES1.36751006
56ADRBK21.36157379
57MKNK11.35152289
58ARAF1.34654687
59KSR11.34179985
60PRKCI1.33806075
61RET1.32290106
62FRK1.24262042
63DYRK21.23939794
64MAP3K131.23285698
65NEK11.23076278
66STK381.22132496
67PLK21.21659276
68PLK11.21027960
69EIF2AK31.18276074
70RIPK11.16625999
71MAP3K21.15073571
72PDGFRA1.12573062
73ALK1.12202837
74CAMK1G1.08877165
75PDK21.08331108
76CHEK21.07618655
77BRSK21.07058930
78TAF11.05969609
79NME11.05523589
80SGK31.05017775
81PRKCH1.00828479
82PKN21.00807321
83TNK21.00207899
84PDK10.97146025
85PRKD30.96743273
86CCNB10.96734771
87WEE10.95834751
88TGFBR10.93056957
89UHMK10.91752723
90SGK2230.91626824
91SGK4940.91626824
92CASK0.91239914
93PRKCG0.91146069
94PDPK10.90795396
95STK110.87669634
96SIK30.86010187
97SGK20.85487476
98OXSR10.81416697
99CDK190.81224359
100GRK50.80307166
101TYRO30.80275786
102EIF2AK10.78713356
103TEC0.77590593
104MAPK110.77368644
105TXK0.77294897
106LIMK10.75519374
107LATS20.75169404
108TAOK10.74973848
109CDK180.74837337
110ITK0.74511423
111CDK150.73688110
112MAPK130.73578471
113CDK140.73449261
114WNK40.71025513
115STK30.70675694
116AURKB0.69636186
117TNIK0.68578378
118PTK2B0.65813650
119CAMK1D0.64843787
120ATM0.64312439
121SGK10.63881344
122PRKCZ0.62964107
123BRSK10.61460879
124LMTK20.59457801
125RPS6KA20.59380152
126BMX0.59324214
127KDR0.59303690
128CDK11A0.57602711
129PNCK0.57509031
130CAMK40.57431958
131TLK10.56933030
132CAMK10.55907682
133JAK10.54215510
134CDK40.53841727
135CSNK1A10.53571768
136PINK10.53222866
137TAOK20.52690063
138CDC42BPA0.52434689
139ERBB30.51971264
140CAMK2A0.51803642
141TESK20.51723708
142FYN0.51430305
143DAPK30.50847500
144CSNK1G20.50307146
145CHEK10.49853175
146EIF2AK20.49229404
147IRAK10.49155620
148RPS6KA30.47974613
149CSNK2A10.45292787
150NEK20.45074144
151PAK30.44771510
152CSK0.44275202
153CDK70.44212669
154INSRR0.43761165
155PRKCQ0.42640899
156MAP3K10.42600147
157RAF10.42492847
158CSNK2A20.42405959
159CAMK2B0.41782793
160MAPK120.41574816
161JAK20.41237330
162MAP2K10.41181954
163MAP3K50.41090149
164TIE10.40072988
165FGR0.39098615
166MAPK100.38540335
167MAP3K70.37730985
168DYRK1A0.36920491
169CLK10.36909518
170DMPK0.36849992
171PIM10.36799783
172CDK10.36719852
173ADRBK10.36551358
174BRAF0.36059563
175FER0.35536824
176PRKCE0.35527091
177ERBB40.35018425
178RPS6KA50.34547381
179TTN0.34065968
180STK40.33299009
181MAP3K60.32948981
182CSNK1E0.32585360
183EPHA30.32487027
184CSNK1D0.31661702

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.40806265
2Synaptic vesicle cycle_Homo sapiens_hsa047213.43107670
3DNA replication_Homo sapiens_hsa030303.05501531
4Mismatch repair_Homo sapiens_hsa034303.01937734
5RNA polymerase_Homo sapiens_hsa030202.92273602
6Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.72391147
7Nicotine addiction_Homo sapiens_hsa050332.68092019
8Oxidative phosphorylation_Homo sapiens_hsa001902.67784385
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.60270342
10Homologous recombination_Homo sapiens_hsa034402.54668732
11Non-homologous end-joining_Homo sapiens_hsa034502.48889771
12One carbon pool by folate_Homo sapiens_hsa006702.36957784
13Olfactory transduction_Homo sapiens_hsa047402.35160671
14GABAergic synapse_Homo sapiens_hsa047272.30454596
15Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.29707617
16Basal transcription factors_Homo sapiens_hsa030222.29155357
17Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.27585660
18Circadian entrainment_Homo sapiens_hsa047132.24449432
19Primary immunodeficiency_Homo sapiens_hsa053402.23884335
20Parkinsons disease_Homo sapiens_hsa050122.23676958
21Long-term potentiation_Homo sapiens_hsa047202.19739046
22Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.15024096
23Protein export_Homo sapiens_hsa030602.14149020
24Morphine addiction_Homo sapiens_hsa050322.09365977
25Steroid biosynthesis_Homo sapiens_hsa001002.07749098
26Selenocompound metabolism_Homo sapiens_hsa004502.06140365
27Nucleotide excision repair_Homo sapiens_hsa034202.03469876
28Glutamatergic synapse_Homo sapiens_hsa047242.01629902
29Nitrogen metabolism_Homo sapiens_hsa009102.00868842
30RNA transport_Homo sapiens_hsa030131.98837634
31Fanconi anemia pathway_Homo sapiens_hsa034601.95997963
32RNA degradation_Homo sapiens_hsa030181.94194272
33Base excision repair_Homo sapiens_hsa034101.89333725
34Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.87605598
35Pyrimidine metabolism_Homo sapiens_hsa002401.83568719
36Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.81528906
