ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	cytidine metabolic process (GO:0046087)	8.81112457
2	cytidine catabolic process (GO:0006216)	8.81112457
3	cytidine deamination (GO:0009972)	8.81112457
4	pyrimidine ribonucleoside catabolic process (GO:0046133)	7.82791996
5	DNA deamination (GO:0045006)	7.53192368
6	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	7.33909739
7	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	6.50464448
8	ATP synthesis coupled proton transport (GO:0015986)	5.73039261
9	energy coupled proton transport, down electrochemical gradient (GO:0015985)	5.73039261
10	establishment of protein localization to mitochondrial membrane (GO:0090151)	5.49846755
11	regulation of oxidative phosphorylation (GO:0002082)	5.41910520
12	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	5.22283892
13	respiratory electron transport chain (GO:0022904)	4.75418614
14	electron transport chain (GO:0022900)	4.68123682
15	regulation of chronic inflammatory response (GO:0002676)	3.77821594
16	pyrimidine nucleoside catabolic process (GO:0046135)	3.74576002
17	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.74051186
18	protein complex biogenesis (GO:0070271)	3.70822581
19	proteasome assembly (GO:0043248)	3.62659432
20	eosinophil chemotaxis (GO:0048245)	3.60561068
21	hydrogen ion transmembrane transport (GO:1902600)	3.60008058
22	platelet dense granule organization (GO:0060155)	3.46441774
23	ribosomal small subunit assembly (GO:0000028)	3.44211058
24	monocyte chemotaxis (GO:0002548)	3.38301450
25	response to gravity (GO:0009629)	3.32810284
26	proton transport (GO:0015992)	3.32242647
27	ATP biosynthetic process (GO:0006754)	3.31038667
28	mitochondrial respiratory chain complex assembly (GO:0033108)	3.28209968
29	eosinophil migration (GO:0072677)	3.24717242
30	termination of RNA polymerase III transcription (GO:0006386)	3.24482072
31	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.24482072
32	hydrogen transport (GO:0006818)	3.22551470
33	positive regulation of interleukin-8 secretion (GO:2000484)	3.20926399
34	positive regulation of protein homodimerization activity (GO:0090073)	3.18642090
35	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.18319495
36	negative regulation of B cell proliferation (GO:0030889)	3.16635079
37	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.15866634
38	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.15866634
39	response to pheromone (GO:0019236)	3.13633702
40	regulation of antigen processing and presentation of peptide antigen (GO:0002583)	3.10014753
41	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.09742903
42	signal peptide processing (GO:0006465)	3.08077449
43	regulation of regulatory T cell differentiation (GO:0045589)	3.05726201
44	regulation of cellular respiration (GO:0043457)	3.05500644
45	viral protein processing (GO:0019082)	3.05159891
46	mannosylation (GO:0097502)	3.00077860
47	protein neddylation (GO:0045116)	2.96356546
48	regulation of immunoglobulin secretion (GO:0051023)	2.88442316
49	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.88352579
50	respiratory chain complex IV assembly (GO:0008535)	2.87699366
51	cytochrome complex assembly (GO:0017004)	2.85358065
52	regulation of cellular amino acid metabolic process (GO:0006521)	2.84038296
53	cotranslational protein targeting to membrane (GO:0006613)	2.83223012
54	protein targeting to ER (GO:0045047)	2.82628813
55	behavioral response to nicotine (GO:0035095)	2.82445260
56	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.80806245
57	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.80806245
58	NADH dehydrogenase complex assembly (GO:0010257)	2.80806245
59	intracellular protein transmembrane import (GO:0044743)	2.80518417
60	otic vesicle formation (GO:0030916)	2.78183945
61	oxidative phosphorylation (GO:0006119)	2.77784374
