KPNA6

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: Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1lactate metabolic process (GO:0006089)4.34886821
2plasma membrane repair (GO:0001778)4.06359125
3carnitine shuttle (GO:0006853)3.98381407
4fatty acid transmembrane transport (GO:1902001)3.67753229
5carnitine transmembrane transport (GO:1902603)3.61620347
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.61594712
7carnitine transport (GO:0015879)3.58119528
8amino-acid betaine transport (GO:0015838)3.58119528
9cytoskeletal anchoring at plasma membrane (GO:0007016)3.36932974
10negative regulation of cell size (GO:0045792)3.35397803
11pre-miRNA processing (GO:0031054)3.33994310
12peptidyl-lysine dimethylation (GO:0018027)3.31217317
13cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.16970463
14lysine metabolic process (GO:0006553)3.16631919
15lysine catabolic process (GO:0006554)3.16631919
16somatic diversification of immune receptors via somatic mutation (GO:0002566)3.16423566
17somatic hypermutation of immunoglobulin genes (GO:0016446)3.16423566
18negative regulation of potassium ion transmembrane transport (GO:1901380)3.16049327
19regulation of fatty acid beta-oxidation (GO:0031998)3.13292937
20negative regulation of DNA-dependent DNA replication (GO:2000104)3.10529474
21negative regulation of translation, ncRNA-mediated (GO:0040033)3.09520788
22regulation of translation, ncRNA-mediated (GO:0045974)3.09520788
23negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.09520788
24nuclear pore complex assembly (GO:0051292)3.07000267
25macroautophagy (GO:0016236)3.06435767
26protein localization to endosome (GO:0036010)2.99862124
27ribosome assembly (GO:0042255)2.98919697
28regulation of hippo signaling (GO:0035330)2.96680100
29regulation of clathrin-mediated endocytosis (GO:2000369)2.94461369
30water-soluble vitamin biosynthetic process (GO:0042364)2.94246912
31pore complex assembly (GO:0046931)2.93608473
32positive regulation of fatty acid beta-oxidation (GO:0032000)2.91605110
33adherens junction assembly (GO:0034333)2.90857721
34sodium ion export (GO:0071436)2.86493476
35protein K6-linked ubiquitination (GO:0085020)2.85592152
36DNA double-strand break processing (GO:0000729)2.85478960
37regulation of translational termination (GO:0006449)2.84893880
38cytoplasmic mRNA processing body assembly (GO:0033962)2.83547432
39regulation of translational fidelity (GO:0006450)2.83197477
40* NLS-bearing protein import into nucleus (GO:0006607)2.83073834
41heterochromatin organization (GO:0070828)2.82131453
42fusion of sperm to egg plasma membrane (GO:0007342)2.82081438
43histone exchange (GO:0043486)2.80547852
44regulation of centriole replication (GO:0046599)2.80012464
45low-density lipoprotein particle clearance (GO:0034383)2.79950820
46chromatin remodeling at centromere (GO:0031055)2.79371518
47DNA replication-dependent nucleosome assembly (GO:0006335)2.78631334
48DNA replication-dependent nucleosome organization (GO:0034723)2.78631334
49cell wall macromolecule catabolic process (GO:0016998)2.78265542
50cell wall macromolecule metabolic process (GO:0044036)2.78265542
51cell communication by electrical coupling (GO:0010644)2.78137364
52layer formation in cerebral cortex (GO:0021819)2.76567311
53aspartate family amino acid catabolic process (GO:0009068)2.75798371
54acrosome assembly (GO:0001675)2.74127489
55dicarboxylic acid biosynthetic process (GO:0043650)2.73967794
56quaternary ammonium group transport (GO:0015697)2.73721477
57negative regulation of organelle assembly (GO:1902116)2.72035681
58CENP-A containing nucleosome assembly (GO:0034080)2.71061191
59nuclear pore organization (GO:0006999)2.70615081
60focal adhesion assembly (GO:0048041)2.69470121
61cell-substrate adherens junction assembly (GO:0007045)2.69470121
62histone H2A acetylation (GO:0043968)2.67761049
63DNA strand elongation involved in DNA replication (GO:0006271)2.67447601
64synapsis (GO:0007129)2.66372495
65regulation of DNA endoreduplication (GO:0032875)2.65343042
66tricarboxylic acid cycle (GO:0006099)2.65173973
67hippo signaling (GO:0035329)2.64680022
68CDP-diacylglycerol biosynthetic process (GO:0016024)2.64257581
69double-strand break repair via nonhomologous end joining (GO:0006303)2.64173892
70non-recombinational repair (GO:0000726)2.64173892
71regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.64158215
72protein complex localization (GO:0031503)2.64067405
73regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.63561309
74regulation of tight junction assembly (GO:2000810)2.63544675
75regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.62119087
76alpha-linolenic acid metabolic process (GO:0036109)2.61635804
77regulation of fatty acid oxidation (GO:0046320)2.61587940
78regulation of nuclear cell cycle DNA replication (GO:0033262)2.60093523
79synaptonemal complex assembly (GO:0007130)2.59840567
802-oxoglutarate metabolic process (GO:0006103)2.57541934
81cellular protein complex localization (GO:0034629)2.57319213
82mitotic nuclear envelope disassembly (GO:0007077)2.56469208
83regulation of Rac protein signal transduction (GO:0035020)2.54814917
84sperm motility (GO:0030317)2.54813305
85glycolytic process (GO:0006096)2.53095411
86respiratory chain complex IV assembly (GO:0008535)2.52756041
87regulation of NFAT protein import into nucleus (GO:0051532)2.52737739
88cardiac myofibril assembly (GO:0055003)2.52532059
89positive regulation of histone H3-K4 methylation (GO:0051571)2.52503118
90insulin-like growth factor receptor signaling pathway (GO:0048009)2.51876018
91establishment of nucleus localization (GO:0040023)2.50041179
92chaperone-mediated protein complex assembly (GO:0051131)2.50005772
93regulation of cholesterol homeostasis (GO:2000188)2.49022286
94DNA strand elongation (GO:0022616)2.48853378
95regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.48831396
96response to pheromone (GO:0019236)2.48345983
97positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.47404304
98regulation of mitochondrial translation (GO:0070129)2.47199198
99activation of protein kinase A activity (GO:0034199)2.47003143
100locomotory exploration behavior (GO:0035641)2.45841402
101fatty acid homeostasis (GO:0055089)2.45393058
102CDP-diacylglycerol metabolic process (GO:0046341)2.45234752
103positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.45067051
104telomere maintenance via semi-conservative replication (GO:0032201)2.44399143
105positive regulation of histone deacetylation (GO:0031065)2.43886174
106keratinocyte development (GO:0003334)2.41650019
107anterior/posterior axis specification, embryo (GO:0008595)2.41534566
108cell-substrate junction assembly (GO:0007044)2.40983263
