TMX2

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: This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle exocytosis (GO:0016079)5.10177856
2vocalization behavior (GO:0071625)4.93815745
3neuron cell-cell adhesion (GO:0007158)4.92589706
4Golgi transport vesicle coating (GO:0048200)4.92239822
5COPI coating of Golgi vesicle (GO:0048205)4.92239822
6ribosome assembly (GO:0042255)4.78663381
7proteasome assembly (GO:0043248)4.76901186
8regulation of short-term neuronal synaptic plasticity (GO:0048172)4.71228986
9negative regulation of synaptic transmission, GABAergic (GO:0032229)4.66175161
10regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.60351843
11presynaptic membrane assembly (GO:0097105)4.59050466
12glutamate secretion (GO:0014047)4.57430766
13neurotransmitter-gated ion channel clustering (GO:0072578)4.48320879
14regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.42368444
15establishment of integrated proviral latency (GO:0075713)4.38470096
16regulation of synaptic vesicle exocytosis (GO:2000300)4.36348395
17synaptic vesicle docking involved in exocytosis (GO:0016081)4.34852650
18ATP hydrolysis coupled proton transport (GO:0015991)4.33171193
19energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)4.33171193
20neuronal action potential propagation (GO:0019227)4.32539641
21presynaptic membrane organization (GO:0097090)4.27241748
22neurotransmitter secretion (GO:0007269)4.16744876
23regulation of glutamate receptor signaling pathway (GO:1900449)4.12103525
24neuron-neuron synaptic transmission (GO:0007270)4.07485344
25transferrin transport (GO:0033572)4.07235740
26positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.06817839
27regulation of mitochondrial translation (GO:0070129)4.04716884
28negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.00483394
29protein localization to synapse (GO:0035418)3.96321816
30gamma-aminobutyric acid signaling pathway (GO:0007214)3.94962138
31tRNA aminoacylation for protein translation (GO:0006418)3.94086402
32regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.93187017
33regulation of mitotic spindle organization (GO:0060236)3.92970535
34anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.90769671
35gamma-aminobutyric acid transport (GO:0015812)3.90553686
36membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.89023900
37positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.88063770
38protein maturation by protein folding (GO:0022417)3.85881520
39regulation of synaptic vesicle transport (GO:1902803)3.85087856
40tRNA aminoacylation (GO:0043039)3.82786487
41amino acid activation (GO:0043038)3.82786487
42synaptic transmission, glutamatergic (GO:0035249)3.82096633
43cullin deneddylation (GO:0010388)3.80168219
44ferric iron transport (GO:0015682)3.79971366
45trivalent inorganic cation transport (GO:0072512)3.79971366
46postsynaptic membrane organization (GO:0001941)3.79799642
47ionotropic glutamate receptor signaling pathway (GO:0035235)3.78380251
48mitotic metaphase plate congression (GO:0007080)3.77767482
49establishment of viral latency (GO:0019043)3.77407423
50protein deneddylation (GO:0000338)3.77359431
51L-serine metabolic process (GO:0006563)3.77140242
52negative regulation of ligase activity (GO:0051352)3.73365857
53negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.73365857
54regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.72867680
55proline biosynthetic process (GO:0006561)3.69474593
56regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.69030236
57regulation of cellular amino acid metabolic process (GO:0006521)3.68945504
58negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.67777850
59NADH metabolic process (GO:0006734)3.67523356
60regulation of translational fidelity (GO:0006450)3.62973043
61regulation of spindle organization (GO:0090224)3.61867147
62synaptic vesicle maturation (GO:0016188)3.57960025
63glutamate receptor signaling pathway (GO:0007215)3.54626955
64neurotransmitter transport (GO:0006836)3.51726789
65striatum development (GO:0021756)3.50403488
66chaperone-mediated protein transport (GO:0072321)3.48208836
67mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.47608487
68nuclear pore complex assembly (GO:0051292)3.47200900
69positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.46498093
70positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.44133604
71mitotic sister chromatid segregation (GO:0000070)3.43878147
72long-term synaptic potentiation (GO:0060291)3.43856513
73DNA strand elongation involved in DNA replication (GO:0006271)3.42349797
74mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.39874895
75negative regulation of dendrite morphogenesis (GO:0050774)3.39125679
76response to histamine (GO:0034776)3.37570667
77nucleobase-containing small molecule interconversion (GO:0015949)3.36528185
78regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.35513517
79locomotory exploration behavior (GO:0035641)3.35226843
80DNA strand elongation (GO:0022616)3.34024545
81IMP biosynthetic process (GO:0006188)3.33967972
82proline transport (GO:0015824)3.31114872
83positive regulation of ligase activity (GO:0051351)3.29429683
84regulation of synaptic transmission, glutamatergic (GO:0051966)3.29348404
85purine nucleobase biosynthetic process (GO:0009113)3.28293547
86formation of translation preinitiation complex (GO:0001731)3.27587439
87neurotransmitter uptake (GO:0001504)3.27437645
88DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.26396257
89signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.26029823
90intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.26029823
91regulation of neurotransmitter levels (GO:0001505)3.25623005
92cerebellar granule cell differentiation (GO:0021707)3.25528743
93mitotic nuclear envelope disassembly (GO:0007077)3.24416935
94telomere maintenance via semi-conservative replication (GO:0032201)3.24097694
95metaphase plate congression (GO:0051310)3.24078134
96positive regulation of synapse assembly (GO:0051965)3.23880891
97signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.22451722
98signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.22451722
99signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.22451722
100startle response (GO:0001964)3.22353875
101signal transduction involved in DNA integrity checkpoint (GO:0072401)3.21689485
102signal transduction involved in DNA damage checkpoint (GO:0072422)3.21689485
103regulation of ubiquitin-protein transferase activity (GO:0051438)3.19646431
104succinate metabolic process (GO:0006105)3.18457728
105tricarboxylic acid cycle (GO:0006099)3.16874990
106protein targeting to mitochondrion (GO:0006626)3.16785075
107positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.15685842
