ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	protein complex biogenesis (GO:0070271)	4.86818209
2	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.68351728
3	mitochondrial respiratory chain complex assembly (GO:0033108)	4.67040839
4	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.66712643
5	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.66712643
6	NADH dehydrogenase complex assembly (GO:0010257)	4.66712643
7	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.47173273
8	respiratory chain complex IV assembly (GO:0008535)	4.34957853
9	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.33823671
10	cytochrome complex assembly (GO:0017004)	4.16003642
11	ATP synthesis coupled proton transport (GO:0015986)	4.15203312
12	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.15203312
13	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.92991624
14	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.90432685
15	chaperone-mediated protein transport (GO:0072321)	3.80662136
16	respiratory electron transport chain (GO:0022904)	3.77457291
17	proteasome assembly (GO:0043248)	3.74979832
18	electron transport chain (GO:0022900)	3.74445649
19	DNA deamination (GO:0045006)	3.73097563
20	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.61244836
21	termination of RNA polymerase III transcription (GO:0006386)	3.61244836
22	meiotic chromosome segregation (GO:0045132)	3.60620328
23	regulation of mitochondrial translation (GO:0070129)	3.56915791
24	pseudouridine synthesis (GO:0001522)	3.53924737
25	chromatin remodeling at centromere (GO:0031055)	3.51655748
26	behavioral response to nicotine (GO:0035095)	3.48641994
27	CENP-A containing nucleosome assembly (GO:0034080)	3.44944281
28	replication fork processing (GO:0031297)	3.42001831
29	protein neddylation (GO:0045116)	3.40909642
30	water-soluble vitamin biosynthetic process (GO:0042364)	3.40802471
31	protein K6-linked ubiquitination (GO:0085020)	3.32201497
32	maturation of 5.8S rRNA (GO:0000460)	3.27627612
33	response to pheromone (GO:0019236)	3.26377273
34	cullin deneddylation (GO:0010388)	3.21218106
35	rRNA modification (GO:0000154)	3.21054671
36	protein-cofactor linkage (GO:0018065)	3.20952894
37	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.16352036
38	regulation of mitotic spindle checkpoint (GO:1903504)	3.16352036
39	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.15354506
40	ribosomal small subunit assembly (GO:0000028)	3.13533544
41	maturation of SSU-rRNA (GO:0030490)	3.13313126
42	preassembly of GPI anchor in ER membrane (GO:0016254)	3.12886842
43	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.10769847
44	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.10769847
45	mannosylation (GO:0097502)	3.10313617
46	intracellular protein transmembrane import (GO:0044743)	3.08130263
47	spliceosomal snRNP assembly (GO:0000387)	3.05988098
48	kinetochore organization (GO:0051383)	3.05533395
49	DNA replication checkpoint (GO:0000076)	3.05138406
50	piRNA metabolic process (GO:0034587)	3.02798161
51	protein deneddylation (GO:0000338)	2.96387364
52	tRNA processing (GO:0008033)	2.95172564
53	cellular component biogenesis (GO:0044085)	2.93658713
54	kinetochore assembly (GO:0051382)	2.93437661
55	histone exchange (GO:0043486)	2.87657361
56	ribosomal large subunit biogenesis (GO:0042273)	2.87543744
57	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.86135653
58	ubiquinone biosynthetic process (GO:0006744)	2.84245783
59	reciprocal meiotic recombination (GO:0007131)	2.82615365
60	reciprocal DNA recombination (GO:0035825)	2.82615365
61	histone mRNA metabolic process (GO:0008334)	2.81975873
62	rRNA methylation (GO:0031167)	2.81529264
63	regulation of meiosis I (GO:0060631)	2.81287459
64	translational termination (GO:0006415)	2.80988832