109synaptic vesicle maturation (GO:0016188)2.40976685
110synaptonemal complex organization (GO:0070193)2.40540269
111plasma membrane fusion (GO:0045026)2.40027704
112mitotic sister chromatid segregation (GO:0000070)2.39715910
113positive regulation of fatty acid oxidation (GO:0046321)2.38867984
114cell communication involved in cardiac conduction (GO:0086065)2.38835102
115cullin deneddylation (GO:0010388)2.37465566
116stress fiber assembly (GO:0043149)2.37208815
117intracellular lipid transport (GO:0032365)2.36016137
118regulation of acyl-CoA biosynthetic process (GO:0050812)2.35922115
119nucleobase biosynthetic process (GO:0046112)2.35840601
120regulation of cofactor metabolic process (GO:0051193)2.35718674
121regulation of coenzyme metabolic process (GO:0051196)2.35718674
122sister chromatid segregation (GO:0000819)2.34595394
123purine nucleobase biosynthetic process (GO:0009113)2.33862570
124peptidyl-threonine modification (GO:0018210)2.33443315
125female gonad development (GO:0008585)2.32852142
126DNA replication checkpoint (GO:0000076)2.32208240
127establishment of integrated proviral latency (GO:0075713)2.31531658
128mitotic sister chromatid cohesion (GO:0007064)2.31303571
129proline transport (GO:0015824)2.31012193
130positive regulation of protein autophosphorylation (GO:0031954)2.30983612
131regulation of meiosis I (GO:0060631)2.30476309
132peptidyl-threonine phosphorylation (GO:0018107)2.30102528
133somatic recombination of immunoglobulin gene segments (GO:0016447)2.29978557
134response to X-ray (GO:0010165)2.29856834
135metaphase plate congression (GO:0051310)2.29529224
136nucleotide-excision repair, DNA gap filling (GO:0006297)2.29527921
137regulation of protein polyubiquitination (GO:1902914)2.28662393
138nuclear envelope disassembly (GO:0051081)2.28581968
139membrane disassembly (GO:0030397)2.28581968
140Leydig cell differentiation (GO:0033327)2.27994821
141regulation of centrosome duplication (GO:0010824)2.27850439
142somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.27591209
143isotype switching (GO:0045190)2.27591209
144somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.27591209
145proteasome assembly (GO:0043248)2.27397284
146telomere maintenance via telomerase (GO:0007004)2.27327189
147replication fork processing (GO:0031297)2.26285077
148tRNA aminoacylation for protein translation (GO:0006418)2.26269081
149amino acid activation (GO:0043038)2.25275584
150tRNA aminoacylation (GO:0043039)2.25275584
151sperm-egg recognition (GO:0035036)2.25059522
152postreplication repair (GO:0006301)2.24254405
153exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.23823258
154acetyl-CoA metabolic process (GO:0006084)2.23367371
155somatic diversification of immunoglobulins (GO:0016445)2.22580622
156regulation of centrosome cycle (GO:0046605)2.22558571
157negative regulation of hormone biosynthetic process (GO:0032353)2.21419193
158protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)2.20760929
159establishment of protein localization to mitochondrial membrane (GO:0090151)2.20625550
160cytochrome complex assembly (GO:0017004)2.20266569
161positive regulation of glycogen biosynthetic process (GO:0045725)2.20255431
162negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)2.20128478
163IMP biosynthetic process (GO:0006188)2.19220453
164regulation of sulfur metabolic process (GO:0042762)2.18932125
1654-hydroxyproline metabolic process (GO:0019471)2.18910408
166maturation of 5.8S rRNA (GO:0000460)2.18587990
167sarcomere organization (GO:0045214)2.17890790
168regulation of ARF protein signal transduction (GO:0032012)2.17864057
169peptidyl-cysteine modification (GO:0018198)2.17764363
170regulation of translational elongation (GO:0006448)2.17633858
171nodal signaling pathway (GO:0038092)2.17532026
172regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.17284506
173regulation of nucleobase-containing compound transport (GO:0032239)2.17107766
174positive regulation of glycolytic process (GO:0045821)2.17096850
175regulation of RNA export from nucleus (GO:0046831)2.16433666
176regulation of sequestering of triglyceride (GO:0010889)2.16093900
177pteridine-containing compound biosynthetic process (GO:0042559)2.16074745
178DNA damage response, detection of DNA damage (GO:0042769)2.16005415
179apoptotic cell clearance (GO:0043277)2.15526396
180nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.15271552
181cellular potassium ion homeostasis (GO:0030007)2.15228234
182protein deneddylation (GO:0000338)2.15062799
183gene silencing by RNA (GO:0031047)2.14919082
184mitotic metaphase plate congression (GO:0007080)2.14608635
185RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.14566301
186kidney morphogenesis (GO:0060993)2.14389112
187folic acid-containing compound biosynthetic process (GO:0009396)2.13604016
188positive regulation of macroautophagy (GO:0016239)2.12734273
189regulation of short-term neuronal synaptic plasticity (GO:0048172)2.12636640
190alanine transport (GO:0032328)2.12431017
191protein prenylation (GO:0018342)2.12225220
192prenylation (GO:0097354)2.12225220
193pyruvate metabolic process (GO:0006090)2.12095681
194dorsal/ventral axis specification (GO:0009950)2.11960214
195protein hydroxylation (GO:0018126)2.11523697

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.17740345
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.66273805
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.89295975
4E2F4_17652178_ChIP-ChIP_JURKAT_Human2.81165027
5ZNF263_19887448_ChIP-Seq_K562_Human2.70276937
6NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.68250210
7EST1_17652178_ChIP-ChIP_JURKAT_Human2.66769214
8GABP_17652178_ChIP-ChIP_JURKAT_Human2.64491263
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.56225123
10ELK1_19687146_ChIP-ChIP_HELA_Human2.52522255
11EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.38378744
12ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.37625233
13ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.32616585
14SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.32260281
15* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.27358795
16STAT6_21828071_ChIP-Seq_BEAS2B_Human2.24590655
17FUS_26573619_Chip-Seq_HEK293_Human2.10284357
18ZFP281_18757296_ChIP-ChIP_E14_Mouse1.99055738
19HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.95577075
20CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.93309419
21RXR_22158963_ChIP-Seq_LIVER_Mouse1.87480806
22PADI4_21655091_ChIP-ChIP_MCF-7_Human1.86807713
23TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.86616519
24E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.86246684
25LXR_22158963_ChIP-Seq_LIVER_Mouse1.85774822
