ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	5.41580949
2	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.83697949
3	ATP synthesis coupled proton transport (GO:0015986)	4.83697949
4	DNA deamination (GO:0045006)	4.78281185
5	ribonucleoprotein complex disassembly (GO:0032988)	4.71033212
6	protein neddylation (GO:0045116)	4.69711121
7	organelle disassembly (GO:1903008)	4.65325520
8	chaperone-mediated protein transport (GO:0072321)	4.65296866
9	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.53199597
10	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.53199597
11	NADH dehydrogenase complex assembly (GO:0010257)	4.53199597
12	protein complex biogenesis (GO:0070271)	4.48974750
13	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.37494768
14	respiratory electron transport chain (GO:0022904)	4.19510315
15	iron-sulfur cluster assembly (GO:0016226)	4.13258655
16	metallo-sulfur cluster assembly (GO:0031163)	4.13258655
17	electron transport chain (GO:0022900)	4.12154257
18	mitochondrial respiratory chain complex assembly (GO:0033108)	4.10016122
19	sequestering of actin monomers (GO:0042989)	3.95136112
20	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.93200779
21	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.93200779
22	base-excision repair, AP site formation (GO:0006285)	3.90304854
23	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.85306081
24	pyrimidine nucleobase catabolic process (GO:0006208)	3.72702885
25	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.72236950
26	protein deneddylation (GO:0000338)	3.67329993
27	positive regulation of mitochondrial fission (GO:0090141)	3.66808604
28	protein insertion into membrane (GO:0051205)	3.66761220
29	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO	3.60146805
30	behavioral response to nicotine (GO:0035095)	3.59702623
31	regulation of sarcomere organization (GO:0060297)	3.44869287
32	respiratory chain complex IV assembly (GO:0008535)	3.42088772
33	cullin deneddylation (GO:0010388)	3.39088158
34	platelet dense granule organization (GO:0060155)	3.35570660
35	pyrimidine nucleotide catabolic process (GO:0006244)	3.33493596
36	hydrogen ion transmembrane transport (GO:1902600)	3.31353562
37	protein targeting to mitochondrion (GO:0006626)	3.29188620
38	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.28926454
39	proteasome assembly (GO:0043248)	3.25463292
40	proton transport (GO:0015992)	3.21971061
41	cytochrome complex assembly (GO:0017004)	3.21969380
42	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.20047745
43	establishment of protein localization to mitochondrion (GO:0072655)	3.16386746
44	protein-cofactor linkage (GO:0018065)	3.15933486
45	hydrogen transport (GO:0006818)	3.15733476
46	protein localization to mitochondrion (GO:0070585)	3.14011048
47	preassembly of GPI anchor in ER membrane (GO:0016254)	3.13288369
48	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.13035793
49	termination of RNA polymerase III transcription (GO:0006386)	3.13035793
50	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.02928216
51	mannosylation (GO:0097502)	3.00098838
52	pseudouridine synthesis (GO:0001522)	2.94065206
53	cytidine metabolic process (GO:0046087)	2.88759068
54	cytidine catabolic process (GO:0006216)	2.88759068
55	cytidine deamination (GO:0009972)	2.88759068
56	negative regulation of organelle assembly (GO:1902116)	2.88013400
57	water-soluble vitamin biosynthetic process (GO:0042364)	2.86148324
58	negative regulation of nitric-oxide synthase activity (GO:0051001)	2.85806960
59	regulation of cellular amino acid metabolic process (GO:0006521)	2.84684197
60	peptidyl-histidine modification (GO:0018202)	2.84077958
61	nucleobase catabolic process (GO:0046113)	2.84025741
62	ubiquinone biosynthetic process (GO:0006744)	2.83789092