65	mitochondrial RNA metabolic process (GO:0000959)	2.79375149
66	centriole replication (GO:0007099)	2.79000419
67	rRNA metabolic process (GO:0016072)	2.78784042
68	synapsis (GO:0007129)	2.77964705
69	viral transcription (GO:0019083)	2.76829141
70	ribosomal small subunit biogenesis (GO:0042274)	2.76419473
71	rRNA processing (GO:0006364)	2.75824556
72	recombinational repair (GO:0000725)	2.75421732
73	double-strand break repair via homologous recombination (GO:0000724)	2.75047315
74	DNA double-strand break processing (GO:0000729)	2.74945604
75	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.74797791
76	peptidyl-histidine modification (GO:0018202)	2.74249881
77	inner mitochondrial membrane organization (GO:0007007)	2.73813212
78	GTP biosynthetic process (GO:0006183)	2.69404321
79	protein targeting to mitochondrion (GO:0006626)	2.67666701
80	protein localization to kinetochore (GO:0034501)	2.66794610
81	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.66583908
82	cotranslational protein targeting to membrane (GO:0006613)	2.65736554
83	translation (GO:0006412)	2.63710805
84	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.62893156
85	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.62893156
86	indole-containing compound catabolic process (GO:0042436)	2.62678770
87	indolalkylamine catabolic process (GO:0046218)	2.62678770
88	tryptophan catabolic process (GO:0006569)	2.62678770
89	protein prenylation (GO:0018342)	2.61664547
90	prenylation (GO:0097354)	2.61664547
91	resolution of meiotic recombination intermediates (GO:0000712)	2.61530932
92	ubiquinone metabolic process (GO:0006743)	2.61504067
93	protein targeting to ER (GO:0045047)	2.61068966
94	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.59805533
95	establishment of protein localization to mitochondrion (GO:0072655)	2.59140869
96	kynurenine metabolic process (GO:0070189)	2.58683389
97	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.58568675
98	ncRNA metabolic process (GO:0034660)	2.58283246
99	transcription from mitochondrial promoter (GO:0006390)	2.56354715
100	neural tube formation (GO:0001841)	2.55979469

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.60514132
2	GABP_17652178_ChIP-ChIP_JURKAT_Human	4.24919083
3	EST1_17652178_ChIP-ChIP_JURKAT_Human	4.07461004
4	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.26056810
5	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	3.20990227
6	ZNF274_21170338_ChIP-Seq_K562_Hela	3.19812091
7	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.10112190
8	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.84196447
9	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.83194019
10	VDR_23849224_ChIP-Seq_CD4+_Human	2.58172827
11	E2F4_17652178_ChIP-ChIP_JURKAT_Human	2.56191669
12	ELK1_19687146_ChIP-ChIP_HELA_Human	2.55179510
13	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.48453084
14	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.37011391
15	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.24948627
16	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.23153702
17	FOXP3_21729870_ChIP-Seq_TREG_Human	2.18711987
18	VDR_22108803_ChIP-Seq_LS180_Human	2.15434713
19	MYC_18940864_ChIP-ChIP_HL60_Human	2.13005145
20	EWS_26573619_Chip-Seq_HEK293_Human	2.09578303
21	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.05333664
22	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.00312399
23	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.93569532
24	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.87809458
25	FUS_26573619_Chip-Seq_HEK293_Human	1.86523232
26	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.81712172
27	* ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.80770649
28	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.71216174
29	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.70304040