26KDM2B_26808549_Chip-Seq_DND41_Human1.83648767
27POU3F2_20337985_ChIP-ChIP_501MEL_Human1.83295650
28PPARA_22158963_ChIP-Seq_LIVER_Mouse1.82371182
29TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.82273642
30MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.81597180
31MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.81308755
32EWS_26573619_Chip-Seq_HEK293_Human1.79298447
33NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.78388765
34ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.77408773
35NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.77115484
36CREB1_15753290_ChIP-ChIP_HEK293T_Human1.77101197
37FLI1_27457419_Chip-Seq_LIVER_Mouse1.76552508
38PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.75504865
39ZFP281_27345836_Chip-Seq_ESCs_Mouse1.75161350
40CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.74973876
41KDM2B_26808549_Chip-Seq_K562_Human1.69950007
42AR_21909140_ChIP-Seq_LNCAP_Human1.69939381
43SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.69489497
44CLOCK_20551151_ChIP-Seq_293T_Human1.69236512
45PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.69086737
46FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.67533372
47ESR1_15608294_ChIP-ChIP_MCF-7_Human1.65527177
48KDM2B_26808549_Chip-Seq_SUP-B15_Human1.65472759
49GBX2_23144817_ChIP-Seq_PC3_Human1.65402248
50ZFP57_27257070_Chip-Seq_ESCs_Mouse1.61760463
51IGF1R_20145208_ChIP-Seq_DFB_Human1.61551870
52* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.61057613
53* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.59585642
54SALL1_21062744_ChIP-ChIP_HESCs_Human1.58765539
55ETS1_20019798_ChIP-Seq_JURKAT_Human1.58569418
56ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.56217129
57DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.55430396
58EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.54425548
59RARB_27405468_Chip-Seq_BRAIN_Mouse1.53335967
60FOXM1_23109430_ChIP-Seq_U2OS_Human1.52875757
61P300_19829295_ChIP-Seq_ESCs_Human1.50538115
62TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.50435321
63ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.50062861
64WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.49395413
65GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.48011560
66AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.47326232
67JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.45935966
68KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.45640040
69KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.43742838
70* TBX20_22328084_ChIP-Seq_HEART_Mouse1.42804632
71* TBX20_22080862_ChIP-Seq_HEART_Mouse1.42804632
72DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.41136997
73VDR_22108803_ChIP-Seq_LS180_Human1.40891447
74MYCN_18555785_ChIP-Seq_MESCs_Mouse1.40664710
75MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.39337421
76TCF7_22412390_ChIP-Seq_EML_Mouse1.38833590
77FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.37698852
78HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.37563601
79MYC_18940864_ChIP-ChIP_HL60_Human1.36874568
80RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.36545894
81* FOXA2_19822575_ChIP-Seq_HepG2_Human1.36198932
82ESR2_21235772_ChIP-Seq_MCF-7_Human1.34921944
83RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.34695921
84* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.34483015
85MYC_18555785_ChIP-Seq_MESCs_Mouse1.33961132
86DROSHA_22980978_ChIP-Seq_HELA_Human1.33758636
87E2F1_21310950_ChIP-Seq_MCF-7_Human1.32727509
88NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.32459527
89PCGF2_27294783_Chip-Seq_ESCs_Mouse1.32260587
90* LXR_22292898_ChIP-Seq_THP-1_Human1.31445527
91NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.30807197
92FOXO3_23340844_ChIP-Seq_DLD1_Human1.30633786
93KDM2B_26808549_Chip-Seq_JURKAT_Human1.30521825
94CTBP2_25329375_ChIP-Seq_LNCAP_Human1.30431602
95CREB1_26743006_Chip-Seq_LNCaP_Human1.30397930
96SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.28943822
97SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.28138123
98BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.27219520
99RARG_19884340_ChIP-ChIP_MEFs_Mouse1.27108024
100WT1_19549856_ChIP-ChIP_CCG9911_Human1.24889181
101ATF3_27146783_Chip-Seq_COLON_Human1.24733927
102SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.24501573
103CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.24446149
104PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.23992776
105EP300_21415370_ChIP-Seq_HL-1_Mouse1.23971525
106* VDR_23849224_ChIP-Seq_CD4+_Human1.23733389
107* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.23521567
108RUNX1_27514584_Chip-Seq_MCF-7_Human1.23486583
109RBPJ_22232070_ChIP-Seq_NCS_Mouse1.21656408
110* RACK7_27058665_Chip-Seq_MCF-7_Human1.20278946
111DCP1A_22483619_ChIP-Seq_HELA_Human1.17995007
112TAF15_26573619_Chip-Seq_HEK293_Human1.17978247
113GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.17942445
114TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.17010123
115SRF_21415370_ChIP-Seq_HL-1_Mouse1.16315457
116SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16304423
117THAP11_20581084_ChIP-Seq_MESCs_Mouse1.16208217
118EZH2_27294783_Chip-Seq_NPCs_Mouse1.16093470
119GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.15558931
120POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.15238832
121EGR1_19374776_ChIP-ChIP_THP-1_Human1.14963486
122POU5F1_16153702_ChIP-ChIP_HESCs_Human1.13998491
123SMAD4_21799915_ChIP-Seq_A2780_Human1.13926771
124TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.13546979
125MYC_22102868_ChIP-Seq_BL_Human1.13513537
126NOTCH1_21737748_ChIP-Seq_TLL_Human1.13481512
127FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.13461653
128ZNF274_21170338_ChIP-Seq_K562_Hela1.13182034
129TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12872173
130NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.12730776
131* FOXP3_21729870_ChIP-Seq_TREG_Human1.12650186
132* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.11864760
133MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.10938116
134NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.09766906
135EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.09180825
136ELK4_26923725_Chip-Seq_MESODERM_Mouse1.08600256
137SUZ12_27294783_Chip-Seq_NPCs_Mouse1.08195390
138NANOG_16153702_ChIP-ChIP_HESCs_Human1.07970737
139HIF1A_21447827_ChIP-Seq_MCF-7_Human1.07961496
140STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.06314626
141SMC4_20622854_ChIP-Seq_HELA_Human1.05748552
142TTF2_22483619_ChIP-Seq_HELA_Human1.05415727
143RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.04602667
144SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.04381763