63	regulation of skeletal muscle contraction (GO:0014819)	2.83563332
64	GPI anchor metabolic process (GO:0006505)	2.81071566
65	positive regulation of protein homodimerization activity (GO:0090073)	2.78262887
66	ATP biosynthetic process (GO:0006754)	2.78141908
67	ATP hydrolysis coupled proton transport (GO:0015991)	2.77023592
68	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	2.77023592
69	DNA demethylation (GO:0080111)	2.76774741
70	ubiquinone metabolic process (GO:0006743)	2.73203176
71	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.72213071
72	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.69674492
73	pyrimidine-containing compound catabolic process (GO:0072529)	2.67316003
74	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.67263556
75	amino acid salvage (GO:0043102)	2.66474105
76	L-methionine salvage (GO:0071267)	2.66474105
77	L-methionine biosynthetic process (GO:0071265)	2.66474105
78	positive regulation of TOR signaling (GO:0032008)	2.65178293
79	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.64098553
80	pyrimidine ribonucleoside catabolic process (GO:0046133)	2.62237838
81	intracellular protein transmembrane import (GO:0044743)	2.59130918
82	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.58825530
83	DNA dealkylation (GO:0035510)	2.58404360
84	positive regulation of microtubule polymerization or depolymerization (GO:0031112)	2.57662661
85	GTP biosynthetic process (GO:0006183)	2.53438418
86	deoxyribonucleotide catabolic process (GO:0009264)	2.51660974
87	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.49609996
88	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.49609996
89	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.49609996
90	negative regulation of telomere maintenance (GO:0032205)	2.49547969
91	regulation of cilium movement (GO:0003352)	2.48313439
92	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.48222692
93	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.48222692
94	oxidative phosphorylation (GO:0006119)	2.48055003
95	peroxisome fission (GO:0016559)	2.47874335
96	mitochondrial transport (GO:0006839)	2.47830331
97	regulation of action potential (GO:0098900)	2.47217207
98	C-terminal protein lipidation (GO:0006501)	2.47027773
99	DNA double-strand break processing (GO:0000729)	2.44474159
100	regulation of mitochondrial translation (GO:0070129)	2.43418467

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GABP_17652178_ChIP-ChIP_JURKAT_Human	4.29944459
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.09108579
3	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.53904513
4	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.47735139
5	VDR_22108803_ChIP-Seq_LS180_Human	3.35834919
6	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.31116130
7	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.24681632
8	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.24575020
9	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.99857128
10	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.91901962
11	ZNF274_21170338_ChIP-Seq_K562_Hela	2.83137093
12	EZH2_22144423_ChIP-Seq_EOC_Human	2.79748878
13	IGF1R_20145208_ChIP-Seq_DFB_Human	2.73549635
14	VDR_23849224_ChIP-Seq_CD4+_Human	2.52441331
15	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.42612263
16	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.41401795
17	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.28086532
18	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.18114159
19	FOXP3_21729870_ChIP-Seq_TREG_Human	1.96498800
20	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.90738393
21	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.89679684
22	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.87719453
23	GABP_19822575_ChIP-Seq_HepG2_Human	1.84053891
24	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.83898105