62	protein localization to endoplasmic reticulum (GO:0070972)	2.73644234
63	pyrimidine ribonucleoside metabolic process (GO:0046131)	2.71392323
64	positive regulation of tolerance induction (GO:0002645)	2.69913859
65	dopamine transport (GO:0015872)	2.69875707
66	acrosome reaction (GO:0007340)	2.67636256
67	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	2.66095997
68	negative regulation of B cell activation (GO:0050869)	2.65993693
69	establishment of protein localization to endoplasmic reticulum (GO:0072599)	2.65053106
70	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.64901397
71	multicellular organismal aging (GO:0010259)	2.61984424
72	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.59710028
73	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.59710028
74	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.59710028
75	regulation of mitochondrial translation (GO:0070129)	2.59562744
76	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.58141883
77	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.57307964
78	negative regulation of ligase activity (GO:0051352)	2.57307964
79	pyrimidine-containing compound catabolic process (GO:0072529)	2.56341274
80	regulation of proton transport (GO:0010155)	2.55935345
81	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.55836183
82	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.55836183
83	positive regulation of TOR signaling (GO:0032008)	2.55325405
84	ATP hydrolysis coupled proton transport (GO:0015991)	2.55234476
85	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	2.55234476
86	macrophage chemotaxis (GO:0048246)	2.53549153
87	viral transcription (GO:0019083)	2.53301506
88	regulation of T cell tolerance induction (GO:0002664)	2.53233444
89	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.52757858
90	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.52460198
91	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.51784813
92	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:	2.48129177
93	tyrosine metabolic process (GO:0006570)	2.47614908
94	anterograde synaptic vesicle transport (GO:0048490)	2.47135899
95	aldehyde catabolic process (GO:0046185)	2.45734268
96	translational termination (GO:0006415)	2.44996537
97	negative regulation of viral genome replication (GO:0045071)	2.43514771
98	GTP biosynthetic process (GO:0006183)	2.42306315
99	signal transduction involved in DNA integrity checkpoint (GO:0072401)	2.42214830
100	signal transduction involved in DNA damage checkpoint (GO:0072422)	2.42214830

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	BP1_19119308_ChIP-ChIP_Hs578T_Human	4.60962781
2	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	4.18428378
3	VDR_22108803_ChIP-Seq_LS180_Human	4.01844070
4	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.25000510
5	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.15017175
6	TAF15_26573619_Chip-Seq_HEK293_Human	3.10746585
7	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.96804508
8	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.87364292
9	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.84439284
10	ZNF274_21170338_ChIP-Seq_K562_Hela	2.58850389
11	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	2.58007133
12	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.48828207
13	VDR_23849224_ChIP-Seq_CD4+_Human	2.30566333
14	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.22707137
15	IGF1R_20145208_ChIP-Seq_DFB_Human	2.10995071
16	ELK1_19687146_ChIP-ChIP_HELA_Human	2.10431838
17	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.07615625
18	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.04144298
19	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.98454721
20	FUS_26573619_Chip-Seq_HEK293_Human	1.92469840
21	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.91533200
22	TP53_22573176_ChIP-Seq_HFKS_Human	1.86865190