145NFE2_27457419_Chip-Seq_LIVER_Mouse1.03864603
146EZH2_22144423_ChIP-Seq_EOC_Human1.03828098
147WT1_25993318_ChIP-Seq_PODOCYTE_Human1.03588060
148SMAD3_21741376_ChIP-Seq_EPCs_Human1.03382381
149ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.03039192
150MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.03029730
151PPAR_26484153_Chip-Seq_NCI-H1993_Human1.02784254
152NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.02575093
153STAT3_1855785_ChIP-Seq_MESCs_Mouse1.02058440
154NFIB_24661679_ChIP-Seq_LUNG_Mouse1.02014953
155STAT3_23295773_ChIP-Seq_U87_Human1.01373580
156KLF4_19829295_ChIP-Seq_ESCs_Human1.00228732
157HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.00222820
158POU5F1_16518401_ChIP-PET_MESCs_Mouse1.00169380
159RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.99722460
160SOX17_20123909_ChIP-Seq_XEN_Mouse0.99607611
161ISL1_27105846_Chip-Seq_CPCs_Mouse0.98905861
162OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.98573975
163ESR1_20079471_ChIP-ChIP_T-47D_Human0.98445654
164CTNNB1_20460455_ChIP-Seq_HCT116_Human0.98112344
165FOXM1_26456572_ChIP-Seq_MCF-7_Human0.98105339
166BCAT_22108803_ChIP-Seq_LS180_Human0.97995447
167FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.97729700
168CTBP1_25329375_ChIP-Seq_LNCAP_Human0.97579839
169TBX3_20139965_ChIP-Seq_ESCs_Mouse0.97508474
170ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.97083188
171NELFA_20434984_ChIP-Seq_ESCs_Mouse0.96137151
172TBX3_20139965_ChIP-Seq_MESCs_Mouse0.95953326
173TP53_22127205_ChIP-Seq_IMR90_Human0.95577080
174MYC_19079543_ChIP-ChIP_MESCs_Mouse0.94744072
175* KDM5A_27292631_Chip-Seq_BREAST_Human0.94591281
176* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.94401439
177SOX9_26525672_Chip-Seq_HEART_Mouse0.93935336
178BRD4_25478319_ChIP-Seq_HGPS_Human0.93770611
179TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.93345101
180CDX2_22108803_ChIP-Seq_LS180_Human0.92634593
181FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.92020739
182ELK3_25401928_ChIP-Seq_HUVEC_Human0.91929561
183SOX2_16153702_ChIP-ChIP_HESCs_Human0.91663140
184TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.91246573
185* PHF8_20622853_ChIP-Seq_HELA_Human0.91162789
186* E2F1_18555785_ChIP-Seq_MESCs_Mouse0.91141780
187TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.90881340
188NANOG_18555785_Chip-Seq_ESCs_Mouse0.90610042
189GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90577885
190* TP63_22573176_ChIP-Seq_HFKS_Human0.90472038
191P68_20966046_ChIP-Seq_HELA_Human0.90187899
192MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.89891455
193MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.89683639
194CBP_20019798_ChIP-Seq_JUKART_Human0.89526749
195IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.89526749
196KLF5_20875108_ChIP-Seq_MESCs_Mouse0.89402473

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003705_abnormal_hypodermis_morpholog4.06435292
2MP0003941_abnormal_skin_development2.88343189
3MP0004233_abnormal_muscle_weight2.73765171
4MP0005410_abnormal_fertilization2.67982344
5MP0004130_abnormal_muscle_cell2.62655226
6MP0002837_dystrophic_cardiac_calcinosis2.61724818
7MP0000751_myopathy2.49235591
8MP0008057_abnormal_DNA_replication2.46389361
9MP0010234_abnormal_vibrissa_follicle2.43892651
10MP0008877_abnormal_DNA_methylation2.37973496
11MP0004185_abnormal_adipocyte_glucose2.33200889
12MP0004084_abnormal_cardiac_muscle2.27318315
13MP0005666_abnormal_adipose_tissue2.25633435
14MP0005623_abnormal_meninges_morphology2.25510347
15MP0010094_abnormal_chromosome_stability2.22582688
16MP0005670_abnormal_white_adipose2.20966591
17MP0004859_abnormal_synaptic_plasticity2.20741106
18MP0008058_abnormal_DNA_repair2.19970251
19MP0003283_abnormal_digestive_organ2.05617563
20MP0005076_abnormal_cell_differentiation2.02828488
21MP0004087_abnormal_muscle_fiber2.01364842
22MP0003646_muscle_fatigue2.00638087
23MP0010352_gastrointestinal_tract_polyps2.00330359
24MP0002269_muscular_atrophy1.97805252
25MP0002163_abnormal_gland_morphology1.92016340
26MP0002938_white_spotting1.80464601
27MP0003111_abnormal_nucleus_morphology1.75871090
28MP0008961_abnormal_basal_metabolism1.72098305
29MP0005375_adipose_tissue_phenotype1.71726286
30MP0000747_muscle_weakness1.71042321
31MP0003195_calcinosis1.69775473
32MP0005379_endocrine/exocrine_gland_phen1.69645100
33MP0003937_abnormal_limbs/digits/tail_de1.68247191
34MP0009697_abnormal_copulation1.67524173
35MP0003786_premature_aging1.66683100
36MP0004036_abnormal_muscle_relaxation1.66128096
37MP0002139_abnormal_hepatobiliary_system1.64653804
38MP0004957_abnormal_blastocyst_morpholog1.64614446
39MP0003566_abnormal_cell_adhesion1.62826088
40MP0005360_urolithiasis1.61142521
41MP0009780_abnormal_chondrocyte_physiolo1.60252378
42MP0003718_maternal_effect1.58900849
43MP0000750_abnormal_muscle_regeneration1.58410814
44MP0002102_abnormal_ear_morphology1.55640938
45MP0008007_abnormal_cellular_replicative1.53810754
46MP0006072_abnormal_retinal_apoptosis1.53717600
47MP0004858_abnormal_nervous_system1.50646272
48MP0005330_cardiomyopathy1.50524750
49MP0004145_abnormal_muscle_electrophysio1.48836740
50MP0010630_abnormal_cardiac_muscle1.47982146
51MP0008438_abnormal_cutaneous_collagen1.43362110
52MP0004215_abnormal_myocardial_fiber1.41901635
53MP0003077_abnormal_cell_cycle1.38618285
54MP0003252_abnormal_bile_duct1.38338004
55MP0003121_genomic_imprinting1.37445387
56MP0000733_abnormal_muscle_development1.36006380
57MP0000003_abnormal_adipose_tissue1.35914893
58MP0002254_reproductive_system_inflammat1.34312654
59MP0002233_abnormal_nose_morphology1.33832177
60MP0001293_anophthalmia1.32651354
61MP0008932_abnormal_embryonic_tissue1.32604365
62MP0000759_abnormal_skeletal_muscle1.32373536
63MP0003787_abnormal_imprinting1.31131027
64MP0000427_abnormal_hair_cycle1.28975043
65MP0000749_muscle_degeneration1.28189412
66MP0003693_abnormal_embryo_hatching1.27950313
67MP0005646_abnormal_pituitary_gland1.27785604
68MP0003950_abnormal_plasma_membrane1.26151618
69MP0002106_abnormal_muscle_physiology1.24910975
70MP0005187_abnormal_penis_morphology1.24560213
71MP0001849_ear_inflammation1.24476525
72MP0003122_maternal_imprinting1.23241822
73MP0001529_abnormal_vocalization1.22412626
74MP0005365_abnormal_bile_salt1.22149023
75MP0005275_abnormal_skin_tensile1.21901080
76MP0004133_heterotaxia1.21505802
77MP0010307_abnormal_tumor_latency1.20556968
78MP0003045_fibrosis1.19391293
79MP0008775_abnormal_heart_ventricle1.19029173
80MP0005620_abnormal_muscle_contractility1.18404519
81MP0002909_abnormal_adrenal_gland1.16883918
82MP0002653_abnormal_ependyma_morphology1.16808460
83MP0006292_abnormal_olfactory_placode1.16476337
84MP0003329_amyloid_beta_deposits1.15112163