30	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.68637312
31	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.67501453
32	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.66661796
33	E2F7_22180533_ChIP-Seq_HELA_Human	1.55039944
34	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.54482505
35	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.54180521
36	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.53737724
37	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.51462297
38	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.51192028
39	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.47545531
40	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.46350734
41	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.45392707
42	TP53_22573176_ChIP-Seq_HFKS_Human	1.42692670
43	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.40574408
44	TTF2_22483619_ChIP-Seq_HELA_Human	1.38719800
45	* GABP_19822575_ChIP-Seq_HepG2_Human	1.38570520
46	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.38497041
47	IGF1R_20145208_ChIP-Seq_DFB_Human	1.37109898
48	IRF1_19129219_ChIP-ChIP_H3396_Human	1.36960670
49	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.36792309
50	TAF15_26573619_Chip-Seq_HEK293_Human	1.36101444
51	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.34841604
52	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.34487996
53	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.33463538
54	DCP1A_22483619_ChIP-Seq_HELA_Human	1.33173298
55	P300_19829295_ChIP-Seq_ESCs_Human	1.33061838
56	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.32081142
57	GBX2_23144817_ChIP-Seq_PC3_Human	1.28397959
58	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.27890731
59	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.27476445
60	ER_23166858_ChIP-Seq_MCF-7_Human	1.26062466
61	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.22589575
62	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.17273522
63	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.17273522
64	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.17209712
65	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.16212284
66	EZH2_22144423_ChIP-Seq_EOC_Human	1.15893156
67	SOX2_19829295_ChIP-Seq_ESCs_Human	1.15341693
68	NANOG_19829295_ChIP-Seq_ESCs_Human	1.15341693
69	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.14836615
70	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.14787437
71	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.13480087
72	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.12114219
73	AR_20517297_ChIP-Seq_VCAP_Human	1.11233381
74	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.09379281
75	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.09373560
76	XRN2_22483619_ChIP-Seq_HELA_Human	1.09328602
77	KDM5A_27292631_Chip-Seq_BREAST_Human	1.06823671
78	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.06819137
79	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.05650372
80	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.00624510
81	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.00620048
82	NCOR_22424771_ChIP-Seq_293T_Human	1.00230151
83	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.99894507
84	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.99883066
85	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.96888991
86	CBP_20019798_ChIP-Seq_JUKART_Human	0.96430313
87	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.96430313
88	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	0.95097349
89	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	0.94745995
90	FOXM1_23109430_ChIP-Seq_U2OS_Human	0.93088404
91	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.93030717