23	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.82830250
24	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.78762842
25	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.77718785
26	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.75346265
27	FOXP3_21729870_ChIP-Seq_TREG_Human	1.74991163
28	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.72575452
29	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.70504926
30	HTT_18923047_ChIP-ChIP_STHdh_Human	1.69292747
31	IRF1_19129219_ChIP-ChIP_H3396_Human	1.68624345
32	P300_19829295_ChIP-Seq_ESCs_Human	1.62321784
33	MYC_18940864_ChIP-ChIP_HL60_Human	1.60045413
34	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.59502590
35	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.58299301
36	BCAT_22108803_ChIP-Seq_LS180_Human	1.57612427
37	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.57235064
38	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.50085437
39	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.48893211
40	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.48184818
41	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.46966990
42	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.45691973
43	ER_23166858_ChIP-Seq_MCF-7_Human	1.36295234
44	EWS_26573619_Chip-Seq_HEK293_Human	1.34491782
45	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.33711628
46	NANOG_19829295_ChIP-Seq_ESCs_Human	1.33477973
47	SOX2_19829295_ChIP-Seq_ESCs_Human	1.33477973
48	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.29466245
49	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.27633329
50	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.26479160
51	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.26312182
52	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.26071267
53	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.23161749
54	RUNX1_17652178_ChIP-ChIP_JURKAT_Human	1.20868609
55	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.20507275
56	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.20087534
57	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.19781750
58	AR_20517297_ChIP-Seq_VCAP_Human	1.19446821
59	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.18657343
60	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.17157107
61	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.16537371
62	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.16512210
63	TCF4_22108803_ChIP-Seq_LS180_Human	1.15640003
64	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.15338946
65	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.14516461
66	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.12126907
67	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.12050597
68	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.11372441
69	GBX2_23144817_ChIP-Seq_PC3_Human	1.10945890
70	MYC_19829295_ChIP-Seq_ESCs_Human	1.10846426
71	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.09272788
72	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.09154294
73	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.08298189
74	AR_25329375_ChIP-Seq_VCAP_Human	1.06359603
75	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.06033442
76	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.04475810
77	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.03013871
78	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.99671005
79	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.99042981
80	EGR1_19032775_ChIP-ChIP_M12_Human	0.98921759
81	AR_21572438_ChIP-Seq_LNCaP_Human	0.98715419
82	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.98203674
83	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.97491376
84	SMAD4_21799915_ChIP-Seq_A2780_Human	0.96956747
85	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.96387376
