AP4S1

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





Description: This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.25593616
2mitochondrial electron transport, NADH to ubiquinone (GO:0006120)6.02939968
3energy coupled proton transport, down electrochemical gradient (GO:0015985)5.87124576
4ATP synthesis coupled proton transport (GO:0015986)5.87124576
5respiratory electron transport chain (GO:0022904)5.65019546
6electron transport chain (GO:0022900)5.51817589
7behavioral response to nicotine (GO:0035095)5.43283538
8oxidative phosphorylation (GO:0006119)5.02534011
9fucose catabolic process (GO:0019317)4.52437737
10L-fucose metabolic process (GO:0042354)4.52437737
11L-fucose catabolic process (GO:0042355)4.52437737
12tryptophan catabolic process (GO:0006569)4.30063718
13indole-containing compound catabolic process (GO:0042436)4.30063718
14indolalkylamine catabolic process (GO:0046218)4.30063718
15DNA deamination (GO:0045006)4.19975963
16tricarboxylic acid cycle (GO:0006099)4.19442885
17positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.15023973
18indolalkylamine metabolic process (GO:0006586)4.11366938
19regulation of relaxation of muscle (GO:1901077)4.10751282
20protein complex biogenesis (GO:0070271)4.08752473
21kynurenine metabolic process (GO:0070189)4.05605523
22regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.04496659
23regulation of cell communication by electrical coupling (GO:0010649)3.93495593
24regulation of acyl-CoA biosynthetic process (GO:0050812)3.87454874
25NADH metabolic process (GO:0006734)3.87248897
26regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.86235788
27regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.83844382
28mitochondrial respiratory chain complex assembly (GO:0033108)3.81390262
29sarcoplasmic reticulum calcium ion transport (GO:0070296)3.77759396
30mitochondrial respiratory chain complex I assembly (GO:0032981)3.77685984
31NADH dehydrogenase complex assembly (GO:0010257)3.77685984
32mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.77685984
33detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.72693031
34regulation of coenzyme metabolic process (GO:0051196)3.72263402
35regulation of cofactor metabolic process (GO:0051193)3.72263402
36respiratory chain complex IV assembly (GO:0008535)3.69647274
37inner mitochondrial membrane organization (GO:0007007)3.68904280
38tryptophan metabolic process (GO:0006568)3.66792257
39detection of light stimulus involved in sensory perception (GO:0050962)3.61000327
40detection of light stimulus involved in visual perception (GO:0050908)3.61000327
41aerobic respiration (GO:0009060)3.60869104
42negative regulation of cytosolic calcium ion concentration (GO:0051481)3.60783509
43piRNA metabolic process (GO:0034587)3.60367808
44regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.59064086
45regulation of mitochondrial translation (GO:0070129)3.56872694
46neuronal action potential propagation (GO:0019227)3.50295965
47succinate metabolic process (GO:0006105)3.50178511
48regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.49601992
49ATP biosynthetic process (GO:0006754)3.48901489
50cytochrome complex assembly (GO:0017004)3.48863543
51regulation of oxidative phosphorylation (GO:0002082)3.48750254
52actin-myosin filament sliding (GO:0033275)3.46732805
53muscle filament sliding (GO:0030049)3.46732805
54cardiac muscle contraction (GO:0060048)3.44225530
55response to pheromone (GO:0019236)3.42782427
56neural tube formation (GO:0001841)3.36180688
57chaperone-mediated protein transport (GO:0072321)3.32320764
58negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.32270966
59negative regulation of calcium ion transmembrane transport (GO:1903170)3.32270966
60indole-containing compound metabolic process (GO:0042430)3.29995203
61negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.28245360
62gamma-aminobutyric acid transport (GO:0015812)3.27393078
63quinone biosynthetic process (GO:1901663)3.23333853
64ubiquinone biosynthetic process (GO:0006744)3.23333853
65synaptic vesicle exocytosis (GO:0016079)3.22247760
66purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.21914118
67sarcomere organization (GO:0045214)3.18987522
68protein K11-linked deubiquitination (GO:0035871)3.17195550
69cellular ketone body metabolic process (GO:0046950)3.14856455
70purine nucleoside triphosphate biosynthetic process (GO:0009145)3.13650039
71neuronal action potential (GO:0019228)3.13172536
72membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.13011817
73behavioral response to ethanol (GO:0048149)3.12231736
74sulfation (GO:0051923)3.11490229
75L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.10949964
76regulation of cellular respiration (GO:0043457)3.08630914
77water-soluble vitamin biosynthetic process (GO:0042364)3.08331590
78hydrogen ion transmembrane transport (GO:1902600)3.07080967
79negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.06033526
80cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.05675930
81regulation of sulfur metabolic process (GO:0042762)3.04801321
82heart contraction (GO:0060047)3.04656246
83heart process (GO:0003015)3.04656246
84primary amino compound metabolic process (GO:1901160)3.03485830
85epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.02277630
86regulation of hippo signaling (GO:0035330)2.97457520
87positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.97014756
88retinal cone cell development (GO:0046549)2.95933145
89negative regulation of cation channel activity (GO:2001258)2.95622399
90cornea development in camera-type eye (GO:0061303)2.91568633
91platelet dense granule organization (GO:0060155)2.90056568
92cellular biogenic amine catabolic process (GO:0042402)2.89979138
93amine catabolic process (GO:0009310)2.89979138
94negative regulation of potassium ion transmembrane transport (GO:1901380)2.89593025
95negative regulation of telomere maintenance (GO:0032205)2.89540917
96galactose catabolic process (GO:0019388)2.88880604
97regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.86906466
98ribonucleoside triphosphate biosynthetic process (GO:0009201)2.86743253
99serotonin metabolic process (GO:0042428)2.85897795
100kidney morphogenesis (GO:0060993)2.85177962
101striated muscle contraction (GO:0006941)2.83787444
102ketone body metabolic process (GO:1902224)2.82111400
103photoreceptor cell maintenance (GO:0045494)2.80816088