108mechanosensory behavior (GO:0007638)3.14903172
109signal transduction involved in cell cycle checkpoint (GO:0072395)3.14640059
110oxidative phosphorylation (GO:0006119)3.14159898
111de novo protein folding (GO:0006458)3.14045982
112regulation of excitatory postsynaptic membrane potential (GO:0060079)3.13595523
113ATP synthesis coupled proton transport (GO:0015986)3.13300982
114energy coupled proton transport, down electrochemical gradient (GO:0015985)3.13300982
115neuromuscular process controlling posture (GO:0050884)3.13014052
116neuron recognition (GO:0008038)3.12753474
117regulation of long-term neuronal synaptic plasticity (GO:0048169)3.12017611
118ribosome biogenesis (GO:0042254)3.10268023
119protein localization to chromosome, centromeric region (GO:0071459)3.10056601
120regulation of neuronal synaptic plasticity (GO:0048168)3.09960599
121regulation of ligase activity (GO:0051340)3.08285488
122regulation of neurotransmitter secretion (GO:0046928)3.07641535
123sister chromatid segregation (GO:0000819)3.07510015
124de novo posttranslational protein folding (GO:0051084)3.07054080
125nuclear pore organization (GO:0006999)3.07053148
126protein localization to kinetochore (GO:0034501)3.06805560
127behavioral response to cocaine (GO:0048148)3.03879221
128transmission of nerve impulse (GO:0019226)3.03090251
129regulation of neurotransmitter transport (GO:0051588)2.99718594
130regulation of postsynaptic membrane potential (GO:0060078)2.99580323
131membrane disassembly (GO:0030397)2.98961463
132nuclear envelope disassembly (GO:0051081)2.98961463
133DNA unwinding involved in DNA replication (GO:0006268)2.98611174
134positive regulation of membrane potential (GO:0045838)2.97709352
135G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.97370910
136regulation of synaptic transmission, GABAergic (GO:0032228)2.96761681
137spliceosomal snRNP assembly (GO:0000387)2.96437928
138regulation of synapse structural plasticity (GO:0051823)2.96043117
139cerebellar Purkinje cell differentiation (GO:0021702)2.94949081
140positive regulation of neurotransmitter transport (GO:0051590)2.94941246
141respiratory electron transport chain (GO:0022904)2.94217415
142synaptic transmission (GO:0007268)2.93241704
143exploration behavior (GO:0035640)2.92691064
144nucleobase biosynthetic process (GO:0046112)2.92407772
145negative regulation of neurotransmitter transport (GO:0051589)2.91244366
146negative regulation of dendrite development (GO:2000171)2.90382010
147positive regulation of synapse maturation (GO:0090129)2.90104427
148IMP metabolic process (GO:0046040)2.89870903
149regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.88886711
150regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.88886711
151electron transport chain (GO:0022900)2.88885202
152protein localization to mitochondrion (GO:0070585)2.88231478
153positive regulation of synaptic transmission, GABAergic (GO:0032230)2.88017766
154positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.87698440
155positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.86920799
156rRNA modification (GO:0000154)2.86855172
157pore complex assembly (GO:0046931)2.86850070
158deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.86564322
159phagosome maturation (GO:0090382)2.85390560
160double-strand break repair via nonhomologous end joining (GO:0006303)2.85256041
161non-recombinational repair (GO:0000726)2.85256041
162membrane hyperpolarization (GO:0060081)2.83934136
163female mating behavior (GO:0060180)2.83774661
164establishment of protein localization to mitochondrion (GO:0072655)2.83689692
165regulation of synaptic plasticity (GO:0048167)2.83456702
166establishment of protein localization to mitochondrial membrane (GO:0090151)2.83034503
167regulation of glutamate secretion (GO:0014048)2.82967073
168positive regulation of synaptic transmission (GO:0050806)2.81921414
169synaptic vesicle endocytosis (GO:0048488)2.81661890
170establishment of synaptic vesicle localization (GO:0097480)2.81388546
171synaptic vesicle transport (GO:0048489)2.81388546
172protein complex biogenesis (GO:0070271)2.81278374
173mitochondrial RNA metabolic process (GO:0000959)2.81123338
174regulation of cellular amine metabolic process (GO:0033238)2.80730593
175membrane depolarization during action potential (GO:0086010)2.80614666
176synapse assembly (GO:0007416)2.80289583
177oxaloacetate metabolic process (GO:0006107)2.80069181
178ribosomal large subunit biogenesis (GO:0042273)2.77780990
179lipopolysaccharide biosynthetic process (GO:0009103)2.75114497
180retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.73006056
181pteridine-containing compound biosynthetic process (GO:0042559)2.72536686
182L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.72497882
183nuclear envelope reassembly (GO:0031468)2.69551821
184mitotic nuclear envelope reassembly (GO:0007084)2.69551821
185DNA ligation (GO:0006266)2.68988015
186cell cycle G1/S phase transition (GO:0044843)2.68362593
187G1/S transition of mitotic cell cycle (GO:0000082)2.68362593
188dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.66772320
189serine family amino acid biosynthetic process (GO:0009070)2.66768347
190telomere maintenance via recombination (GO:0000722)2.66338799
191proline metabolic process (GO:0006560)2.65791893
192establishment of chromosome localization (GO:0051303)2.65166902
193protein complex localization (GO:0031503)2.65112682
194fatty acid elongation (GO:0030497)2.64492927
195deoxyribonucleotide biosynthetic process (GO:0009263)2.64012676
196spindle checkpoint (GO:0031577)2.61076949

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.20120956
2GBX2_23144817_ChIP-Seq_PC3_Human4.80286039
3EZH2_22144423_ChIP-Seq_EOC_Human4.77057385
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.65000644
5MYC_18555785_ChIP-Seq_MESCs_Mouse3.91704309
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.71442602
7NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.64325802
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.58101691
9GABP_17652178_ChIP-ChIP_JURKAT_Human3.46451708
10HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.36629374
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.18922684
12TAF15_26573619_Chip-Seq_HEK293_Human3.18531307
13ETS1_20019798_ChIP-Seq_JURKAT_Human3.11510878
14SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.97058218
15EST1_17652178_ChIP-ChIP_JURKAT_Human2.91741975
16* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.91325525
17MYC_18358816_ChIP-ChIP_MESCs_Mouse2.90727606
18FOXM1_23109430_ChIP-Seq_U2OS_Human2.86457956
19SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.79167892
20MYC_19030024_ChIP-ChIP_MESCs_Mouse2.76335483
21AR_21909140_ChIP-Seq_LNCAP_Human2.74170102
22MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.72080695
23E2F4_17652178_ChIP-ChIP_JURKAT_Human2.67588943
24GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.65526537
25REST_21632747_ChIP-Seq_MESCs_Mouse2.59706806
26NELFA_20434984_ChIP-Seq_ESCs_Mouse2.57451106
27JARID2_20064375_ChIP-Seq_MESCs_Mouse2.57025480
28CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.52871860
29THAP11_20581084_ChIP-Seq_MESCs_Mouse2.52293500
30DCP1A_22483619_ChIP-Seq_HELA_Human2.51698595
31MYC_19079543_ChIP-ChIP_MESCs_Mouse2.45713519
32CTBP2_25329375_ChIP-Seq_LNCAP_Human2.43902909
33NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.42075875
34SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.36469952
35E2F1_18555785_ChIP-Seq_MESCs_Mouse2.34449264
36ELF1_17652178_ChIP-ChIP_JURKAT_Human2.33972746
37ZFP57_27257070_Chip-Seq_ESCs_Mouse2.29081986
38SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.26716864
39SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.25465916
40REST_18959480_ChIP-ChIP_MESCs_Mouse2.23927038
41PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.23892282
42EZH2_27304074_Chip-Seq_ESCs_Mouse2.23226339
43GABP_19822575_ChIP-Seq_HepG2_Human2.22714811
44CTBP1_25329375_ChIP-Seq_LNCAP_Human2.21969488
45JARID2_20075857_ChIP-Seq_MESCs_Mouse2.20539109
46RNF2_18974828_ChIP-Seq_MESCs_Mouse2.16720668
47EZH2_18974828_ChIP-Seq_MESCs_Mouse2.16720668
48XRN2_22483619_ChIP-Seq_HELA_Human2.16547119
49TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.14706135
50MYCN_18555785_ChIP-Seq_MESCs_Mouse2.12556295
51EED_16625203_ChIP-ChIP_MESCs_Mouse2.12156138
52SRF_21415370_ChIP-Seq_HL-1_Mouse2.09858267
53SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.09091599
54ZNF263_19887448_ChIP-Seq_K562_Human2.06536646
55MTF2_20144788_ChIP-Seq_MESCs_Mouse2.05387172
56ZFX_18555785_ChIP-Seq_MESCs_Mouse2.01041779
57E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.94673822
58P300_19829295_ChIP-Seq_ESCs_Human1.94336202
59POU3F2_20337985_ChIP-ChIP_501MEL_Human1.94315687
60ELK1_19687146_ChIP-ChIP_HELA_Human1.94235470
61RARB_27405468_Chip-Seq_BRAIN_Mouse1.92510146
62GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.92447592
63PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.91749493
64CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.91192230
65FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.89331721
66ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.87990004
67FOXP3_21729870_ChIP-Seq_TREG_Human1.87156672
68* SMAD4_21799915_ChIP-Seq_A2780_Human1.86237185
69POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.85526860
70HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.84249801
71* VDR_23849224_ChIP-Seq_CD4+_Human1.83385747
72VDR_22108803_ChIP-Seq_LS180_Human1.81284307
73ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.79550261
74TTF2_22483619_ChIP-Seq_HELA_Human1.79462491
75BMI1_23680149_ChIP-Seq_NPCS_Mouse1.78789178
76YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.78297362
77SUZ12_27294783_Chip-Seq_ESCs_Mouse1.77044151
78EZH2_27294783_Chip-Seq_ESCs_Mouse1.76313831
79CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.72801341
80SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.71429945
81HOXB4_20404135_ChIP-ChIP_EML_Mouse1.69374082
82CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.68191517
83NANOG_18555785_ChIP-Seq_MESCs_Mouse1.67744656
84PADI4_21655091_ChIP-ChIP_MCF-7_Human1.67661616
85FUS_26573619_Chip-Seq_HEK293_Human1.67593575
86SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.65926860
87RNF2_27304074_Chip-Seq_ESCs_Mouse1.63939997
88PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.60913236
89* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.60871949
90IGF1R_20145208_ChIP-Seq_DFB_Human1.59537654
91IKZF1_21737484_ChIP-ChIP_HCT116_Human1.59158978
92SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.58633460
93AR_21572438_ChIP-Seq_LNCaP_Human1.58606253
94PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57389579
95CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.56640451
96CBX2_27304074_Chip-Seq_ESCs_Mouse1.55972548
97OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.55573497
98DROSHA_22980978_ChIP-Seq_HELA_Human1.55062888
99TOP2B_26459242_ChIP-Seq_MCF-7_Human1.54470135
100YY1_21170310_ChIP-Seq_MESCs_Mouse1.54128462
101* KDM5A_27292631_Chip-Seq_BREAST_Human1.51672918
102PIAS1_25552417_ChIP-Seq_VCAP_Human1.49866338
103TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.49608460
104E2F1_21310950_ChIP-Seq_MCF-7_Human1.48634866
105SMAD3_21741376_ChIP-Seq_EPCs_Human1.47307179
106AR_25329375_ChIP-Seq_VCAP_Human1.46123534
107ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.46048506
108* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.44153206
109ER_23166858_ChIP-Seq_MCF-7_Human1.42503203
110SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.42388933
111RNF2_27304074_Chip-Seq_NSC_Mouse1.42341947
112MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.41776061
113TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36260698
114SOX2_21211035_ChIP-Seq_LN229_Gbm1.35411025
115UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.34101393
116PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.32927854
117DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.32501908
118CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.32119047
119POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.32014793
120HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.31329781
121ZNF274_21170338_ChIP-Seq_K562_Hela1.29765574
122FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.29695587
123TFEB_21752829_ChIP-Seq_HELA_Human1.29024070
124BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.28830430
125STAT3_23295773_ChIP-Seq_U87_Human1.24133182
126SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.23028831
127ERG_20887958_ChIP-Seq_HPC-7_Mouse1.22807113
128JUN_21703547_ChIP-Seq_K562_Human1.22621152
129KLF4_18555785_ChIP-Seq_MESCs_Mouse1.22009753
130POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.21423830
131* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.20837080
132PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.20294867
133MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.19952810
134TCF4_23295773_ChIP-Seq_U87_Human1.19261971
135NR3C1_23031785_ChIP-Seq_PC12_Mouse1.18712381
136CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18488562
137CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.18441303
138SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.17832653
139E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.17818061
140NANOG_18555785_Chip-Seq_ESCs_Mouse1.13119378
141SOX17_20123909_ChIP-Seq_XEN_Mouse1.12879584
142RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.12716893
143ERG_21242973_ChIP-ChIP_JURKAT_Human1.12349144
144RUNX2_22187159_ChIP-Seq_PCA_Human1.11852108
145CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.11730488
146CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.11598146
147ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.10956347
148STAT3_1855785_ChIP-Seq_MESCs_Mouse1.10213064
149TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.09861568
150PRDM14_20953172_ChIP-Seq_ESCs_Human1.09534135
151TBX5_21415370_ChIP-Seq_HL-1_Mouse1.09224521
152MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.08973767
153* SOX9_26525672_Chip-Seq_HEART_Mouse1.08024211
154HTT_18923047_ChIP-ChIP_STHdh_Human1.08015959
155PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.07725450
156SMAD_19615063_ChIP-ChIP_OVARY_Human1.07648016
157AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.07210557
158TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.06784189
159HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.05316314
160FLI1_27457419_Chip-Seq_LIVER_Mouse1.04779351
161MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04764141
162SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.04666984
163EWS_26573619_Chip-Seq_HEK293_Human1.02668656
164MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.00662817
165CLOCK_20551151_ChIP-Seq_293T_Human1.00543654
166TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00162140
167ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.00069929
168E2F1_18555785_Chip-Seq_ESCs_Mouse0.99599888
169CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.99515563
170EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.98836163
171P53_22387025_ChIP-Seq_ESCs_Mouse0.98602850
172TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.97002675
173SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.96902143
174ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.96653014
175PCGF2_27294783_Chip-Seq_ESCs_Mouse0.96154645
176MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.95433649
177CIITA_25753668_ChIP-Seq_RAJI_Human0.94969486
178CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.94879609
179SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.94600588
180P53_22127205_ChIP-Seq_FIBROBLAST_Human0.94161062
181FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.93664532
182ELK1_22589737_ChIP-Seq_MCF10A_Human0.93471373
183CMYC_18555785_Chip-Seq_ESCs_Mouse0.92995782
184AR_19668381_ChIP-Seq_PC3_Human0.92496142
185RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.91696550
186SUZ12_18555785_Chip-Seq_ESCs_Mouse0.91208199
187NR3C1_21868756_ChIP-Seq_MCF10A_Human0.90350904
188SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.89858222
189ARNT_22903824_ChIP-Seq_MCF-7_Human0.88811112
190STAT3_18555785_Chip-Seq_ESCs_Mouse0.88761633
191ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.87879112
192GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.87737805
193TAL1_26923725_Chip-Seq_HPCs_Mouse0.87352263
194SOX2_18555785_Chip-Seq_ESCs_Mouse0.86738472
195TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.86424987
196KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.83385592
197* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.81903017

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.80284612
2MP0003880_abnormal_central_pattern4.79141082
3MP0004859_abnormal_synaptic_plasticity4.38874781
4MP0004957_abnormal_blastocyst_morpholog4.07139053
5MP0010094_abnormal_chromosome_stability3.79520584
6MP0003111_abnormal_nucleus_morphology3.71635633
7MP0003635_abnormal_synaptic_transmissio3.50555247
8MP0009046_muscle_twitch3.46888991
9MP0008932_abnormal_embryonic_tissue3.35641474
10MP0003806_abnormal_nucleotide_metabolis3.33355332
11MP0009745_abnormal_behavioral_response3.30560512
12MP0002064_seizures3.20713692
13MP0008058_abnormal_DNA_repair3.15941954
14MP0001968_abnormal_touch/_nociception3.14863937
15MP0003077_abnormal_cell_cycle3.12495270
16MP0002736_abnormal_nociception_after2.97112462
17MP0008007_abnormal_cellular_replicative2.96952528
18MP0002063_abnormal_learning/memory/cond2.86842595
19MP0004270_analgesia2.79187407
20MP0002272_abnormal_nervous_system2.72702047
21MP0002572_abnormal_emotion/affect_behav2.70824487
22MP0001529_abnormal_vocalization2.69952027
23MP0002822_catalepsy2.66471228
24MP0003718_maternal_effect2.53692192
25MP0002735_abnormal_chemical_nociception2.52604845
26MP0002734_abnormal_mechanical_nocicepti2.52194178
27MP0003186_abnormal_redox_activity2.49179326
28MP0005408_hypopigmentation2.46216885
29MP0001486_abnormal_startle_reflex2.38710397
30MP0005646_abnormal_pituitary_gland2.34804416
31MP0006276_abnormal_autonomic_nervous2.28405897
32MP0001730_embryonic_growth_arrest2.26179676
33MP0001501_abnormal_sleep_pattern2.20420758
34MP0002067_abnormal_sensory_capabilities2.14183320
35MP0001440_abnormal_grooming_behavior2.13842500
36MP0001984_abnormal_olfaction2.09790649
37MP0003122_maternal_imprinting2.05517554
38MP0005423_abnormal_somatic_nervous2.04782664
39MP0001905_abnormal_dopamine_level1.98573917
40MP0004142_abnormal_muscle_tone1.95511624
41MP0000372_irregular_coat_pigmentation1.95310538
42MP0002733_abnormal_thermal_nociception1.90485632
43MP0010234_abnormal_vibrissa_follicle1.90471707
44MP0003787_abnormal_imprinting1.89908970
45MP0000358_abnormal_cell_content/1.89662736
46MP0001970_abnormal_pain_threshold1.88647425
47MP0003786_premature_aging1.86196361
48MP0005386_behavior/neurological_phenoty1.83531844
49MP0004924_abnormal_behavior1.83531844
50MP0008260_abnormal_autophagy1.72627858
51MP0003941_abnormal_skin_development1.70499148
52MP0002837_dystrophic_cardiac_calcinosis1.69413026
53MP0002876_abnormal_thyroid_physiology1.65027352
54MP0009780_abnormal_chondrocyte_physiolo1.64993802
55MP0002877_abnormal_melanocyte_morpholog1.64985775
56MP0002557_abnormal_social/conspecific_i1.60948017
57MP0000350_abnormal_cell_proliferation1.59213590
58MP0002080_prenatal_lethality1.58436110
59MP0008569_lethality_at_weaning1.58293767
60MP0002184_abnormal_innervation1.56609917
61MP0000778_abnormal_nervous_system1.53128493
62MP0005380_embryogenesis_phenotype1.51371340
63MP0001672_abnormal_embryogenesis/_devel1.51371340
64MP0003879_abnormal_hair_cell1.49881597
65MP0005645_abnormal_hypothalamus_physiol1.49815876
66MP0001697_abnormal_embryo_size1.49581593
67MP0001986_abnormal_taste_sensitivity1.48769284
68MP0001188_hyperpigmentation1.43657559
69MP0003329_amyloid_beta_deposits1.43091034
70MP0001764_abnormal_homeostasis1.41704495
71MP0005171_absent_coat_pigmentation1.35470725
72MP0010352_gastrointestinal_tract_polyps1.35464509
73MP0005058_abnormal_lysosome_morphology1.35382941
74MP0004811_abnormal_neuron_physiology1.34793627
75MP0002066_abnormal_motor_capabilities/c1.34780948