92	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.92795717
93	* E2F1_21310950_ChIP-Seq_MCF-7_Human	0.91768640
94	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.90383896
95	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.89462978
96	MYC_19079543_ChIP-ChIP_MESCs_Mouse	0.87981282
97	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	0.86768061
98	RNF2_27304074_Chip-Seq_NSC_Mouse	0.84883625
99	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.84837672
100	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.84436826

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008058_abnormal_DNA_repair	3.26655777
2	MP0006292_abnormal_olfactory_placode	3.11472398
3	MP0008877_abnormal_DNA_methylation	3.10525585
4	MP0003718_maternal_effect	3.01111319
5	MP0003806_abnormal_nucleotide_metabolis	2.67962519
6	MP0000372_irregular_coat_pigmentation	2.65198040
7	MP0002938_white_spotting	2.62380165
8	MP0003693_abnormal_embryo_hatching	2.53625269
9	MP0010094_abnormal_chromosome_stability	2.42344636
10	MP0002102_abnormal_ear_morphology	2.22662744
11	MP0004147_increased_porphyrin_level	2.14547656
12	MP0006072_abnormal_retinal_apoptosis	2.06315684
13	MP0003195_calcinosis	1.93848744
14	MP0005551_abnormal_eye_electrophysiolog	1.92282854
15	MP0003136_yellow_coat_color	1.90504999
16	MP0003646_muscle_fatigue	1.87208693
17	MP0003786_premature_aging	1.83945665
18	MP0001986_abnormal_taste_sensitivity	1.77670143
19	MP0005646_abnormal_pituitary_gland	1.73598131
20	MP0001529_abnormal_vocalization	1.73373004
21	MP0002837_dystrophic_cardiac_calcinosis	1.71225953
22	MP0003787_abnormal_imprinting	1.65691424
23	MP0005253_abnormal_eye_physiology	1.64802771
24	MP0006036_abnormal_mitochondrial_physio	1.64319959
25	MP0004142_abnormal_muscle_tone	1.62263273
26	MP0000569_abnormal_digit_pigmentation	1.60756793
27	MP0001764_abnormal_homeostasis	1.58318627
28	MP0002736_abnormal_nociception_after	1.57989101
29	MP0003186_abnormal_redox_activity	1.54690384
30	MP0003111_abnormal_nucleus_morphology	1.54373989
31	MP0006035_abnormal_mitochondrial_morpho	1.53849127
32	MP0004957_abnormal_blastocyst_morpholog	1.53059399
33	MP0001968_abnormal_touch/_nociception	1.51337509
34	MP0002638_abnormal_pupillary_reflex	1.48824851
35	MP0002160_abnormal_reproductive_system	1.46717930
36	MP0005084_abnormal_gallbladder_morpholo	1.45393282
37	MP0008875_abnormal_xenobiotic_pharmacok	1.44595411
38	MP0000631_abnormal_neuroendocrine_gland	1.43470650
39	MP0003077_abnormal_cell_cycle	1.42736756
40	MP0005389_reproductive_system_phenotype	1.41000515
41	MP0002277_abnormal_respiratory_mucosa	1.38435704
42	MP0005075_abnormal_melanosome_morpholog	1.37504780
43	MP0001293_anophthalmia	1.36498561
44	MP0008057_abnormal_DNA_replication	1.35227177
45	MP0002210_abnormal_sex_determination	1.32245798
46	MP0001929_abnormal_gametogenesis	1.30689873
47	MP0002163_abnormal_gland_morphology	1.28987629
48	MP0008995_early_reproductive_senescence	1.28033233
49	MP0005379_endocrine/exocrine_gland_phen	1.25296913
50	MP0008872_abnormal_physiological_respon	1.25130534
51	MP0005174_abnormal_tail_pigmentation	1.23355403
52	MP0001919_abnormal_reproductive_system	1.23159021
53	MP0002095_abnormal_skin_pigmentation	1.21779040
54	MP0008789_abnormal_olfactory_epithelium	1.21312791
55	MP0003880_abnormal_central_pattern	1.21086730
56	MP0000653_abnormal_sex_gland	1.17849106
57	MP0003011_delayed_dark_adaptation	1.17097589
58	MP0008932_abnormal_embryonic_tissue	1.15216355
59	MP0005410_abnormal_fertilization	1.13888642
60	MP0001485_abnormal_pinna_reflex	1.10357866
61	MP0001145_abnormal_male_reproductive	1.09471792
62	MP0003567_abnormal_fetal_cardiomyocyte	1.08958734
63	MP0009046_muscle_twitch	1.07797798
64	MP0003890_abnormal_embryonic-extraembry	1.07198842
65	MP0005645_abnormal_hypothalamus_physiol	1.05465558
66	MP0002234_abnormal_pharynx_morphology	1.05311604