86	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.95065979
87	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.93210771
88	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	0.92513456
89	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.91913241
90	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.91685813
91	MYC_18555785_ChIP-Seq_MESCs_Mouse	0.88388788
92	GATA3_26560356_Chip-Seq_TH2_Human	0.88350338
93	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.88301906
94	RUNX2_22187159_ChIP-Seq_PCA_Human	0.86091035
95	NCOR_22424771_ChIP-Seq_293T_Human	0.85488227
96	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.85420341
97	HOXB7_26014856_ChIP-Seq_BT474_Human	0.85273228
98	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	0.85147243
99	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.84731465
100	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.83911620

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003806_abnormal_nucleotide_metabolis	4.62569918
2	MP0006292_abnormal_olfactory_placode	4.39685075
3	MP0001873_stomach_inflammation	4.06448578
4	MP0000372_irregular_coat_pigmentation	3.71247584
5	MP0002277_abnormal_respiratory_mucosa	3.20029604
6	MP0005671_abnormal_response_to	2.91707845
7	MP0003136_yellow_coat_color	2.56413700
8	MP0009379_abnormal_foot_pigmentation	2.54787335
9	MP0006082_CNS_inflammation	2.54444526
10	MP0002163_abnormal_gland_morphology	2.51928696
11	MP0003195_calcinosis	2.47744712
12	MP0008789_abnormal_olfactory_epithelium	2.38780340
13	MP0003786_premature_aging	2.36745343
14	MP0002822_catalepsy	2.33888341
15	MP0008995_early_reproductive_senescence	2.09847006
16	MP0003880_abnormal_central_pattern	1.95697415
17	MP0005499_abnormal_olfactory_system	1.94987153
18	MP0005394_taste/olfaction_phenotype	1.94987153
19	MP0008875_abnormal_xenobiotic_pharmacok	1.94264702
20	MP0002638_abnormal_pupillary_reflex	1.92113212
21	MP0002837_dystrophic_cardiac_calcinosis	1.81911415
22	MP0001984_abnormal_olfaction	1.81329380
23	MP0004145_abnormal_muscle_electrophysio	1.74536785
24	MP0005408_hypopigmentation	1.73710232
25	MP0008877_abnormal_DNA_methylation	1.68855985
26	MP0006072_abnormal_retinal_apoptosis	1.67159604
27	MP0009333_abnormal_splenocyte_physiolog	1.48985890
28	MP0008872_abnormal_physiological_respon	1.48735766
29	MP0004381_abnormal_hair_follicle	1.44252146
30	MP0003123_paternal_imprinting	1.41772912
31	MP0001905_abnormal_dopamine_level	1.41173627
32	MP0005075_abnormal_melanosome_morpholog	1.38024254
33	MP0000569_abnormal_digit_pigmentation	1.35433514
34	MP0002090_abnormal_vision	1.34499102
35	MP0002102_abnormal_ear_morphology	1.34337620
36	MP0006054_spinal_hemorrhage	1.32622355
37	MP0005171_absent_coat_pigmentation	1.32225681
38	MP0000749_muscle_degeneration	1.31010854
39	MP0005084_abnormal_gallbladder_morpholo	1.27792864
40	MP0001853_heart_inflammation	1.25215893
41	MP0001501_abnormal_sleep_pattern	1.24585380
42	MP0004142_abnormal_muscle_tone	1.21860456
43	MP0003186_abnormal_redox_activity	1.21573531
44	MP0001293_anophthalmia	1.21243640
45	MP0002933_joint_inflammation	1.19237832
46	MP0006276_abnormal_autonomic_nervous	1.15602572
47	MP0005379_endocrine/exocrine_gland_phen	1.13458052
48	MP0003646_muscle_fatigue	1.11601804
49	MP0004147_increased_porphyrin_level	1.09999683
50	MP0001835_abnormal_antigen_presentation	1.09593099
51	MP0003763_abnormal_thymus_physiology	1.08022378
52	MP0003137_abnormal_impulse_conducting	1.07798526
53	MP0003045_fibrosis	1.05864869
54	MP0009745_abnormal_behavioral_response	1.04130508
55	MP0002938_white_spotting	1.00782346
56	MP0005551_abnormal_eye_electrophysiolog	0.97405094
57	MP0001919_abnormal_reproductive_system	0.95994483
58	MP0002653_abnormal_ependyma_morphology	0.94966876
59	MP0002876_abnormal_thyroid_physiology	0.93587765
60	MP0003938_abnormal_ear_development	0.93455327
61	MP0005167_abnormal_blood-brain_barrier	0.92225243