76MP0000751_myopathy1.32714660
77MP0009840_abnormal_foam_cell1.30697617
78MP0003984_embryonic_growth_retardation1.29077218
79MP0002882_abnormal_neuron_morphology1.27176599
80MP0000955_abnormal_spinal_cord1.24246163
81MP0004782_abnormal_surfactant_physiolog1.20039984
82MP0000313_abnormal_cell_death1.19958984
83MP0002088_abnormal_embryonic_growth/wei1.19848216
84MP0005551_abnormal_eye_electrophysiolog1.19499147
85MP0005501_abnormal_skin_physiology1.18508152
86MP0004858_abnormal_nervous_system1.18385318
87MP0008872_abnormal_physiological_respon1.15939464
88MP0003633_abnormal_nervous_system1.15500643
89MP0004043_abnormal_pH_regulation1.14624587
90MP0004215_abnormal_myocardial_fiber1.11690364
91MP0001502_abnormal_circadian_rhythm1.10832485
92MP0001661_extended_life_span1.10243920
93MP0002909_abnormal_adrenal_gland1.09825016
94MP0002229_neurodegeneration1.09653913
95MP0003656_abnormal_erythrocyte_physiolo1.07402953
96MP0003631_nervous_system_phenotype1.07178672
97MP0002084_abnormal_developmental_patter1.06418560
98MP0009672_abnormal_birth_weight1.03993973
99MP0005330_cardiomyopathy1.03039810
100MP0001963_abnormal_hearing_physiology1.02494356
101MP0010386_abnormal_urinary_bladder1.01593466
102MP0003315_abnormal_perineum_morphology1.01236729
103MP0006035_abnormal_mitochondrial_morpho1.00272992
104MP0000013_abnormal_adipose_tissue0.98781835
105MP0003566_abnormal_cell_adhesion0.98768736
106MP0001346_abnormal_lacrimal_gland0.98657793
107MP0004147_increased_porphyrin_level0.98567813
108MP0002085_abnormal_embryonic_tissue0.98550074
109MP0005384_cellular_phenotype0.98525721
110MP0004885_abnormal_endolymph0.98216634
111MP0001727_abnormal_embryo_implantation0.97729669
112MP0008789_abnormal_olfactory_epithelium0.97112757
113MP0008877_abnormal_DNA_methylation0.96055466
114MP0002796_impaired_skin_barrier0.95429948
115MP0003191_abnormal_cellular_cholesterol0.94209154
116MP0008057_abnormal_DNA_replication0.94068504
117MP0004742_abnormal_vestibular_system0.93710188
118MP0002086_abnormal_extraembryonic_tissu0.93283903
119MP0003646_muscle_fatigue0.92674876
120MP0005451_abnormal_body_composition0.90881284
121MP0004085_abnormal_heartbeat0.90486046
122MP0002152_abnormal_brain_morphology0.89736909
123MP0009697_abnormal_copulation0.89353424
124MP0001853_heart_inflammation0.89107226
125MP0003221_abnormal_cardiomyocyte_apopto0.89016327
126MP0003183_abnormal_peptide_metabolism0.88645862
127MP0000647_abnormal_sebaceous_gland0.88384039
128MP0003690_abnormal_glial_cell0.88339709
129MP0004272_abnormal_basement_membrane0.88279349
130MP0001881_abnormal_mammary_gland0.87601873
131MP0002638_abnormal_pupillary_reflex0.86991935
132MP0002069_abnormal_eating/drinking_beha0.86628168
133MP0006036_abnormal_mitochondrial_physio0.86586149
134MP0005165_increased_susceptibility_to0.86140483
135MP0005332_abnormal_amino_acid0.84575819
136MP0000749_muscle_degeneration0.84232067
137MP0005499_abnormal_olfactory_system0.84039582
138MP0005394_taste/olfaction_phenotype0.84039582
139MP0001664_abnormal_digestion0.83595126
140MP0003634_abnormal_glial_cell0.82642792
141MP0003121_genomic_imprinting0.82579553
142MP0003632_abnormal_nervous_system0.82234766
143MP0005257_abnormal_intraocular_pressure0.81563715
144MP0005636_abnormal_mineral_homeostasis0.81105983
145MP0002752_abnormal_somatic_nervous0.79975791
146MP0005395_other_phenotype0.79668178
147MP0000537_abnormal_urethra_morphology0.79391186
148MP0005535_abnormal_body_temperature0.79179839
149MP0000631_abnormal_neuroendocrine_gland0.77703547
150MP0002269_muscular_atrophy0.77350003
151MP0004036_abnormal_muscle_relaxation0.77250591
152MP0001485_abnormal_pinna_reflex0.76848516
153MP0005365_abnormal_bile_salt0.75734506
154MP0005621_abnormal_cell_physiology0.74616724
155MP0001177_atelectasis0.73997694
156MP0003137_abnormal_impulse_conducting0.71574946
157MP0005360_urolithiasis0.71397001
158MP0001915_intracranial_hemorrhage0.71373489
159MP0005319_abnormal_enzyme/_coenzyme0.70667764
160MP0004484_altered_response_of0.69295738
161MP0002060_abnormal_skin_morphology0.67974442
162MP0000747_muscle_weakness0.67861286
163MP0004197_abnormal_fetal_growth/weight/0.67735736
164MP0008874_decreased_physiological_sensi0.67079053
165MP0004145_abnormal_muscle_electrophysio0.66061304
166MP0000026_abnormal_inner_ear0.65362386
167MP0000627_abnormal_mammary_gland0.65223535
168MP0000613_abnormal_salivary_gland0.65212102
169MP0004264_abnormal_extraembryonic_tissu0.64615799
170MP0000920_abnormal_myelination0.64191849
171MP0008875_abnormal_xenobiotic_pharmacok0.63182508
172MP0004185_abnormal_adipocyte_glucose0.63112337
173MP0002332_abnormal_exercise_endurance0.62598524
174MP0005584_abnormal_enzyme/coenzyme_acti0.62594696
175MP0002102_abnormal_ear_morphology0.62028393
176MP0001929_abnormal_gametogenesis0.62019797
177MP0002111_abnormal_tail_morphology0.60742445
178MP0002139_abnormal_hepatobiliary_system0.60466881
179MP0000762_abnormal_tongue_morphology0.60358495
180MP0003123_paternal_imprinting0.58637287
181MP0000598_abnormal_liver_morphology0.58587258
182MP0001216_abnormal_epidermal_layer0.58446623
183MP0004233_abnormal_muscle_weight0.58104765
184MP0010307_abnormal_tumor_latency0.58013200
185MP0001943_abnormal_respiration0.57778367
186MP0001666_abnormal_nutrient_absorption0.56971684
187MP0002938_white_spotting0.56884016
188MP0002090_abnormal_vision0.56581529
189MP0002210_abnormal_sex_determination0.53686141

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.37422731
2Atonic seizures (HP:0010819)5.40908370
3Epileptic encephalopathy (HP:0200134)4.88976452
4Febrile seizures (HP:0002373)4.67249733
5Myokymia (HP:0002411)4.64656105
6Focal seizures (HP:0007359)4.47469851
7Acute necrotizing encephalopathy (HP:0006965)4.31146497
8Abnormal mitochondria in muscle tissue (HP:0008316)4.21414621
9Hyperventilation (HP:0002883)4.19597502
10Pheochromocytoma (HP:0002666)4.12245784
11Absence seizures (HP:0002121)3.90730974
12Neuroendocrine neoplasm (HP:0100634)3.87859939
13Progressive macrocephaly (HP:0004481)3.79238151
14Dialeptic seizures (HP:0011146)3.65295289
15Mitochondrial inheritance (HP:0001427)3.62164014
16Visual hallucinations (HP:0002367)3.56807448
17Increased serum pyruvate (HP:0003542)3.49079290
18Abnormality of glycolysis (HP:0004366)3.49079290
19Acute encephalopathy (HP:0006846)3.48341910
20Type I transferrin isoform profile (HP:0003642)3.48110109
21Progressive cerebellar ataxia (HP:0002073)3.37195125
22Generalized tonic-clonic seizures (HP:0002069)3.36874631
23Abnormal hair whorl (HP:0010721)3.34377420
24Hepatocellular necrosis (HP:0001404)3.32299023
25Microvesicular hepatic steatosis (HP:0001414)3.30991777
26Increased CSF lactate (HP:0002490)3.29079546
27Abnormal isoelectric focusing of serum transferrin (HP:0003160)3.26643685