25	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.81932731
26	* ELK1_19687146_ChIP-ChIP_HELA_Human	1.81155945
27	IRF1_19129219_ChIP-ChIP_H3396_Human	1.78728370
28	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.74679070
29	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.61738788
30	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.61362429
31	TAF15_26573619_Chip-Seq_HEK293_Human	1.59849914
32	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.58562003
33	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.58178422
34	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.55941441
35	TP53_22573176_ChIP-Seq_HFKS_Human	1.54014591
36	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.49166678
37	DCP1A_22483619_ChIP-Seq_HELA_Human	1.47032777
38	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.41972895
39	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.38771386
40	GBX2_23144817_ChIP-Seq_PC3_Human	1.37226962
41	MYC_18940864_ChIP-ChIP_HL60_Human	1.28219570
42	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.27320065
43	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.26655796
44	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.25176101
45	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.24623251
46	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.24090618
47	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.23302948
48	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.22748378
49	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.22468971
50	EWS_26573619_Chip-Seq_HEK293_Human	1.22356884
51	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.22086433
52	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.22021613
53	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.21672256
54	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.18596905
55	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.18529737
56	TTF2_22483619_ChIP-Seq_HELA_Human	1.17922622
57	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.15810798
58	NCOR_22424771_ChIP-Seq_293T_Human	1.15103357
59	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.14142912
60	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.13447129
61	CBP_20019798_ChIP-Seq_JUKART_Human	1.13447129
62	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.11487088
63	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.09272158
64	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.07451558
65	CIITA_25753668_ChIP-Seq_RAJI_Human	1.07282750
66	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.03331923
67	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.02650833
68	P300_19829295_ChIP-Seq_ESCs_Human	1.00479831
69	FUS_26573619_Chip-Seq_HEK293_Human	0.99023892
70	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.98653521
71	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.96694894
72	REST_21632747_ChIP-Seq_MESCs_Mouse	0.94993932
73	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.93805653
74	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.93419854
75	AR_20517297_ChIP-Seq_VCAP_Human	0.93313381
76	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.93147056
77	HTT_18923047_ChIP-ChIP_STHdh_Human	0.92952093
78	MYC_18555785_ChIP-Seq_MESCs_Mouse	0.92094478
79	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	0.92077342
80	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.92038174
81	* MYC_19829295_ChIP-Seq_ESCs_Human	0.91642390
82	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.91256001
83	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.91060755
84	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.91060755
85	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.90387007
86	XRN2_22483619_ChIP-Seq_HELA_Human	0.88963694
87	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	0.86924712