104axoneme assembly (GO:0035082)2.80681073
105antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.79603793
106regulation of actin filament-based movement (GO:1903115)2.79499677
107regulation of skeletal muscle contraction (GO:0014819)2.79483336
108guanosine-containing compound biosynthetic process (GO:1901070)2.78862489
109ubiquinone metabolic process (GO:0006743)2.77591536
110establishment of protein localization to mitochondrial membrane (GO:0090151)2.77503684
111regulation of calcium ion transmembrane transport (GO:1903169)2.77466287
112regulation of calcium ion transmembrane transporter activity (GO:1901019)2.77466287
113detection of calcium ion (GO:0005513)2.77322590
114reflex (GO:0060004)2.75910245
115regulation of membrane repolarization (GO:0060306)2.75612019
116negative regulation of synaptic transmission, GABAergic (GO:0032229)2.75141936
117cAMP catabolic process (GO:0006198)2.74554744
118cytidine deamination (GO:0009972)2.74381644
119cytidine metabolic process (GO:0046087)2.74381644
120cytidine catabolic process (GO:0006216)2.74381644
121regulation of rhodopsin mediated signaling pathway (GO:0022400)2.72996056
122positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.72296396
123rhodopsin mediated signaling pathway (GO:0016056)2.71674171
124GMP metabolic process (GO:0046037)2.71414942
125auditory receptor cell stereocilium organization (GO:0060088)2.69950711
126purine nucleoside monophosphate biosynthetic process (GO:0009127)2.69882196
127purine ribonucleoside monophosphate biosynthetic process (GO:0009168)2.69882196
128DNA methylation involved in gamete generation (GO:0043046)2.69746544
129regulation of voltage-gated calcium channel activity (GO:1901385)2.68700198
130protein targeting to mitochondrion (GO:0006626)2.68625698
131negative regulation of mast cell activation (GO:0033004)2.68183633
132preassembly of GPI anchor in ER membrane (GO:0016254)2.67474370
133G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.66695523
134cilium or flagellum-dependent cell motility (GO:0001539)2.66654279
135deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.66117890
136reciprocal meiotic recombination (GO:0007131)2.65452734
137reciprocal DNA recombination (GO:0035825)2.65452734
138protein-cofactor linkage (GO:0018065)2.65355578
139regulation of ATPase activity (GO:0043462)2.65208512
140regulation of ATP catabolic process (GO:1903289)2.65208512
141negative regulation of ion transmembrane transporter activity (GO:0032413)2.64987297
142establishment of protein localization to mitochondrion (GO:0072655)2.64661947
143nucleoside triphosphate biosynthetic process (GO:0009142)2.63428580
144proline transport (GO:0015824)2.62418718
145iron-sulfur cluster assembly (GO:0016226)2.61409623
146metallo-sulfur cluster assembly (GO:0031163)2.61409623
147negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.61062947
148negative regulation of translation, ncRNA-mediated (GO:0040033)2.61062947
149regulation of translation, ncRNA-mediated (GO:0045974)2.61062947
150membrane depolarization during action potential (GO:0086010)2.60960048
151myofibril assembly (GO:0030239)2.60873618
152phosphatidylinositol acyl-chain remodeling (GO:0036149)2.59357704
153cardiac myofibril assembly (GO:0055003)2.58259323
154pyrimidine ribonucleoside catabolic process (GO:0046133)2.57431080
155regulation of action potential (GO:0098900)2.57190884
156negative regulation of reactive oxygen species metabolic process (GO:2000378)2.56007265
157mitochondrion degradation (GO:0000422)2.55599308
158proton transport (GO:0015992)2.54955940
159protein localization to mitochondrion (GO:0070585)2.53842811
160negative regulation of systemic arterial blood pressure (GO:0003085)2.53135681
161hydrogen transport (GO:0006818)2.52613223
162actin-mediated cell contraction (GO:0070252)2.51211350
163rRNA catabolic process (GO:0016075)2.50871067
164protein polyglutamylation (GO:0018095)2.50714074
165cyclic nucleotide catabolic process (GO:0009214)2.50522737
166cellular response to ATP (GO:0071318)2.50507063
167generation of precursor metabolites and energy (GO:0006091)2.50018274
168nonmotile primary cilium assembly (GO:0035058)2.49670468
169NAD biosynthetic process (GO:0009435)2.49090247
170regulation of posttranscriptional gene silencing (GO:0060147)2.47282875
171regulation of gene silencing by miRNA (GO:0060964)2.47282875
172regulation of gene silencing by RNA (GO:0060966)2.47282875
173dopamine transport (GO:0015872)2.46635094
174positive regulation of defense response to virus by host (GO:0002230)2.45908572
175neurotransmitter metabolic process (GO:0042133)2.45497712
176double-strand break repair via homologous recombination (GO:0000724)2.45415008
177recombinational repair (GO:0000725)2.45386010
178cilium morphogenesis (GO:0060271)2.44702789
179adaptation of signaling pathway (GO:0023058)2.44414596
180protein localization to cilium (GO:0061512)2.43386563
181mannosylation (GO:0097502)2.42973763
182regulation of glucokinase activity (GO:0033131)2.42612446
183regulation of hexokinase activity (GO:1903299)2.42612446
184aromatic amino acid family catabolic process (GO:0009074)2.42314153
185regulation of nuclear cell cycle DNA replication (GO:0033262)2.42135734
186positive regulation of oligodendrocyte differentiation (GO:0048714)2.40826467
187RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.40037266
188replication fork processing (GO:0031297)2.39404412
189photoreceptor cell development (GO:0042461)2.39359674
190epithelial cilium movement (GO:0003351)2.37742765
191nephron tubule morphogenesis (GO:0072078)2.37528028

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.75869575
2JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.71320279
3* ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.66172235
4NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.60465247
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.56437060
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.41613631
7GABP_17652178_ChIP-ChIP_JURKAT_Human3.32475917
8GBX2_23144817_ChIP-Seq_PC3_Human3.21889389
9EZH2_22144423_ChIP-Seq_EOC_Human3.15456882
10ETS1_20019798_ChIP-Seq_JURKAT_Human3.11210530
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.66059589
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.63231670
13EST1_17652178_ChIP-ChIP_JURKAT_Human2.59843659
14ZFP57_27257070_Chip-Seq_ESCs_Mouse2.54978673
15PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.45499654
16CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.37189482
17POU3F2_20337985_ChIP-ChIP_501MEL_Human2.35298161
18THAP11_20581084_ChIP-Seq_MESCs_Mouse2.32791049
19SRF_21415370_ChIP-Seq_HL-1_Mouse2.31265247
20FLI1_27457419_Chip-Seq_LIVER_Mouse2.28348953
21HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.28224101
22VDR_23849224_ChIP-Seq_CD4+_Human2.26636479
23SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.24987889
24IGF1R_20145208_ChIP-Seq_DFB_Human2.23544982
25CTBP2_25329375_ChIP-Seq_LNCAP_Human2.16433970
26ZNF263_19887448_ChIP-Seq_K562_Human2.13618539
27CREB1_15753290_ChIP-ChIP_HEK293T_Human2.09915460
28MYC_18358816_ChIP-ChIP_MESCs_Mouse2.03601580
29CTBP1_25329375_ChIP-Seq_LNCAP_Human2.02162418
30* MYC_18555785_ChIP-Seq_MESCs_Mouse2.01844324
31EWS_26573619_Chip-Seq_HEK293_Human2.01429056
32* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse2.01407071
33P300_19829295_ChIP-Seq_ESCs_Human1.98980757
34PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.97503242
35ER_23166858_ChIP-Seq_MCF-7_Human1.91402815
36FUS_26573619_Chip-Seq_HEK293_Human1.89841570
37FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.88139336
38YY1_21170310_ChIP-Seq_MESCs_Mouse1.87419297
39NOTCH1_21737748_ChIP-Seq_TLL_Human1.87290342
40FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.86870520
41PCGF2_27294783_Chip-Seq_ESCs_Mouse1.86765488
42GABP_19822575_ChIP-Seq_HepG2_Human1.83593445
43TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.83520285
44CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.83461540
45SALL1_21062744_ChIP-ChIP_HESCs_Human1.74207634
46FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.74198098
47* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.71368375
48BCAT_22108803_ChIP-Seq_LS180_Human1.70116715
49EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.70086267
50AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.69502791
51TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.67766061
52STAT3_23295773_ChIP-Seq_U87_Human1.66890762
53IRF1_19129219_ChIP-ChIP_H3396_Human1.64075030
54SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.63609570
55ELF1_17652178_ChIP-ChIP_JURKAT_Human1.61099436
56TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.59107709
57POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.59107709
58DCP1A_22483619_ChIP-Seq_HELA_Human1.58466572
59UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.58031854
60YY1_22570637_ChIP-Seq_MALME-3M_Human1.56179576
61SMAD4_21799915_ChIP-Seq_A2780_Human1.54493393
62TCF4_23295773_ChIP-Seq_U87_Human1.54461239
63RBPJ_22232070_ChIP-Seq_NCS_Mouse1.54160072
64MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.54130742
65* SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.52578995
66FOXP3_21729870_ChIP-Seq_TREG_Human1.51523668
67* TP53_22573176_ChIP-Seq_HFKS_Human1.51499943
68GATA1_22025678_ChIP-Seq_K562_Human1.50890909
69CBP_20019798_ChIP-Seq_JUKART_Human1.50765123
70IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.50765123
71BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.49561857
72PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.48820388
73PCGF2_27294783_Chip-Seq_NPCs_Mouse1.47897310
74MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.47245947
75PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.46525998
76PIAS1_25552417_ChIP-Seq_VCAP_Human1.45140960
77AR_25329375_ChIP-Seq_VCAP_Human1.44919041
78PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.44774838
79SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40621752
80ZNF274_21170338_ChIP-Seq_K562_Hela1.40235828
81SRY_22984422_ChIP-ChIP_TESTIS_Rat1.37424604
82NR3C1_21868756_ChIP-Seq_MCF10A_Human1.37179376
83* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.36519582
84RARB_27405468_Chip-Seq_BRAIN_Mouse1.35382667
85* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.35101610
86XRN2_22483619_ChIP-Seq_HELA_Human1.35049735
87MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.34408868
88SUZ12_27294783_Chip-Seq_NPCs_Mouse1.33608053
89LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.33070315
90CTCF_18555785_ChIP-Seq_MESCs_Mouse1.32690832
91NANOG_19829295_ChIP-Seq_ESCs_Human1.32652769
92SOX2_19829295_ChIP-Seq_ESCs_Human1.32652769
93EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.31482242
94AR_21572438_ChIP-Seq_LNCaP_Human1.30634213
95EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.29531699
96SMAD3_21741376_ChIP-Seq_EPCs_Human1.27700849
97EZH2_27294783_Chip-Seq_NPCs_Mouse1.27693209
98NFE2_27457419_Chip-Seq_LIVER_Mouse1.27479129
99FLI1_21867929_ChIP-Seq_TH2_Mouse1.27465166
100TCF4_22108803_ChIP-Seq_LS180_Human1.26693883
101REST_18959480_ChIP-ChIP_MESCs_Mouse1.26489102
102TOP2B_26459242_ChIP-Seq_MCF-7_Human1.24942829
103SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.24563340
104FOXA1_25329375_ChIP-Seq_VCAP_Human1.24319774
105FOXA1_27270436_Chip-Seq_PROSTATE_Human1.24319774
106PRDM14_20953172_ChIP-Seq_ESCs_Human1.24022083
107BMI1_23680149_ChIP-Seq_NPCS_Mouse1.22629967
108CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.21916269
109SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.21662997
110* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.21274990
111RUNX2_22187159_ChIP-Seq_PCA_Human1.21158979
112RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.20572519
113HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.18961618
114ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.18861747
115* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.18566032
116GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.18311318
117SMAD4_21741376_ChIP-Seq_EPCs_Human1.17713988
118OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16574241
119GATA3_21878914_ChIP-Seq_MCF-7_Human1.16425935
120SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15822700
121TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.15707686
122GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.15196346
123KLF5_20875108_ChIP-Seq_MESCs_Mouse1.15096071
124CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.14934121
125FOXA1_21572438_ChIP-Seq_LNCaP_Human1.14914191
126* CIITA_25753668_ChIP-Seq_RAJI_Human1.14846446
127REST_21632747_ChIP-Seq_MESCs_Mouse1.13445098
128CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.13316717
129SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.13029278
