FIG4

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: The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pyrimidine nucleobase catabolic process (GO:0006208)5.88814698
2negative regulation of fibroblast apoptotic process (GO:2000270)5.16214443
3regulation of translational termination (GO:0006449)5.06560072
4protein polyglutamylation (GO:0018095)5.01118881
5DNA unwinding involved in DNA replication (GO:0006268)4.95453127
6retinal cone cell development (GO:0046549)4.81992257
7formation of translation preinitiation complex (GO:0001731)4.67401468
8IMP metabolic process (GO:0046040)4.66647434
9negative regulation of mast cell activation (GO:0033004)4.66187616
10nucleobase catabolic process (GO:0046113)4.59826277
11neural tube formation (GO:0001841)4.55136789
12DNA replication initiation (GO:0006270)4.33986676
13nucleobase biosynthetic process (GO:0046112)4.23138725
14negative regulation of histone methylation (GO:0031061)4.18104043
15IMP biosynthetic process (GO:0006188)4.16075607
16purine nucleobase biosynthetic process (GO:0009113)4.08664747
17folic acid-containing compound biosynthetic process (GO:0009396)3.98112421
18DNA strand elongation involved in DNA replication (GO:0006271)3.97211439
19ribosome assembly (GO:0042255)3.88733110
20axoneme assembly (GO:0035082)3.88015630
21regulation of histone H3-K9 methylation (GO:0051570)3.87358186
22histone H2A acetylation (GO:0043968)3.80579624
23regulation of translational fidelity (GO:0006450)3.78250186
24protein neddylation (GO:0045116)3.76543399
25negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.74379474
26negative regulation of cell killing (GO:0031342)3.74379474
27DNA strand elongation (GO:0022616)3.70463366
28mitotic nuclear envelope disassembly (GO:0007077)3.68112706
29limb bud formation (GO:0060174)3.66490541
30positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021103.64425595
31mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)3.64425595
32retinal rod cell development (GO:0046548)3.57877563
33pyrimidine dimer repair (GO:0006290)3.57344318
34membrane disassembly (GO:0030397)3.55514983
35nuclear envelope disassembly (GO:0051081)3.55514983
36DNA replication-dependent nucleosome organization (GO:0034723)3.54757267
37DNA replication-dependent nucleosome assembly (GO:0006335)3.54757267
38protein deneddylation (GO:0000338)3.52333903
39tricarboxylic acid cycle (GO:0006099)3.51239724
40cullin deneddylation (GO:0010388)3.47939476
41establishment of mitochondrion localization (GO:0051654)3.45936767
42folic acid metabolic process (GO:0046655)3.42679147
43maturation of SSU-rRNA (GO:0030490)3.41497448
44protein localization to cilium (GO:0061512)3.35297144
45regulation of translation in response to stress (GO:0043555)3.34684384
46inositol phosphate catabolic process (GO:0071545)3.31923679
47presynaptic membrane organization (GO:0097090)3.30817222
48regulation of spindle organization (GO:0090224)3.29230175
49mitotic metaphase plate congression (GO:0007080)3.28734039
50regulation of mitotic spindle organization (GO:0060236)3.27903744
51presynaptic membrane assembly (GO:0097105)3.26978472
52nuclear pore organization (GO:0006999)3.24992131
53glial cell proliferation (GO:0014009)3.24231667
54DNA double-strand break processing (GO:0000729)3.22649904
55ribosome biogenesis (GO:0042254)3.22138212
56regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.18523436
57DNA replication checkpoint (GO:0000076)3.17916019
58intraciliary transport (GO:0042073)3.17043072
59positive regulation of mitochondrial fission (GO:0090141)3.17041644
60determination of adult lifespan (GO:0008340)3.14529058
61mitotic G1 DNA damage checkpoint (GO:0031571)3.11678726
62nuclear envelope organization (GO:0006998)3.10890577
63protein localization to kinetochore (GO:0034501)3.10840018
64piRNA metabolic process (GO:0034587)3.10772234
65somatic diversification of immune receptors via somatic mutation (GO:0002566)3.05362500
66somatic hypermutation of immunoglobulin genes (GO:0016446)3.05362500
67histone-serine phosphorylation (GO:0035404)3.04464976
68regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.00665462
69regulation of coenzyme metabolic process (GO:0051196)2.99887342
70regulation of cofactor metabolic process (GO:0051193)2.99887342
71telomere maintenance via semi-conservative replication (GO:0032201)2.99813041
72negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.99751473
73DNA duplex unwinding (GO:0032508)2.99222052
74spliceosomal tri-snRNP complex assembly (GO:0000244)2.96636516
75DNA geometric change (GO:0032392)2.96302995
76negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.95754673
77spliceosomal snRNP assembly (GO:0000387)2.95370850
78AMP metabolic process (GO:0046033)2.94664310
79glycerophospholipid catabolic process (GO:0046475)2.94228815
80negative regulation of potassium ion transmembrane transport (GO:1901380)2.94109565
81regulation of feeding behavior (GO:0060259)2.93037953
82histone H2A ubiquitination (GO:0033522)2.92885910
83NADH metabolic process (GO:0006734)2.90549992
84tRNA aminoacylation for protein translation (GO:0006418)2.86940001
85regulation of fibroblast apoptotic process (GO:2000269)2.86099472
86regulation of acyl-CoA biosynthetic process (GO:0050812)2.84978993
87cell migration in hindbrain (GO:0021535)2.84632856
88nuclear pore complex assembly (GO:0051292)2.83352996
89regulation of translational elongation (GO:0006448)2.81960390
90glucocorticoid receptor signaling pathway (GO:0042921)2.81503135
91protein targeting to lysosome (GO:0006622)2.81081122
92establishment of protein localization to vacuole (GO:0072666)2.81081122
93protein targeting to vacuole (GO:0006623)2.81081122
94inositol phosphate dephosphorylation (GO:0046855)2.80246740
95phosphorylated carbohydrate dephosphorylation (GO:0046838)2.80246740
96response to pheromone (GO:0019236)2.79247246
97oxidative phosphorylation (GO:0006119)2.77338613
98pentose-phosphate shunt (GO:0006098)2.75876050
99amino acid activation (GO:0043038)2.75262965
100tRNA aminoacylation (GO:0043039)2.75262965
101DNA damage response, detection of DNA damage (GO:0042769)2.74698704
102nucleobase-containing small molecule interconversion (GO:0015949)2.73443266
103nonmotile primary cilium assembly (GO:0035058)2.72682501
104aspartate family amino acid biosynthetic process (GO:0009067)2.72482287
105neutrophil mediated immunity (GO:0002446)2.68548964
106chaperone-mediated protein complex assembly (GO:0051131)2.63707217
107peptidyl-arginine omega-N-methylation (GO:0035247)2.62511235
108protein targeting to peroxisome (GO:0006625)2.61077226
109establishment of protein localization to peroxisome (GO:0072663)2.61077226
110protein localization to peroxisome (GO:0072662)2.61077226
111retinal ganglion cell axon guidance (GO:0031290)2.60277580
112neuron cell-cell adhesion (GO:0007158)2.59386884
113mitotic G1/S transition checkpoint (GO:0044819)2.59363754