88	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.86869930
89	MEIS1_20887958_ChIP-Seq_HPC-7_Mouse	0.86469684
90	ERG_20517297_ChIP-Seq_VCAP_Human	0.85721224
91	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.85468724
92	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.85301555
93	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	0.85189226
94	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.84853875
95	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.84703147
96	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.84554689
97	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.84061426
98	IRF8_21731497_ChIP-ChIP_J774_Mouse	0.83450608
99	TAF2_19829295_ChIP-Seq_ESCs_Human	0.83129508
100	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.82932225

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	3.98303536
2	MP0003787_abnormal_imprinting	3.55936727
3	MP0001529_abnormal_vocalization	3.05516510
4	MP0003880_abnormal_central_pattern	3.03331105
5	MP0002837_dystrophic_cardiac_calcinosis	2.84700254
6	MP0008877_abnormal_DNA_methylation	2.77320506
7	MP0004147_increased_porphyrin_level	2.34424269
8	MP0008789_abnormal_olfactory_epithelium	2.31699716
9	MP0005645_abnormal_hypothalamus_physiol	2.29389524
10	MP0003121_genomic_imprinting	2.28018733
11	MP0006276_abnormal_autonomic_nervous	2.21914992
12	MP0004142_abnormal_muscle_tone	2.21622378
13	MP0005499_abnormal_olfactory_system	2.02704677
14	MP0005394_taste/olfaction_phenotype	2.02704677
15	MP0006036_abnormal_mitochondrial_physio	2.00361513
16	MP0006035_abnormal_mitochondrial_morpho	1.97420080
17	MP0004145_abnormal_muscle_electrophysio	1.91938101
18	MP0001905_abnormal_dopamine_level	1.90310936
19	MP0001986_abnormal_taste_sensitivity	1.88903077
20	MP0009046_muscle_twitch	1.88437657
21	MP0005084_abnormal_gallbladder_morpholo	1.83807581
22	MP0003122_maternal_imprinting	1.83442376
23	MP0006292_abnormal_olfactory_placode	1.78406126
24	MP0002653_abnormal_ependyma_morphology	1.76483244
25	MP0005671_abnormal_response_to	1.76106528
26	MP0003646_muscle_fatigue	1.76079310
27	MP0001968_abnormal_touch/_nociception	1.74260705
28	MP0003950_abnormal_plasma_membrane	1.67063480
29	MP0004133_heterotaxia	1.63850479
30	MP0005423_abnormal_somatic_nervous	1.58930995
31	MP0006072_abnormal_retinal_apoptosis	1.54898033
32	MP0003011_delayed_dark_adaptation	1.50019336
33	MP0003786_premature_aging	1.46078351
34	MP0003186_abnormal_redox_activity	1.45879605
35	MP0005551_abnormal_eye_electrophysiolog	1.42025198
36	MP0008058_abnormal_DNA_repair	1.41232189
37	MP0000749_muscle_degeneration	1.35587545
38	MP0002272_abnormal_nervous_system	1.31466086
39	MP0008872_abnormal_physiological_respon	1.30890880
40	MP0002638_abnormal_pupillary_reflex	1.30599135
41	MP0001188_hyperpigmentation	1.27075426
42	MP0004270_analgesia	1.26105809
43	MP0005253_abnormal_eye_physiology	1.24273696
44	MP0002736_abnormal_nociception_after	1.23777789
45	MP0000778_abnormal_nervous_system	1.22592265
46	MP0003718_maternal_effect	1.20994975
47	MP0002733_abnormal_thermal_nociception	1.20405572
48	MP0001970_abnormal_pain_threshold	1.16912607
49	MP0005386_behavior/neurological_phenoty	1.13913065
50	MP0004924_abnormal_behavior	1.13913065
51	MP0001542_abnormal_bone_strength	1.13650048
52	MP0001919_abnormal_reproductive_system	1.13207781
53	MP0000372_irregular_coat_pigmentation	1.11624063
54	MP0002734_abnormal_mechanical_nocicepti	1.10561583
55	MP0009745_abnormal_behavioral_response	1.10085365
56	MP0002067_abnormal_sensory_capabilities	1.08488192
57	MP0001984_abnormal_olfaction	1.08278722
58	MP0002234_abnormal_pharynx_morphology	1.06468219
59	MP0005389_reproductive_system_phenotype	1.06171558
60	MP0002928_abnormal_bile_duct	1.04620490
61	MP0002751_abnormal_autonomic_nervous	1.03761709
62	MP0009764_decreased_sensitivity_to	1.03668843