130RNF2_27304074_Chip-Seq_NSC_Mouse1.11646637
131ETV2_25802403_ChIP-Seq_MESCs_Mouse1.11165992
132GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10880735
133* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.10473707
134CBX2_27304074_Chip-Seq_ESCs_Mouse1.09576192
135* CRX_20693478_ChIP-Seq_RETINA_Mouse1.09262003
136* NCOR_22424771_ChIP-Seq_293T_Human1.08554325
137VDR_22108803_ChIP-Seq_LS180_Human1.08163776
138HOXB7_26014856_ChIP-Seq_BT474_Human1.08092754
139* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.07163257
140IRF8_22096565_ChIP-ChIP_GC-B_Human1.06737207
141TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.06301873
142NANOG_18555785_Chip-Seq_ESCs_Mouse1.05474858
143CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.04791606
144TBX5_21415370_ChIP-Seq_HL-1_Mouse1.04668711
145DROSHA_22980978_ChIP-Seq_HELA_Human1.04442066
146* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.04340075
147TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.03683192
148EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.02972393
149P53_22387025_ChIP-Seq_ESCs_Mouse1.02948597
150BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.01299256
151ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.01083943
152AR_20517297_ChIP-Seq_VCAP_Human1.00978555
153TTF2_22483619_ChIP-Seq_HELA_Human0.99847117
154BCL6_27268052_Chip-Seq_Bcells_Human0.99642315
155* TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.99001900
156FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98677845
157TAF2_19829295_ChIP-Seq_ESCs_Human0.98383020
158CDX2_22108803_ChIP-Seq_LS180_Human0.98049242
159TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.97851391
160NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.97118344
161BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.96988531
162EGR1_23403033_ChIP-Seq_LIVER_Mouse0.96056999
163STAT3_18555785_Chip-Seq_ESCs_Mouse0.95529255
164SOX2_21211035_ChIP-Seq_LN229_Gbm0.95479657
165CTCF_26484167_Chip-Seq_Bcells_Mouse0.94877207
166YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.93823704
167MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.93123329
168PU.1_20513432_ChIP-Seq_Bcells_Mouse0.92226688
169RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.91984292
170ELK1_22589737_ChIP-Seq_MCF10A_Human0.91862396
171STAT4_19710469_ChIP-ChIP_TH1__Mouse0.91006235
172CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.90157068
173IKZF1_21737484_ChIP-ChIP_HCT116_Human0.89967604
174MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.89643490
175THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.88116598
176SPI1_23547873_ChIP-Seq_NB4_Human0.86961737
177* FOXP1_21924763_ChIP-Seq_HESCs_Human0.85662491
178SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.84644086
179TET1_21451524_ChIP-Seq_MESCs_Mouse0.84394974
180MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.83920331
181NANOG_18555785_ChIP-Seq_MESCs_Mouse0.82764842
182SA1_27219007_Chip-Seq_Bcells_Human0.80567860
183CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.79704484
184RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.79668444
185ERA_21632823_ChIP-Seq_H3396_Human0.77818495
186MYC_18940864_ChIP-ChIP_HL60_Human0.77710718
187ERG_20517297_ChIP-Seq_VCAP_Human0.76576433
188TAF15_26573619_Chip-Seq_HEK293_Human0.76360295

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue4.55974309
2MP0002837_dystrophic_cardiac_calcinosis3.89739040
3MP0004145_abnormal_muscle_electrophysio3.63759885
4MP0000569_abnormal_digit_pigmentation3.46610797
5MP0004215_abnormal_myocardial_fiber3.41306134
6MP0000751_myopathy3.31148397
7MP0004859_abnormal_synaptic_plasticity3.14846805
8MP0004084_abnormal_cardiac_muscle3.03027456
9MP0003880_abnormal_central_pattern2.94824367
10MP0000749_muscle_degeneration2.94496350
11MP0006036_abnormal_mitochondrial_physio2.88284944
12MP0008877_abnormal_DNA_methylation2.78972425
13MP0004036_abnormal_muscle_relaxation2.76976701
14MP0005330_cardiomyopathy2.70945111
15MP0003195_calcinosis2.70172705
16MP0001984_abnormal_olfaction2.49259762
17MP0002102_abnormal_ear_morphology2.26568313
18MP0008872_abnormal_physiological_respon2.25416510
19MP0000747_muscle_weakness2.13199226
20MP0002909_abnormal_adrenal_gland2.12054049
21MP0003787_abnormal_imprinting2.11800094
22MP0003635_abnormal_synaptic_transmissio2.05831170
23MP0004484_altered_response_of2.02777741
24MP0002106_abnormal_muscle_physiology1.98574440
25MP0002876_abnormal_thyroid_physiology1.98310460
26MP0006035_abnormal_mitochondrial_morpho1.91729039
27MP0005646_abnormal_pituitary_gland1.90202587
28MP0003137_abnormal_impulse_conducting1.82500433
29MP0005620_abnormal_muscle_contractility1.81194832
30MP0005645_abnormal_hypothalamus_physiol1.78566885
31MP0002972_abnormal_cardiac_muscle1.78400301
32MP0004130_abnormal_muscle_cell1.74537914
33MP0009745_abnormal_behavioral_response1.73658680
34MP0004087_abnormal_muscle_fiber1.70180610
35MP0002272_abnormal_nervous_system1.66722172
36MP0004147_increased_porphyrin_level1.64894181
37MP0002822_catalepsy1.63770990
38MP0005253_abnormal_eye_physiology1.63744765
39MP0008875_abnormal_xenobiotic_pharmacok1.63634798
40MP0002064_seizures1.61678705
41MP0008569_lethality_at_weaning1.61412175
42MP0004270_analgesia1.58647518
43MP0006072_abnormal_retinal_apoptosis1.57258322
44MP0000427_abnormal_hair_cycle1.55011969
45MP0003221_abnormal_cardiomyocyte_apopto1.51636271
46MP0000750_abnormal_muscle_regeneration1.51633084
47MP0001529_abnormal_vocalization1.50457845
48MP0005174_abnormal_tail_pigmentation1.49079469
49MP0001485_abnormal_pinna_reflex1.48715586
50MP0005167_abnormal_blood-brain_barrier1.48309210
51MP0002653_abnormal_ependyma_morphology1.46958221
52MP0004885_abnormal_endolymph1.46679965
53MP0002269_muscular_atrophy1.46207727
54MP0009046_muscle_twitch1.46014355
55MP0005385_cardiovascular_system_phenoty1.43665049
56MP0001544_abnormal_cardiovascular_syste1.43665049
57MP0006292_abnormal_olfactory_placode1.42076383
58MP0001968_abnormal_touch/_nociception1.41049699
59MP0002063_abnormal_learning/memory/cond1.39789837
60MP0004133_heterotaxia1.38276063
61MP0004085_abnormal_heartbeat1.37704579
62MP0005369_muscle_phenotype1.37667708
63MP0004510_myositis1.35184655
64MP0001905_abnormal_dopamine_level1.34570634
65MP0003879_abnormal_hair_cell1.32934866
66MP0008775_abnormal_heart_ventricle1.26866530
67MP0004742_abnormal_vestibular_system1.25704330
68MP0005671_abnormal_response_to1.24249770
