ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	5.95271094
2	energy coupled proton transport, down electrochemical gradient (GO:0015985)	5.77689749
3	ATP synthesis coupled proton transport (GO:0015986)	5.77689749
4	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	5.61418151
5	respiratory electron transport chain (GO:0022904)	5.39523397
6	protein complex biogenesis (GO:0070271)	5.38278513
7	electron transport chain (GO:0022900)	5.35743420
8	mitochondrial respiratory chain complex I assembly (GO:0032981)	5.02278523
9	NADH dehydrogenase complex assembly (GO:0010257)	5.02278523
10	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	5.02278523
11	mitochondrial respiratory chain complex assembly (GO:0033108)	4.81742499
12	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.59164928
13	DNA deamination (GO:0045006)	4.44860767
14	respiratory chain complex IV assembly (GO:0008535)	4.35298588
15	proteasome assembly (GO:0043248)	4.22631230
16	cytochrome complex assembly (GO:0017004)	4.20526496
17	chaperone-mediated protein transport (GO:0072321)	4.06592119
18	metallo-sulfur cluster assembly (GO:0031163)	3.89332898
19	iron-sulfur cluster assembly (GO:0016226)	3.89332898
20	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	3.82325954
21	hydrogen ion transmembrane transport (GO:1902600)	3.78467097
22	ATP biosynthetic process (GO:0006754)	3.74613761
23	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.69003894
24	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.68296407
25	regulation of mitochondrial translation (GO:0070129)	3.68039034
26	mannosylation (GO:0097502)	3.56019115
27	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.55416961
28	termination of RNA polymerase III transcription (GO:0006386)	3.55416961
29	proton transport (GO:0015992)	3.53184228
30	ubiquinone biosynthetic process (GO:0006744)	3.51724440
31	hydrogen transport (GO:0006818)	3.48654645
32	GTP biosynthetic process (GO:0006183)	3.48291454
33	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.46629217
34	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.46629217
35	platelet dense granule organization (GO:0060155)	3.43113897
36	regulation of cellular amino acid metabolic process (GO:0006521)	3.42860306
37	protein neddylation (GO:0045116)	3.40629411
38	protein targeting to mitochondrion (GO:0006626)	3.37366554
39	establishment of protein localization to mitochondrion (GO:0072655)	3.34261098
40	rRNA modification (GO:0000154)	3.29791026
41	oxidative phosphorylation (GO:0006119)	3.29267980
42	peptidyl-histidine modification (GO:0018202)	3.24931129
43	protein maturation by protein folding (GO:0022417)	3.20331895
44	ribonucleoside triphosphate biosynthetic process (GO:0009201)	3.12224384
45	pseudouridine synthesis (GO:0001522)	3.07685882
46	autophagic vacuole fusion (GO:0000046)	3.06411074
47	positive regulation of prostaglandin secretion (GO:0032308)	3.03990425
48	protein localization to mitochondrion (GO:0070585)	3.03865366
49	cellular ketone body metabolic process (GO:0046950)	2.99781360
50	response to pheromone (GO:0019236)	2.97772903
51	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.97478525
52	ubiquinone metabolic process (GO:0006743)	2.91873831
53	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.91299691
54	protein deneddylation (GO:0000338)	2.91051708
55	response to interferon-beta (GO:0035456)	2.91012025
56	ribosomal small subunit assembly (GO:0000028)	2.89563625
57	mitochondrial transport (GO:0006839)	2.88859333
58	GDP-mannose metabolic process (GO:0019673)	2.86787459
59	nucleoside triphosphate biosynthetic process (GO:0009142)	2.85131163
60	cullin deneddylation (GO:0010388)	2.85105205
61	inner mitochondrial membrane organization (GO:0007007)	2.84279205
62	UTP biosynthetic process (GO:0006228)	2.82455570
63	water-soluble vitamin biosynthetic process (GO:0042364)	2.82306560