63	MP0008875_abnormal_xenobiotic_pharmacok	0.99756283
64	MP0003137_abnormal_impulse_conducting	0.98846210
65	MP0001764_abnormal_homeostasis	0.97184249
66	MP0002163_abnormal_gland_morphology	0.94728527
67	MP0001486_abnormal_startle_reflex	0.94429307
68	MP0002160_abnormal_reproductive_system	0.93712359
69	MP0004215_abnormal_myocardial_fiber	0.92439065
70	MP0003635_abnormal_synaptic_transmissio	0.89352936
71	MP0005379_endocrine/exocrine_gland_phen	0.89279202
72	MP0002822_catalepsy	0.88187845
73	MP0002557_abnormal_social/conspecific_i	0.87797200
74	MP0005410_abnormal_fertilization	0.87589795
75	MP0000631_abnormal_neuroendocrine_gland	0.86540137
76	MP0000358_abnormal_cell_content/	0.84900744
77	MP0002184_abnormal_innervation	0.83678252
78	MP0009785_altered_susceptibility_to	0.82758928
79	MP0005646_abnormal_pituitary_gland	0.82518109
80	MP0010386_abnormal_urinary_bladder	0.81136770
81	MP0004742_abnormal_vestibular_system	0.80058659
82	MP0002752_abnormal_somatic_nervous	0.79903169
83	MP0003806_abnormal_nucleotide_metabolis	0.76712646
84	MP0008775_abnormal_heart_ventricle	0.76449585
85	MP0002572_abnormal_emotion/affect_behav	0.74704523
86	MP0003252_abnormal_bile_duct	0.71949633
87	MP0002063_abnormal_learning/memory/cond	0.71448412
88	MP0008995_early_reproductive_senescence	0.71080538
89	MP0004811_abnormal_neuron_physiology	0.71076539
90	MP0002735_abnormal_chemical_nociception	0.68714322
91	MP0001485_abnormal_pinna_reflex	0.68200172
92	MP0002229_neurodegeneration	0.68040282
93	MP0005266_abnormal_metabolism	0.66843918
94	MP0001293_anophthalmia	0.66290219
95	MP0002882_abnormal_neuron_morphology	0.64549733
96	MP0002064_seizures	0.63834172
97	MP0002277_abnormal_respiratory_mucosa	0.62574355
98	MP0003693_abnormal_embryo_hatching	0.61756307
99	MP0001929_abnormal_gametogenesis	0.61555240
100	MP0002148_abnormal_hypersensitivity_rea	0.61380699

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	4.91711380
2	Abnormal mitochondria in muscle tissue (HP:0008316)	4.63101804
3	Mitochondrial inheritance (HP:0001427)	4.38026294
4	Acute encephalopathy (HP:0006846)	4.34391396
5	Hepatocellular necrosis (HP:0001404)	4.16324032
6	Increased CSF lactate (HP:0002490)	3.94239526
7	Progressive macrocephaly (HP:0004481)	3.94088812
8	Hepatic necrosis (HP:0002605)	3.71539092
9	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.67552542
10	3-Methylglutaconic aciduria (HP:0003535)	3.47865175
11	Cerebral edema (HP:0002181)	3.25907312
12	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.20492832
13	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.20492832
14	Increased hepatocellular lipid droplets (HP:0006565)	3.12196141
15	Renal cortical cysts (HP:0000803)	3.07935030
16	Renal Fanconi syndrome (HP:0001994)	3.05928190
17	Lipid accumulation in hepatocytes (HP:0006561)	2.93954774
18	Increased serum lactate (HP:0002151)	2.92764478
19	Poor suck (HP:0002033)	2.87150046
20	Pancreatic cysts (HP:0001737)	2.84411330
21	Lactic acidosis (HP:0003128)	2.82187730
22	Increased serum pyruvate (HP:0003542)	2.76895709
23	Abnormality of alanine metabolism (HP:0010916)	2.70254616
24	Hyperalaninemia (HP:0003348)	2.70254616
25	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.70254616
26	Exercise-induced muscle cramps (HP:0003710)	2.68391528
27	Optic disc pallor (HP:0000543)	2.65614262
28	Abnormality of midbrain morphology (HP:0002418)	2.61822244
29	Molar tooth sign on MRI (HP:0002419)	2.61822244
30	Abnormal rod and cone electroretinograms (HP:0008323)	2.61329869
31	Pancreatic fibrosis (HP:0100732)	2.60027278
32	Agitation (HP:0000713)	2.59129350
33	Increased intramyocellular lipid droplets (HP:0012240)	2.56076778
34	Medial flaring of the eyebrow (HP:0010747)	2.46453650
35	Calf muscle hypertrophy (HP:0008981)	2.44337206
36	True hermaphroditism (HP:0010459)	2.43377111
37	Chronic hepatic failure (HP:0100626)	2.39291378