69MP0002138_abnormal_hepatobiliary_system1.23969664
70MP0000631_abnormal_neuroendocrine_gland1.22876456
71MP0001501_abnormal_sleep_pattern1.22257034
72MP0003136_yellow_coat_color1.21839142
73MP0000759_abnormal_skeletal_muscle1.19879113
74MP0010234_abnormal_vibrissa_follicle1.18603076
75MP0002938_white_spotting1.17496940
76MP0003828_pulmonary_edema1.17166035
77MP0003011_delayed_dark_adaptation1.14848985
78MP0002332_abnormal_exercise_endurance1.12922414
79MP0003693_abnormal_embryo_hatching1.12010712
80MP0005423_abnormal_somatic_nervous1.11583986
81MP0001188_hyperpigmentation1.09903567
82MP0002572_abnormal_emotion/affect_behav1.09723459
83MP0004142_abnormal_muscle_tone1.09316428
84MP0002735_abnormal_chemical_nociception1.08145305
85MP0001986_abnormal_taste_sensitivity1.08101671
86MP0002734_abnormal_mechanical_nocicepti1.06780078
87MP0006138_congestive_heart_failure1.06298465
88MP0002928_abnormal_bile_duct1.06041165
89MP0002160_abnormal_reproductive_system1.06035791
90MP0005389_reproductive_system_phenotype1.05957937
91MP0010386_abnormal_urinary_bladder1.03652765
92MP0005551_abnormal_eye_electrophysiolog1.00494102
93MP0003252_abnormal_bile_duct1.00419919
94MP0001919_abnormal_reproductive_system1.00269676
95MP0005084_abnormal_gallbladder_morpholo0.99861538
96MP0002736_abnormal_nociception_after0.97663965
97MP0005535_abnormal_body_temperature0.95764347
98MP0000383_abnormal_hair_follicle0.95481570
99MP0003763_abnormal_thymus_physiology0.95075353
100MP0002067_abnormal_sensory_capabilities0.94871136
101MP0000013_abnormal_adipose_tissue0.94716911
102MP0005195_abnormal_posterior_eye0.92617085
103MP0001970_abnormal_pain_threshold0.92361698
104MP0006276_abnormal_autonomic_nervous0.91828271
105MP0002095_abnormal_skin_pigmentation0.90435244
106MP0002229_neurodegeneration0.90104855
107MP0005075_abnormal_melanosome_morpholog0.89722100
108MP0003950_abnormal_plasma_membrane0.88996874
109MP0005085_abnormal_gallbladder_physiolo0.88658235
110MP0000230_abnormal_systemic_arterial0.88499583
111MP0010630_abnormal_cardiac_muscle0.87268105
112MP0001440_abnormal_grooming_behavior0.87127739
113MP0004233_abnormal_muscle_weight0.87021089
114MP0001486_abnormal_startle_reflex0.85713445
115MP0003890_abnormal_embryonic-extraembry0.85663082
116MP0003718_maternal_effect0.84623552
117MP0005451_abnormal_body_composition0.84255778
118MP0004924_abnormal_behavior0.81809391
119MP0005386_behavior/neurological_phenoty0.81809391
120MP0000372_irregular_coat_pigmentation0.80913519
121MP0009764_decreased_sensitivity_to0.80077047
122MP0002638_abnormal_pupillary_reflex0.79288994
123MP0001963_abnormal_hearing_physiology0.78636182
124MP0009785_altered_susceptibility_to0.78551038
125MP0005410_abnormal_fertilization0.78452810
126MP0000685_abnormal_immune_system0.76713713
127MP0001853_heart_inflammation0.76368867
128MP0003698_abnormal_male_reproductive0.75663307
129MP0008961_abnormal_basal_metabolism0.75659753
130MP0003633_abnormal_nervous_system0.75556866
131MP0003656_abnormal_erythrocyte_physiolo0.75545997
132MP0002752_abnormal_somatic_nervous0.75478888
133MP0002693_abnormal_pancreas_physiology0.75241448
134MP0005448_abnormal_energy_balance0.74756041
135MP0004043_abnormal_pH_regulation0.74177316
136MP0010329_abnormal_lipoprotein_level0.71989780
137MP0005332_abnormal_amino_acid0.71736111
138MP0002127_abnormal_cardiovascular_syste0.71192505
139MP0001502_abnormal_circadian_rhythm0.70800698
140MP0002066_abnormal_motor_capabilities/c0.70372849
141MP0000015_abnormal_ear_pigmentation0.69741259
142MP0002557_abnormal_social/conspecific_i0.69601316
143MP0002184_abnormal_innervation0.69417485
144MP0005584_abnormal_enzyme/coenzyme_acti0.69195240
145MP0001835_abnormal_antigen_presentation0.67700699
146MP0003121_genomic_imprinting0.67379325
147MP0001664_abnormal_digestion0.67166184
148MP0001324_abnormal_eye_pigmentation0.66746527
149MP0002733_abnormal_thermal_nociception0.66253461
150MP0000343_altered_response_to0.65237145
151MP0003866_abnormal_defecation0.64771273
152MP0002234_abnormal_pharynx_morphology0.64618986
153MP0002163_abnormal_gland_morphology0.64266711
154MP0005266_abnormal_metabolism0.62616633
155MP0004811_abnormal_neuron_physiology0.62495488

Predicted human phenotypes

RankGene SetZ-score
1Abnormal mitochondria in muscle tissue (HP:0008316)5.33367947
2Acute necrotizing encephalopathy (HP:0006965)5.31095776
3Mitochondrial inheritance (HP:0001427)4.82008580
4Hepatocellular necrosis (HP:0001404)4.75086254
5Abnormality of pyruvate family amino acid metabolism (HP:0010915)4.65157237
6Abnormality of alanine metabolism (HP:0010916)4.65157237
7Hyperalaninemia (HP:0003348)4.65157237
8Pancreatic cysts (HP:0001737)4.54461389
9Acute encephalopathy (HP:0006846)4.54295823
10Progressive macrocephaly (HP:0004481)4.50228818
11Hepatic necrosis (HP:0002605)4.46383612
12Increased CSF lactate (HP:0002490)4.39395638
13Focal motor seizures (HP:0011153)4.18064590
14Exercise-induced myalgia (HP:0003738)4.13121574
15Pancreatic fibrosis (HP:0100732)4.07590286
16Molar tooth sign on MRI (HP:0002419)4.01038308
17Abnormality of midbrain morphology (HP:0002418)4.01038308
18Increased intramyocellular lipid droplets (HP:0012240)3.91146509
19Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.88124066
20Decreased activity of mitochondrial respiratory chain (HP:0008972)3.88124066
21True hermaphroditism (HP:0010459)3.82616077
22Hyperventilation (HP:0002883)3.68777923
23Increased muscle lipid content (HP:0009058)3.66945243
24Exercise intolerance (HP:0003546)3.63796928
25Sudden death (HP:0001699)3.61115270
26Lactic acidosis (HP:0003128)3.58817033
27Calf muscle hypertrophy (HP:0008981)3.57972026
28Visual hallucinations (HP:0002367)3.57325751
29Muscle hypertrophy of the lower extremities (HP:0008968)3.52593187
30Nephronophthisis (HP:0000090)3.52352836
31Type II lissencephaly (HP:0007260)3.36615342
32Abnormality of the renal cortex (HP:0011035)3.35203597
33Increased hepatocellular lipid droplets (HP:0006565)3.34184799
34Attenuation of retinal blood vessels (HP:0007843)3.29850002
35Increased serum lactate (HP:0002151)3.23846037
36Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.19191651
37Lipid accumulation in hepatocytes (HP:0006561)3.16925196
38Abnormality of the renal medulla (HP:0100957)3.14265621
39Cerebral edema (HP:0002181)3.13193149
40Gaze-evoked nystagmus (HP:0000640)3.12601412
41Progressive cerebellar ataxia (HP:0002073)3.11855030