64	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.81944057
65	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.81944057
66	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.81944057
67	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.81587496
68	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.81587496
69	base-excision repair, AP site formation (GO:0006285)	2.81435582
70	quinone biosynthetic process (GO:1901663)	2.81295121
71	aerobic respiration (GO:0009060)	2.80849167
72	regulation of cilium movement (GO:0003352)	2.78679727
73	protein-cofactor linkage (GO:0018065)	2.77801153
74	cellular response to interferon-beta (GO:0035458)	2.76557495
75	ribosomal small subunit biogenesis (GO:0042274)	2.75785846
76	ATP hydrolysis coupled proton transport (GO:0015991)	2.75521995
77	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	2.75521995
78	cellular component biogenesis (GO:0044085)	2.74774591
79	guanosine-containing compound biosynthetic process (GO:1901070)	2.74743580
80	viral transcription (GO:0019083)	2.73341755
81	ketone body metabolic process (GO:1902224)	2.73278712
82	purine deoxyribonucleotide catabolic process (GO:0009155)	2.72943417
83	behavioral response to nicotine (GO:0035095)	2.72504124
84	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.72365440
85	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.71821682
86	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.70377368
87	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	2.69349282
88	protein localization to endoplasmic reticulum (GO:0070972)	2.66929877
89	signal transduction involved in DNA integrity checkpoint (GO:0072401)	2.66647940
90	signal transduction involved in DNA damage checkpoint (GO:0072422)	2.66647940
91	protein targeting to ER (GO:0045047)	2.66299514
92	cellular response to zinc ion (GO:0071294)	2.65696846
93	negative regulation of ligase activity (GO:0051352)	2.65477243
94	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.65477243
95	organelle membrane fusion (GO:0090174)	2.64916591
96	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:	2.64536724
97	cotranslational protein targeting to membrane (GO:0006613)	2.62839217
98	intracellular protein transmembrane import (GO:0044743)	2.62252407
99	translation (GO:0006412)	2.61836469
100	UTP metabolic process (GO:0046051)	2.61272254

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	4.03911499
2	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.94506955
3	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.75125355
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.72942157
5	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.56299453
6	* ETS1_20019798_ChIP-Seq_JURKAT_Human	3.20104260
7	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.16117621
8	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.95289172
9	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.81279187
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.76666363
11	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	2.60377990
12	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.55234637
13	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.51560849
14	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	2.37741809
15	* VDR_23849224_ChIP-Seq_CD4+_Human	2.14452026
16	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.09586344
17	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.97503451
18	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.97367066
19	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.93176873
20	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.93065986
21	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.91310641
22	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.90989119
23	BCL6_27268052_Chip-Seq_Bcells_Human	1.86448011
24	* GABP_19822575_ChIP-Seq_HepG2_Human	1.81811783