85MP0010329_abnormal_lipoprotein_level1.13855663
86MP0004197_abnormal_fetal_growth/weight/1.12451028
87MP0005085_abnormal_gallbladder_physiolo1.12385119
88MP0003755_abnormal_palate_morphology1.11770424
89MP0006138_congestive_heart_failure1.11003454
90MP0003300_gastrointestinal_ulcer1.10989540
91MP0010030_abnormal_orbit_morphology1.09777830
92MP0000647_abnormal_sebaceous_gland1.09746870
93MP0000631_abnormal_neuroendocrine_gland1.09396791
94MP0004147_increased_porphyrin_level1.09240646
95MP0002971_abnormal_brown_adipose1.09127805
96MP0006035_abnormal_mitochondrial_morpho1.08605842
97MP0003221_abnormal_cardiomyocyte_apopto1.08332969
98MP0000013_abnormal_adipose_tissue1.06942299
99MP0001730_embryonic_growth_arrest1.06931862
100MP0000372_irregular_coat_pigmentation1.06879429
101MP0003698_abnormal_male_reproductive1.05518555
102MP0002084_abnormal_developmental_patter1.05358010
103MP0002697_abnormal_eye_size1.04834097
104MP0005369_muscle_phenotype1.03560426
105MP0002090_abnormal_vision1.03015820
106MP0000569_abnormal_digit_pigmentation1.00892700
107MP0009672_abnormal_birth_weight1.00680158
108MP0002088_abnormal_embryonic_growth/wei1.00654500
109MP0003984_embryonic_growth_retardation1.00620685
110MP0003943_abnormal_hepatobiliary_system1.00205339
111MP0005395_other_phenotype1.00160389
112MP0003942_abnormal_urinary_system0.99236487
113MP0003091_abnormal_cell_migration0.99044762
114MP0002085_abnormal_embryonic_tissue0.99014549
115MP0001984_abnormal_olfaction0.98191147
116MP0004270_analgesia0.97730567
117MP0001672_abnormal_embryogenesis/_devel0.97712495
118MP0005380_embryogenesis_phenotype0.97712495
119MP0001544_abnormal_cardiovascular_syste0.95991526
120MP0005385_cardiovascular_system_phenoty0.95991526
121MP0002086_abnormal_extraembryonic_tissu0.95816874
122MP0002108_abnormal_muscle_morphology0.93357647
123MP0002972_abnormal_cardiac_muscle0.93347220
124MP0002160_abnormal_reproductive_system0.93017819
125MP0001299_abnormal_eye_distance/0.92783167
126MP0000537_abnormal_urethra_morphology0.91854380
127MP0001944_abnormal_pancreas_morphology0.90847350
128MP0003137_abnormal_impulse_conducting0.90803898
129MP0002234_abnormal_pharynx_morphology0.90745228
130MP0005645_abnormal_hypothalamus_physiol0.90590135
131MP0001661_extended_life_span0.89826642
132MP0003115_abnormal_respiratory_system0.89197997
133MP0001286_abnormal_eye_development0.87963501
134MP0003935_abnormal_craniofacial_develop0.87394345
135MP0000266_abnormal_heart_morphology0.87351339
136MP0009053_abnormal_anal_canal0.87263420
137MP0010678_abnormal_skin_adnexa0.87179888
138MP0000613_abnormal_salivary_gland0.86941249
139MP0004484_altered_response_of0.86629541
140MP0009703_decreased_birth_body0.85137049
141MP0005367_renal/urinary_system_phenotyp0.84828020
142MP0000516_abnormal_urinary_system0.84828020
143MP0001929_abnormal_gametogenesis0.84711857
144MP0002210_abnormal_sex_determination0.83119495
145MP0002118_abnormal_lipid_homeostasis0.82857140
146MP0003635_abnormal_synaptic_transmissio0.81885502
147MP0004134_abnormal_chest_morphology0.81539878
148MP0008770_decreased_survivor_rate0.80247259
149MP0002876_abnormal_thyroid_physiology0.79689996
150MP0003567_abnormal_fetal_cardiomyocyte0.79638739
151MP0003890_abnormal_embryonic-extraembry0.79469303
152MP0008789_abnormal_olfactory_epithelium0.79152389
153MP0009115_abnormal_fat_cell0.79008788
154MP0004085_abnormal_heartbeat0.78918937
155MP0003385_abnormal_body_wall0.78646428
156MP0002751_abnormal_autonomic_nervous0.78320392
157MP0004272_abnormal_basement_membrane0.78079400
158MP0005253_abnormal_eye_physiology0.77584627
159MP0002877_abnormal_melanocyte_morpholog0.76552053
160MP0003119_abnormal_digestive_system0.76444792
161MP0001697_abnormal_embryo_size0.76047738
162MP0003123_paternal_imprinting0.75586199
163MP0004885_abnormal_endolymph0.75448243
164MP0005220_abnormal_exocrine_pancreas0.75351695
165MP0002896_abnormal_bone_mineralization0.74960973
166MP0002168_other_aberrant_phenotype0.74256828
167MP0000358_abnormal_cell_content/0.72902087
168MP0004264_abnormal_extraembryonic_tissu0.72800838
169MP0000350_abnormal_cell_proliferation0.72769997

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the lower motor neuron (HP:0002366)3.78525469
2Hyperinsulinemic hypoglycemia (HP:0000825)3.75220040
3Hyporeflexia of lower limbs (HP:0002600)3.64201776
4Hypoglycemic seizures (HP:0002173)3.58710516
5Difficulty running (HP:0009046)3.57635110
6Exercise-induced muscle cramps (HP:0003710)3.41006549
7Exercise-induced myalgia (HP:0003738)3.18738041
8Hypoglycemic coma (HP:0001325)3.13084941
9Dysmetric saccades (HP:0000641)3.07168552
10Difficulty climbing stairs (HP:0003551)3.05425417
11Increased connective tissue (HP:0009025)3.05279382
12Glioma (HP:0009733)2.91458390
13Upper limb amyotrophy (HP:0009129)2.89817263
14Distal upper limb amyotrophy (HP:0007149)2.89817263
15Abnormality of the labia minora (HP:0012880)2.87505927
16Aqueductal stenosis (HP:0002410)2.84569831
17Abnormality of the pancreatic islet cells (HP:0006476)2.84233086
18Abnormality of endocrine pancreas physiology (HP:0012093)2.84233086
19Bundle branch block (HP:0011710)2.83235717
20Sudden death (HP:0001699)2.82295885
21Myoglobinuria (HP:0002913)2.78340107
22Cerebral aneurysm (HP:0004944)2.73314694
23Pancreatic islet-cell hyperplasia (HP:0004510)2.71485769
24Chromosomal breakage induced by crosslinking agents (HP:0003221)2.70502731
25Muscle fiber splitting (HP:0003555)2.65019210
26Hand muscle atrophy (HP:0009130)2.63373836
27Hyperglycemia (HP:0003074)2.61297654
28Chromsome breakage (HP:0040012)2.59387265
29Abnormality of the Achilles tendon (HP:0005109)2.56989074
30Achilles tendon contracture (HP:0001771)2.56039578
31Intestinal atresia (HP:0011100)2.52634650
32Neoplasm of the adrenal cortex (HP:0100641)2.51055248
33Colon cancer (HP:0003003)2.47854973
34Shallow orbits (HP:0000586)2.46145456
35Ketoacidosis (HP:0001993)2.41937737
36Prominent metopic ridge (HP:0005487)2.40204262
37Symptomatic seizures (HP:0011145)2.39243423
38Heterotopia (HP:0002282)2.37609287
39Macroorchidism (HP:0000053)2.37472568
40Volvulus (HP:0002580)2.36302792
41Right ventricular cardiomyopathy (HP:0011663)2.35210044
42Protrusio acetabuli (HP:0003179)2.32559819
43Meckel diverticulum (HP:0002245)2.31228042
44Abnormality of the metopic suture (HP:0005556)2.31166014
45Rhabdomyosarcoma (HP:0002859)2.29940147
46EMG: neuropathic changes (HP:0003445)2.28248015
47Aplasia/Hypoplasia of the uvula (HP:0010293)2.28190754
48Abnormality of the astrocytes (HP:0100707)2.27849698
49Astrocytoma (HP:0009592)2.27849698
50Abnormality of the ileum (HP:0001549)2.26904406
51Resting tremor (HP:0002322)2.26864112
52Abnormality of methionine metabolism (HP:0010901)2.26744456