62	MP0010386_abnormal_urinary_bladder	0.91497693
63	MP0005645_abnormal_hypothalamus_physiol	0.91104818
64	MP0005620_abnormal_muscle_contractility	0.88296072
65	MP0000631_abnormal_neuroendocrine_gland	0.87184673
66	MP0005646_abnormal_pituitary_gland	0.86653881
67	MP0005310_abnormal_salivary_gland	0.85378081
68	MP0002148_abnormal_hypersensitivity_rea	0.84846535
69	MP0009785_altered_susceptibility_to	0.84024496
70	MP0002233_abnormal_nose_morphology	0.82457491
71	MP0001968_abnormal_touch/_nociception	0.82288003
72	MP0002557_abnormal_social/conspecific_i	0.81531794
73	MP0001502_abnormal_circadian_rhythm	0.80655506
74	MP0001485_abnormal_pinna_reflex	0.80222867
75	MP0002095_abnormal_skin_pigmentation	0.79466175
76	MP0000516_abnormal_urinary_system	0.79463615
77	MP0005367_renal/urinary_system_phenotyp	0.79463615
78	MP0005332_abnormal_amino_acid	0.78282340
79	MP0005000_abnormal_immune_tolerance	0.77796195
80	MP0003959_abnormal_lean_body	0.77625179
81	MP0001529_abnormal_vocalization	0.76238444
82	MP0003567_abnormal_fetal_cardiomyocyte	0.74243009
83	MP0002177_abnormal_outer_ear	0.73802231
84	MP0005410_abnormal_fertilization	0.72776385
85	MP0005248_abnormal_Harderian_gland	0.69141938
86	MP0004885_abnormal_endolymph	0.68814791
87	MP0004043_abnormal_pH_regulation	0.68808600
88	MP0002138_abnormal_hepatobiliary_system	0.68232105
89	MP0002693_abnormal_pancreas_physiology	0.65961817
90	MP0005636_abnormal_mineral_homeostasis	0.65293798
91	MP0009697_abnormal_copulation	0.63201381
92	MP0005266_abnormal_metabolism	0.62854260
93	MP0000613_abnormal_salivary_gland	0.62814613
94	MP0001800_abnormal_humoral_immune	0.62074205
95	MP0000639_abnormal_adrenal_gland	0.60646999
96	MP0002405_respiratory_system_inflammati	0.59968790
97	MP0000371_diluted_coat_color	0.59594816
98	MP0009046_muscle_twitch	0.59394825
99	MP0002132_abnormal_respiratory_system	0.58165422
100	MP0004924_abnormal_behavior	0.55336890

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Increased hepatocellular lipid droplets (HP:0006565)	5.16134096
2	Renal Fanconi syndrome (HP:0001994)	4.75148683
3	Congenital, generalized hypertrichosis (HP:0004540)	4.72210176
4	Lipid accumulation in hepatocytes (HP:0006561)	4.46097554
5	Mitochondrial inheritance (HP:0001427)	4.42364095
6	Hypothermia (HP:0002045)	4.26252795
7	Hepatocellular necrosis (HP:0001404)	4.25637560
8	Acute necrotizing encephalopathy (HP:0006965)	4.22217968
9	Exertional dyspnea (HP:0002875)	3.90455387
10	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.70142718
11	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.70142718
12	Acute encephalopathy (HP:0006846)	3.66279535
13	Progressive macrocephaly (HP:0004481)	3.65218176
14	Abnormal mitochondria in muscle tissue (HP:0008316)	3.61381353
15	Increased CSF lactate (HP:0002490)	3.49491459
16	Increased intramyocellular lipid droplets (HP:0012240)	3.47102275
17	3-Methylglutaconic aciduria (HP:0003535)	3.42591420
18	Hepatic necrosis (HP:0002605)	3.36859921
19	Type I transferrin isoform profile (HP:0003642)	3.32536915
20	Palpebral edema (HP:0100540)	3.30572398
21	Delayed CNS myelination (HP:0002188)	3.21935287
22	Abnormality of the prostate (HP:0008775)	3.12735212
23	Fibular aplasia (HP:0002990)	3.12402232
24	Abnormality of renal resorption (HP:0011038)	3.08282151
25	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	3.07628261
26	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.94155098
27	Cutaneous melanoma (HP:0012056)	2.79569438
28	Increased muscle lipid content (HP:0009058)	2.70403836
29	Hyperphosphaturia (HP:0003109)	2.66442137
30	Woolly hair (HP:0002224)	2.63395000
31	Cerebral edema (HP:0002181)	2.57853265
32	Hypoalbuminemia (HP:0003073)	2.56132413
33	Abnormal albumin level (HP:0012116)	2.56132413
34	Respiratory difficulties (HP:0002880)	2.44675886
35	Parakeratosis (HP:0001036)	2.43273777