25	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.81514463
26	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.80404895
27	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.78346221
28	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.77427118
29	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.76372136
30	* ELF1_20517297_ChIP-Seq_JURKAT_Human	1.72806604
31	FOXP3_21729870_ChIP-Seq_TREG_Human	1.67174348
32	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.64275113
33	DCP1A_22483619_ChIP-Seq_HELA_Human	1.60660358
34	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.59876714
35	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.59382963
36	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.55189091
37	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.54558074
38	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.53943840
39	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.52454042
40	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.48066919
41	BCOR_27268052_Chip-Seq_Bcells_Human	1.46488590
42	E2F1_20622854_ChIP-Seq_HELA_Human	1.46046457
43	XRN2_22483619_ChIP-Seq_HELA_Human	1.45727127
44	CTCF_20526341_ChIP-Seq_ESCs_Human	1.44212090
45	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.43611987
46	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.42864749
47	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.41426833
48	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.41299578
49	P68_20966046_ChIP-Seq_HELA_Human	1.39769449
50	TAF2_19829295_ChIP-Seq_ESCs_Human	1.39164563
51	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.38018542
52	ERA_21632823_ChIP-Seq_H3396_Human	1.35680924
53	STAT1_20625510_ChIP-Seq_HELA_Human	1.34970737
54	ZNF274_21170338_ChIP-Seq_K562_Hela	1.34168097
55	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.33379448
56	P300_27268052_Chip-Seq_Bcells_Human	1.32053168
57	PHF8_20622854_ChIP-Seq_HELA_Human	1.31290473
58	* FOXP1_21924763_ChIP-Seq_HESCs_Human	1.28178095
59	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.27510886
60	CTCF_26484167_Chip-Seq_Bcells_Mouse	1.25799446
61	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.25667784
62	MYC_18940864_ChIP-ChIP_HL60_Human	1.25157200
63	SA1_27219007_Chip-Seq_Bcells_Human	1.24328037
64	NANOG_20526341_ChIP-Seq_ESCs_Human	1.24295077
65	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.22832195
66	TTF2_22483619_ChIP-Seq_HELA_Human	1.22272958
67	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.20657828
68	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	1.18512654
69	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.18260464
70	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.17277705
71	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.15771487
72	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.10677737
73	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.09247289
74	RAD21_21589869_ChIP-Seq_MESCs_Mouse	1.08711722
75	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	1.08028437
76	MYC_19829295_ChIP-Seq_ESCs_Human	1.07659094
77	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.07149208
78	ELK1_19687146_ChIP-ChIP_HELA_Human	1.07130488
79	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.05507009
80	RAC3_21632823_ChIP-Seq_H3396_Human	1.04170346
81	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.04164907
82	TP53_22573176_ChIP-Seq_HFKS_Human	1.03542119
83	BMI1_19503595_ChIP-Seq_MEFsC_Mouse	1.02685740
84	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.02352646
85	SPI1_20517297_ChIP-Seq_HL60_Human	1.00853459
86	P53_21459846_ChIP-Seq_SAOS-2_Human	1.00554611
87	ERG_20517297_ChIP-Seq_VCAP_Human	1.00152743
88	* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.00150833
89	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.97350698