114folic acid transport (GO:0015884)2.59030671
115ubiquinone metabolic process (GO:0006743)2.58924723
116positive regulation of SMAD protein import into nucleus (GO:0060391)2.58895718
117protein K48-linked ubiquitination (GO:0070936)2.58600594
118neuronal action potential propagation (GO:0019227)2.58294480
119regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.58258502
120positive regulation of chromosome segregation (GO:0051984)2.57504713
121ubiquinone biosynthetic process (GO:0006744)2.55643727
122metaphase plate congression (GO:0051310)2.55571715
123translational initiation (GO:0006413)2.54578079
124regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.54417580
125mitochondrion transport along microtubule (GO:0047497)2.53793597
126establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.53793597
127glycosphingolipid biosynthetic process (GO:0006688)2.53544478
128pre-miRNA processing (GO:0031054)2.53321591
129cellular extravasation (GO:0045123)2.53225653
130regulation of telomere maintenance (GO:0032204)2.53179425
131mitotic chromosome condensation (GO:0007076)2.52530453
132ATP hydrolysis coupled proton transport (GO:0015991)2.52122891
133energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.52122891
134antigen processing and presentation via MHC class Ib (GO:0002475)2.51854385
135olfactory bulb development (GO:0021772)2.51648457
136cellular response to zinc ion (GO:0071294)2.51328308
137protein localization to chromosome, centromeric region (GO:0071459)2.51118921
138regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.50355348
139purine nucleobase metabolic process (GO:0006144)2.50262548
140synaptic vesicle maturation (GO:0016188)2.49543562
141ribonucleoprotein complex biogenesis (GO:0022613)2.49382347
142regulation of protein glycosylation (GO:0060049)2.49333279
143tricarboxylic acid metabolic process (GO:0072350)2.48496762
144cornea development in camera-type eye (GO:0061303)2.48025896
145positive regulation of mast cell activation involved in immune response (GO:0033008)2.46767844
146positive regulation of mast cell degranulation (GO:0043306)2.46767844
147postreplication repair (GO:0006301)2.46139866
148histone arginine methylation (GO:0034969)2.45633436
149spindle assembly involved in mitosis (GO:0090307)2.44653660
150regulation of posttranscriptional gene silencing (GO:0060147)2.44533537
151regulation of gene silencing by miRNA (GO:0060964)2.44533537
152regulation of gene silencing by RNA (GO:0060966)2.44533537
153glycine metabolic process (GO:0006544)2.44510591
154peptidyl-lysine dimethylation (GO:0018027)2.44258924
155regulation of mast cell activation (GO:0033003)2.44159785
156positive regulation of mast cell activation (GO:0033005)2.44059128
157telomere maintenance via recombination (GO:0000722)2.43954928
158phagosome maturation (GO:0090382)2.43907840
159regulation of MHC class II biosynthetic process (GO:0045346)2.43730802
160regulation of collateral sprouting (GO:0048670)2.43408998
161NADPH regeneration (GO:0006740)2.42512297
162rRNA processing (GO:0006364)2.42106275
163carnitine shuttle (GO:0006853)2.41997982
164mitotic recombination (GO:0006312)2.41055511
165mitochondrial RNA metabolic process (GO:0000959)2.40714596
166regulation of cilium movement (GO:0003352)2.40159012
167negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)2.39915316
168mitotic sister chromatid segregation (GO:0000070)2.39010216
169negative regulation of histone modification (GO:0031057)2.38991237
170regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.38791556
171regulation of mitotic spindle checkpoint (GO:1903504)2.38791556
172neutrophil activation involved in immune response (GO:0002283)2.36716225
173cilium organization (GO:0044782)2.34942550
174regulation of chromatin silencing (GO:0031935)2.33562654
175polyol catabolic process (GO:0046174)2.33218532
176peroxisomal transport (GO:0043574)2.32459918
177cilium morphogenesis (GO:0060271)2.31914249
178negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.31469187
179regulation of microtubule-based movement (GO:0060632)2.31433299
180behavioral response to nicotine (GO:0035095)2.30207528
181sialylation (GO:0097503)2.30114349
182myeloid leukocyte mediated immunity (GO:0002444)2.28379896
183platelet dense granule organization (GO:0060155)2.27603442
184peroxisome organization (GO:0007031)2.27376598
185tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.27272626
186RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.27272626
187histone H2A monoubiquitination (GO:0035518)2.25581776
188S-adenosylmethionine metabolic process (GO:0046500)2.24399762
189pigment granule transport (GO:0051904)2.24287162
190cilium assembly (GO:0042384)2.23356194
191negative regulation of telomere maintenance (GO:0032205)2.22758731
192negative regulation of DNA-templated transcription, elongation (GO:0032785)2.22694515
193negative regulation of microtubule polymerization (GO:0031115)2.21934103
194melanosome transport (GO:0032402)2.20406044
195establishment of pigment granule localization (GO:0051905)2.19740592
196metallo-sulfur cluster assembly (GO:0031163)2.19283266
197iron-sulfur cluster assembly (GO:0016226)2.19283266
198adaptation of signaling pathway (GO:0023058)2.19024775

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.83105187
2EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.89534473
3MYC_18555785_ChIP-Seq_MESCs_Mouse3.59553376
4EZH2_22144423_ChIP-Seq_EOC_Human3.34461972
5FOXM1_23109430_ChIP-Seq_U2OS_Human3.18832879
6ZNF274_21170338_ChIP-Seq_K562_Hela3.13776879
7IGF1R_20145208_ChIP-Seq_DFB_Human3.06746700
8EGR1_19374776_ChIP-ChIP_THP-1_Human2.92465290
9POU3F2_20337985_ChIP-ChIP_501MEL_Human2.64336353
10MYC_19079543_ChIP-ChIP_MESCs_Mouse2.61228000
11GBX2_23144817_ChIP-Seq_PC3_Human2.52784833
12CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.49378914
13E2F4_17652178_ChIP-ChIP_JURKAT_Human2.45362882
14TAF15_26573619_Chip-Seq_HEK293_Human2.44989719
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.39660811
16MYC_19030024_ChIP-ChIP_MESCs_Mouse2.38980560
17ZFP57_27257070_Chip-Seq_ESCs_Mouse2.36708494
18POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.35331270
19MYC_18358816_ChIP-ChIP_MESCs_Mouse2.32305757
20ZNF263_19887448_ChIP-Seq_K562_Human2.31150510
21MYC_22102868_ChIP-Seq_BL_Human2.28115852
22FLI1_27457419_Chip-Seq_LIVER_Mouse2.22925465
23ETS1_20019798_ChIP-Seq_JURKAT_Human2.17253919
24RBPJ_22232070_ChIP-Seq_NCS_Mouse2.16558308
25CREB1_15753290_ChIP-ChIP_HEK293T_Human2.15102836
26IRF8_21731497_ChIP-ChIP_J774_Mouse2.03640325
27EST1_17652178_ChIP-ChIP_JURKAT_Human2.02040808
28NELFA_20434984_ChIP-Seq_ESCs_Mouse2.00907307
29STAT3_1855785_ChIP-Seq_MESCs_Mouse1.95502197
30VDR_22108803_ChIP-Seq_LS180_Human1.94503637
31FUS_26573619_Chip-Seq_HEK293_Human1.94083585
32P300_19829295_ChIP-Seq_ESCs_Human1.92949592
33JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.92437391
34GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.90238563
35XRN2_22483619_ChIP-Seq_HELA_Human1.90069311
36FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.88444253
37NANOG_18555785_ChIP-Seq_MESCs_Mouse1.85175088
38* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.83178743
39SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.82873829
40CTBP2_25329375_ChIP-Seq_LNCAP_Human1.82147618
41PCGF2_27294783_Chip-Seq_ESCs_Mouse1.81398842
42SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.79208809
43CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.76252670
44ELF1_17652178_ChIP-ChIP_JURKAT_Human1.71328235
45POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.70834389
46IRF1_19129219_ChIP-ChIP_H3396_Human1.70536714
47CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.70257887
48KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.69833844
49NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.67941162
50NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.66905715
51MYCN_18555785_ChIP-Seq_MESCs_Mouse1.66622331
52GABP_17652178_ChIP-ChIP_JURKAT_Human1.66325926
53CIITA_25753668_ChIP-Seq_RAJI_Human1.66272189
54AR_21909140_ChIP-Seq_LNCAP_Human1.66250253
55VDR_23849224_ChIP-Seq_CD4+_Human1.64116612
56TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.62557285
57HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.62297924
58E2F1_18555785_ChIP-Seq_MESCs_Mouse1.62287964
59MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.60041348
60EWS_26573619_Chip-Seq_HEK293_Human1.59850950
61VDR_21846776_ChIP-Seq_THP-1_Human1.59487007
62SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.58624136
63SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.58471856
64ZFX_18555785_ChIP-Seq_MESCs_Mouse1.57494537
65NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.57465034
66* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.57017475
67CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.55697228
68NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.55302960
69KLF4_18555785_ChIP-Seq_MESCs_Mouse1.54813577
70DCP1A_22483619_ChIP-Seq_HELA_Human1.50779644
71CTBP1_25329375_ChIP-Seq_LNCAP_Human1.50551311
72NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.48032292
73OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.46957159
74SUZ12_27294783_Chip-Seq_NPCs_Mouse1.46328954
75TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.45586172
76NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.43724873
77KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.43522993
78FOXP3_21729870_ChIP-Seq_TREG_Human1.41405712
79* EZH2_27294783_Chip-Seq_NPCs_Mouse1.41234643
80SMAD4_21799915_ChIP-Seq_A2780_Human1.41004574
81FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.40667814
82GABP_19822575_ChIP-Seq_HepG2_Human1.40043704
83TFEB_21752829_ChIP-Seq_HELA_Human1.39872186
84MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.39817500
85* REST_21632747_ChIP-Seq_MESCs_Mouse1.39374857
86CBP_20019798_ChIP-Seq_JUKART_Human1.38617483
87IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.38617483
88KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.37776502
89PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36745144
90NFE2_27457419_Chip-Seq_LIVER_Mouse1.36683353
91E2F1_21310950_ChIP-Seq_MCF-7_Human1.34996664
92GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.34459288
93PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.34321783
94MYB_21317192_ChIP-Seq_ERMYB_Mouse1.34155012
95THAP11_20581084_ChIP-Seq_MESCs_Mouse1.34069966
96MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.32676864
97IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.31277835
98NANOG_18555785_Chip-Seq_ESCs_Mouse1.30729235
99UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.29881328
100ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.29570696
101TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29275553
102REST_18959480_ChIP-ChIP_MESCs_Mouse1.28307538
103ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.28216708
104SALL1_21062744_ChIP-ChIP_HESCs_Human1.27013919
105BCAT_22108803_ChIP-Seq_LS180_Human1.26909699
106MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.24960535
107TP53_22573176_ChIP-Seq_HFKS_Human1.23938421
108SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.23750594
109TCF4_23295773_ChIP-Seq_U87_Human1.23527682
110TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.23144032
111ELK1_19687146_ChIP-ChIP_HELA_Human1.22475878
112SOX2_19829295_ChIP-Seq_ESCs_Human1.22187961
113NANOG_19829295_ChIP-Seq_ESCs_Human1.22187961
114ER_23166858_ChIP-Seq_MCF-7_Human1.21843672
115SMAD_19615063_ChIP-ChIP_OVARY_Human1.21656507
116PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.21651460
117PCGF2_27294783_Chip-Seq_NPCs_Mouse1.21397151
118CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.20873220
119EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.20702920
120STAT3_23295773_ChIP-Seq_U87_Human1.20594357
121CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.20438505
122ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.19395078
123* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.17985739
124KLF5_20875108_ChIP-Seq_MESCs_Mouse1.17924767
125* NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.17699560
126TTF2_22483619_ChIP-Seq_HELA_Human1.17459683
127E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.17201143
128* CRX_20693478_ChIP-Seq_RETINA_Mouse1.16302003
129KDM5A_27292631_Chip-Seq_BREAST_Human1.16298010
130TAL1_26923725_Chip-Seq_HPCs_Mouse1.16106589
131* FLI1_21867929_ChIP-Seq_TH2_Mouse1.15383128
132POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.15195048
133TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15195048
134SRF_21415370_ChIP-Seq_HL-1_Mouse1.14907616
135* YY1_21170310_ChIP-Seq_MESCs_Mouse1.14718907
136EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.14670979
137HOXB4_20404135_ChIP-ChIP_EML_Mouse1.14310207
138IRF8_22096565_ChIP-ChIP_GC-B_Human1.14283948
139DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.13840409
140ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.13455304
141MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.13454319
142TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12844211
143AR_25329375_ChIP-Seq_VCAP_Human1.12588980
144SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.10915027
145NR3C1_21868756_ChIP-Seq_MCF10A_Human1.10561877
146TCF3_18692474_ChIP-Seq_MEFs_Mouse1.10405545
147FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.08569065
148NANOG_21062744_ChIP-ChIP_HESCs_Human1.07762299
149MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.07713011
150RUNX2_22187159_ChIP-Seq_PCA_Human1.07090019
151P53_22387025_ChIP-Seq_ESCs_Mouse1.06505218
152SUZ12_18555785_Chip-Seq_ESCs_Mouse1.05782870
153OCT4_18692474_ChIP-Seq_MEFs_Mouse1.05651633