53Meningioma (HP:0002858)2.25254921
54Type 1 muscle fiber predominance (HP:0003803)2.22699594
55Abdominal situs inversus (HP:0003363)2.22531401
56Abnormality of abdominal situs (HP:0011620)2.22531401
57Neoplasm of the peripheral nervous system (HP:0100007)2.20349120
58Increased variability in muscle fiber diameter (HP:0003557)2.20205579
59Termporal pattern (HP:0011008)2.14965491
60Insidious onset (HP:0003587)2.14965491
61Hyperacusis (HP:0010780)2.14927590
62Pancreatic cysts (HP:0001737)2.14909665
63Neuroendocrine neoplasm (HP:0100634)2.14187945
64Asymmetric septal hypertrophy (HP:0001670)2.14181830
65Lymphangioma (HP:0100764)2.12962264
66Male infertility (HP:0003251)2.11920386
67Ectopic kidney (HP:0000086)2.11089667
68Benign neoplasm of the central nervous system (HP:0100835)2.10498289
69Global brain atrophy (HP:0002283)2.10309656
70Turricephaly (HP:0000262)2.09349338
71Sensory axonal neuropathy (HP:0003390)2.07975871
72Abnormality of chromosome stability (HP:0003220)2.06691489
73Enlarged penis (HP:0000040)2.06361679
74Pheochromocytoma (HP:0002666)2.04454482
75Hypoplasia of the pons (HP:0012110)2.01299682
76Atrioventricular block (HP:0001678)1.99464791
77Abnormality of the pons (HP:0007361)1.97273538
78Abnormality of the preputium (HP:0100587)1.97153763
79Aneurysm (HP:0002617)1.96918446
80Cerebral inclusion bodies (HP:0100314)1.96855529
81Acute encephalopathy (HP:0006846)1.95241748
82Congenital malformation of the right heart (HP:0011723)1.95216534
83Double outlet right ventricle (HP:0001719)1.95216534
84Genu recurvatum (HP:0002816)1.95013036
85Hamartoma of the eye (HP:0010568)1.94042945
86Acute necrotizing encephalopathy (HP:0006965)1.94026439
87Labial hypoplasia (HP:0000066)1.93922664
88Mitral valve prolapse (HP:0001634)1.92908796
89Increased hepatocellular lipid droplets (HP:0006565)1.92591871
90Ependymoma (HP:0002888)1.91055997
91Progressive macrocephaly (HP:0004481)1.90663654
92Hypoplastic female external genitalia (HP:0012815)1.89664914
93Methylmalonic acidemia (HP:0002912)1.88269664
94Lower limb amyotrophy (HP:0007210)1.88039579
95Hypoplastic labia majora (HP:0000059)1.87955101
96Lipid accumulation in hepatocytes (HP:0006561)1.87809045
97Abnormal biliary tract morphology (HP:0012440)1.87773219
98Elfin facies (HP:0004428)1.85968106
99Deep venous thrombosis (HP:0002625)1.85826544
100Scapular winging (HP:0003691)1.85509189
101Ankle contracture (HP:0006466)1.85420757
102Abnormality of skeletal muscle fiber size (HP:0012084)1.84683884
103Hepatoblastoma (HP:0002884)1.83820699
104Fibroma (HP:0010614)1.83375662
105Urinary bladder sphincter dysfunction (HP:0002839)1.83223007
106Abnormality of aspartate family amino acid metabolism (HP:0010899)1.83133978
107Visual hallucinations (HP:0002367)1.82800471
108Absent thumb (HP:0009777)1.81863698
109Renovascular hypertension (HP:0100817)1.81636618
110Abnormality of homocysteine metabolism (HP:0010919)1.81246535
111Homocystinuria (HP:0002156)1.81246535
112Heart block (HP:0012722)1.81122315
113Mildly elevated creatine phosphokinase (HP:0008180)1.80243778
114Pancreatic fibrosis (HP:0100732)1.79981569
115Bifid tongue (HP:0010297)1.79958694
116Type I transferrin isoform profile (HP:0003642)1.79694589
117Hypothermia (HP:0002045)1.79568567
118Ventricular fibrillation (HP:0001663)1.79480379
119Frequent falls (HP:0002359)1.78472742
120Subaortic stenosis (HP:0001682)1.77888935
121Abnormality of the left ventricular outflow tract (HP:0011103)1.77888935
122Rapidly progressive (HP:0003678)1.77683856
123High anterior hairline (HP:0009890)1.77317978
124EMG: myopathic abnormalities (HP:0003458)1.77251323
125Ventricular tachycardia (HP:0004756)1.76992201
126Abnormality of the calf musculature (HP:0001430)1.76202949
127Abnormality of the duodenum (HP:0002246)1.75959976
128Biliary tract neoplasm (HP:0100574)1.75125115
129Hypoalphalipoproteinemia (HP:0003233)1.74618790
130Neoplasm of the adrenal gland (HP:0100631)1.74365877
131Calf muscle hypertrophy (HP:0008981)1.73728350
132Rhabdomyolysis (HP:0003201)1.73578494
133Gastrointestinal atresia (HP:0002589)1.73552052
134Abnormal atrioventricular conduction (HP:0005150)1.73271486
135Impaired vibration sensation in the lower limbs (HP:0002166)1.73109433
136Back pain (HP:0003418)1.72985743
137Hypomagnesemia (HP:0002917)1.72738650
138Type II lissencephaly (HP:0007260)1.72565608
139Fibrous tissue neoplasm (HP:0012316)1.72466421
140Large for gestational age (HP:0001520)1.71902722
141Premature rupture of membranes (HP:0001788)1.71813834
142Abnormality of the labia majora (HP:0012881)1.71169001
143Urinary urgency (HP:0000012)1.69728983
144Abnormal sex determination (HP:0012244)1.69487498
145Sex reversal (HP:0012245)1.69487498
146Spastic diplegia (HP:0001264)1.68586639
147Buphthalmos (HP:0000557)1.68217215
148Neoplasm of the heart (HP:0100544)1.67604668
149Ventricular arrhythmia (HP:0004308)1.67601543
150Broad metatarsal (HP:0001783)1.67531479
151Postural instability (HP:0002172)1.67258361
152Impaired social interactions (HP:0000735)1.66959543
153Abnormal social behavior (HP:0012433)1.66959543
154Long toe (HP:0010511)1.66861064
155Small intestinal stenosis (HP:0012848)1.66528988
156Duodenal stenosis (HP:0100867)1.66528988
157Insomnia (HP:0100785)1.66368813
158Round ear (HP:0100830)1.64654863
159Bowel diverticulosis (HP:0005222)1.64650042
160Amyotrophic lateral sclerosis (HP:0007354)1.64007274
161Breast carcinoma (HP:0003002)1.63809765
162Ketosis (HP:0001946)1.63705718
163Pseudobulbar signs (HP:0002200)1.63021540
164Gout (HP:0001997)1.61483595
165Cutaneous melanoma (HP:0012056)1.61283215
166Muscle hypertrophy of the lower extremities (HP:0008968)1.61144138
167Limb-girdle muscle weakness (HP:0003325)1.60879536
168Subacute progressive viral hepatitis (HP:0006572)1.60725533
169Neoplasm of striated muscle (HP:0009728)1.60488512
170Increased CSF lactate (HP:0002490)1.59599578
171Adrenal hypoplasia (HP:0000835)1.59274684
172Abnormality of glycolysis (HP:0004366)1.58479367
173Intellectual disability, profound (HP:0002187)1.57315256
174Skin nodule (HP:0200036)1.56867968
175Myotonia (HP:0002486)1.56796517
176Bladder diverticulum (HP:0000015)1.56536323
177Dysdiadochokinesis (HP:0002075)1.55523744
178Pointed chin (HP:0000307)1.55360963
179Neoplasm of the oral cavity (HP:0100649)1.55183717
180EEG with generalized epileptiform discharges (HP:0011198)1.54915527
181Neoplasm of the small intestine (HP:0100833)1.54489131
182Pelvic girdle muscle weakness (HP:0003749)1.54473479
183Hypopigmentation of the fundus (HP:0007894)1.54339678
184Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.53646810
185Abnormal protein N-linked glycosylation (HP:0012347)1.53646810
186Abnormal protein glycosylation (HP:0012346)1.53646810