90	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.95967664
91	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.95663361
92	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.95151184
93	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.94935427
94	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	0.94637920
95	AR_20517297_ChIP-Seq_VCAP_Human	0.94065981
96	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.92211595
97	CSB_26484114_Chip-Seq_FIBROBLAST_Human	0.92136252
98	KDM5A_27292631_Chip-Seq_BREAST_Human	0.92058627
99	VDR_22108803_ChIP-Seq_LS180_Human	0.90256577
100	SOX2_21211035_ChIP-Seq_LN229_Human	0.90164858

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002837_dystrophic_cardiac_calcinosis	3.48783665
2	MP0003806_abnormal_nucleotide_metabolis	3.47062626
3	MP0006036_abnormal_mitochondrial_physio	3.09025314
4	MP0003646_muscle_fatigue	2.86166808
5	MP0008875_abnormal_xenobiotic_pharmacok	2.44633422
6	MP0000372_irregular_coat_pigmentation	2.43068297
7	MP0003186_abnormal_redox_activity	2.42131405
8	MP0003011_delayed_dark_adaptation	2.38572168
9	MP0005410_abnormal_fertilization	2.35329227
10	MP0004145_abnormal_muscle_electrophysio	2.20234375
11	MP0002876_abnormal_thyroid_physiology	2.14836070
12	MP0001905_abnormal_dopamine_level	2.07601917
13	MP0002653_abnormal_ependyma_morphology	1.75241398
14	MP0005671_abnormal_response_to	1.74878216
15	MP0004147_increased_porphyrin_level	1.74668667
16	MP0003195_calcinosis	1.69341291
17	MP0005645_abnormal_hypothalamus_physiol	1.62424957
18	MP0005084_abnormal_gallbladder_morpholo	1.62294029
19	MP0000749_muscle_degeneration	1.62076216
20	MP0001968_abnormal_touch/_nociception	1.59144580
21	MP0009046_muscle_twitch	1.58600797
22	MP0002148_abnormal_hypersensitivity_rea	1.55211546
23	MP0005670_abnormal_white_adipose	1.54665614
24	MP0005332_abnormal_amino_acid	1.53816976
25	MP0005551_abnormal_eye_electrophysiolog	1.52251120
26	MP0009379_abnormal_foot_pigmentation	1.50733024
27	MP0008872_abnormal_physiological_respon	1.48754882
28	MP0004142_abnormal_muscle_tone	1.48682015
29	MP0003950_abnormal_plasma_membrane	1.45975691
30	MP0005379_endocrine/exocrine_gland_phen	1.45509569
31	MP0006035_abnormal_mitochondrial_morpho	1.44310189
32	MP0006072_abnormal_retinal_apoptosis	1.41713565
33	MP0001764_abnormal_homeostasis	1.41185119
34	MP0009745_abnormal_behavioral_response	1.37053940
35	MP0002736_abnormal_nociception_after	1.34776695
36	MP0005646_abnormal_pituitary_gland	1.34428351
37	MP0003786_premature_aging	1.33710525
38	MP0009840_abnormal_foam_cell	1.30766075
39	MP0004043_abnormal_pH_regulation	1.29600184
40	MP0005075_abnormal_melanosome_morpholog	1.29339723
41	MP0009785_altered_susceptibility_to	1.29021756
42	MP0002163_abnormal_gland_morphology	1.26564731
43	MP0009764_decreased_sensitivity_to	1.19570314
44	MP0000343_altered_response_to	1.19095253
45	MP0002272_abnormal_nervous_system	1.18502825
46	MP0002638_abnormal_pupillary_reflex	1.18254025
47	MP0002102_abnormal_ear_morphology	1.18148375
48	MP0008775_abnormal_heart_ventricle	1.13964819
49	MP0005636_abnormal_mineral_homeostasis	1.13740557
50	MP0002693_abnormal_pancreas_physiology	1.12920921
51	MP0005165_increased_susceptibility_to	1.11172529
52	MP0001970_abnormal_pain_threshold	1.10107669
53	MP0001853_heart_inflammation	1.07561290
54	MP0005365_abnormal_bile_salt	1.06633787
55	MP0005330_cardiomyopathy	1.05742979
56	MP0001529_abnormal_vocalization	1.05395316
57	MP0010386_abnormal_urinary_bladder	1.05079161
58	MP0002064_seizures	1.04867222
59	MP0000750_abnormal_muscle_regeneration	1.04508332
60	MP0001984_abnormal_olfaction	1.02959204
61	MP0000685_abnormal_immune_system	1.01693216
62	MP0005389_reproductive_system_phenotype	1.01399083
63	MP0001986_abnormal_taste_sensitivity	1.01297708
64	MP0001542_abnormal_bone_strength	1.00992849
65	MP0001919_abnormal_reproductive_system	0.99203795