38	Polyphagia (HP:0002591)	2.38976664
39	Methylmalonic aciduria (HP:0012120)	2.35073844
40	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.33728196
41	Generalized aminoaciduria (HP:0002909)	2.32252338
42	Myotonia (HP:0002486)	2.30910696
43	Exercise intolerance (HP:0003546)	2.29043360
44	Respiratory failure (HP:0002878)	2.27153196
45	Failure to thrive in infancy (HP:0001531)	2.25516959
46	Progressive microcephaly (HP:0000253)	2.23826727
47	Muscle hypertrophy of the lower extremities (HP:0008968)	2.21416921
48	Abolished electroretinogram (ERG) (HP:0000550)	2.20983841
49	Abnormality of glycolysis (HP:0004366)	2.20116135
50	Myokymia (HP:0002411)	2.19332886
51	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.18235673
52	Adrenal hypoplasia (HP:0000835)	2.16215908
53	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.15772618
54	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.15772618
55	CNS demyelination (HP:0007305)	2.15742922
56	Increased muscle lipid content (HP:0009058)	2.12460508
57	Brushfield spots (HP:0001088)	2.06136035
58	Hyperglycinemia (HP:0002154)	2.03623290
59	Lethargy (HP:0001254)	2.01800769
60	Methylmalonic acidemia (HP:0002912)	2.01593728
61	Constricted visual fields (HP:0001133)	2.01195626
62	Leukodystrophy (HP:0002415)	2.01133401
63	Microvesicular hepatic steatosis (HP:0001414)	2.00259352
64	Bony spicule pigmentary retinopathy (HP:0007737)	2.00135789
65	Retinal dysplasia (HP:0007973)	2.00056954
66	Type 2 muscle fiber atrophy (HP:0003554)	1.99105350
67	Abnormality of renal resorption (HP:0011038)	1.99007737
68	Abnormality of the labia minora (HP:0012880)	1.95640641
69	Exertional dyspnea (HP:0002875)	1.95247301
70	Parakeratosis (HP:0001036)	1.94741976
71	IgG deficiency (HP:0004315)	1.93760295
72	Abnormality of the renal cortex (HP:0011035)	1.91644881
73	Bile duct proliferation (HP:0001408)	1.91621319
74	Abnormal biliary tract physiology (HP:0012439)	1.91621319
75	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.91379855
76	Gait imbalance (HP:0002141)	1.91253432
77	Emotional lability (HP:0000712)	1.90947536
78	Attenuation of retinal blood vessels (HP:0007843)	1.89156893
79	Stomatitis (HP:0010280)	1.88053418
80	Congenital primary aphakia (HP:0007707)	1.87557035
81	Abnormal protein glycosylation (HP:0012346)	1.83197476
82	Abnormal glycosylation (HP:0012345)	1.83197476
83	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.83197476
84	Abnormal protein N-linked glycosylation (HP:0012347)	1.83197476
85	Inability to walk (HP:0002540)	1.82820967
86	Lissencephaly (HP:0001339)	1.81407479
87	X-linked dominant inheritance (HP:0001423)	1.80400156
88	Male pseudohermaphroditism (HP:0000037)	1.80307016
89	Sclerocornea (HP:0000647)	1.80204041
90	Nephronophthisis (HP:0000090)	1.79834819
91	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.78204408
92	Dicarboxylic aciduria (HP:0003215)	1.77128076
93	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.77128076
94	Nephrogenic diabetes insipidus (HP:0009806)	1.76489942
95	Abnormality of urine glucose concentration (HP:0011016)	1.72961083
96	Glycosuria (HP:0003076)	1.72961083
97	Muscle fiber atrophy (HP:0100295)	1.72869963
98	Impaired vibration sensation in the lower limbs (HP:0002166)	1.70245904
99	Short tibia (HP:0005736)	1.69152997
100	Absent speech (HP:0001344)	1.67455564

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	CDK19	2.71113717
2	MAP4K2	2.71034712
3	STK16	2.66100149
4	MAP2K7	2.60340442
5	MAP3K4	2.59199648
6	PIM2	2.38676892
7	WNK3	2.25101383
8	BMPR1B	2.14785351
9	ZAK	2.13248071
10	TRIM28	2.08051083
11	CDK8	2.01778449
12	BCR	1.94620454
13	TESK2	1.84920694
14	DYRK2	1.83774352
15	BCKDK	1.79781928
16	PINK1	1.78266002
17	TXK	1.74213191
18	ADRBK2	1.71798575
19	TIE1	1.67321283
20	MAPKAPK5	1.64842815
21	MUSK	1.62739804
22	CSNK1G3	1.56397114