154SOX2_18692474_ChIP-Seq_MEFs_Mouse1.04808564
155ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.04381780
156MYC_18940864_ChIP-ChIP_HL60_Human1.04291391
157TCF4_22108803_ChIP-Seq_LS180_Human1.03908171
158ETV2_25802403_ChIP-Seq_MESCs_Mouse1.03816693
159* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.02904481
160SPI1_23547873_ChIP-Seq_NB4_Human1.01741991
161FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.00765903
162SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.00096150
163RNF2_27304074_Chip-Seq_NSC_Mouse1.00047014
164CMYC_18555785_Chip-Seq_ESCs_Mouse0.99778535
165SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.99737112
166SMAD3_21741376_ChIP-Seq_EPCs_Human0.99441988
167ESR1_15608294_ChIP-ChIP_MCF-7_Human0.99289528
168RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.99028508
169NOTCH1_21737748_ChIP-Seq_TLL_Human0.98954587
170PRDM14_20953172_ChIP-Seq_ESCs_Human0.98882602
171P300_18555785_Chip-Seq_ESCs_Mouse0.98780605
172KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.98759477
173SOX2_18555785_ChIP-Seq_MESCs_Mouse0.98713212
174* OCT4_21477851_ChIP-Seq_ESCs_Mouse0.98656249
175HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.98229712
176PADI4_21655091_ChIP-ChIP_MCF-7_Human0.97424622
177ERG_20887958_ChIP-Seq_HPC-7_Mouse0.96487227
178POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.95361537
179ELK3_25401928_ChIP-Seq_HUVEC_Human0.95223832
180CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.94997929
181TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.94693414
182KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.94585910
183KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.94585910
184KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.94585910
185CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.93453900
186SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.92931163
187MAF_26560356_Chip-Seq_TH1_Human0.92913105
188TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.91873659
189FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.91533566
190ATF3_27146783_Chip-Seq_COLON_Human0.91281888

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003787_abnormal_imprinting4.99305019
2MP0004084_abnormal_cardiac_muscle4.94521078
3MP0008877_abnormal_DNA_methylation4.24786965
4MP0003693_abnormal_embryo_hatching3.99206260
5MP0004957_abnormal_blastocyst_morpholog3.39436726
6MP0000569_abnormal_digit_pigmentation3.22822396
7MP0002822_catalepsy3.14949532
8MP0003122_maternal_imprinting3.11596452
9MP0003806_abnormal_nucleotide_metabolis2.89072166
10MP0010352_gastrointestinal_tract_polyps2.88594542
11MP0003111_abnormal_nucleus_morphology2.86054380
12MP0003121_genomic_imprinting2.82972765
13MP0003880_abnormal_central_pattern2.82920339
14MP0003724_increased_susceptibility_to2.82446905
15MP0002102_abnormal_ear_morphology2.76871678
16MP0010094_abnormal_chromosome_stability2.76794510
17MP0004036_abnormal_muscle_relaxation2.54239907
18MP0003077_abnormal_cell_cycle2.49352892
19MP0005330_cardiomyopathy2.26988522
20MP0009840_abnormal_foam_cell2.23390794
21MP0001730_embryonic_growth_arrest2.18253331
22MP0003011_delayed_dark_adaptation2.12395215
23MP0006072_abnormal_retinal_apoptosis2.09986717
24MP0004215_abnormal_myocardial_fiber2.09750085
25MP0002638_abnormal_pupillary_reflex2.01809785
26MP0008057_abnormal_DNA_replication1.94043245
27MP0005058_abnormal_lysosome_morphology1.88718866
28MP0005397_hematopoietic_system_phenotyp1.88323985
29MP0001545_abnormal_hematopoietic_system1.88323985
30MP0010307_abnormal_tumor_latency1.87509610
31MP0002396_abnormal_hematopoietic_system1.87293481
32MP0000350_abnormal_cell_proliferation1.85997146
33MP0003221_abnormal_cardiomyocyte_apopto1.80839593
34MP0009278_abnormal_bone_marrow1.78980048
35MP0003828_pulmonary_edema1.78505872
36MP0002269_muscular_atrophy1.75410937
37MP0001188_hyperpigmentation1.75344367
38MP0005253_abnormal_eye_physiology1.73084250
39* MP0005075_abnormal_melanosome_morpholog1.71587465
40MP0003172_abnormal_lysosome_physiology1.71006027
41MP0002837_dystrophic_cardiac_calcinosis1.69111322
42MP0010630_abnormal_cardiac_muscle1.69091384
43MP0004130_abnormal_muscle_cell1.66838181
44MP0003567_abnormal_fetal_cardiomyocyte1.66679400
45MP0001486_abnormal_startle_reflex1.66633568
46MP0000751_myopathy1.65349481
47MP0003705_abnormal_hypodermis_morpholog1.65102983
48MP0005385_cardiovascular_system_phenoty1.64587377
49MP0001544_abnormal_cardiovascular_syste1.64587377
50MP0004270_analgesia1.61810984
51MP0003646_muscle_fatigue1.61330404
52MP0000490_abnormal_crypts_of1.61314370
53MP0006276_abnormal_autonomic_nervous1.61150791
54MP0005499_abnormal_olfactory_system1.61023503
55MP0005394_taste/olfaction_phenotype1.61023503
56MP0000778_abnormal_nervous_system1.59958636
57MP0008789_abnormal_olfactory_epithelium1.58734997
58MP0000015_abnormal_ear_pigmentation1.56453957
59MP0004808_abnormal_hematopoietic_stem1.56188404
60MP0001984_abnormal_olfaction1.55922246
61MP0003566_abnormal_cell_adhesion1.55033069
62MP0002080_prenatal_lethality1.54805753
63MP0004859_abnormal_synaptic_plasticity1.54475041
64MP0009046_muscle_twitch1.53274588
65MP0003300_gastrointestinal_ulcer1.52466137
66MP0003984_embryonic_growth_retardation1.52249712
67MP0005671_abnormal_response_to1.52140433
68MP0003123_paternal_imprinting1.52019688
69MP0001835_abnormal_antigen_presentation1.51806187
70MP0004087_abnormal_muscle_fiber1.51734487
71MP0002751_abnormal_autonomic_nervous1.49471721
72MP0001529_abnormal_vocalization1.47696299
73MP0001672_abnormal_embryogenesis/_devel1.47494947
74MP0005380_embryogenesis_phenotype1.47494947
75MP0002088_abnormal_embryonic_growth/wei1.47320124
76MP0008932_abnormal_embryonic_tissue1.44937087
77MP0006036_abnormal_mitochondrial_physio1.44364131
78MP0002086_abnormal_extraembryonic_tissu1.41932800
79MP0002090_abnormal_vision1.41811543
80MP0003635_abnormal_synaptic_transmissio1.41558397
81* MP0000747_muscle_weakness1.41477850
82MP0002063_abnormal_learning/memory/cond1.39683309
83MP0002736_abnormal_nociception_after1.38556686
84MP0004142_abnormal_muscle_tone1.38350325
85MP0005551_abnormal_eye_electrophysiolog1.37412486
86MP0001697_abnormal_embryo_size1.36712292
87MP0005084_abnormal_gallbladder_morpholo1.36642092
88MP0004811_abnormal_neuron_physiology1.34243838
89MP0009745_abnormal_behavioral_response1.34003646
90MP0008007_abnormal_cellular_replicative1.33435156
91MP0008775_abnormal_heart_ventricle1.32486911
92* MP0002272_abnormal_nervous_system1.31755434
93MP0001968_abnormal_touch/_nociception1.30104580
94MP0002972_abnormal_cardiac_muscle1.28139147
95MP0003183_abnormal_peptide_metabolism1.27811102
96MP0000750_abnormal_muscle_regeneration1.26268716
97MP0006082_CNS_inflammation1.24202127
98MP0003656_abnormal_erythrocyte_physiolo1.23996351
99MP0003137_abnormal_impulse_conducting1.23176979
100MP0002735_abnormal_chemical_nociception1.21709668