28Abnormal protein N-linked glycosylation (HP:0012347)3.26643685
29Abnormal protein glycosylation (HP:0012346)3.26643685
30Abnormal glycosylation (HP:0012345)3.26643685
31Reduced antithrombin III activity (HP:0001976)3.22359818
32Cerebral hypomyelination (HP:0006808)3.18236858
33Gait imbalance (HP:0002141)3.07048629
34Limb dystonia (HP:0002451)3.00345149
35Congenital primary aphakia (HP:0007707)2.90155021
36Abnormal eating behavior (HP:0100738)2.89948559
37Ragged-red muscle fibers (HP:0003200)2.89141574
38Polyphagia (HP:0002591)2.88467425
39Nephrogenic diabetes insipidus (HP:0009806)2.87034763
40Medial flaring of the eyebrow (HP:0010747)2.85712008
41Poor suck (HP:0002033)2.79923858
42Hypokinesia (HP:0002375)2.78245900
43Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.76603730
44Decreased activity of mitochondrial respiratory chain (HP:0008972)2.76603730
45Broad-based gait (HP:0002136)2.72720518
46Failure to thrive in infancy (HP:0001531)2.67603871
47Gaze-evoked nystagmus (HP:0000640)2.62742733
48Degeneration of anterior horn cells (HP:0002398)2.53077646
49Abnormality of the anterior horn cell (HP:0006802)2.53077646
50Hepatic necrosis (HP:0002605)2.52261545
51Truncal ataxia (HP:0002078)2.52008105
52Secondary amenorrhea (HP:0000869)2.51673013
53Impaired vibration sensation in the lower limbs (HP:0002166)2.50431635
54Epileptiform EEG discharges (HP:0011182)2.43997834
55Optic disc pallor (HP:0000543)2.43979615
56Postnatal microcephaly (HP:0005484)2.42164522
57Leukodystrophy (HP:0002415)2.42154603
58Hyperammonemia (HP:0001987)2.40827152
59Anxiety (HP:0000739)2.39543316
60Multiple enchondromatosis (HP:0005701)2.38807546
61Abnormality of methionine metabolism (HP:0010901)2.37748749
62Hypothermia (HP:0002045)2.35166959
63Spastic paraparesis (HP:0002313)2.33567303
64Scanning speech (HP:0002168)2.33222686
65Upper limb muscle weakness (HP:0003484)2.32939947
66Oligomenorrhea (HP:0000876)2.30360477
67Progressive inability to walk (HP:0002505)2.29854503
68Lactic acidosis (HP:0003128)2.28852846
69Vaginal atresia (HP:0000148)2.28639517
70Dysdiadochokinesis (HP:0002075)2.28603645
71Genital tract atresia (HP:0001827)2.28457571
72Specific learning disability (HP:0001328)2.26124471
73Poor eye contact (HP:0000817)2.24552738
74CNS hypomyelination (HP:0003429)2.23277672
75EEG with generalized epileptiform discharges (HP:0011198)2.22889311
76Premature ovarian failure (HP:0008209)2.21842657
77Cerebral edema (HP:0002181)2.21049877
78Abnormality of serum amino acid levels (HP:0003112)2.20845392
79Cholelithiasis (HP:0001081)2.20200310
80Respiratory failure (HP:0002878)2.18942586
81Amblyopia (HP:0000646)2.18700079
82Abnormality of binocular vision (HP:0011514)2.18232718
83Diplopia (HP:0000651)2.18232718
84Ependymoma (HP:0002888)2.16280788
85Poor coordination (HP:0002370)2.15894920
86Abnormality of the umbilical cord (HP:0010881)2.15448706
87Inability to walk (HP:0002540)2.15434141
88Depression (HP:0000716)2.14577802
89Microglossia (HP:0000171)2.14514601
90Abnormalities of placenta or umbilical cord (HP:0001194)2.13653852
91Neoplasm of the peripheral nervous system (HP:0100007)2.13354222
92Blue irides (HP:0000635)2.13264003
93Abnormal gallbladder morphology (HP:0012437)2.13034384
94Insidious onset (HP:0003587)2.12519372
95Ankle clonus (HP:0011448)2.12187049
96Hypsarrhythmia (HP:0002521)2.10815841
97Sparse eyelashes (HP:0000653)2.10301968
98Fetal akinesia sequence (HP:0001989)2.10061934
99Cortical dysplasia (HP:0002539)2.09328598
100Autoamputation (HP:0001218)2.08512400
101Increased hepatocellular lipid droplets (HP:0006565)2.08074126
102Impaired social interactions (HP:0000735)2.07533436
103Abnormal social behavior (HP:0012433)2.07533436
104Exercise intolerance (HP:0003546)2.06498540
105Gout (HP:0001997)2.05979624
106Abnormality of the labia minora (HP:0012880)2.04404045
107Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.04399553
108Abnormality of alanine metabolism (HP:0010916)2.04399553
109Hyperalaninemia (HP:0003348)2.04399553
110Cholecystitis (HP:0001082)2.02923373
111Abnormal gallbladder physiology (HP:0012438)2.02923373
112Progressive muscle weakness (HP:0003323)1.98857417
113Death in infancy (HP:0001522)1.95803582
114Lethargy (HP:0001254)1.95376028
115Lipid accumulation in hepatocytes (HP:0006561)1.95312902
116Dysmetria (HP:0001310)1.94758057
117Progressive external ophthalmoplegia (HP:0000590)1.94733512
118Hand muscle atrophy (HP:0009130)1.93816215
119Narrow nasal bridge (HP:0000446)1.93589798
120Hypobetalipoproteinemia (HP:0003563)1.92962512
121Emotional lability (HP:0000712)1.92827248
122Shoulder girdle muscle weakness (HP:0003547)1.92385929
123Testicular atrophy (HP:0000029)1.92217507
124Abnormality of aspartate family amino acid metabolism (HP:0010899)1.91420442
125Action tremor (HP:0002345)1.89110472
126Increased serum lactate (HP:0002151)1.88787497
127Rhabdomyolysis (HP:0003201)1.88703642
128Spastic gait (HP:0002064)1.88215192
129Bradykinesia (HP:0002067)1.88109371
130Drooling (HP:0002307)1.87689364
131Excessive salivation (HP:0003781)1.87689364
132Sensorimotor neuropathy (HP:0007141)1.87097942
133Resting tremor (HP:0002322)1.86945303
134Protruding tongue (HP:0010808)1.86534980
135Abnormality of the corticospinal tract (HP:0002492)1.85936146
136Esotropia (HP:0000565)1.85873243
137Spastic diplegia (HP:0001264)1.85723358
138Rough bone trabeculation (HP:0100670)1.85235161
139X-linked dominant inheritance (HP:0001423)1.84056062
140Progressive microcephaly (HP:0000253)1.83716866
141Hyperglycinemia (HP:0002154)1.82787529
142Focal dystonia (HP:0004373)1.82439171
143Sensory axonal neuropathy (HP:0003390)1.81921660
144Impaired pain sensation (HP:0007328)1.81198684
145Abnormality of pain sensation (HP:0010832)1.81198684
146Abnormality of the fetal cardiovascular system (HP:0010948)1.80574057
147Abnormal umbilical cord blood vessels (HP:0011403)1.80574057
148Single umbilical artery (HP:0001195)1.80574057
149Patchy hypopigmentation of hair (HP:0011365)1.80475387
150Hyperinsulinemic hypoglycemia (HP:0000825)1.79999488
151Hypoplasia of the capital femoral epiphysis (HP:0003090)1.79907778
152Hemiparesis (HP:0001269)1.79679266
153Generalized myoclonic seizures (HP:0002123)1.79667982
154Impaired vibratory sensation (HP:0002495)1.79382964
155Status epilepticus (HP:0002133)1.78898443
156Abnormality of placental membranes (HP:0011409)1.77720994
157Amniotic constriction ring (HP:0009775)1.77720994
158CNS demyelination (HP:0007305)1.77051548
159Torticollis (HP:0000473)1.75571597
160Degeneration of the lateral corticospinal tracts (HP:0002314)1.75211738
161Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.75211738
162Hypoventilation (HP:0002791)1.73222868
163Termporal pattern (HP:0011008)1.72827592
164Increased intramyocellular lipid droplets (HP:0012240)1.72419026