36	IgG deficiency (HP:0004315)	2.40937495
37	Optic disc pallor (HP:0000543)	2.40279941
38	Pancreatic cysts (HP:0001737)	2.37696524
39	Hypoplastic left heart (HP:0004383)	2.33643122
40	Ureteral obstruction (HP:0006000)	2.32948546
41	Chronic diarrhea (HP:0002028)	2.24578175
42	Molar tooth sign on MRI (HP:0002419)	2.20139305
43	Abnormality of midbrain morphology (HP:0002418)	2.20139305
44	Testicular atrophy (HP:0000029)	2.20130691
45	Aplasia/hypoplasia of the humerus (HP:0006507)	2.19403593
46	Hypoglycemic seizures (HP:0002173)	2.18295706
47	Amyotrophic lateral sclerosis (HP:0007354)	2.15610274
48	Retinal dysplasia (HP:0007973)	2.14181741
49	Adrenal hypoplasia (HP:0000835)	2.11161647
50	Abnormality of male internal genitalia (HP:0000022)	2.10825048
51	Medial flaring of the eyebrow (HP:0010747)	2.10257261
52	Aplasia/hypoplasia of the uterus (HP:0008684)	2.05329995
53	Facial edema (HP:0000282)	2.05139689
54	Periorbital edema (HP:0100539)	2.02365321
55	Degeneration of anterior horn cells (HP:0002398)	1.99927281
56	Abnormality of the anterior horn cell (HP:0006802)	1.99927281
57	Exercise intolerance (HP:0003546)	1.94630853
58	Rectal fistula (HP:0100590)	1.90546334
59	Rectovaginal fistula (HP:0000143)	1.90546334
60	Abnormality of T cell number (HP:0011839)	1.89391771
61	Increased serum lactate (HP:0002151)	1.89362626
62	Supernumerary spleens (HP:0009799)	1.88820967
63	X-linked dominant inheritance (HP:0001423)	1.86843016
64	Increased corneal curvature (HP:0100692)	1.85687601
65	Keratoconus (HP:0000563)	1.85687601
66	Degeneration of the lateral corticospinal tracts (HP:0002314)	1.85294759
67	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	1.85294759
68	Abnormal glycosylation (HP:0012345)	1.83692723
69	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.83692723
70	Abnormal protein N-linked glycosylation (HP:0012347)	1.83692723
71	Abnormal protein glycosylation (HP:0012346)	1.83692723
72	Increased circulating renin level (HP:0000848)	1.83555203
73	Absent speech (HP:0001344)	1.83490282
74	Alveolar cell carcinoma (HP:0006519)	1.83310437
75	Facial diplegia (HP:0001349)	1.82562866
76	Abnormal urine phosphate concentration (HP:0012599)	1.80508403
77	Growth hormone deficiency (HP:0000824)	1.79548183
78	Lactic acidosis (HP:0003128)	1.79497051
79	Respiratory failure (HP:0002878)	1.79309587
80	IgM deficiency (HP:0002850)	1.79225871
81	Mask-like facies (HP:0000298)	1.79150396
82	Hypoplastic heart (HP:0001961)	1.78595813
83	Septo-optic dysplasia (HP:0100842)	1.78499996
84	Glycosuria (HP:0003076)	1.77990194
85	Abnormality of urine glucose concentration (HP:0011016)	1.77990194
86	Pulmonary fibrosis (HP:0002206)	1.76694102
87	Ureteral stenosis (HP:0000071)	1.76458612
88	Intestinal atresia (HP:0011100)	1.76433892
89	Pigmentary retinal degeneration (HP:0001146)	1.75913974
90	Leukodystrophy (HP:0002415)	1.74209477
91	Partial duplication of thumb phalanx (HP:0009944)	1.72497058
92	T lymphocytopenia (HP:0005403)	1.72318001
93	Concave nail (HP:0001598)	1.72294241
94	Short tibia (HP:0005736)	1.71440332
95	Male pseudohermaphroditism (HP:0000037)	1.71241321
96	Type II lissencephaly (HP:0007260)	1.71071392
97	Atrophy/Degeneration involving motor neurons (HP:0007373)	1.70936141
98	Azoospermia (HP:0000027)	1.69954631
99	Aplasia/Hypoplasia involving the musculature (HP:0001460)	1.69268241
100	Optic nerve hypoplasia (HP:0000609)	1.69213501

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TXK	6.73360393
2	GRK7	3.04882454
3	SRPK1	2.92846324
4	TESK1	2.85489414
5	TESK2	2.79874449
6	LIMK1	2.75901502
7	MAP3K12	2.61983678
8	VRK2	2.35992900
9	STK39	2.27458779
10	KDR	2.26365473
11	MST4	2.22020899
12	WNK4	2.18231992
13	PHKG1	2.01121712
14	PHKG2	2.01121712
15	ADRBK2	1.72075923
16	MAP3K4	1.69255919
17	BMPR2	1.66602782
18	ZAK	1.66482183
19	MAP2K6	1.66377345
20	ACVR1B	1.62064879
21	MYLK	1.59431120
22	MKNK2	1.50233135