101MP0004742_abnormal_vestibular_system1.20924474
102MP0006138_congestive_heart_failure1.19631900
103MP0002064_seizures1.18251072
104MP0005174_abnormal_tail_pigmentation1.15795726
105MP0002572_abnormal_emotion/affect_behav1.14983566
106MP0002084_abnormal_developmental_patter1.14847400
107MP0003303_peritoneal_inflammation1.14284013
108MP0002019_abnormal_tumor_incidence1.14122298
109MP0001853_heart_inflammation1.14105400
110MP0008058_abnormal_DNA_repair1.13999650
111MP0002398_abnormal_bone_marrow1.12600157
112MP0004510_myositis1.12277801
113MP0000372_irregular_coat_pigmentation1.12180279
114MP0002653_abnormal_ependyma_morphology1.11906963
115MP0002067_abnormal_sensory_capabilities1.10761712
116MP0000358_abnormal_cell_content/1.10414593
117MP0001324_abnormal_eye_pigmentation1.10340888
118MP0003786_premature_aging1.10188731
119MP0010386_abnormal_urinary_bladder1.09591176
120MP0000313_abnormal_cell_death1.09030640
121* MP0002722_abnormal_immune_system1.08404618
122MP0004885_abnormal_endolymph1.07654080
123MP0000749_muscle_degeneration1.06942551
124MP0003690_abnormal_glial_cell1.06062031
125MP0009785_altered_susceptibility_to1.05961491
126MP0005076_abnormal_cell_differentiation1.05262966
127MP0004924_abnormal_behavior1.04555808
128MP0005386_behavior/neurological_phenoty1.04555808
129MP0005645_abnormal_hypothalamus_physiol1.04175718
130MP0003329_amyloid_beta_deposits1.03100783
131MP0002557_abnormal_social/conspecific_i1.03041985
132MP0002734_abnormal_mechanical_nocicepti1.01438074
133MP0002254_reproductive_system_inflammat1.01211096
134MP0002106_abnormal_muscle_physiology1.00833012
135* MP0000689_abnormal_spleen_morphology1.00067764
136MP0000858_altered_metastatic_potential0.99492201
137MP0002085_abnormal_embryonic_tissue0.99110160
138MP0002733_abnormal_thermal_nociception0.98368361
139MP0003195_calcinosis0.98283423
140MP0000703_abnormal_thymus_morphology0.97014268
141* MP0002882_abnormal_neuron_morphology0.96953109
142* MP0000955_abnormal_spinal_cord0.96631613
143MP0008770_decreased_survivor_rate0.95493603
144MP0000516_abnormal_urinary_system0.94162268
145MP0005367_renal/urinary_system_phenotyp0.94162268
146MP0005666_abnormal_adipose_tissue0.93170588
147MP0001790_abnormal_immune_system0.91901587
148MP0005387_immune_system_phenotype0.91901587
149MP0009333_abnormal_splenocyte_physiolog0.91747986
150MP0002127_abnormal_cardiovascular_syste0.91696466
151MP0002184_abnormal_innervation0.91026485
152MP0001970_abnormal_pain_threshold0.90696810
153MP0006035_abnormal_mitochondrial_morpho0.89603211
154MP0005266_abnormal_metabolism0.88479097
155MP0006292_abnormal_olfactory_placode0.87698406
156* MP0002229_neurodegeneration0.86139603
157MP0002429_abnormal_blood_cell0.86100345
158MP0001501_abnormal_sleep_pattern0.86098306
159MP0002909_abnormal_adrenal_gland0.85564564
160MP0000266_abnormal_heart_morphology0.85116096
161MP0005621_abnormal_cell_physiology0.83425157
162MP0002723_abnormal_immune_serum0.83054590
163MP0000647_abnormal_sebaceous_gland0.82841022
164MP0005000_abnormal_immune_tolerance0.82562007
165MP0004197_abnormal_fetal_growth/weight/0.82383485
166* MP0002752_abnormal_somatic_nervous0.82165941
167MP0005384_cellular_phenotype0.81844982
168MP0005423_abnormal_somatic_nervous0.81354937
169MP0000465_gastrointestinal_hemorrhage0.81251420
170MP0005464_abnormal_platelet_physiology0.81172091
171MP0004233_abnormal_muscle_weight0.80515713
172MP0002148_abnormal_hypersensitivity_rea0.79629308
173MP0005319_abnormal_enzyme/_coenzyme0.78357567
174MP0001849_ear_inflammation0.78231769
175MP0001800_abnormal_humoral_immune0.78121539
176MP0000604_amyloidosis0.75936762
177MP0001963_abnormal_hearing_physiology0.75257056
178MP0000716_abnormal_immune_system0.75247231
179MP0005310_abnormal_salivary_gland0.74973384
180MP0002419_abnormal_innate_immunity0.74089748
181MP0002095_abnormal_skin_pigmentation0.74046577
182MP0009765_abnormal_xenobiotic_induced0.72839073
183MP0001440_abnormal_grooming_behavior0.72653641
184MP0001905_abnormal_dopamine_level0.72097482
185MP0000598_abnormal_liver_morphology0.71628147
186MP0002452_abnormal_antigen_presenting0.71520303
187MP0003279_aneurysm0.71377658
188MP0005620_abnormal_muscle_contractility0.71108952
189* MP0000371_diluted_coat_color0.67753431
190MP0005369_muscle_phenotype0.65332432
191MP0010234_abnormal_vibrissa_follicle0.64773293

Predicted human phenotypes

RankGene SetZ-score
1Ependymoma (HP:0002888)4.03276438
2Medial flaring of the eyebrow (HP:0010747)4.01472668
3Polyphagia (HP:0002591)3.79322404
4Multiple enchondromatosis (HP:0005701)3.74606058
5Gait imbalance (HP:0002141)3.71473503
6Birth length less than 3rd percentile (HP:0003561)3.70403987
7Cerebral hypomyelination (HP:0006808)3.57442559
8Congenital primary aphakia (HP:0007707)3.53911115
9Sudden death (HP:0001699)3.37275366
10Abnormality of the anterior horn cell (HP:0006802)3.33767376
11Degeneration of anterior horn cells (HP:0002398)3.33767376
12Nephrogenic diabetes insipidus (HP:0009806)3.31668779
13Atrioventricular block (HP:0001678)3.28435829
14Progressive muscle weakness (HP:0003323)3.23562705
15Abnormal hair whorl (HP:0010721)3.18452662
16Abolished electroretinogram (ERG) (HP:0000550)3.09541306
17Angiofibromas (HP:0010615)2.96949539
18Adenoma sebaceum (HP:0009720)2.96949539
19Genital tract atresia (HP:0001827)2.93578450
20Muscle fibrillation (HP:0010546)2.93048157
21Basal cell carcinoma (HP:0002671)2.90180075
22Agnosia (HP:0010524)2.89916699
23Recurrent bacterial skin infections (HP:0005406)2.86934300
24Hepatoblastoma (HP:0002884)2.82112982
25Personality changes (HP:0000751)2.80118025
26Vaginal atresia (HP:0000148)2.75205450
27Asymmetric septal hypertrophy (HP:0001670)2.72098713
28Ragged-red muscle fibers (HP:0003200)2.68034811
29Tongue fasciculations (HP:0001308)2.66283645
30Rhabdomyolysis (HP:0003201)2.64182795
31Nephronophthisis (HP:0000090)2.62449757
32Ventricular tachycardia (HP:0004756)2.60992795
33Ventricular fibrillation (HP:0001663)2.60493348
34Astrocytoma (HP:0009592)2.60243720
35Abnormality of the astrocytes (HP:0100707)2.60243720
36Progressive inability to walk (HP:0002505)2.59944104
37Hyperglycinemia (HP:0002154)2.55011004
38Colon cancer (HP:0003003)2.53972673
39Carpal bone hypoplasia (HP:0001498)2.49390819
40Exercise-induced muscle cramps (HP:0003710)2.49314383
41Selective tooth agenesis (HP:0001592)2.47106073
42Drooling (HP:0002307)2.46045988
43Broad foot (HP:0001769)2.44996198
44Poor coordination (HP:0002370)2.43935904
45Specific learning disability (HP:0001328)2.41419784
46Abnormality of glycolipid metabolism (HP:0010969)2.40358817
47Abnormality of liposaccharide metabolism (HP:0010968)2.40358817
48Abnormality of glycosphingolipid metabolism (HP:0004343)2.40358817
49Hyperglycinuria (HP:0003108)2.40101711
50Spinal muscular atrophy (HP:0007269)2.38792861
51Retrobulbar optic neuritis (HP:0100654)2.36569225
52Optic neuritis (HP:0100653)2.36569225