66	MP0009333_abnormal_splenocyte_physiolog	0.98930381
67	MP0009643_abnormal_urine_homeostasis	0.98552049
68	MP0003137_abnormal_impulse_conducting	0.98507970
69	MP0003075_altered_response_to	0.95825951
70	MP0005360_urolithiasis	0.95762042
71	MP0001501_abnormal_sleep_pattern	0.94401219
72	MP0002733_abnormal_thermal_nociception	0.91021305
73	MP0002160_abnormal_reproductive_system	0.90644542
74	MP0005253_abnormal_eye_physiology	0.89742960
75	MP0002277_abnormal_respiratory_mucosa	0.85715812
76	MP0005266_abnormal_metabolism	0.85251226
77	MP0005535_abnormal_body_temperature	0.85008228
78	MP0005083_abnormal_biliary_tract	0.83843862
79	MP0005584_abnormal_enzyme/coenzyme_acti	0.83176006
80	MP0001756_abnormal_urination	0.82162787
81	MP0005408_hypopigmentation	0.81931373
82	MP0008058_abnormal_DNA_repair	0.81595840
83	MP0008469_abnormal_protein_level	0.80918296
84	MP0005319_abnormal_enzyme/_coenzyme	0.80579973
85	MP0002138_abnormal_hepatobiliary_system	0.80414550
86	MP0002332_abnormal_exercise_endurance	0.80265731
87	MP0003880_abnormal_central_pattern	0.80115070
88	MP0004215_abnormal_myocardial_fiber	0.78498113
89	MP0000747_muscle_weakness	0.77035390
90	MP0002572_abnormal_emotion/affect_behav	0.76418919
91	MP0003638_abnormal_response/metabolism_	0.76148337
92	MP0005423_abnormal_somatic_nervous	0.75130946
93	MP0000230_abnormal_systemic_arterial	0.74706173
94	MP0005058_abnormal_lysosome_morphology	0.74531218
95	MP0001835_abnormal_antigen_presentation	0.74229619
96	MP0000358_abnormal_cell_content/	0.73921861
97	MP0002909_abnormal_adrenal_gland	0.73851483
98	MP0005025_abnormal_response_to	0.73748413
99	MP0001790_abnormal_immune_system	0.71535720
100	MP0005387_immune_system_phenotype	0.71535720

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	5.56105841
2	Mitochondrial inheritance (HP:0001427)	5.44936655
3	Abnormal mitochondria in muscle tissue (HP:0008316)	5.43850422
4	Hepatocellular necrosis (HP:0001404)	5.02643999
5	Acute encephalopathy (HP:0006846)	4.86413059
6	Increased CSF lactate (HP:0002490)	4.82169594
7	Hepatic necrosis (HP:0002605)	4.66499593
8	Progressive macrocephaly (HP:0004481)	4.63170993
9	Increased intramyocellular lipid droplets (HP:0012240)	4.19785356
10	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	4.11799867
11	Decreased activity of mitochondrial respiratory chain (HP:0008972)	4.11799867
12	Increased hepatocellular lipid droplets (HP:0006565)	3.91341034
13	Renal Fanconi syndrome (HP:0001994)	3.89951178
14	Increased muscle lipid content (HP:0009058)	3.79974778
15	Lipid accumulation in hepatocytes (HP:0006561)	3.73802223
16	Lactic acidosis (HP:0003128)	3.48343681
17	Cerebral edema (HP:0002181)	3.46948438
18	Increased serum lactate (HP:0002151)	3.42074587
19	3-Methylglutaconic aciduria (HP:0003535)	3.35927287
20	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	3.32230745
21	Respiratory failure (HP:0002878)	3.19903430
22	Exercise intolerance (HP:0003546)	3.10371905
23	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.94375328
24	Exertional dyspnea (HP:0002875)	2.90805133
25	Optic disc pallor (HP:0000543)	2.86064166
26	Type I transferrin isoform profile (HP:0003642)	2.73512888
27	Type II lissencephaly (HP:0007260)	2.68844857
28	Hyperalaninemia (HP:0003348)	2.55176230
29	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.55176230
30	Abnormality of alanine metabolism (HP:0010916)	2.55176230
31	Lethargy (HP:0001254)	2.44475647
32	Opisthotonus (HP:0002179)	2.43982815
33	Congenital stationary night blindness (HP:0007642)	2.41500023
34	Testicular atrophy (HP:0000029)	2.39541011
35	Emotional lability (HP:0000712)	2.39189197
36	Progressive microcephaly (HP:0000253)	2.35755344
37	Abnormal rod and cone electroretinograms (HP:0008323)	2.31434769
38	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.29647835
39	Abnormal protein N-linked glycosylation (HP:0012347)	2.29647835