165Abnormality of serine family amino acid metabolism (HP:0010894)1.72305197
166Abnormality of glycine metabolism (HP:0010895)1.72305197
167Chromosomal breakage induced by crosslinking agents (HP:0003221)1.72113066
168Neoplasm of the adrenal gland (HP:0100631)1.71517753
169Opisthotonus (HP:0002179)1.70066125
170Hypoglycemic coma (HP:0001325)1.69427909
171Microretrognathia (HP:0000308)1.69242306
172Hyperglycinuria (HP:0003108)1.67743788
173Vertebral compression fractures (HP:0002953)1.66019685
174Intrahepatic cholestasis (HP:0001406)1.65289682
175Abnormality of the gallbladder (HP:0005264)1.64487479
176Increased nuchal translucency (HP:0010880)1.63379058
177Palpitations (HP:0001962)1.60852337
178Facial cleft (HP:0002006)1.60070047

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK5.25464065
2BUB14.08410058
3MAP3K123.66857351
4EIF2AK13.60750871
5NTRK33.50714923
6NME23.48113322
7PBK3.44072524
8MAP2K73.41301518
9MAP3K43.32782473
10EIF2AK32.95870399
11SRPK12.95450815
12TTK2.93556119
13VRK22.67874508
14EPHA42.60244497
15PLK22.32455754
16CDK192.23102435
17MST1R2.21336407
18WEE12.20502640
19SCYL22.20439372
20AKT32.15323862
21MINK12.12344173
22CCNB12.10248555
23OXSR11.97318833
24MAP2K41.97182298
25TSSK61.96436849
26TESK11.94620248
27PRPF4B1.88529348
28TESK21.87341840
29MAP3K91.80632325
30MST41.77554995
31TRIM281.71908256
32MARK11.70704519
33BRSK21.70064363
34EPHA21.69538178
35DAPK11.65197937
36TNIK1.62358028
37PDK31.61185262
38PDK41.61185262
39DAPK21.60438365
40BCKDK1.51805384
41ARAF1.48638819
42SGK4941.48067253
43SGK2231.48067253
44CDC71.44200883
45SGK21.43953753
46PAK41.42407947
47MAPK131.38640408
48GRK51.36393250
49NTRK21.33902278
50PRKCG1.31980187
51SIK31.28950870
52IRAK31.24833934
53PLK41.24289430
54PLK11.23108966
55PIM21.23040978
56NME11.20139169
57BCR1.09695837
58VRK11.09586651
59MYLK1.07849796
60CDK51.07627241
61WNK31.07309619
62CAMK2A1.07215992
63ADRBK21.05581202
64AURKB1.04525159
65PDK21.00389967
66CAMK2B1.00032420
67NEK10.98478963
68BRAF0.97540609
69GRK70.97091543
70CAMKK20.96964346
71PNCK0.96508765
72KSR10.91975898
73BMPR1B0.91784548
74STK160.91235351
75MET0.91192634
76AURKA0.91170447
77PHKG10.87856016
78PHKG20.87856016
79CDK70.87198425
80MUSK0.85870514
81EIF2AK20.84019843
82PAK60.83479240
83PRKCE0.83448484
84MAP4K20.82694985
85MAP3K80.81970350
86ATR0.81238728
87FER0.80785505
88MKNK10.78740420
89CDK180.78615453
90SGK30.78054078
91NTRK10.77904000
92CSNK1G10.76988014
93UHMK10.76472661
94CHEK20.74469510
95LMTK20.74140634
96CHEK10.73119411
97STK390.72757494
98CAMK2D0.71865586
99CDK140.71040831
100CDK150.69019407
101ALK0.68549344
102ADRBK10.68289418
103BMPR20.68101616
104CSNK1A1L0.67494988
105PINK10.66761493
106PRKCI0.66524964
107CAMK2G0.66413162
108ERBB40.64657213
109FES0.64155043
110CDK80.62804578
111ERBB30.62584680
112CAMKK10.61542013
113ABL20.61141344
114MKNK20.60266048
115RPS6KA40.59981451
116PTK2B0.57305092
117PRKD30.57231021
118TNK20.56980370
119STK100.56913754
120MAPKAPK30.56633684
121CDK11A0.56399770
122NEK20.54822946
123MAP3K130.54582546
124WNK40.53663317
125CSNK1G20.53390264
126LIMK10.53214532
127CLK10.53050023
128SGK10.53013504
129RAF10.52098691
130AKT20.51632715
131PRKCH0.51468098
132PTK20.51173930
133NEK60.50564747
134CSNK2A10.49413032
135CSNK2A20.48607113
136SMG10.48399697
137ROCK20.46057973
138KSR20.45593649
139PLK30.45167561
140ATM0.44772465
141BRSK10.44680098
142PRKACA0.44266677
143PAK10.43279667
144DYRK1A0.41895691
145ZAK0.41829507
146MAPKAPK50.40632594
147NUAK10.39968194
148CSNK1E0.39369958
149CAMK10.39038802
150CSNK1G30.38931454
151MAP2K10.38097480
152CDK30.38083669
153TAF10.37339132
154DAPK30.36727475
155CDK10.36616129
156RIPK40.36055873
157ILK0.35643656
158OBSCN0.35203515
159LATS20.34977611
160WNK10.34953193
161PAK30.33102786
162CDK20.32232877
163PAK20.31439696
164PRKCA0.31424185
165RPS6KA30.30786597
166PKN10.30145837
167STK40.29975633

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.09207751
2Synaptic vesicle cycle_Homo sapiens_hsa047213.99592199
3Collecting duct acid secretion_Homo sapiens_hsa049663.62581864
4Oxidative phosphorylation_Homo sapiens_hsa001903.28061513
5Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.24556617
6Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.80314656
7DNA replication_Homo sapiens_hsa030302.76713668
8GABAergic synapse_Homo sapiens_hsa047272.60469607
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.59812351
10Mismatch repair_Homo sapiens_hsa034302.58867162
11Parkinsons disease_Homo sapiens_hsa050122.49345916
12Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.48778959
13Olfactory transduction_Homo sapiens_hsa047402.26859100
14Vibrio cholerae infection_Homo sapiens_hsa051102.26635326
15Morphine addiction_Homo sapiens_hsa050322.26108634
16Circadian entrainment_Homo sapiens_hsa047132.13247026
17Protein export_Homo sapiens_hsa030602.04058823
18Non-homologous end-joining_Homo sapiens_hsa034502.02458726
19Amphetamine addiction_Homo sapiens_hsa050312.00382332
20Alzheimers disease_Homo sapiens_hsa050101.97049548
21Base excision repair_Homo sapiens_hsa034101.96973173
22Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.94523066
23Glutamatergic synapse_Homo sapiens_hsa047241.93430598
24Taste transduction_Homo sapiens_hsa047421.86332453
25Dopaminergic synapse_Homo sapiens_hsa047281.81729725
26Long-term potentiation_Homo sapiens_hsa047201.79125119
27RNA transport_Homo sapiens_hsa030131.77294413
28RNA polymerase_Homo sapiens_hsa030201.70431473
29One carbon pool by folate_Homo sapiens_hsa006701.69517608
30Huntingtons disease_Homo sapiens_hsa050161.67546073
31Spliceosome_Homo sapiens_hsa030401.63625618
32Serotonergic synapse_Homo sapiens_hsa047261.58728070
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.57516112
34Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.57094356
35Nucleotide excision repair_Homo sapiens_hsa034201.55611332
36Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.54866591
37Insulin secretion_Homo sapiens_hsa049111.54281898
38Cardiac muscle contraction_Homo sapiens_hsa042601.53755667
39Salivary secretion_Homo sapiens_hsa049701.49713507
40Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.46327987
41Pyruvate metabolism_Homo sapiens_hsa006201.45631642
42Pyrimidine metabolism_Homo sapiens_hsa002401.42809444
43Steroid biosynthesis_Homo sapiens_hsa001001.42440981
44Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.39662239
45Long-term depression_Homo sapiens_hsa047301.36339780
46N-Glycan biosynthesis_Homo sapiens_hsa005101.36039887
47Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.36004823
48Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.33836614
49Cocaine addiction_Homo sapiens_hsa050301.33622340
50Folate biosynthesis_Homo sapiens_hsa007901.32085298