187Abnormal glycosylation (HP:0012345)1.53646810
188Abnormality of the intrinsic pathway (HP:0010989)1.52892370
189Hypsarrhythmia (HP:0002521)1.52384613
190Sclerocornea (HP:0000647)1.51407177
191Median cleft lip (HP:0000161)1.51348768
192Abnormality of sulfur amino acid metabolism (HP:0004339)1.49348853
193Sloping forehead (HP:0000340)1.49341557

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK43.50583469
2PDK33.50583469
3TRIB33.47458617
4WNK33.21495497
5FRK3.09735557
6PRKD32.76174218
7PKN22.75850989
8BUB12.64104894
9NUAK12.63234877
10CDK122.59979861
11TTN2.55051363
12EIF2AK32.52045388
13BRSK22.46653640
14EIF2AK12.34702405
15MST42.32412680
16ICK2.32088531
17RIPK12.31588053
18LATS22.26387597
19PLK32.25807141
20TSSK62.16102940
21LATS12.15055810
22MAP3K92.09965144
23NEK12.07376895
24ZAK2.06718575
25PDK22.04109624
26TNIK1.80063429
27PDGFRA1.79509483
28TYRO31.78800782
29EEF2K1.78335543
30STK381.76549883
31PLK21.73945102
32MKNK21.70185878
33PBK1.63943276
34WEE11.63840063
35BMPR1B1.58332902
36KSR21.55231625
37PAK61.52692826
38STK391.52568212
39TRIM281.51280978
40VRK21.48930542
41CAMK1G1.43380283
42ALK1.41404335
43CAMK1D1.41217404
44MAP3K41.39384167
45DDR21.35540246
46VRK11.35143759
47SIK11.35065979
48BRSK11.34916973
49CASK1.34017156
50PLK41.31205288
51BMX1.27003004
52ACVR1B1.24036450
53ERBB31.23172900
54MTOR1.22460808
55LMTK21.21404171
56MKNK11.18011488
57PHKG21.16504717
58PHKG11.16504717
59SCYL21.15848390
60SRPK11.15294466
61MAP3K101.13103625
62AKT31.13009463
63DMPK1.11050560
64TAF11.10878236
65MAP2K41.10869551
66MAP4K21.08264510
67RET1.07310847
68PTK61.05331601
69PLK11.05315317
70PNCK1.04860570
71GRK11.03040074
72CSNK1G11.02014964
73CAMKK11.01036091
74TESK10.98239899
75NTRK30.95680894
76NLK0.91713627
77PAK30.86135410
78PDK10.85512670
79PTK2B0.84949676
80TAOK10.82799002
81MAP3K20.82782341
82WNK10.82480376
83BCR0.80972975
84ERN10.80396142
85MAP3K70.80302094
86EIF2AK20.80293962
87NEK20.79395068
88PRKCH0.79381968
89PDGFRB0.79342129
90CDK60.78862146
91PAK20.77311404
92CHEK20.76895835
93NTRK10.76198839
94NME10.75279723
95STK30.75176755
96PRKAA10.74066100
97PDPK10.73856310
98MARK10.73224642
99CSNK1G20.72351575
100ATM0.71896210
101CSNK1A1L0.71478974
102MINK10.70557326
103PTK20.70531995
104PRKCE0.69332307
105NTRK20.69323943
106DAPK20.68029210
107KSR10.68015017
108CSNK1G30.67020567
109FGFR20.65790147
110ERBB40.65657662
111SGK30.64990839
112TRPM70.64586879
113ATR0.63322402
114STK40.62816241
115FGFR10.62810725
116TTK0.62316359
117STK38L0.62230080
118STK160.61921436
119CLK10.61481903
120MAP3K60.60857025
121MYLK0.60420707
122OXSR10.60341729
123STK110.60050336
124FER0.59885002
125TGFBR10.58266299
126TLK10.55434683
127PASK0.54786410
128CDC42BPA0.54094353
129SIK20.53236892
130AURKB0.51831314
131MELK0.51164260
132WNK40.51030038
133INSRR0.50398355
134PAK40.48670352
135MAPKAPK50.48184918
136OBSCN0.44270057
137EPHA20.43979587
138RPS6KA30.42678468
139CSNK1D0.42022884
140CSNK1E0.41660038
141MAP3K120.41370403
142MARK20.40672465
143MAPK130.40247965
144MAPK100.40182834
145MAP3K50.39193520
146DYRK1B0.39072214
147MET0.38788962
148STK240.38670024
149ROCK10.38071288
150CDC70.38005891
151PINK10.37971370
152PRKD10.37854301
153PRKCI0.37469440
154AKT20.37109808
155SGK10.36383179
156BRD40.36036522
157PRKCG0.35974281
158CDK10.34868783
159FLT30.34672824
160MAP2K10.33755028
161MUSK0.33557732
162EPHA40.33187973
163CHEK10.33098686
164FGFR30.32792530
165CDK40.32763662
166CAMK10.32716229
167FGFR40.32566029
168PRKAA20.32180454
169GSK3A0.32097713
170CDK50.30347708
171CAMK40.28992995

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009103.37206218
2Protein export_Homo sapiens_hsa030602.73854058
3Mismatch repair_Homo sapiens_hsa034302.68676639
4Proteasome_Homo sapiens_hsa030502.66070850
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.58419280
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.58281417
7Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.35688832
8Non-homologous end-joining_Homo sapiens_hsa034502.33763040
92-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.25815870
10Maturity onset diabetes of the young_Homo sapiens_hsa049502.24209288
11Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.20984226
12Fatty acid elongation_Homo sapiens_hsa000622.20269854
13RNA polymerase_Homo sapiens_hsa030202.20066349
14Fanconi anemia pathway_Homo sapiens_hsa034602.07848200
15Fatty acid biosynthesis_Homo sapiens_hsa000612.07078923
16Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.04751173
17DNA replication_Homo sapiens_hsa030301.92374132
18Homologous recombination_Homo sapiens_hsa034401.88824597
19Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.85043623
20One carbon pool by folate_Homo sapiens_hsa006701.82270000
21RNA transport_Homo sapiens_hsa030131.81919956
22Propanoate metabolism_Homo sapiens_hsa006401.78935445
23Arginine biosynthesis_Homo sapiens_hsa002201.75201159
24RNA degradation_Homo sapiens_hsa030181.74539592
25Basal transcription factors_Homo sapiens_hsa030221.64822147
26Nucleotide excision repair_Homo sapiens_hsa034201.63091546
27Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.62971412
28mTOR signaling pathway_Homo sapiens_hsa041501.56256787
29Fatty acid degradation_Homo sapiens_hsa000711.55503982
30Glucagon signaling pathway_Homo sapiens_hsa049221.55433433
31Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.53152450
32Fatty acid metabolism_Homo sapiens_hsa012121.51989506
33PPAR signaling pathway_Homo sapiens_hsa033201.50240053
34Carbon metabolism_Homo sapiens_hsa012001.46233325
35Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.44659601
36Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.42339232
37Pyruvate metabolism_Homo sapiens_hsa006201.38120579
38Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.35902724
39Steroid biosynthesis_Homo sapiens_hsa001001.35745930
40Biosynthesis of amino acids_Homo sapiens_hsa012301.34563664
41Dorso-ventral axis formation_Homo sapiens_hsa043201.33201314
42Bile secretion_Homo sapiens_hsa049761.32325546
43Cell cycle_Homo sapiens_hsa041101.32201422
44Oxidative phosphorylation_Homo sapiens_hsa001901.30086910
45Dilated cardiomyopathy_Homo sapiens_hsa054141.27256569
46Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.24971665
47Lysine degradation_Homo sapiens_hsa003101.24410312
48Central carbon metabolism in cancer_Homo sapiens_hsa052301.22104816
49AMPK signaling pathway_Homo sapiens_hsa041521.21224498
50Insulin resistance_Homo sapiens_hsa049311.17911919
51Type II diabetes mellitus_Homo sapiens_hsa049301.16520841
52Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.14818155
53Circadian rhythm_Homo sapiens_hsa047101.14282834
54Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.13675594
55Pyrimidine metabolism_Homo sapiens_hsa002401.13297074