42Palpitations (HP:0001962)3.08820030
43Chronic hepatic failure (HP:0100626)3.07673413
44Respiratory failure (HP:0002878)3.06058523
45Exercise-induced muscle cramps (HP:0003710)3.05528746
46Genetic anticipation (HP:0003743)3.01670419
47Myoglobinuria (HP:0002913)2.91698933
48Ragged-red muscle fibers (HP:0003200)2.88778462
49Syncope (HP:0001279)2.87545693
50Tubular atrophy (HP:0000092)2.86639910
51Increased serum pyruvate (HP:0003542)2.85437829
52Abnormality of glycolysis (HP:0004366)2.85437829
53Bundle branch block (HP:0011710)2.84651157
54Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.84207295
55Rhabdomyolysis (HP:0003201)2.83638642
56Abolished electroretinogram (ERG) (HP:0000550)2.80854761
57Optic disc pallor (HP:0000543)2.77804142
58Medial flaring of the eyebrow (HP:0010747)2.76815072
59Cystic liver disease (HP:0006706)2.75316598
60Protruding tongue (HP:0010808)2.72325407
61Ventricular tachycardia (HP:0004756)2.70385579
62Respiratory difficulties (HP:0002880)2.69557945
63Neuroendocrine neoplasm (HP:0100634)2.67211627
64Muscle fiber inclusion bodies (HP:0100299)2.62916609
65Lissencephaly (HP:0001339)2.62223499
66Atrial fibrillation (HP:0005110)2.58711291
67Ventricular fibrillation (HP:0001663)2.58101858
68Polydipsia (HP:0001959)2.57277887
69Abnormal drinking behavior (HP:0030082)2.57277887
70Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.55856612
71Broad-based gait (HP:0002136)2.53190750
72Abnormality of the calf musculature (HP:0001430)2.52421990
73Microvesicular hepatic steatosis (HP:0001414)2.52265671
74Supraventricular tachycardia (HP:0004755)2.51905007
75Nemaline bodies (HP:0003798)2.49292861
76Absence seizures (HP:0002121)2.48088492
77Myokymia (HP:0002411)2.47688117
78Pendular nystagmus (HP:0012043)2.47647810
79Primary atrial arrhythmia (HP:0001692)2.46853976
80Prolonged QT interval (HP:0001657)2.43318284
81Pheochromocytoma (HP:0002666)2.42330209
82Myopathic facies (HP:0002058)2.41312427
83Myotonia (HP:0002486)2.40911775
84Areflexia of lower limbs (HP:0002522)2.40230066
85Large for gestational age (HP:0001520)2.40133283
86Decreased central vision (HP:0007663)2.39877784
87Birth length less than 3rd percentile (HP:0003561)2.39761791
88Renal cortical cysts (HP:0000803)2.39685491
89Supraventricular arrhythmia (HP:0005115)2.38879158
90Muscle fiber splitting (HP:0003555)2.38068337
91Decreased electroretinogram (ERG) amplitude (HP:0000654)2.37598127
92Clumsiness (HP:0002312)2.37590417
93Leukodystrophy (HP:0002415)2.37359261
94Atonic seizures (HP:0010819)2.36083971
95Cerebellar dysplasia (HP:0007033)2.36062135
96Fair hair (HP:0002286)2.35820515
97CNS demyelination (HP:0007305)2.35545290
98Aplasia/Hypoplasia of the tibia (HP:0005772)2.35318621
99Emotional lability (HP:0000712)2.33588214
100Keratoconus (HP:0000563)2.33581714
101Increased corneal curvature (HP:0100692)2.33581714
102EMG: myopathic abnormalities (HP:0003458)2.27359309
103Dialeptic seizures (HP:0011146)2.25379592
104Abnormal rod and cone electroretinograms (HP:0008323)2.23813297
105Sclerocornea (HP:0000647)2.23444598
106Hypoplasia of the pons (HP:0012110)2.22342198
107Abnormal EKG (HP:0003115)2.22324336
108Furrowed tongue (HP:0000221)2.21881571
109Progressive muscle weakness (HP:0003323)2.21577629
110Abnormality of the pons (HP:0007361)2.20944688
111Exertional dyspnea (HP:0002875)2.20490868
112Stomach cancer (HP:0012126)2.20153648
113Gait imbalance (HP:0002141)2.19156249
114* Inability to walk (HP:0002540)2.15158027
115Decreased circulating renin level (HP:0003351)2.12761453
116Asymmetric septal hypertrophy (HP:0001670)2.12717964
117Heart block (HP:0012722)2.12537857
118Unsteady gait (HP:0002317)2.11972599
119Congenital hepatic fibrosis (HP:0002612)2.11934946
120Chorioretinal atrophy (HP:0000533)2.11612677
121Distal arthrogryposis (HP:0005684)2.10703665
122Absent/shortened dynein arms (HP:0200106)2.10702965
123Dynein arm defect of respiratory motile cilia (HP:0012255)2.10702965
124Lipoatrophy (HP:0100578)2.10668569
125Anencephaly (HP:0002323)2.10505362
126Absent speech (HP:0001344)2.09929767
127Patellar aplasia (HP:0006443)2.08112440
128Congenital, generalized hypertrichosis (HP:0004540)2.06943720
129Polyuria (HP:0000103)2.06751997
130Aplasia/Hypoplasia of the tongue (HP:0010295)2.06580931
131Congenital primary aphakia (HP:0007707)2.06343382
132Lethargy (HP:0001254)2.05321501
133Abnormal biliary tract physiology (HP:0012439)2.05227994
134Bile duct proliferation (HP:0001408)2.05227994
135Congenital sensorineural hearing impairment (HP:0008527)2.05071535
136Renal Fanconi syndrome (HP:0001994)2.04788627
137Thyroid-stimulating hormone excess (HP:0002925)2.01796445
138Ventricular arrhythmia (HP:0004308)2.01534253
139Nephrogenic diabetes insipidus (HP:0009806)2.01460795
140Left ventricular hypertrophy (HP:0001712)2.01372296
141Bony spicule pigmentary retinopathy (HP:0007737)2.01353177
142Atrioventricular block (HP:0001678)2.00349987
143Tinnitus (HP:0000360)2.00266372
144Congenital stationary night blindness (HP:0007642)1.99836151
145Hemiparesis (HP:0001269)1.98011240
146Severe muscular hypotonia (HP:0006829)1.97094327
147Conjunctival hamartoma (HP:0100780)1.97019900
148Abnormality of the left ventricular outflow tract (HP:0011103)1.96831433
149Subaortic stenosis (HP:0001682)1.96831433
150Hypothermia (HP:0002045)1.96720057
151Focal seizures (HP:0007359)1.96715693
152Male pseudohermaphroditism (HP:0000037)1.96425090
153Dicarboxylic aciduria (HP:0003215)1.95062309
154Abnormality of dicarboxylic acid metabolism (HP:0010995)1.95062309
155Aplasia/Hypoplasia of the patella (HP:0006498)1.94569105
156Rimmed vacuoles (HP:0003805)1.93962180
1573-Methylglutaconic aciduria (HP:0003535)1.93074704
158Absent rod-and cone-mediated responses on ERG (HP:0007688)1.92912704
159Muscle stiffness (HP:0003552)1.92659130
160Dilated cardiomyopathy (HP:0001644)1.92648245
161Generalized hypopigmentation of hair (HP:0011358)1.89631018
162Abnormal atrioventricular conduction (HP:0005150)1.85840383
163Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.85322669
164Gliosis (HP:0002171)1.83736057
165Abnormality of the labia minora (HP:0012880)1.82700300
166Hyperglycinemia (HP:0002154)1.81785220
167Athetosis (HP:0002305)1.81065954
168Anxiety (HP:0000739)1.80673536
169Pachygyria (HP:0001302)1.80228210
170Postaxial foot polydactyly (HP:0001830)1.79805279
171Widely spaced teeth (HP:0000687)1.79773864
172Small hand (HP:0200055)1.77125740