51Glutathione metabolism_Homo sapiens_hsa004801.31875351
52Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.31228331
53Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.31170075
54Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.31124579
55Pentose phosphate pathway_Homo sapiens_hsa000301.29049184
56Cell cycle_Homo sapiens_hsa041101.25984241
57Calcium signaling pathway_Homo sapiens_hsa040201.25069683
58Renin secretion_Homo sapiens_hsa049241.21767217
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.21481831
60Cholinergic synapse_Homo sapiens_hsa047251.21429874
61Homologous recombination_Homo sapiens_hsa034401.20898469
62Fatty acid elongation_Homo sapiens_hsa000621.18814260
63Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.17423652
64Gastric acid secretion_Homo sapiens_hsa049711.15852594
65Selenocompound metabolism_Homo sapiens_hsa004501.12121965
66Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.09292614
67Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.04439427
68Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.04235229
69Phototransduction_Homo sapiens_hsa047441.04102199
70Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.02686069
71Butanoate metabolism_Homo sapiens_hsa006501.02234404
72Rheumatoid arthritis_Homo sapiens_hsa053231.01415846
73Aldosterone synthesis and secretion_Homo sapiens_hsa049250.97162751
74Fanconi anemia pathway_Homo sapiens_hsa034600.93580838
75Arginine and proline metabolism_Homo sapiens_hsa003300.93144089
76Arginine biosynthesis_Homo sapiens_hsa002200.92353270
77Oxytocin signaling pathway_Homo sapiens_hsa049210.91090001
78Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.90290208
79Purine metabolism_Homo sapiens_hsa002300.90076626
80Cyanoamino acid metabolism_Homo sapiens_hsa004600.88219238
81mRNA surveillance pathway_Homo sapiens_hsa030150.85972711
82Basal transcription factors_Homo sapiens_hsa030220.85130388
83Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.84847909
84Sulfur relay system_Homo sapiens_hsa041220.84278254
85RNA degradation_Homo sapiens_hsa030180.84053542
86Galactose metabolism_Homo sapiens_hsa000520.81923820
87Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.79589627
88Gap junction_Homo sapiens_hsa045400.79439669
89Carbon metabolism_Homo sapiens_hsa012000.78283739
90Propanoate metabolism_Homo sapiens_hsa006400.77842207
91Ribosome_Homo sapiens_hsa030100.77621786
92Pentose and glucuronate interconversions_Homo sapiens_hsa000400.75049665
93Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.74472887
94Phagosome_Homo sapiens_hsa041450.72915426
95Vitamin B6 metabolism_Homo sapiens_hsa007500.72436840
96Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.72433907
97Proteasome_Homo sapiens_hsa030500.71933358
98cAMP signaling pathway_Homo sapiens_hsa040240.69348786
99SNARE interactions in vesicular transport_Homo sapiens_hsa041300.67504227
100Drug metabolism - other enzymes_Homo sapiens_hsa009830.63627298
101GnRH signaling pathway_Homo sapiens_hsa049120.62434400
102Peroxisome_Homo sapiens_hsa041460.61517661
103Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.57913840
104Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.57219959
105Type I diabetes mellitus_Homo sapiens_hsa049400.57113460
106Fatty acid degradation_Homo sapiens_hsa000710.56234913
107Axon guidance_Homo sapiens_hsa043600.55636319
108beta-Alanine metabolism_Homo sapiens_hsa004100.54505581
109cGMP-PKG signaling pathway_Homo sapiens_hsa040220.54304841
110Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.52761513
111Vascular smooth muscle contraction_Homo sapiens_hsa042700.51824030
112Cysteine and methionine metabolism_Homo sapiens_hsa002700.50667956
113Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.50458592
114Biosynthesis of amino acids_Homo sapiens_hsa012300.48644015
115Phosphatidylinositol signaling system_Homo sapiens_hsa040700.48526307
116Primary bile acid biosynthesis_Homo sapiens_hsa001200.47404111
117Fructose and mannose metabolism_Homo sapiens_hsa000510.46786352
118Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.46028665
119Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.46007847
120Fatty acid metabolism_Homo sapiens_hsa012120.45519014
121p53 signaling pathway_Homo sapiens_hsa041150.41917555
122ErbB signaling pathway_Homo sapiens_hsa040120.41259314
123Thyroid hormone synthesis_Homo sapiens_hsa049180.41053927
124Phenylalanine metabolism_Homo sapiens_hsa003600.39861992
125Melanogenesis_Homo sapiens_hsa049160.39381451
126Glucagon signaling pathway_Homo sapiens_hsa049220.38615417
127Oocyte meiosis_Homo sapiens_hsa041140.38157139
128Regulation of autophagy_Homo sapiens_hsa041400.37994226
129Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.35428415
130Sulfur metabolism_Homo sapiens_hsa009200.35394180
131Dilated cardiomyopathy_Homo sapiens_hsa054140.35006558
132Glycosaminoglycan degradation_Homo sapiens_hsa005310.33972892
133Estrogen signaling pathway_Homo sapiens_hsa049150.33787830
134Type II diabetes mellitus_Homo sapiens_hsa049300.33696165
135Pancreatic secretion_Homo sapiens_hsa049720.33617878
136Fat digestion and absorption_Homo sapiens_hsa049750.33576159
137Metabolic pathways_Homo sapiens_hsa011000.33164000
138Fatty acid biosynthesis_Homo sapiens_hsa000610.31545638
139Sphingolipid metabolism_Homo sapiens_hsa006000.31488393
140Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.29424391
141Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.28723540
142Lysosome_Homo sapiens_hsa041420.27925889
143Alcoholism_Homo sapiens_hsa050340.27681464
144Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.27547839
145Tyrosine metabolism_Homo sapiens_hsa003500.27075700
146Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.23644925
147Vitamin digestion and absorption_Homo sapiens_hsa049770.22447002
148MAPK signaling pathway_Homo sapiens_hsa040100.22432532
149Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.21445722
150Circadian rhythm_Homo sapiens_hsa047100.20452531
151Central carbon metabolism in cancer_Homo sapiens_hsa052300.19853917
152Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.19761228
153Ether lipid metabolism_Homo sapiens_hsa005650.18733584
154Ras signaling pathway_Homo sapiens_hsa040140.18397530
155Glioma_Homo sapiens_hsa052140.18257344
156Epstein-Barr virus infection_Homo sapiens_hsa051690.17172479
157Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.16402677
158Other glycan degradation_Homo sapiens_hsa005110.16027768
159Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.15643132
160Mineral absorption_Homo sapiens_hsa049780.15465323
161Shigellosis_Homo sapiens_hsa051310.13600207
162Chemical carcinogenesis_Homo sapiens_hsa052040.12067207

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