23	EPHA4	1.46725737
24	FRK	1.37495569
25	CASK	1.33780534
26	CSNK1G3	1.29577030
27	OXSR1	1.26209696
28	CAMKK2	1.25130149
29	GRK1	1.20951528
30	TNK2	1.17111244
31	TEC	1.16444028
32	DAPK1	1.15212003
33	BCKDK	1.10198012
34	MAP2K7	1.09197559
35	CSNK1G1	1.05432318
36	CDK8	1.03507782
37	OBSCN	1.02850880
38	MKNK1	1.01325627
39	BMPR1B	0.98942196
40	CSNK1G2	0.98345523
41	ITK	0.96592586
42	CSNK1A1L	0.94540380
43	CDK3	0.93325039
44	TLK1	0.89135473
45	MAPK13	0.87948147
46	SCYL2	0.87416433
47	TIE1	0.87079007
48	VRK1	0.79387012
49	DAPK3	0.75127790
50	CCNB1	0.74055925
51	INSRR	0.73382017
52	PIK3CG	0.70914949
53	CSF1R	0.70323011
54	ADRBK1	0.69389803
55	WNK3	0.66998244
56	PKN1	0.66523464
57	CHEK2	0.64374382
58	SYK	0.61618158
59	LCK	0.61374180
60	RPS6KA4	0.60243543
61	IKBKB	0.59868978
62	EPHB2	0.57927810
63	NME1	0.57594198
64	BCR	0.57492199
65	TRIM28	0.56886072
66	DYRK2	0.56674663
67	MAPKAPK3	0.53857066
68	NUAK1	0.52189906
69	CSNK1A1	0.48361663
70	ATR	0.48281903
71	MAP4K1	0.47816535
72	PAK6	0.46457021
73	IRAK4	0.46251658
74	CAMK2A	0.45744687
75	PRKCQ	0.44199768
76	PLK2	0.41650105
77	RIPK4	0.41610876
78	PBK	0.40424674
79	STK3	0.40419424
80	PRKCE	0.40253999
81	PRKCG	0.39986589
82	STK4	0.38951671
83	LYN	0.38746109
84	CAMK1	0.38297044
85	TAOK3	0.38207561
86	TNIK	0.37837775
87	PAK3	0.37749558
88	BRD4	0.37316123
89	AURKA	0.35015370
90	ROCK1	0.33390478
91	PRKACA	0.31750013
92	FER	0.31486146
93	FES	0.31098176
94	TYRO3	0.30682215
95	PRKCA	0.30587109
96	PAK4	0.30581677
97	BTK	0.30385777
98	EGFR	0.29418247
99	PRKG1	0.28059738
100	MUSK	0.27551359

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	5.28593883
2	Parkinsons disease_Homo sapiens_hsa05012	4.15214760
3	Proteasome_Homo sapiens_hsa03050	4.10455018
4	Protein export_Homo sapiens_hsa03060	3.12039562
5	RNA polymerase_Homo sapiens_hsa03020	3.07366205
6	Ribosome_Homo sapiens_hsa03010	3.06679457
7	Alzheimers disease_Homo sapiens_hsa05010	2.96437993
8	Autoimmune thyroid disease_Homo sapiens_hsa05320	2.90535686
9	Huntingtons disease_Homo sapiens_hsa05016	2.65213462
10	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.55362184
11	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	2.36168986
12	Allograft rejection_Homo sapiens_hsa05330	2.32039390
13	Graft-versus-host disease_Homo sapiens_hsa05332	2.28755840
14	Homologous recombination_Homo sapiens_hsa03440	2.18208438
15	Asthma_Homo sapiens_hsa05310	2.12210629
16	Cardiac muscle contraction_Homo sapiens_hsa04260	2.10817654
17	Primary immunodeficiency_Homo sapiens_hsa05340	1.68456017
18	Nitrogen metabolism_Homo sapiens_hsa00910	1.59584501
19	Type I diabetes mellitus_Homo sapiens_hsa04940	1.57168093
20	Rheumatoid arthritis_Homo sapiens_hsa05323	1.54350830
21	Collecting duct acid secretion_Homo sapiens_hsa04966	1.49093557
22	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.37257150
23	Phototransduction_Homo sapiens_hsa04744	1.35088864
24	Antigen processing and presentation_Homo sapiens_hsa04612	1.34943526
25	Basal transcription factors_Homo sapiens_hsa03022	1.33766125
26	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.26133181
27	Regulation of autophagy_Homo sapiens_hsa04140	1.24662716
28	Hematopoietic cell lineage_Homo sapiens_hsa04640	1.19652343
29	RNA degradation_Homo sapiens_hsa03018	1.19236242
30	Nucleotide excision repair_Homo sapiens_hsa03420	1.17043198
31	Folate biosynthesis_Homo sapiens_hsa00790	1.16482476
32	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.14527772
33	Purine metabolism_Homo sapiens_hsa00230	1.13587782
34	Pyrimidine metabolism_Homo sapiens_hsa00240	1.09702278
35	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.02878912
36	Fanconi anemia pathway_Homo sapiens_hsa03460	1.00265964
37	Mismatch repair_Homo sapiens_hsa03430	0.95179273
38	Selenocompound metabolism_Homo sapiens_hsa00450	0.91642040
39	Spliceosome_Homo sapiens_hsa03040	0.89110946