173Difficulty running (HP:0009046)1.77058829
174Genital tract atresia (HP:0001827)1.76722974
175Febrile seizures (HP:0002373)1.76606948
176Constricted visual fields (HP:0001133)1.71215176
177Stomatitis (HP:0010280)1.70502668
178Optic nerve hypoplasia (HP:0000609)1.70486762
179Vaginal atresia (HP:0000148)1.67757881
180Hypoplasia of the fovea (HP:0007750)1.66774105
181Aplasia/Hypoplasia of the fovea (HP:0008060)1.66774105
182Aplasia/Hypoplasia of the uvula (HP:0010293)1.65432083
183Methylmalonic aciduria (HP:0012120)1.64605934
184Abnormality of the renal collecting system (HP:0004742)1.64141783
185Abnormal respiratory epithelium morphology (HP:0012253)1.63200961
186Abnormal respiratory motile cilium morphology (HP:0005938)1.63200961
187Tachypnea (HP:0002789)1.62407263

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.30171223
2ADRBK23.79675554
3NME23.43963336
4MAP3K123.34474014
5BMPR1B3.26260393
6ACVR1B3.21057147
7PHKG13.00068667
8PHKG23.00068667
9ZAK2.72523452
10TAOK32.63184761
11PINK12.62266894
12MUSK2.57628798
13OBSCN2.50934384
14TNIK2.46212987
15MYLK2.44490589
16GRK12.39398541
17ARAF2.36742859
18MAP4K22.36511720
19CAMKK22.33420908
20BCKDK2.16206489
21CDK192.13252456
22NUAK12.13021747
23EPHA42.11340308
24WNK32.09320237
25WNK42.07916202
26INSRR2.03107062
27RIPK42.03062103
28NME11.96880362
29PDK41.95875061
30PDK31.95875061
31MAP2K71.88905321
32STK161.85006143
33CCNB11.84764157
34TXK1.79214805
35NTRK31.71534292
36BUB11.65674899
37OXSR11.61435844
38TTN1.45743891
39WEE11.42362906
40NEK11.39718876
41ADRBK11.39106999
42MKNK21.35238093
43LMTK21.33578765
44TRIB31.31644961
45STK391.30547075
46DAPK11.17044219
47MAP3K111.12166125
48EIF2AK11.11314267
49MARK11.10164717
50CASK1.08522653
51STK241.07234798
52MAP2K41.05712272
53CAMK2G1.04887340
54MAP3K91.03283042
55PAK31.01468646
56AKT31.00144514
57GRK51.00095650
58TGFBR10.99822238
59LIMK10.97871911
60MINK10.96226949
61ILK0.94460946
62EIF2AK30.94100111
63PRKCE0.93574270
64BRAF0.93561033
65CAMK10.87997042
66DAPK30.86271759
67CAMKK10.85263347
68PTK2B0.84033185
69RAF10.83264034
70CAMK2D0.82984212
71PDK20.80083805
72STK38L0.79816245
73VRK10.77490364
74SIK20.77321470
75CDK80.76868928
76KDR0.75985568
77CAMK2A0.75866016
78DYRK20.75795044
79FES0.75454239
80MAPKAPK30.75434350
81DYRK30.74336842
82TAOK10.73783116
83MAP3K50.73289021
84PLK20.71412122
85SYK0.70672803
86MAP3K130.69837761
87MAP3K70.69751500
88KSR20.69598685
89TIE10.68066340
90BRSK20.66773818
91TRIM280.66312230
92SCYL20.66126386
93STK110.66000030
94PIM20.65885045
95NTRK20.65773770
96BRSK10.65655857
97IKBKB0.63551959
98PRKCQ0.62644498
99NLK0.62578629
100CSNK1G10.62321804
101ZAP700.62148267
102TAOK20.61729122
103GRK70.60431435
104PDK10.59621577
105CDK50.58975176
106RPS6KA50.58439092
107MAPKAPK50.57772576
108CAMK2B0.57516939
109PRKCG0.56124592
110ITK0.55744645
111CSNK1A1L0.55640090
112TESK10.54412108
113PNCK0.54275834
114MAPK120.54240566
115KIT0.53425913
116SGK20.53144562
117PKN10.53087548
118PIK3CA0.52970275
119MAP3K40.52257436
120PDPK10.51940514
121IRAK10.51877120
122MKNK10.50355733
123MAP3K10.50158146
124TBK10.49771881
125MAP4K10.49401816
126RPS6KA40.49131532
127CSNK1G20.48936727
128PRKAA20.48756682
129CHUK0.46886921
130TNK20.46068782
131GRK60.45013756
132FGFR20.44153382
133TLK10.42892666
134MST40.42667370
135IKBKE0.42295861
136MAPK150.41647993
137TEC0.41099332
138STK30.40791636
139ABL20.39782931
140PIK3CG0.39113498
141PRKACA0.39097360
142MAP2K30.38772075
143PRKAA10.38460288
144CAMK40.38081443
145PRKD10.38025159
146PRKCI0.37502060
147PRKG20.36655325
148CAMK1D0.36186338
149PRKCA0.35523746
150MAP2K10.35125321
151CSNK1A10.34888353
152DYRK1A0.34804897
153MAP2K60.34396913
154CSNK1D0.33754180
155BCR0.33529782
156ERBB20.32801356
157PRKCZ0.31974433
158SGK2230.31919661
159SGK4940.31919661
160CSNK1G30.30645569
161PAK60.28800249
162MAPK130.28666384
163CDK140.27060967
164DAPK20.26754840
165SRPK10.26583375

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.87484869
2Parkinsons disease_Homo sapiens_hsa050124.67634054
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.67077241
4Cardiac muscle contraction_Homo sapiens_hsa042603.60368142
5Alzheimers disease_Homo sapiens_hsa050103.53810500
6Huntingtons disease_Homo sapiens_hsa050163.06414768
7Nitrogen metabolism_Homo sapiens_hsa009102.81752166
8Proteasome_Homo sapiens_hsa030502.78366221
9Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.74073069
10Linoleic acid metabolism_Homo sapiens_hsa005912.65951661
11alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.59214633
12Olfactory transduction_Homo sapiens_hsa047402.53507681
13Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.29497933
14Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.14785280
15Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.07367906
16Selenocompound metabolism_Homo sapiens_hsa004502.00739854
17Phototransduction_Homo sapiens_hsa047442.00085760
18Maturity onset diabetes of the young_Homo sapiens_hsa049501.94128295
19Tryptophan metabolism_Homo sapiens_hsa003801.91475770
20RNA polymerase_Homo sapiens_hsa030201.84623786
21Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.83740276
22Ether lipid metabolism_Homo sapiens_hsa005651.77835131
23Ribosome_Homo sapiens_hsa030101.77574520
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.76423022
25Homologous recombination_Homo sapiens_hsa034401.70844072
26ABC transporters_Homo sapiens_hsa020101.67754683
27Long-term potentiation_Homo sapiens_hsa047201.59154022
28Synaptic vesicle cycle_Homo sapiens_hsa047211.58042012
292-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.56416509
30SNARE interactions in vesicular transport_Homo sapiens_hsa041301.52089290
31Fanconi anemia pathway_Homo sapiens_hsa034601.43831581
32Circadian entrainment_Homo sapiens_hsa047131.43317576
33Morphine addiction_Homo sapiens_hsa050321.37454723
34Basal transcription factors_Homo sapiens_hsa030221.35771164
35Nicotine addiction_Homo sapiens_hsa050331.35441344
36Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.35067972
37Calcium signaling pathway_Homo sapiens_hsa040201.33611764
38GABAergic synapse_Homo sapiens_hsa047271.32607901
39Amphetamine addiction_Homo sapiens_hsa050311.31929434
40Carbon metabolism_Homo sapiens_hsa012001.31582804
41Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.23913567
42Caffeine metabolism_Homo sapiens_hsa002321.23110305
43Pyrimidine metabolism_Homo sapiens_hsa002401.21021709