67	MP0004885_abnormal_endolymph	1.04235266
68	MP0004043_abnormal_pH_regulation	1.04185659
69	MP0006276_abnormal_autonomic_nervous	1.03506179
70	MP0003698_abnormal_male_reproductive	1.02222559
71	MP0001119_abnormal_female_reproductive	1.00073250
72	MP0004133_heterotaxia	0.97548437
73	MP0000427_abnormal_hair_cycle	0.96900986
74	MP0002751_abnormal_autonomic_nervous	0.96338181
75	MP0001324_abnormal_eye_pigmentation	0.93639922
76	MP0008007_abnormal_cellular_replicative	0.93492745
77	MP0005408_hypopigmentation	0.93266965
78	MP0004145_abnormal_muscle_electrophysio	0.92712332
79	MP0004215_abnormal_myocardial_fiber	0.90126738
80	MP0001984_abnormal_olfaction	0.87412782
81	MP0000647_abnormal_sebaceous_gland	0.87230350
82	MP0009745_abnormal_behavioral_response	0.84029079
83	MP0005195_abnormal_posterior_eye	0.82378743
84	MP0002928_abnormal_bile_duct	0.81242390
85	MP0005395_other_phenotype	0.81109488
86	MP0005187_abnormal_penis_morphology	0.78679726
87	MP0005332_abnormal_amino_acid	0.78256442
88	MP0003937_abnormal_limbs/digits/tail_de	0.77690567
89	MP0009697_abnormal_copulation	0.77628574
90	MP0002272_abnormal_nervous_system	0.76475420
91	MP0005085_abnormal_gallbladder_physiolo	0.76442046
92	MP0003121_genomic_imprinting	0.76062619
93	MP0001905_abnormal_dopamine_level	0.75266211
94	MP0002138_abnormal_hepatobiliary_system	0.75076895
95	MP0002876_abnormal_thyroid_physiology	0.74330680
96	MP0004742_abnormal_vestibular_system	0.74257392
97	MP0005391_vision/eye_phenotype	0.73850498
98	MP0009379_abnormal_foot_pigmentation	0.72776448
99	MP0002653_abnormal_ependyma_morphology	0.71047288
100	MP0010386_abnormal_urinary_bladder	0.70713015

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	3.97694734
2	Increased hepatocellular lipid droplets (HP:0006565)	3.70367993
3	Mitochondrial inheritance (HP:0001427)	3.69539673
4	Acute encephalopathy (HP:0006846)	3.62166468
5	Increased CSF lactate (HP:0002490)	3.56178932
6	Lipid accumulation in hepatocytes (HP:0006561)	3.55516580
7	Pancreatic cysts (HP:0001737)	3.53281311
8	Progressive macrocephaly (HP:0004481)	3.51203041
9	Abnormal mitochondria in muscle tissue (HP:0008316)	3.50826396
10	Abnormality of midbrain morphology (HP:0002418)	3.48339115
11	Molar tooth sign on MRI (HP:0002419)	3.48339115
12	Abnormal number of erythroid precursors (HP:0012131)	3.21798471
13	Hepatocellular necrosis (HP:0001404)	3.13930214
14	Pancreatic fibrosis (HP:0100732)	3.05544309
15	Abnormality of the pons (HP:0007361)	2.99814973
16	Type II lissencephaly (HP:0007260)	2.98437143
17	Hepatic necrosis (HP:0002605)	2.96783652
18	Abnormality of cells of the erythroid lineage (HP:0012130)	2.96306624
19	Hypoplasia of the pons (HP:0012110)	2.92864802
20	3-Methylglutaconic aciduria (HP:0003535)	2.86164364
21	Abnormality of the renal cortex (HP:0011035)	2.85737290
22	Renal Fanconi syndrome (HP:0001994)	2.79484393
23	Renal cortical cysts (HP:0000803)	2.77804769
24	True hermaphroditism (HP:0010459)	2.77753616
25	Nephronophthisis (HP:0000090)	2.72247604
26	Birth length less than 3rd percentile (HP:0003561)	2.68223642
27	Cerebral edema (HP:0002181)	2.62209625
28	Increased serum lactate (HP:0002151)	2.56168759
29	Abnormality of alanine metabolism (HP:0010916)	2.54156664
30	Hyperalaninemia (HP:0003348)	2.54156664
31	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.54156664
32	Cerebellar dysplasia (HP:0007033)	2.52408594
33	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.51961173
34	Pendular nystagmus (HP:0012043)	2.48307785
35	Abnormality of the renal medulla (HP:0100957)	2.44069833
36	Optic disc pallor (HP:0000543)	2.39752378
37	Congenital, generalized hypertrichosis (HP:0004540)	2.37558296
38	Lactic acidosis (HP:0003128)	2.30011044
39	Medial flaring of the eyebrow (HP:0010747)	2.29286265
40	Exertional dyspnea (HP:0002875)	2.26672288