40	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.88068178
41	Butanoate metabolism_Homo sapiens_hsa00650	0.87867697
42	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.87824715
43	Circadian rhythm_Homo sapiens_hsa04710	0.87795629
44	Linoleic acid metabolism_Homo sapiens_hsa00591	0.87337662
45	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.84635448
46	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.79911390
47	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.76629058
48	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.72066937
49	Peroxisome_Homo sapiens_hsa04146	0.69563580
50	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.68779964
51	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.66438317
52	Propanoate metabolism_Homo sapiens_hsa00640	0.64880397
53	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.61644947
54	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.60820366
55	Caffeine metabolism_Homo sapiens_hsa00232	0.57692535
56	Vibrio cholerae infection_Homo sapiens_hsa05110	0.57210725
57	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.56473046
58	Metabolic pathways_Homo sapiens_hsa01100	0.55937597
59	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.52847383
60	Chemical carcinogenesis_Homo sapiens_hsa05204	0.51862777
61	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.50458909
62	Ether lipid metabolism_Homo sapiens_hsa00565	0.46736124
63	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.46574515
64	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.45955855
65	Viral myocarditis_Homo sapiens_hsa05416	0.45448931
66	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.45139401
67	Olfactory transduction_Homo sapiens_hsa04740	0.42795922
68	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.40559588
69	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.39463724
70	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.38028503
71	Tight junction_Homo sapiens_hsa04530	0.37959517
72	beta-Alanine metabolism_Homo sapiens_hsa00410	0.37830607
73	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.37342637
74	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.36612606
75	Mineral absorption_Homo sapiens_hsa04978	0.36071973
76	Glutathione metabolism_Homo sapiens_hsa00480	0.35552400
77	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.35408684
78	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.34005871
79	Non-homologous end-joining_Homo sapiens_hsa03450	0.33844565
80	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.31847449
81	Renin-angiotensin system_Homo sapiens_hsa04614	0.28182640
82	DNA replication_Homo sapiens_hsa03030	0.23111280
83	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.22814988
84	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.22422905
85	Salmonella infection_Homo sapiens_hsa05132	0.21762745
86	Sulfur metabolism_Homo sapiens_hsa00920	0.19451163
87	Base excision repair_Homo sapiens_hsa03410	0.19058617
88	Arginine and proline metabolism_Homo sapiens_hsa00330	0.18756210
89	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.18486069
90	Retinol metabolism_Homo sapiens_hsa00830	0.18061689
91	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.17587257
92	Tyrosine metabolism_Homo sapiens_hsa00350	0.17395274
93	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.16234789
94	Fatty acid elongation_Homo sapiens_hsa00062	0.15711775
95	Measles_Homo sapiens_hsa05162	0.15663947
96	Morphine addiction_Homo sapiens_hsa05032	0.14710615
97	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.14036808
98	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.13828568
99	Chemokine signaling pathway_Homo sapiens_hsa04062	0.12266901
100	Fatty acid degradation_Homo sapiens_hsa00071	0.12063467

ATP6V1E1P1

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

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