53Excessive salivation (HP:0003781)2.35033725
54Bundle branch block (HP:0011710)2.33726009
55Inability to walk (HP:0002540)2.33478757
56Palpitations (HP:0001962)2.32507542
57Breast hypoplasia (HP:0003187)2.29984538
58Methylmalonic acidemia (HP:0002912)2.29102741
59Failure to thrive in infancy (HP:0001531)2.29054735
60Impaired vibration sensation in the lower limbs (HP:0002166)2.28297670
61Difficulty climbing stairs (HP:0003551)2.27661447
62Neurodegeneration (HP:0002180)2.25799728
63Thrombocytosis (HP:0001894)2.25799032
64Volvulus (HP:0002580)2.25369083
65Thyroid-stimulating hormone excess (HP:0002925)2.23716971
66Recurrent abscess formation (HP:0002722)2.23711583
67Pancreatic fibrosis (HP:0100732)2.22945132
68Mutism (HP:0002300)2.22738400
69Global brain atrophy (HP:0002283)2.20509147
70CNS hypomyelination (HP:0003429)2.20177622
71Hip dysplasia (HP:0001385)2.19260005
72Congenital stationary night blindness (HP:0007642)2.18005214
73Ventricular arrhythmia (HP:0004308)2.14540598
74Abnormality of macular pigmentation (HP:0008002)2.14396087
75* Amyotrophic lateral sclerosis (HP:0007354)2.13585329
76Myoglobinuria (HP:0002913)2.12914288
77Abnormality of the lower motor neuron (HP:0002366)2.12909431
78Premature ovarian failure (HP:0008209)2.12700208
79* Abnormal neuron morphology (HP:0012757)2.12177640
80* Abnormality of the motor neurons (HP:0002450)2.12177640
81Pancreatic cysts (HP:0001737)2.11002417
82Abnormality of pain sensation (HP:0010832)2.10728782
83Impaired pain sensation (HP:0007328)2.10728782
84Resting tremor (HP:0002322)2.10364301
85Amaurosis fugax (HP:0100576)2.09264691
86Vacuolated lymphocytes (HP:0001922)2.09261630
87Fatigue (HP:0012378)2.08833352
88Hyperventilation (HP:0002883)2.08746841
89Abnormality of glycine metabolism (HP:0010895)2.07881311
90Abnormality of serine family amino acid metabolism (HP:0010894)2.07881311
91Fibrous tissue neoplasm (HP:0012316)2.07022755
92Impulsivity (HP:0100710)2.06565387
93Growth hormone deficiency (HP:0000824)2.06312011
94* Pachygyria (HP:0001302)2.06187848
95Cutaneous melanoma (HP:0012056)2.05427267
96Progressive cerebellar ataxia (HP:0002073)2.05347707
97Abnormality of cells of the erythroid lineage (HP:0012130)2.04584256
98* Atrophy/Degeneration involving motor neurons (HP:0007373)2.04094797
99Muscle fiber splitting (HP:0003555)2.03489279
100Postnatal microcephaly (HP:0005484)2.03213247
101Heart block (HP:0012722)2.03132837
102Fasciculations (HP:0002380)2.02357407
103Neoplasm of the peripheral nervous system (HP:0100007)2.01680135
104Abnormal eating behavior (HP:0100738)2.01540911
105Decreased testicular size (HP:0008734)2.01104594
106Postaxial hand polydactyly (HP:0001162)2.00308407
107IgG deficiency (HP:0004315)2.00155985
108Fibroma (HP:0010614)1.99570961
109Absent speech (HP:0001344)1.99228131
110Dysostosis multiplex (HP:0000943)1.98866885
111Lissencephaly (HP:0001339)1.98082413
112IgM deficiency (HP:0002850)1.97681819
113Abnormal number of erythroid precursors (HP:0012131)1.97637836
114Hand muscle atrophy (HP:0009130)1.97304868
115Glioma (HP:0009733)1.96360507
116Abnormality of the renal medulla (HP:0100957)1.96102271
117Abnormality of midbrain morphology (HP:0002418)1.95238878
118Molar tooth sign on MRI (HP:0002419)1.95238878
119Acute necrotizing encephalopathy (HP:0006965)1.95067996
120Supraventricular tachycardia (HP:0004755)1.94600337
121Dysautonomia (HP:0002459)1.94072407
122Unsteady gait (HP:0002317)1.93646920
123Supraventricular arrhythmia (HP:0005115)1.91664239
124Narrow forehead (HP:0000341)1.91411459
125Areflexia of lower limbs (HP:0002522)1.90486286
126Cerebral aneurysm (HP:0004944)1.88148948
127Abnormality of the labia minora (HP:0012880)1.87815971
128Attenuation of retinal blood vessels (HP:0007843)1.87648873
129Abnormality of alanine metabolism (HP:0010916)1.87498591
130Hyperalaninemia (HP:0003348)1.87498591
131Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.87498591
132Slender long bone (HP:0003100)1.87309828
133Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.87007982
134Degeneration of the lateral corticospinal tracts (HP:0002314)1.87007982
1353-Methylglutaconic aciduria (HP:0003535)1.87006294
136Syncope (HP:0001279)1.86856721
137Increased CSF lactate (HP:0002490)1.86564641
138Retinitis pigmentosa (HP:0000510)1.86152398
139Lipoatrophy (HP:0100578)1.86114886
140Generalized myoclonic seizures (HP:0002123)1.84677140
141Stomatitis (HP:0010280)1.84607261
142Microretrognathia (HP:0000308)1.84374793
143Primary atrial arrhythmia (HP:0001692)1.84278913
144Medulloblastoma (HP:0002885)1.83893900
145Atrial fibrillation (HP:0005110)1.83768664
146Emotional lability (HP:0000712)1.83682776
147Keratoconjunctivitis (HP:0001096)1.83242668
148Abnormal atrioventricular conduction (HP:0005150)1.83041621
149Upper limb amyotrophy (HP:0009129)1.82180745
150Distal upper limb amyotrophy (HP:0007149)1.82180745
151True hermaphroditism (HP:0010459)1.82105086
152EMG: neuropathic changes (HP:0003445)1.81335957
153Progressive microcephaly (HP:0000253)1.79562488
154Oligomenorrhea (HP:0000876)1.79315781
155Poor suck (HP:0002033)1.79241884
156Spastic diplegia (HP:0001264)1.79026375
157Cortical dysplasia (HP:0002539)1.78099122
158Progressive macrocephaly (HP:0004481)1.77457003
159Neoplasm of the rectum (HP:0100743)1.77233606
160Mitochondrial inheritance (HP:0001427)1.77123342
161Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.76520312
162Short foot (HP:0001773)1.76418831
163Neoplasm of the oral cavity (HP:0100649)1.75090399
164Tubulointerstitial nephritis (HP:0001970)1.75048050
165Agitation (HP:0000713)1.74824402
166Asplenia (HP:0001746)1.74823089
167Increased density of long bones (HP:0006392)1.74691768
168Orchitis (HP:0100796)1.74339149
169Annular pancreas (HP:0001734)1.74068214
170Aplasia/Hypoplasia of the spleen (HP:0010451)1.73389526
171CNS demyelination (HP:0007305)1.73081061
172Hyperammonemia (HP:0001987)1.70510342
173Abnormality of the metopic suture (HP:0005556)1.68215879
174Abnormality of the salivary glands (HP:0010286)1.67923862
175Atonic seizures (HP:0010819)1.67680598
176Increased serum pyruvate (HP:0003542)1.67536975
177Abnormality of glycolysis (HP:0004366)1.67536975
178Rhabdomyosarcoma (HP:0002859)1.67286700
179Broad-based gait (HP:0002136)1.66659193
180Inappropriate behavior (HP:0000719)1.66014349
181Abnormal mitochondria in muscle tissue (HP:0008316)1.64915226
182Recurrent skin infections (HP:0001581)1.64757088
183Narrow nasal bridge (HP:0000446)1.63662339
184Aplasia/Hypoplasia of the lens (HP:0008063)1.61559824
185Long clavicles (HP:0000890)1.61289247
186Methylmalonic aciduria (HP:0012120)1.59837139
187Encephalitis (HP:0002383)1.59415754
188Acute encephalopathy (HP:0006846)1.59252287
189Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.58889905
190Generalized hypopigmentation (HP:0007513)1.58650089
191Renal cortical cysts (HP:0000803)1.58318263