41	Congenital stationary night blindness (HP:0007642)	2.22395942
42	Increased intramyocellular lipid droplets (HP:0012240)	2.21192656
43	Type I transferrin isoform profile (HP:0003642)	2.16330864
44	Abnormal biliary tract physiology (HP:0012439)	2.13815592
45	Bile duct proliferation (HP:0001408)	2.13815592
46	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.11770730
47	Colon cancer (HP:0003003)	2.06912646
48	Oligodactyly (hands) (HP:0001180)	2.05948915
49	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.05261207
50	Abnormality of renal resorption (HP:0011038)	2.03563880
51	Meckel diverticulum (HP:0002245)	2.02532954
52	Reticulocytopenia (HP:0001896)	2.00522347
53	Leukodystrophy (HP:0002415)	2.00353255
54	Patellar aplasia (HP:0006443)	2.00164703
55	Abnormal protein glycosylation (HP:0012346)	1.99217576
56	Abnormal glycosylation (HP:0012345)	1.99217576
57	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.99217576
58	Abnormal protein N-linked glycosylation (HP:0012347)	1.99217576
59	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.98849017
60	Hyperglycinemia (HP:0002154)	1.98457868
61	Attenuation of retinal blood vessels (HP:0007843)	1.97764320
62	Abolished electroretinogram (ERG) (HP:0000550)	1.97753122
63	Respiratory failure (HP:0002878)	1.97050197
64	Retinal dysplasia (HP:0007973)	1.96461612
65	Supernumerary spleens (HP:0009799)	1.96447219
66	Abnormality of the ileum (HP:0001549)	1.95970033
67	Glycosuria (HP:0003076)	1.95882503
68	Abnormality of urine glucose concentration (HP:0011016)	1.95882503
69	Methylmalonic acidemia (HP:0002912)	1.94675728
70	Macrocytic anemia (HP:0001972)	1.93160572
71	Hyperglycinuria (HP:0003108)	1.92793724
72	Large for gestational age (HP:0001520)	1.91910099
73	Aplasia/hypoplasia of the uterus (HP:0008684)	1.91425558
74	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.90659258
75	Aplasia/Hypoplasia of the patella (HP:0006498)	1.90373910
76	Lethargy (HP:0001254)	1.89183228
77	Sclerocornea (HP:0000647)	1.87474774
78	Hyperventilation (HP:0002883)	1.87278928
79	Respiratory difficulties (HP:0002880)	1.84863998
80	CNS demyelination (HP:0007305)	1.84395255
81	Methylmalonic aciduria (HP:0012120)	1.83733469
82	Chromsome breakage (HP:0040012)	1.83710308
83	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.81383097
84	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.81383097
85	Short tibia (HP:0005736)	1.79124268
86	Increased muscle lipid content (HP:0009058)	1.79111141
87	Lissencephaly (HP:0001339)	1.77531299
88	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.76651983
89	Abnormality of the preputium (HP:0100587)	1.75991007
90	Exercise intolerance (HP:0003546)	1.74053524
91	Cystic liver disease (HP:0006706)	1.73955325
92	Concave nail (HP:0001598)	1.73878246
93	Chronic hepatic failure (HP:0100626)	1.73719918
94	Abnormality of chromosome stability (HP:0003220)	1.73690383
95	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.70136853
96	Abnormality of serum amino acid levels (HP:0003112)	1.69935756
97	Abnormal rod and cone electroretinograms (HP:0008323)	1.68560469
98	Abnormality of the labia minora (HP:0012880)	1.67295370
99	Pancytopenia (HP:0001876)	1.67017232
100	Progressive inability to walk (HP:0002505)	1.66631720

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BMPR1B	3.33193511
2	INSRR	3.20341524
3	FRK	3.09821483
4	ZAK	2.81469644
5	BUB1	2.73879870
6	TAOK3	2.64146805
7	VRK2	2.63387286
8	NUAK1	2.58333883
9	STK16	2.45054856
10	ACVR1B	2.23441394
11	WNK3	2.11502732
12	VRK1	2.01109111
13	SRPK1	1.96099639
14	MAP4K2	1.91229386
15	PBK	1.82162040
16	WNK4	1.76920725
17	MST4	1.75608903
18	ADRBK2	1.72552635
19	TLK1	1.71782743
20	PLK4	1.68123912
21	CDC7	1.64838013
22	TXK	1.60498983
23	EIF2AK1	1.53163113
24	GRK1	1.52069864
25	BRSK2	1.50974867
26	PLK3	1.49991538
27	WEE1	1.44428038
28	EIF2AK3	1.42921737