37Dopaminergic synapse_Homo sapiens_hsa047281.79677123
38Ribosome_Homo sapiens_hsa030101.78680208
39Spliceosome_Homo sapiens_hsa030401.77068510
40Amphetamine addiction_Homo sapiens_hsa050311.76782528
41Insulin secretion_Homo sapiens_hsa049111.73772150
42Salivary secretion_Homo sapiens_hsa049701.73168497
43Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.73072016
44Huntingtons disease_Homo sapiens_hsa050161.67609612
45Cholinergic synapse_Homo sapiens_hsa047251.64867288
46Aldosterone synthesis and secretion_Homo sapiens_hsa049251.63083376
47Gastric acid secretion_Homo sapiens_hsa049711.59301428
48Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.54723117
49Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.53262242
50Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.52885838
51Collecting duct acid secretion_Homo sapiens_hsa049661.50567782
52Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.49744157
53Cysteine and methionine metabolism_Homo sapiens_hsa002701.48254751
54Propanoate metabolism_Homo sapiens_hsa006401.47675863
55Oxytocin signaling pathway_Homo sapiens_hsa049211.46092059
56Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.44270348
57Renin secretion_Homo sapiens_hsa049241.42753156
58Purine metabolism_Homo sapiens_hsa002301.40194524
59Type II diabetes mellitus_Homo sapiens_hsa049301.37914580
60Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.35584380
61Alzheimers disease_Homo sapiens_hsa050101.33796292
62Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.29897242
63Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.27007629
64Cocaine addiction_Homo sapiens_hsa050301.26241067
65Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.24695126
66Fatty acid elongation_Homo sapiens_hsa000621.24606974
67Long-term depression_Homo sapiens_hsa047301.22200594
68GnRH signaling pathway_Homo sapiens_hsa049121.20841542
69Glioma_Homo sapiens_hsa052141.17639796
70Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.17335933
71Cell cycle_Homo sapiens_hsa041101.16954933
72Calcium signaling pathway_Homo sapiens_hsa040201.16484553
73Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16393205
74Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.11143348
75Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.10778423
76Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.08826767
77Gap junction_Homo sapiens_hsa045401.05723990
782-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.05229606
79Taste transduction_Homo sapiens_hsa047421.04931302
80Arginine biosynthesis_Homo sapiens_hsa002201.04597024
81Serotonergic synapse_Homo sapiens_hsa047261.00853972
82Estrogen signaling pathway_Homo sapiens_hsa049150.97946764
83Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.92701623
84Vibrio cholerae infection_Homo sapiens_hsa051100.91988406
85Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.91769015
86Neurotrophin signaling pathway_Homo sapiens_hsa047220.91429432
87cAMP signaling pathway_Homo sapiens_hsa040240.89713442
88ErbB signaling pathway_Homo sapiens_hsa040120.88212902
89Bile secretion_Homo sapiens_hsa049760.88149569
90mTOR signaling pathway_Homo sapiens_hsa041500.83735342
91Sulfur relay system_Homo sapiens_hsa041220.82446392
92cGMP-PKG signaling pathway_Homo sapiens_hsa040220.82372876
93Lysosome_Homo sapiens_hsa041420.81295610
94Peroxisome_Homo sapiens_hsa041460.79765976
95VEGF signaling pathway_Homo sapiens_hsa043700.78918178
96Glucagon signaling pathway_Homo sapiens_hsa049220.78287449
97Metabolic pathways_Homo sapiens_hsa011000.78160057
98p53 signaling pathway_Homo sapiens_hsa041150.77926921
99Pyruvate metabolism_Homo sapiens_hsa006200.76846902
100Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.76139110
101Axon guidance_Homo sapiens_hsa043600.75801625
102Regulation of autophagy_Homo sapiens_hsa041400.74505112
103Folate biosynthesis_Homo sapiens_hsa007900.73333423
104Phospholipase D signaling pathway_Homo sapiens_hsa040720.73248464
105Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73094548
106Carbohydrate digestion and absorption_Homo sapiens_hsa049730.71057807
107Prion diseases_Homo sapiens_hsa050200.70960519
108Insulin signaling pathway_Homo sapiens_hsa049100.70846209
109Dilated cardiomyopathy_Homo sapiens_hsa054140.67859290
110Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.67672279
111Thyroid hormone synthesis_Homo sapiens_hsa049180.67137854
112Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.65178086
113Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.64297425