192Chronic mucocutaneous candidiasis (HP:0002728)1.56423062
193Recurrent cutaneous fungal infections (HP:0011370)1.56423062
194Labial hypoplasia (HP:0000066)1.55747059

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K23.99619269
2PKN23.76330301
3PINK13.71529884
4NEK13.43821356
5WEE13.16122151
6PIK3CG3.05968080
7BUB12.85087726
8BCR2.83554479
9CDC72.73688822
10MARK12.69285206
11SCYL22.66501290
12MAP3K42.56415915
13TRIB32.53382506
14FLT32.43353861
15PDK32.37203307
16PDK42.37203307
17ERBB32.35798636
18CSNK1G22.31510768
19MAPK132.25334629
20TRIM282.19143804
21TSSK62.14355147
22EEF2K2.13400929
23WNK32.12065256
24STK162.11669295
25RPS6KA42.00887964
26MAP3K101.94958425
27CDK191.85323006
28STK241.78103464
29NEK21.76158988
30MAP2K71.75604752
31NUAK11.70355217
32MAP3K91.67325705
33CSNK1G31.62625713
34CASK1.59590642
35FRK1.54820876
36MAP3K81.51929908
37TTN1.50605689
38CSNK1G11.48637962
39MARK31.48146131
40PDK21.47293995
41CSNK1A1L1.45980185
42SRPK11.45140352
43SIK31.44531397
44EIF2AK11.44318169
45BCKDK1.44150489
46RPS6KB21.42680049
47KSR21.40361436
48DYRK21.39455933
49KSR11.35945093
50MAP4K11.33996461
51EPHA41.33663992
52TXK1.33117618
53EIF2AK31.30996478
54DYRK31.30577982
55LRRK21.29911126
56MAPKAPK31.28135179
57STK101.27628171
58EPHA31.26600063
59NME21.21111418
60ALK1.14805236
61LMTK21.13883524
62DAPK11.13497020
63CDK121.13010323
64TTK1.12340317
65PLK21.07911668
66PLK11.07884257
67TESK21.06089192
68ACVR1B1.04569355
69DAPK21.03991575
70ADRBK21.03748500
71MAP3K111.03296587
72FES1.03247762
73TEC1.01151985
74MAP2K20.99780011
75BRSK10.99177650
76PAK40.99159943
77STK110.98335477
78FGR0.96364746
79MAP2K40.96115772
80BRSK20.95098325
81CDK40.94482913
82DYRK1A0.87632327
83TNIK0.86478464
84ILK0.85037794
85PLK30.84965562
86SIK20.83285164
87PHKG10.80772920
88PHKG20.80772920
89CDK50.78699794
90ARAF0.78087574
91AURKA0.76972684
92RIPK40.76350369
93ATR0.76244713
94TESK10.73857076
95CCNB10.73331147
96ERN10.71735568
97AURKB0.70982621
98NTRK30.70882846
99GRK60.70393410
100MAPK110.69759902
101MAP3K50.69602592
102CSF1R0.69366457
103BLK0.68834696
104ZAK0.68062107
105BMPR1B0.67170348
106PDK10.66443616
107PIM10.66380314
108NTRK20.66217088
109TNK20.66121815
110GRK10.65835082
111RAF10.62796989
112STK40.62203398
113CDK70.61790562
114RET0.60888465
115CAMK1G0.60715611
116MET0.60681636
117CAMK1D0.60018374
118FER0.59894225
119CHEK20.58432265
120CAMKK10.58387576
121AKT20.57501971
122LYN0.57285790
123UHMK10.56451279
124CAMKK20.54672142
125VRK10.54608698
126EGFR0.54178906
127NTRK10.53649713
128PRKCZ0.52715450
129CDK140.52292420
130DAPK30.52212729
131ITK0.51920318
132MATK0.51801220
133CHEK10.51408646
134MINK10.50251056
135AKT30.50200869
136EPHA20.49729197
137CAMK40.48777319
138CSNK2A20.48565353
139PRKCE0.47105165
140CDK20.46602221
141PAK30.45948615
142MYLK0.45380281
143PRKCG0.44901465
144TYRO30.44871271
145PDGFRA0.44870272
146BMPR20.44387409
147PDPK10.44197199
148OXSR10.44150696
149MAP2K30.42638776
150LIMK10.42138314
151CDK60.41812963
152CSNK1D0.41635448
153HCK0.41594300
154STK38L0.40073634
155ABL10.40052789
156DYRK1B0.39966380
157MTOR0.39513593
158CSNK1A10.39256291
159PASK0.38829458
160SYK0.38445314
161IKBKE0.38401808
162PAK10.38350479
163IRAK10.38153010
164TAOK30.37998255
165BTK0.37757584
166FYN0.37062336
167PTK2B0.36434500
168RPS6KA60.35740164
169CDK180.34411010
170IGF1R0.34034447
171MAP3K120.34005322
172ZAP700.33881382
173MAP3K60.33743456
174CDK30.32532394
175PRKCQ0.31915376
176LCK0.31712273
177CAMK10.31264813
178KIT0.30263621
179CSNK1E0.27058866
180RPS6KC10.26624858

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.79562176
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.71621933
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.67778460
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.03106229
5Mismatch repair_Homo sapiens_hsa034302.97135954
6Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.79207511
7Type I diabetes mellitus_Homo sapiens_hsa049402.60474727
8Collecting duct acid secretion_Homo sapiens_hsa049662.57497541
9RNA transport_Homo sapiens_hsa030132.52841594
10Asthma_Homo sapiens_hsa053102.40920843
11Base excision repair_Homo sapiens_hsa034102.32758047
12Nicotine addiction_Homo sapiens_hsa050332.29295906
13RNA polymerase_Homo sapiens_hsa030202.25105850
14Biosynthesis of amino acids_Homo sapiens_hsa012302.14324766
15Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.13215415
16Allograft rejection_Homo sapiens_hsa053302.07837955
17Carbon metabolism_Homo sapiens_hsa012002.07644710
18One carbon pool by folate_Homo sapiens_hsa006701.99538903
19Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.95577076
20Synaptic vesicle cycle_Homo sapiens_hsa047211.95392802
21Graft-versus-host disease_Homo sapiens_hsa053321.93241461
22Rheumatoid arthritis_Homo sapiens_hsa053231.92174436
23Autoimmune thyroid disease_Homo sapiens_hsa053201.88086129
24Phagosome_Homo sapiens_hsa041451.87104387
25GABAergic synapse_Homo sapiens_hsa047271.86412420
26Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.84948581
27Cell cycle_Homo sapiens_hsa041101.82034374
28Spliceosome_Homo sapiens_hsa030401.79932166
29Proteasome_Homo sapiens_hsa030501.79537072
30Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.79264714
31Phototransduction_Homo sapiens_hsa047441.74242280
32Intestinal immune network for IgA production_Homo sapiens_hsa046721.72830186
33Basal transcription factors_Homo sapiens_hsa030221.71344536
34Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.71285728
35Oxidative phosphorylation_Homo sapiens_hsa001901.65887890
36Pentose phosphate pathway_Homo sapiens_hsa000301.62809506
37Pyrimidine metabolism_Homo sapiens_hsa002401.61014072
38Nucleotide excision repair_Homo sapiens_hsa034201.58963824
39Protein export_Homo sapiens_hsa030601.55034505
40Steroid biosynthesis_Homo sapiens_hsa001001.54165237
41Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.50523509
42Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.48360573
43Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.47862766
44Dopaminergic synapse_Homo sapiens_hsa047281.46787093
45Fatty acid elongation_Homo sapiens_hsa000621.44272495
46mTOR signaling pathway_Homo sapiens_hsa041501.42842713
47Ribosome_Homo sapiens_hsa030101.42411974
48Central carbon metabolism in cancer_Homo sapiens_hsa052301.41325462
49Staphylococcus aureus infection_Homo sapiens_hsa051501.41044017
50Morphine addiction_Homo sapiens_hsa050321.34162129
51Cysteine and methionine metabolism_Homo sapiens_hsa002701.32213289
52Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.30591420
53Leishmaniasis_Homo sapiens_hsa051401.26208136
54Parkinsons disease_Homo sapiens_hsa050121.23819812
55Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.22839783
56Tuberculosis_Homo sapiens_hsa051521.22442476
57Homologous recombination_Homo sapiens_hsa034401.20638500
58Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.19831492
59Oocyte meiosis_Homo sapiens_hsa041141.18524089
60Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.17547805
61Ether lipid metabolism_Homo sapiens_hsa005651.13799414
62Fanconi anemia pathway_Homo sapiens_hsa034601.07551969
63Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.06765286
64Long-term depression_Homo sapiens_hsa047301.06521472
65HIF-1 signaling pathway_Homo sapiens_hsa040661.06107869
66Glutamatergic synapse_Homo sapiens_hsa047241.04439295
67B cell receptor signaling pathway_Homo sapiens_hsa046621.02139149
68Epstein-Barr virus infection_Homo sapiens_hsa051691.01616370
69Circadian entrainment_Homo sapiens_hsa047130.99832835
70Butanoate metabolism_Homo sapiens_hsa006500.99660270
71Non-homologous end-joining_Homo sapiens_hsa034500.94962371
72Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.93903923
73Antigen processing and presentation_Homo sapiens_hsa046120.91634325
74Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.91622047
75Non-small cell lung cancer_Homo sapiens_hsa052230.89756213
76Osteoclast differentiation_Homo sapiens_hsa043800.89566506
77Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.89353798
78Viral carcinogenesis_Homo sapiens_hsa052030.88552635
79Thyroid cancer_Homo sapiens_hsa052160.87549389
80Peroxisome_Homo sapiens_hsa041460.87517399
81VEGF signaling pathway_Homo sapiens_hsa043700.87293040
82p53 signaling pathway_Homo sapiens_hsa041150.86850103
83Regulation of autophagy_Homo sapiens_hsa041400.86395157
84Serotonergic synapse_Homo sapiens_hsa047260.86338210
85Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.85362360
86Propanoate metabolism_Homo sapiens_hsa006400.83604717
87Taste transduction_Homo sapiens_hsa047420.83468619
88Purine metabolism_Homo sapiens_hsa002300.82020018
89beta-Alanine metabolism_Homo sapiens_hsa004100.81430997
90Fructose and mannose metabolism_Homo sapiens_hsa000510.81191720
91Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.80632052
92Chronic myeloid leukemia_Homo sapiens_hsa052200.80473012
93Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.80136056
94Selenocompound metabolism_Homo sapiens_hsa004500.79233851
95Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.78886131
96Axon guidance_Homo sapiens_hsa043600.78849303
97Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.78737121
98Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.78353707
99Thyroid hormone signaling pathway_Homo sapiens_hsa049190.77745519
100Legionellosis_Homo sapiens_hsa051340.76347997
101Vitamin B6 metabolism_Homo sapiens_hsa007500.75083933
102Pyruvate metabolism_Homo sapiens_hsa006200.73628214
103mRNA surveillance pathway_Homo sapiens_hsa030150.73419950
104Longevity regulating pathway - mammal_Homo sapiens_hsa042110.72992598
105Insulin signaling pathway_Homo sapiens_hsa049100.72940973
106Neurotrophin signaling pathway_Homo sapiens_hsa047220.72276939
107Renin-angiotensin system_Homo sapiens_hsa046140.71850106
108Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.71672470
109Alzheimers disease_Homo sapiens_hsa050100.70065670
110Acute myeloid leukemia_Homo sapiens_hsa052210.68981559
111Sulfur relay system_Homo sapiens_hsa041220.67586072
112Salmonella infection_Homo sapiens_hsa051320.65946063
113Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.64890818
114Galactose metabolism_Homo sapiens_hsa000520.63621103
115Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.63443127
116Glioma_Homo sapiens_hsa052140.63423791
117Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.63010296
118Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.62395795
119Vibrio cholerae infection_Homo sapiens_hsa051100.61961941
120Small cell lung cancer_Homo sapiens_hsa052220.61248793
121Folate biosynthesis_Homo sapiens_hsa007900.61090916
122Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.61015951
123AMPK signaling pathway_Homo sapiens_hsa041520.59775217
124Primary immunodeficiency_Homo sapiens_hsa053400.59088930
125Viral myocarditis_Homo sapiens_hsa054160.57789695
126Fatty acid degradation_Homo sapiens_hsa000710.57638405
127Colorectal cancer_Homo sapiens_hsa052100.56992644
128Chemokine signaling pathway_Homo sapiens_hsa040620.55377913
129Sphingolipid signaling pathway_Homo sapiens_hsa040710.53880347
130Inositol phosphate metabolism_Homo sapiens_hsa005620.52603174
131Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.52148007
132Apoptosis_Homo sapiens_hsa042100.51844490
133Huntingtons disease_Homo sapiens_hsa050160.51798841
134Cardiac muscle contraction_Homo sapiens_hsa042600.51479100
135Glucagon signaling pathway_Homo sapiens_hsa049220.51260817
136Primary bile acid biosynthesis_Homo sapiens_hsa001200.51174186
137Endometrial cancer_Homo sapiens_hsa052130.50500591
138Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.50309208
139RNA degradation_Homo sapiens_hsa030180.50258115
140Insulin resistance_Homo sapiens_hsa049310.49731671
141Estrogen signaling pathway_Homo sapiens_hsa049150.49225087
142Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.48587146
143Herpes simplex infection_Homo sapiens_hsa051680.48173306
144Lysosome_Homo sapiens_hsa041420.48016214
145Shigellosis_Homo sapiens_hsa051310.45675981
146Cholinergic synapse_Homo sapiens_hsa047250.45667495
147Cocaine addiction_Homo sapiens_hsa050300.44712627
148alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.44305061
149Hematopoietic cell lineage_Homo sapiens_hsa046400.43512472
150SNARE interactions in vesicular transport_Homo sapiens_hsa041300.43272327
151Glycosaminoglycan degradation_Homo sapiens_hsa005310.42995442
152Toll-like receptor signaling pathway_Homo sapiens_hsa046200.42793029
153Dilated cardiomyopathy_Homo sapiens_hsa054140.42789833
154NOD-like receptor signaling pathway_Homo sapiens_hsa046210.42684215
155Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.42652678
156Amphetamine addiction_Homo sapiens_hsa050310.42006395
157Sulfur metabolism_Homo sapiens_hsa009200.41616850
158Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.41575951
159Leukocyte transendothelial migration_Homo sapiens_hsa046700.40954063
160Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.40898141
161HTLV-I infection_Homo sapiens_hsa051660.40691318
162Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.39856685
163Hepatitis B_Homo sapiens_hsa051610.38955500
164Fatty acid metabolism_Homo sapiens_hsa012120.37828646
165Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.37226587
166Pertussis_Homo sapiens_hsa051330.37100339
167Nitrogen metabolism_Homo sapiens_hsa009100.36332252
168Systemic lupus erythematosus_Homo sapiens_hsa053220.34833775
169Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.29550953
170Platelet activation_Homo sapiens_hsa046110.29444364
171Toxoplasmosis_Homo sapiens_hsa051450.28432677
172Endocytosis_Homo sapiens_hsa041440.26603231
173Influenza A_Homo sapiens_hsa051640.26236783

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