40	Abnormal protein glycosylation (HP:0012346)	2.29647835
41	Abnormal glycosylation (HP:0012345)	2.29647835
42	Molar tooth sign on MRI (HP:0002419)	2.28622379
43	Abnormality of midbrain morphology (HP:0002418)	2.28622379
44	Methylmalonic aciduria (HP:0012120)	2.28617995
45	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.28357573
46	Dicarboxylic aciduria (HP:0003215)	2.28357573
47	Generalized aminoaciduria (HP:0002909)	2.27030083
48	CNS demyelination (HP:0007305)	2.26970843
49	Abnormal number of erythroid precursors (HP:0012131)	2.24185589
50	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.24076211
51	Abnormality of urine glucose concentration (HP:0011016)	2.21793961
52	Glycosuria (HP:0003076)	2.21793961
53	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.20555211
54	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.19849491
55	Absent/shortened dynein arms (HP:0200106)	2.19849491
56	Elevated erythrocyte sedimentation rate (HP:0003565)	2.19553724
57	Abnormality of renal resorption (HP:0011038)	2.17535987
58	Pancreatic cysts (HP:0001737)	2.13140717
59	Respiratory difficulties (HP:0002880)	2.11077181
60	Severe muscular hypotonia (HP:0006829)	2.09102290
61	Ketoacidosis (HP:0001993)	2.05395574
62	True hermaphroditism (HP:0010459)	2.02403601
63	Aplasia/hypoplasia of the uterus (HP:0008684)	2.02399891
64	Leukodystrophy (HP:0002415)	2.01126600
65	Congenital, generalized hypertrichosis (HP:0004540)	1.99111349
66	Esophageal neoplasm (HP:0100751)	1.96160234
67	Neoplasm of head and neck (HP:0012288)	1.96160234
68	Type 2 muscle fiber atrophy (HP:0003554)	1.94775463
69	Pancreatic fibrosis (HP:0100732)	1.92406531
70	Cerebral palsy (HP:0100021)	1.91867224
71	Microretrognathia (HP:0000308)	1.91655694
72	Myoglobinuria (HP:0002913)	1.91457403
73	Abnormality of cells of the erythroid lineage (HP:0012130)	1.91365346
74	Muscle fiber atrophy (HP:0100295)	1.91333862
75	Ketosis (HP:0001946)	1.89408407
76	Severe visual impairment (HP:0001141)	1.89017679
77	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.85764825
78	Ragged-red muscle fibers (HP:0003200)	1.84806122
79	Abnormality of glycolipid metabolism (HP:0010969)	1.80218615
80	Abnormality of liposaccharide metabolism (HP:0010968)	1.80218615
81	Abnormality of glycosphingolipid metabolism (HP:0004343)	1.80218615
82	Blindness (HP:0000618)	1.74804179
83	Palpitations (HP:0001962)	1.73158991
84	Hyperphosphaturia (HP:0003109)	1.71208077
85	IgG deficiency (HP:0004315)	1.71038325
86	X-linked dominant inheritance (HP:0001423)	1.69191539
87	Sclerocornea (HP:0000647)	1.69152685
88	Abnormal respiratory epithelium morphology (HP:0012253)	1.69014235
89	Abnormal respiratory motile cilium morphology (HP:0005938)	1.69014235
90	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.68949155
91	Vomiting (HP:0002013)	1.68573442
92	Rhabdomyolysis (HP:0003201)	1.68442709
93	Methylmalonic acidemia (HP:0002912)	1.65993006
94	Aplastic anemia (HP:0001915)	1.65533187
95	Nephronophthisis (HP:0000090)	1.62438008
96	Attenuation of retinal blood vessels (HP:0007843)	1.62230691
97	Large for gestational age (HP:0001520)	1.62036760
98	Medial flaring of the eyebrow (HP:0010747)	1.61264362
99	Gliosis (HP:0002171)	1.60252301
100	Abnormality of magnesium homeostasis (HP:0004921)	1.58970238

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	VRK2	4.35361557
2	NME2	3.67595244
3	TESK1	3.22535036
4	BCKDK	3.19715898
5	LIMK1	2.88199894
6	TESK2	2.68086621
7	TLK1	2.64293662
8	PIM2	2.59107284
9	MAP4K2	2.51067918
10	ARAF	2.49671759
11	STK16	2.09984340
12	MAP3K11	2.09513780
13	MAPKAPK3	2.07632771
14	ZAK	1.98891373
15	MAPK15	1.98363333
16	ADRBK2	1.96985046
17	PHKG2	1.96938133
18	PHKG1	1.96938133
19	KDR	1.96033029
20	VRK1	1.95965911
21	CAMKK2	1.93177698
22	ABL2	1.70632228
23	MAP3K12	1.62571338
24	TXK	1.57470013
25	MUSK	1.52405884
26	GRK1	1.51633884
27	CSNK1G3	1.29753201