56Insulin signaling pathway_Homo sapiens_hsa049101.12914991
57Long-term potentiation_Homo sapiens_hsa047201.11456764
58Butanoate metabolism_Homo sapiens_hsa006501.10137149
59Adipocytokine signaling pathway_Homo sapiens_hsa049201.09904053
60Parkinsons disease_Homo sapiens_hsa050121.09690516
61Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.09648592
62Purine metabolism_Homo sapiens_hsa002301.08834267
63Longevity regulating pathway - mammal_Homo sapiens_hsa042111.07958386
64Estrogen signaling pathway_Homo sapiens_hsa049151.07911188
65Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.07613567
66Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.05832731
67Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.05822139
68Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.05714521
69Thyroid hormone signaling pathway_Homo sapiens_hsa049191.03485979
70Glioma_Homo sapiens_hsa052141.01510874
71Adherens junction_Homo sapiens_hsa045201.00169903
72Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.99998951
73Hedgehog signaling pathway_Homo sapiens_hsa043400.97601299
74Huntingtons disease_Homo sapiens_hsa050160.91841358
75Gastric acid secretion_Homo sapiens_hsa049710.91477158
76mRNA surveillance pathway_Homo sapiens_hsa030150.90870889
77Glycerolipid metabolism_Homo sapiens_hsa005610.89751773
78p53 signaling pathway_Homo sapiens_hsa041150.89017536
79Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.87965572
80Oocyte meiosis_Homo sapiens_hsa041140.86811666
81Aldosterone synthesis and secretion_Homo sapiens_hsa049250.86734998
82Focal adhesion_Homo sapiens_hsa045100.85455732
83Renin secretion_Homo sapiens_hsa049240.83578982
84Endometrial cancer_Homo sapiens_hsa052130.83372314
85TGF-beta signaling pathway_Homo sapiens_hsa043500.82582263
86Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.82161799
87Insulin secretion_Homo sapiens_hsa049110.81806651
88Proteoglycans in cancer_Homo sapiens_hsa052050.80798520
89Glutathione metabolism_Homo sapiens_hsa004800.80484282
90Spliceosome_Homo sapiens_hsa030400.80423040
91cGMP-PKG signaling pathway_Homo sapiens_hsa040220.80339590
92Oxytocin signaling pathway_Homo sapiens_hsa049210.80273205
93Vitamin B6 metabolism_Homo sapiens_hsa007500.79826563
94Tryptophan metabolism_Homo sapiens_hsa003800.79517876
95Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.79252320
96Primary bile acid biosynthesis_Homo sapiens_hsa001200.78306744
97VEGF signaling pathway_Homo sapiens_hsa043700.77767427
98Carbohydrate digestion and absorption_Homo sapiens_hsa049730.77751030
99Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.75840470
100Folate biosynthesis_Homo sapiens_hsa007900.73509560
101Tight junction_Homo sapiens_hsa045300.72915417
102Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.72865707
103Basal cell carcinoma_Homo sapiens_hsa052170.72608896
104Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.71756696
105GnRH signaling pathway_Homo sapiens_hsa049120.71400346
106Base excision repair_Homo sapiens_hsa034100.71349212
107N-Glycan biosynthesis_Homo sapiens_hsa005100.71287482
108Amphetamine addiction_Homo sapiens_hsa050310.69524851
109Synaptic vesicle cycle_Homo sapiens_hsa047210.68915866
110Hippo signaling pathway_Homo sapiens_hsa043900.68084422
111Phosphatidylinositol signaling system_Homo sapiens_hsa040700.67727922
112Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.67235978
113Selenocompound metabolism_Homo sapiens_hsa004500.67197726
114Wnt signaling pathway_Homo sapiens_hsa043100.67010154
115Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.65732221
116Alzheimers disease_Homo sapiens_hsa050100.64769711
117Salivary secretion_Homo sapiens_hsa049700.64238278
118Gap junction_Homo sapiens_hsa045400.63996905
119beta-Alanine metabolism_Homo sapiens_hsa004100.63147110
120Non-small cell lung cancer_Homo sapiens_hsa052230.60814843
121Renal cell carcinoma_Homo sapiens_hsa052110.60777787
122Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.60751219
123Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.60403560
124Metabolic pathways_Homo sapiens_hsa011000.59658493
125HIF-1 signaling pathway_Homo sapiens_hsa040660.59218549
126Circadian entrainment_Homo sapiens_hsa047130.59072538
127Caffeine metabolism_Homo sapiens_hsa002320.59063728
128Amoebiasis_Homo sapiens_hsa051460.58987341
129Thyroid hormone synthesis_Homo sapiens_hsa049180.58659619
130Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.58214173
131Cardiac muscle contraction_Homo sapiens_hsa042600.57959573
132Chronic myeloid leukemia_Homo sapiens_hsa052200.57589802
133Dopaminergic synapse_Homo sapiens_hsa047280.56936146
134ErbB signaling pathway_Homo sapiens_hsa040120.56344691
135cAMP signaling pathway_Homo sapiens_hsa040240.55654232
136Phototransduction_Homo sapiens_hsa047440.55511865
137Fat digestion and absorption_Homo sapiens_hsa049750.55324879
138Bladder cancer_Homo sapiens_hsa052190.53061059
139Neurotrophin signaling pathway_Homo sapiens_hsa047220.52779045
140Fructose and mannose metabolism_Homo sapiens_hsa000510.52712739
141Cysteine and methionine metabolism_Homo sapiens_hsa002700.52309159
142Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.52046360
143Melanogenesis_Homo sapiens_hsa049160.51339307
144Peroxisome_Homo sapiens_hsa041460.50967858
145Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.50715087
146Phospholipase D signaling pathway_Homo sapiens_hsa040720.50004502
147GABAergic synapse_Homo sapiens_hsa047270.48765341
148Olfactory transduction_Homo sapiens_hsa047400.48311275
149Inositol phosphate metabolism_Homo sapiens_hsa005620.48059387
150Prion diseases_Homo sapiens_hsa050200.46981693
151Cholinergic synapse_Homo sapiens_hsa047250.46651693
152MicroRNAs in cancer_Homo sapiens_hsa052060.46262120
153Vascular smooth muscle contraction_Homo sapiens_hsa042700.44836152
154Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.41391802
155Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.38745011
156Ether lipid metabolism_Homo sapiens_hsa005650.38218464
157Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.36722266
158Regulation of autophagy_Homo sapiens_hsa041400.36471923
159Vibrio cholerae infection_Homo sapiens_hsa051100.35931593
160Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.35829904
161Prostate cancer_Homo sapiens_hsa052150.33747427
162Melanoma_Homo sapiens_hsa052180.33421433
163Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.33190349
164Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.31861281
165Sulfur metabolism_Homo sapiens_hsa009200.31667565
166Thyroid cancer_Homo sapiens_hsa052160.30826742
167Collecting duct acid secretion_Homo sapiens_hsa049660.30127014

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