44Propanoate metabolism_Homo sapiens_hsa006401.19690395
45Purine metabolism_Homo sapiens_hsa002301.19093573
46Folate biosynthesis_Homo sapiens_hsa007901.17880641
47Steroid hormone biosynthesis_Homo sapiens_hsa001401.16840706
48Dilated cardiomyopathy_Homo sapiens_hsa054141.15104926
49Glutamatergic synapse_Homo sapiens_hsa047241.14883346
50Dopaminergic synapse_Homo sapiens_hsa047281.10158931
51Oxytocin signaling pathway_Homo sapiens_hsa049211.10134313
52Protein export_Homo sapiens_hsa030601.08455012
53Primary bile acid biosynthesis_Homo sapiens_hsa001201.07955469
54Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.07216615
55Regulation of autophagy_Homo sapiens_hsa041401.06928086
56Arachidonic acid metabolism_Homo sapiens_hsa005901.06591383
57Pyruvate metabolism_Homo sapiens_hsa006201.04497444
58Peroxisome_Homo sapiens_hsa041461.02538932
59Sulfur relay system_Homo sapiens_hsa041221.02133615
60Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.01679253
61Insulin secretion_Homo sapiens_hsa049111.01361999
62Glycerolipid metabolism_Homo sapiens_hsa005611.00805825
63One carbon pool by folate_Homo sapiens_hsa006700.98998992
64Chemical carcinogenesis_Homo sapiens_hsa052040.98834549
65Asthma_Homo sapiens_hsa053100.97747695
66Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.97428999
67Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.95590096
68Collecting duct acid secretion_Homo sapiens_hsa049660.94115375
69Ovarian steroidogenesis_Homo sapiens_hsa049130.93705677
70Renin secretion_Homo sapiens_hsa049240.93222808
71Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.92042172
72Gastric acid secretion_Homo sapiens_hsa049710.92036374
73Salivary secretion_Homo sapiens_hsa049700.90475931
74Histidine metabolism_Homo sapiens_hsa003400.90426235
75RNA degradation_Homo sapiens_hsa030180.88333232
76Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.86854873
77Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.86661130
78Aldosterone synthesis and secretion_Homo sapiens_hsa049250.86633831
79cGMP-PKG signaling pathway_Homo sapiens_hsa040220.83578177
80Retinol metabolism_Homo sapiens_hsa008300.82026783
81Cholinergic synapse_Homo sapiens_hsa047250.81658830
82Glucagon signaling pathway_Homo sapiens_hsa049220.78214828
83Graft-versus-host disease_Homo sapiens_hsa053320.77608230
84Oocyte meiosis_Homo sapiens_hsa041140.77427494
85Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.75793866
86Circadian rhythm_Homo sapiens_hsa047100.75725449
87DNA replication_Homo sapiens_hsa030300.75338889
88Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.74049751
89Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.73432709
90Cysteine and methionine metabolism_Homo sapiens_hsa002700.72615183
91Dorso-ventral axis formation_Homo sapiens_hsa043200.72599092
92Taste transduction_Homo sapiens_hsa047420.72226305
93Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.69211983
94Serotonergic synapse_Homo sapiens_hsa047260.67613823
95Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.65759274
96cAMP signaling pathway_Homo sapiens_hsa040240.62757257
97Allograft rejection_Homo sapiens_hsa053300.60349999
98Pentose phosphate pathway_Homo sapiens_hsa000300.59154225
99Fat digestion and absorption_Homo sapiens_hsa049750.56917907
100Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.56360003
101Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.55267756
102Vascular smooth muscle contraction_Homo sapiens_hsa042700.54835677
103Primary immunodeficiency_Homo sapiens_hsa053400.54512755
104Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.54420776
105Mineral absorption_Homo sapiens_hsa049780.54393318
106Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.54098656
107Biosynthesis of amino acids_Homo sapiens_hsa012300.54048475
108Base excision repair_Homo sapiens_hsa034100.53163181
109Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.51747553
110Autoimmune thyroid disease_Homo sapiens_hsa053200.51557409
111Metabolic pathways_Homo sapiens_hsa011000.49847336
112GnRH signaling pathway_Homo sapiens_hsa049120.48259478
113Insulin signaling pathway_Homo sapiens_hsa049100.47256821
114Glycerophospholipid metabolism_Homo sapiens_hsa005640.46441125
115Vibrio cholerae infection_Homo sapiens_hsa051100.45269195
116Fatty acid degradation_Homo sapiens_hsa000710.44872415
117Pancreatic secretion_Homo sapiens_hsa049720.44380620
118Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.44208413
119Fructose and mannose metabolism_Homo sapiens_hsa000510.43613846
120Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.43229794
121Gap junction_Homo sapiens_hsa045400.43070996
122Fatty acid biosynthesis_Homo sapiens_hsa000610.42363450
123Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.40880785
124Vitamin B6 metabolism_Homo sapiens_hsa007500.40692330
125Vitamin digestion and absorption_Homo sapiens_hsa049770.40035093
126Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.39966094
127Sulfur metabolism_Homo sapiens_hsa009200.39739898
128Type I diabetes mellitus_Homo sapiens_hsa049400.39415012
129VEGF signaling pathway_Homo sapiens_hsa043700.38928021
130Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.35796240
131Rheumatoid arthritis_Homo sapiens_hsa053230.35225330
132Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.35013410
133Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.34329482
134Nucleotide excision repair_Homo sapiens_hsa034200.34171403
135Adipocytokine signaling pathway_Homo sapiens_hsa049200.33712997
136Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.30432880
137Intestinal immune network for IgA production_Homo sapiens_hsa046720.29976883
138beta-Alanine metabolism_Homo sapiens_hsa004100.28921269
139Cocaine addiction_Homo sapiens_hsa050300.27647479
140Long-term depression_Homo sapiens_hsa047300.26521027
141Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.25211454
142Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.24179024
143Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.22839775
144Galactose metabolism_Homo sapiens_hsa000520.22731644
145HIF-1 signaling pathway_Homo sapiens_hsa040660.22609848
146B cell receptor signaling pathway_Homo sapiens_hsa046620.22311991
147Butanoate metabolism_Homo sapiens_hsa006500.21509185
148Spliceosome_Homo sapiens_hsa030400.20412583
149Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.19908606

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