28	TAOK3	1.25375083
29	DAPK1	1.20242326
30	PINK1	1.18750085
31	OBSCN	1.16935371
32	MYLK	1.16014766
33	NME1	1.10140614
34	INSRR	1.09500112
35	FRK	1.08313269
36	NUAK1	1.08141295
37	IKBKB	1.07218362
38	RPS6KA5	0.98678974
39	CSNK1G2	0.98094441
40	GRK5	0.95836658
41	CSNK1G1	0.95091823
42	TBK1	0.93366508
43	DAPK2	0.92346436
44	WNK4	0.92127149
45	PDK2	0.91368109
46	DAPK3	0.88414703
47	PRKCI	0.87144681
48	CSNK1A1L	0.85925628
49	MAP2K6	0.84592056
50	ILK	0.83755374
51	ADRBK1	0.83379362
52	DYRK2	0.81076604
53	BUB1	0.80788854
54	MAPKAPK5	0.77117256
55	MAP2K7	0.76966541
56	BMPR1B	0.75482436
57	GRK7	0.74614119
58	IRAK3	0.72020829
59	MAPK13	0.70950244
60	CDK8	0.70439501
61	BRAF	0.70267102
62	CAMKK1	0.67842417
63	AURKA	0.66750980
64	MST4	0.64483509
65	CAMK2G	0.58797558
66	PKN1	0.58240014
67	TAOK2	0.57902772
68	IKBKE	0.52837460
69	WNK3	0.52417378
70	LMTK2	0.49514140
71	LRRK2	0.48656114
72	TIE1	0.48425959
73	PAK1	0.48067519
74	NEK1	0.47175072
75	PAK6	0.46704878
76	MAP2K2	0.46687677
77	KIT	0.46236153
78	MAP4K1	0.41584436
79	OXSR1	0.41277125
80	PAK3	0.40832363
81	PTK2B	0.39725005
82	CAMK2A	0.39236260
83	CAMK2D	0.38900710
84	CAMK1	0.38185487
85	CDK19	0.37028598
86	PRKACA	0.34753007
87	PRKCA	0.34354492
88	PRKCQ	0.33765409
89	RAF1	0.33103403
90	GRK6	0.32928473
91	TNK2	0.32749315
92	EPHA2	0.32339943
93	SCYL2	0.31587433
94	CSNK1A1	0.31552611
95	PRKCG	0.30709964
96	CSNK2A1	0.30502512
97	CSNK2A2	0.28881635
98	CCNB1	0.27734222
99	PRKCE	0.27122453
100	MAPK11	0.26834168

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	5.01332397
2	Parkinsons disease_Homo sapiens_hsa05012	4.12656237
3	Proteasome_Homo sapiens_hsa03050	3.78578056
4	Ribosome_Homo sapiens_hsa03010	3.28662525
5	Alzheimers disease_Homo sapiens_hsa05010	2.91932385
6	Huntingtons disease_Homo sapiens_hsa05016	2.85363360
7	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.64824710
8	RNA polymerase_Homo sapiens_hsa03020	2.54679514
9	Cardiac muscle contraction_Homo sapiens_hsa04260	2.25912996
10	Sulfur relay system_Homo sapiens_hsa04122	2.23597930
11	Protein export_Homo sapiens_hsa03060	2.13229679
12	Fatty acid elongation_Homo sapiens_hsa00062	1.95713814
13	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.80011668
14	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.65537247
15	Pyrimidine metabolism_Homo sapiens_hsa00240	1.56616227
16	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.53376552
17	Folate biosynthesis_Homo sapiens_hsa00790	1.47370947
18	Sulfur metabolism_Homo sapiens_hsa00920	1.47173043
19	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.37645843
20	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.32925691
21	Homologous recombination_Homo sapiens_hsa03440	1.25260267
22	Collecting duct acid secretion_Homo sapiens_hsa04966	1.21174984
23	Glutathione metabolism_Homo sapiens_hsa00480	1.19457819
24	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.18542073
25	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.17896250
26	Primary immunodeficiency_Homo sapiens_hsa05340	1.15408693
27	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.14621104
28	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.09961014
29	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.09051766
30	Phototransduction_Homo sapiens_hsa04744	1.08627202
31	Butanoate metabolism_Homo sapiens_hsa00650	1.08172985
32	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.07713464
33	Peroxisome_Homo sapiens_hsa04146	1.07652785
34	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.07172015
35	Purine metabolism_Homo sapiens_hsa00230	1.06394046
36	Asthma_Homo sapiens_hsa05310	1.04709159
37	Base excision repair_Homo sapiens_hsa03410	1.02354938
38	Regulation of autophagy_Homo sapiens_hsa04140	0.96060570
39	Metabolic pathways_Homo sapiens_hsa01100	0.95589240
40	Tryptophan metabolism_Homo sapiens_hsa00380	0.95540751