23	CSNK1G2	1.52308818
24	MAPK13	1.51620079
25	VRK1	1.42886890
26	MARK1	1.41744968
27	MAP3K11	1.35548677
28	CCNB1	1.34402708
29	KDR	1.29934548
30	BUB1	1.27529105
31	CSNK1A1L	1.19966643
32	DYRK3	1.19680698
33	EIF2AK3	1.19353033
34	MINK1	1.18610817
35	CSNK1G1	1.17378956
36	ERBB3	1.17211476
37	EPHA4	1.17069454
38	DAPK2	1.16711464
39	SRPK1	1.16254036
40	NUAK1	1.13779377
41	TLK1	1.12172709
42	LIMK1	1.10203959
43	VRK2	1.09110351
44	PLK4	1.08577419
45	GRK1	1.08079299
46	MAP3K5	1.02718774
47	PLK2	0.95960009
48	EIF2AK1	0.92070611
49	MST4	0.87053642
50	MAP3K12	0.83338560
51	TESK1	0.81531775
52	MARK3	0.80971336
53	INSRR	0.77714003
54	PRKCG	0.76883479
55	DAPK3	0.76463370
56	CASK	0.74961431
57	TEC	0.74625952
58	PKN1	0.71390099
59	PAK3	0.69294436
60	MATK	0.69191473
61	PIK3CG	0.68808394
62	NME1	0.68254488
63	RPS6KA5	0.66023500
64	CDK14	0.65422319
65	DAPK1	0.65293427
66	ARAF	0.64464886
67	TAOK3	0.63539709
68	AURKA	0.63254513
69	NME2	0.61874524
70	PIM1	0.58567876
71	DYRK1B	0.57510073
72	CAMK2A	0.57176150
73	PDK2	0.56919525
74	GRK7	0.56422015
75	MAP2K4	0.56283251
76	SIK3	0.55525687
77	SYK	0.55284686
78	IKBKB	0.55091445
79	ABL2	0.54479435
80	OXSR1	0.52361262
81	OBSCN	0.51991950
82	PRKACA	0.48352825
83	CAMK2D	0.45822004
84	PRKCE	0.45798186
85	PRKCQ	0.45340423
86	WNK4	0.44776647
87	MAP3K6	0.43795990
88	CDK11A	0.43705273
89	NTRK2	0.43658896
90	CAMK2G	0.42982177
91	PAK6	0.42896904
92	PAK1	0.41244499
93	PLK1	0.40748129
94	CSNK1A1	0.40304034
95	CDK5	0.38280010
96	CDK18	0.38177197
97	CSNK2A1	0.38147983
98	SCYL2	0.37630652
99	LYN	0.37282627
100	PHKG2	0.36163341

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	4.93231434
2	Parkinsons disease_Homo sapiens_hsa05012	4.34998670
3	Proteasome_Homo sapiens_hsa03050	3.38270145
4	Protein export_Homo sapiens_hsa03060	2.75102115
5	Alzheimers disease_Homo sapiens_hsa05010	2.68321725
6	Huntingtons disease_Homo sapiens_hsa05016	2.67468174
7	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.62996126
8	Cardiac muscle contraction_Homo sapiens_hsa04260	2.45010520
9	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.38342254
10	RNA polymerase_Homo sapiens_hsa03020	2.28511539
11	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.23848787
12	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.20433358
13	Collecting duct acid secretion_Homo sapiens_hsa04966	2.08136413
14	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.85736383
15	Ribosome_Homo sapiens_hsa03010	1.79444824
16	Phototransduction_Homo sapiens_hsa04744	1.71387482
17	Steroid biosynthesis_Homo sapiens_hsa00100	1.65148154
18	Butanoate metabolism_Homo sapiens_hsa00650	1.50058358
19	Basal transcription factors_Homo sapiens_hsa03022	1.44176986
20	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.38460860
21	Peroxisome_Homo sapiens_hsa04146	1.36968550
22	Propanoate metabolism_Homo sapiens_hsa00640	1.31462042
23	Primary immunodeficiency_Homo sapiens_hsa05340	1.29491137
24	Rheumatoid arthritis_Homo sapiens_hsa05323	1.28533459
25	Fatty acid elongation_Homo sapiens_hsa00062	1.23775889
26	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.23583849
27	Nicotine addiction_Homo sapiens_hsa05033	1.23322958
28	RNA degradation_Homo sapiens_hsa03018	1.22048843
29	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.19451443
30	Base excision repair_Homo sapiens_hsa03410	1.18448587
31	Sulfur metabolism_Homo sapiens_hsa00920	1.15095644
32	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.05522631
33	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.05369807
34	Nucleotide excision repair_Homo sapiens_hsa03420	1.03999685
35	Regulation of autophagy_Homo sapiens_hsa04140	1.03831178
36	Pyrimidine metabolism_Homo sapiens_hsa00240	1.02152255
37	Asthma_Homo sapiens_hsa05310	0.98853649
38	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.98677867
39	Selenocompound metabolism_Homo sapiens_hsa00450	0.97469443