29	TRIM28	1.41887956
30	MKNK2	1.38608507
31	STK39	1.37355317
32	TNIK	1.26947861
33	PDK2	1.26033367
34	PINK1	1.25925664
35	NEK1	1.20893577
36	CASK	1.20424835
37	ERBB3	1.14847266
38	TGFBR1	1.12303205
39	MAPK13	1.10630308
40	OXSR1	1.06919841
41	CCNB1	1.04656867
42	PLK1	1.04509528
43	MKNK1	1.03837209
44	MARK3	1.03692039
45	TAF1	1.02393341
46	MAP3K4	0.95883344
47	TTK	0.95646468
48	PNCK	0.94816396
49	TSSK6	0.94640203
50	BCKDK	0.86177170
51	DYRK2	0.82225297
52	CHEK2	0.80446090
53	STK38L	0.78807083
54	CAMKK2	0.78334831
55	NME1	0.76288184
56	ATR	0.76069511
57	ADRBK1	0.75402468
58	RPS6KA5	0.74603162
59	NEK2	0.73013812
60	CDK8	0.71083479
61	CSNK1G1	0.68298943
62	PIM1	0.66052590
63	AURKB	0.64356603
64	STK10	0.63727830
65	CDK3	0.63725928
66	PLK2	0.63420366
67	MAPKAPK5	0.62844119
68	CSNK1G3	0.62818806
69	EIF2AK2	0.62133892
70	CSNK1G2	0.58206371
71	STK3	0.57606485
72	PRKCG	0.56312342
73	BCR	0.56079994
74	PAK3	0.53578278
75	IKBKB	0.51863160
76	MAP2K7	0.51618086
77	BRSK1	0.51351224
78	TEC	0.51040810
79	CSNK2A1	0.50600391
80	MAPKAPK3	0.50559209
81	AURKA	0.49152554
82	ATM	0.48497860
83	CSNK2A2	0.47834889
84	PASK	0.47357794
85	BMPR2	0.47109012
86	PKN1	0.46947774
87	PRKCI	0.46584224
88	CSNK1A1L	0.44350146
89	TNK2	0.43849413
90	MUSK	0.41388672
91	PRKCE	0.39815273
92	GRK7	0.37965314
93	CSNK1A1	0.37959349
94	RPS6KB2	0.37057089
95	CHEK1	0.35046874
96	NLK	0.33322363
97	PRKCQ	0.32969468
98	CLK1	0.32772173
99	CSNK1E	0.32087655
100	PRKACA	0.30095056

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.57183349
2	Ribosome_Homo sapiens_hsa03010	3.36677680
3	RNA polymerase_Homo sapiens_hsa03020	3.08942365
4	Proteasome_Homo sapiens_hsa03050	3.02004415
5	Parkinsons disease_Homo sapiens_hsa05012	2.90162895
6	Protein export_Homo sapiens_hsa03060	2.74286661
7	Homologous recombination_Homo sapiens_hsa03440	2.57197103
8	Basal transcription factors_Homo sapiens_hsa03022	2.28679754
9	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.27574770
10	Mismatch repair_Homo sapiens_hsa03430	2.23965510
11	RNA degradation_Homo sapiens_hsa03018	2.10956724
12	Fanconi anemia pathway_Homo sapiens_hsa03460	2.05840660
13	Huntingtons disease_Homo sapiens_hsa05016	2.05627682
14	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.05507374
15	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.95716607
16	DNA replication_Homo sapiens_hsa03030	1.95041952
17	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.82392615
18	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.78901659
19	Alzheimers disease_Homo sapiens_hsa05010	1.78249075
20	Nucleotide excision repair_Homo sapiens_hsa03420	1.68590987
21	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.68316259
22	One carbon pool by folate_Homo sapiens_hsa00670	1.66637887
23	Pyrimidine metabolism_Homo sapiens_hsa00240	1.60712480
24	Non-homologous end-joining_Homo sapiens_hsa03450	1.59340720
25	Base excision repair_Homo sapiens_hsa03410	1.54871676
26	Spliceosome_Homo sapiens_hsa03040	1.51308650
27	Propanoate metabolism_Homo sapiens_hsa00640	1.50809836
28	RNA transport_Homo sapiens_hsa03013	1.47887346
29	Phototransduction_Homo sapiens_hsa04744	1.44490774
30	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.42432063
31	Butanoate metabolism_Homo sapiens_hsa00650	1.40639096
32	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.40146504
33	Selenocompound metabolism_Homo sapiens_hsa00450	1.37703787
34	Nitrogen metabolism_Homo sapiens_hsa00910	1.20352273
35	Purine metabolism_Homo sapiens_hsa00230	1.19115179
36	Linoleic acid metabolism_Homo sapiens_hsa00591	1.17798103
37	Caffeine metabolism_Homo sapiens_hsa00232	1.17598031
38	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.17592994
39	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.16207544
40	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.13301721