41	Type I diabetes mellitus_Homo sapiens_hsa04940	0.94079648
42	Nitrogen metabolism_Homo sapiens_hsa00910	0.93782158
43	Rheumatoid arthritis_Homo sapiens_hsa05323	0.90419320
44	Allograft rejection_Homo sapiens_hsa05330	0.90293391
45	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.89151883
46	DNA replication_Homo sapiens_hsa03030	0.87414604
47	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.86133593
48	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.84095005
49	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.81715368
50	Linoleic acid metabolism_Homo sapiens_hsa00591	0.80810836
51	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.80675248
52	Graft-versus-host disease_Homo sapiens_hsa05332	0.79481173
53	Pyruvate metabolism_Homo sapiens_hsa00620	0.77724079
54	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.76734504
55	Chemical carcinogenesis_Homo sapiens_hsa05204	0.76503607
56	Propanoate metabolism_Homo sapiens_hsa00640	0.76337963
57	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.76254136
58	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.75690747
59	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.75058153
60	Tyrosine metabolism_Homo sapiens_hsa00350	0.72409354
61	Mismatch repair_Homo sapiens_hsa03430	0.72186144
62	Caffeine metabolism_Homo sapiens_hsa00232	0.71758349
63	Phenylalanine metabolism_Homo sapiens_hsa00360	0.70590076
64	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.69837862
65	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.69741489
66	Nucleotide excision repair_Homo sapiens_hsa03420	0.69451946
67	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.67755851
68	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.66267701
69	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.65160997
70	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.65044457
71	Arginine and proline metabolism_Homo sapiens_hsa00330	0.64920870
72	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.64246023
73	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.64003129
74	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.62057739
75	One carbon pool by folate_Homo sapiens_hsa00670	0.61479926
76	Antigen processing and presentation_Homo sapiens_hsa04612	0.59211194
77	Carbon metabolism_Homo sapiens_hsa01200	0.58641156
78	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.55959811
79	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.55767013
80	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.55359179
81	Basal transcription factors_Homo sapiens_hsa03022	0.53017896
82	RNA degradation_Homo sapiens_hsa03018	0.52610908
83	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.49927813
84	Fatty acid metabolism_Homo sapiens_hsa01212	0.49028978
85	Vibrio cholerae infection_Homo sapiens_hsa05110	0.46100533
86	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.45936315
87	beta-Alanine metabolism_Homo sapiens_hsa00410	0.44241263
88	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.42739081
89	Fanconi anemia pathway_Homo sapiens_hsa03460	0.42716733
90	Fatty acid degradation_Homo sapiens_hsa00071	0.41530642
91	Lysosome_Homo sapiens_hsa04142	0.40640968
92	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.40157592
93	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.40126981
94	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.39451302
95	Mineral absorption_Homo sapiens_hsa04978	0.38717563
96	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.37936637
97	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.37796186
98	Galactose metabolism_Homo sapiens_hsa00052	0.37343870
99	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.35992246
100	Olfactory transduction_Homo sapiens_hsa04740	0.34560522

C19ORF70

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)

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