40	Sulfur relay system_Homo sapiens_hsa04122	0.95905012
41	Folate biosynthesis_Homo sapiens_hsa00790	0.94043087
42	Homologous recombination_Homo sapiens_hsa03440	0.89585112
43	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.89512036
44	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.89149652
45	Spliceosome_Homo sapiens_hsa03040	0.88360208
46	Mismatch repair_Homo sapiens_hsa03430	0.87264046
47	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.86646531
48	Allograft rejection_Homo sapiens_hsa05330	0.85490413
49	Type I diabetes mellitus_Homo sapiens_hsa04940	0.84530668
50	Graft-versus-host disease_Homo sapiens_hsa05332	0.83845301
51	Fanconi anemia pathway_Homo sapiens_hsa03460	0.83491027
52	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.83213819
53	GABAergic synapse_Homo sapiens_hsa04727	0.82734775
54	Tryptophan metabolism_Homo sapiens_hsa00380	0.80834813
55	Metabolic pathways_Homo sapiens_hsa01100	0.79498046
56	Purine metabolism_Homo sapiens_hsa00230	0.76480673
57	Pyruvate metabolism_Homo sapiens_hsa00620	0.76371892
58	Caffeine metabolism_Homo sapiens_hsa00232	0.74571525
59	Vibrio cholerae infection_Homo sapiens_hsa05110	0.72030449
60	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.71708586
61	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.70851553
62	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.70244166
63	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.69151718
64	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.68306832
65	Alcoholism_Homo sapiens_hsa05034	0.68116949
66	beta-Alanine metabolism_Homo sapiens_hsa00410	0.66045569
67	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.65179946
68	Morphine addiction_Homo sapiens_hsa05032	0.64624033
69	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.62109895
70	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.61673340
71	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.60974005
72	Linoleic acid metabolism_Homo sapiens_hsa00591	0.60181798
73	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.57973711
74	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.55292404
75	RNA transport_Homo sapiens_hsa03013	0.53217872
76	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.51097919
77	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.50268606
78	Viral myocarditis_Homo sapiens_hsa05416	0.48192536
79	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.47514643
80	Phagosome_Homo sapiens_hsa04145	0.45371878
81	Taste transduction_Homo sapiens_hsa04742	0.44292591
82	Olfactory transduction_Homo sapiens_hsa04740	0.43172317
83	Serotonergic synapse_Homo sapiens_hsa04726	0.42296985
84	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.41469010
85	Shigellosis_Homo sapiens_hsa05131	0.39807786
86	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.39093524
87	Fatty acid metabolism_Homo sapiens_hsa01212	0.38605569
88	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.37465380
89	Dopaminergic synapse_Homo sapiens_hsa04728	0.36865253
90	Glutathione metabolism_Homo sapiens_hsa00480	0.36221865
91	Salmonella infection_Homo sapiens_hsa05132	0.34907685
92	Nitrogen metabolism_Homo sapiens_hsa00910	0.34432793
93	Ether lipid metabolism_Homo sapiens_hsa00565	0.31993054
94	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.31328289
95	p53 signaling pathway_Homo sapiens_hsa04115	0.31255899
96	Fatty acid degradation_Homo sapiens_hsa00071	0.30383202
97	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.30327662
98	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.29314654
99	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.28484453
100	One carbon pool by folate_Homo sapiens_hsa00670	0.28276469

C1ORF50

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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