114Endocytosis_Homo sapiens_hsa041440.63965353
115Carbon metabolism_Homo sapiens_hsa012000.63357852
116Biosynthesis of amino acids_Homo sapiens_hsa012300.62625635
117Melanogenesis_Homo sapiens_hsa049160.62497939
118Inositol phosphate metabolism_Homo sapiens_hsa005620.61463539
119Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60907450
120MAPK signaling pathway_Homo sapiens_hsa040100.60638779
121Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.59881055
122Non-small cell lung cancer_Homo sapiens_hsa052230.58157812
123Glutathione metabolism_Homo sapiens_hsa004800.58055735
124Butanoate metabolism_Homo sapiens_hsa006500.57862905
125Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.56470355
126alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.55502196
127N-Glycan biosynthesis_Homo sapiens_hsa005100.53721214
128Vascular smooth muscle contraction_Homo sapiens_hsa042700.53500241
129Oocyte meiosis_Homo sapiens_hsa041140.53390634
130Longevity regulating pathway - mammal_Homo sapiens_hsa042110.52935097
131Sphingolipid signaling pathway_Homo sapiens_hsa040710.52887221
132Sulfur metabolism_Homo sapiens_hsa009200.52647932
133Pancreatic secretion_Homo sapiens_hsa049720.52254149
134Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.51472155
135Phagosome_Homo sapiens_hsa041450.51426556
136Linoleic acid metabolism_Homo sapiens_hsa005910.50750356
137mRNA surveillance pathway_Homo sapiens_hsa030150.50553647
138Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.49867661
139Chemokine signaling pathway_Homo sapiens_hsa040620.48573221
140Ether lipid metabolism_Homo sapiens_hsa005650.48179504
141Epstein-Barr virus infection_Homo sapiens_hsa051690.48173477
142Tuberculosis_Homo sapiens_hsa051520.47901140
143Vitamin B6 metabolism_Homo sapiens_hsa007500.47574122
144Adipocytokine signaling pathway_Homo sapiens_hsa049200.47400646
145Cardiac muscle contraction_Homo sapiens_hsa042600.46760184
146Intestinal immune network for IgA production_Homo sapiens_hsa046720.46497009
147Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45763039
148Endometrial cancer_Homo sapiens_hsa052130.44471729
149Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.44260752
150Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.43810932
151Tryptophan metabolism_Homo sapiens_hsa003800.43497530
152Choline metabolism in cancer_Homo sapiens_hsa052310.43122054
153Dorso-ventral axis formation_Homo sapiens_hsa043200.43115918
154Renal cell carcinoma_Homo sapiens_hsa052110.42946018
155Primary bile acid biosynthesis_Homo sapiens_hsa001200.42137119
156Rap1 signaling pathway_Homo sapiens_hsa040150.42062164
157Central carbon metabolism in cancer_Homo sapiens_hsa052300.41902696
158Fatty acid metabolism_Homo sapiens_hsa012120.41448486
159Insulin resistance_Homo sapiens_hsa049310.41221834
160Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.41088109
161Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.40376018
162Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.39791029
163Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.39140633
164Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.39019880
165Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.36804466
166Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.36746814
167Phototransduction_Homo sapiens_hsa047440.35253679
168Ras signaling pathway_Homo sapiens_hsa040140.35112892
169beta-Alanine metabolism_Homo sapiens_hsa004100.34304172
170T cell receptor signaling pathway_Homo sapiens_hsa046600.33531309
171Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.32151433
172Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.28842767
173Hedgehog signaling pathway_Homo sapiens_hsa043400.24794173
174Maturity onset diabetes of the young_Homo sapiens_hsa049500.23391172
175Caffeine metabolism_Homo sapiens_hsa002320.20650406
176Antigen processing and presentation_Homo sapiens_hsa046120.19090270
177Fat digestion and absorption_Homo sapiens_hsa049750.18683547
178Pentose and glucuronate interconversions_Homo sapiens_hsa000400.14952649
179Basal cell carcinoma_Homo sapiens_hsa052170.14565326
180Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.13887447
181Fatty acid degradation_Homo sapiens_hsa000710.13785403
182SNARE interactions in vesicular transport_Homo sapiens_hsa041300.12935765
183Arginine and proline metabolism_Homo sapiens_hsa003300.12080341
184Legionellosis_Homo sapiens_hsa051340.11752089

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