41	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.12319814
42	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.12070858
43	Cardiac muscle contraction_Homo sapiens_hsa04260	1.11228263
44	Peroxisome_Homo sapiens_hsa04146	1.10405266
45	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.09982612
46	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.08326601
47	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.05645643
48	Folate biosynthesis_Homo sapiens_hsa00790	1.01687411
49	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.01579163
50	Steroid biosynthesis_Homo sapiens_hsa00100	1.00646174
51	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.00199364
52	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.95643692
53	Cell cycle_Homo sapiens_hsa04110	0.93253018
54	Chemical carcinogenesis_Homo sapiens_hsa05204	0.89533246
55	Tryptophan metabolism_Homo sapiens_hsa00380	0.85587613
56	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.84935266
57	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.84497746
58	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.82443727
59	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.82186939
60	Collecting duct acid secretion_Homo sapiens_hsa04966	0.81924638
61	Metabolic pathways_Homo sapiens_hsa01100	0.79818675
62	Regulation of autophagy_Homo sapiens_hsa04140	0.79460290
63	Ether lipid metabolism_Homo sapiens_hsa00565	0.76288676
64	Sulfur relay system_Homo sapiens_hsa04122	0.76246554
65	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.75624740
66	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.75054491
67	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.74993150
68	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.74670125
69	Retinol metabolism_Homo sapiens_hsa00830	0.74504493
70	Asthma_Homo sapiens_hsa05310	0.70483494
71	Sulfur metabolism_Homo sapiens_hsa00920	0.70281344
72	Pyruvate metabolism_Homo sapiens_hsa00620	0.66283564
73	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.65477595
74	Fatty acid elongation_Homo sapiens_hsa00062	0.64616352
75	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.60975821
76	Glutathione metabolism_Homo sapiens_hsa00480	0.58308444
77	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.55148048
78	Olfactory transduction_Homo sapiens_hsa04740	0.54988688
79	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.54939857
80	p53 signaling pathway_Homo sapiens_hsa04115	0.53010062
81	Primary immunodeficiency_Homo sapiens_hsa05340	0.49309153
82	mRNA surveillance pathway_Homo sapiens_hsa03015	0.46337584
83	Nicotine addiction_Homo sapiens_hsa05033	0.44437276
84	Oocyte meiosis_Homo sapiens_hsa04114	0.41278516
85	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.39738228
86	Fat digestion and absorption_Homo sapiens_hsa04975	0.35283732
87	Allograft rejection_Homo sapiens_hsa05330	0.34955608
88	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.33399976
89	beta-Alanine metabolism_Homo sapiens_hsa00410	0.32372530
90	Type I diabetes mellitus_Homo sapiens_hsa04940	0.31629757
91	Taste transduction_Homo sapiens_hsa04742	0.31283972
92	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.30466977
93	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.29915229
94	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.29740506
95	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.27639778
96	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.27580802
97	Graft-versus-host disease_Homo sapiens_hsa05332	0.26565830
98	Fatty acid degradation_Homo sapiens_hsa00071	0.22833015
99	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.21272454
100	Mineral absorption_Homo sapiens_hsa04978	0.19442326

C1orf131

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

Tissue Expression Export image »

Cell Line Expression Export image »