ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	6.16382285
2	protein complex biogenesis (GO:0070271)	5.57790578
3	energy coupled proton transport, down electrochemical gradient (GO:0015985)	5.54950089
4	ATP synthesis coupled proton transport (GO:0015986)	5.54950089
5	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	5.52884259
6	chaperone-mediated protein transport (GO:0072321)	5.44992288
7	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	5.32418953
8	mitochondrial respiratory chain complex I assembly (GO:0032981)	5.32418953
9	NADH dehydrogenase complex assembly (GO:0010257)	5.32418953
10	mitochondrial respiratory chain complex assembly (GO:0033108)	5.18406025
11	respiratory electron transport chain (GO:0022904)	5.00642462
12	electron transport chain (GO:0022900)	4.93935658
13	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.19836254
14	peptidyl-histidine modification (GO:0018202)	3.96403344
15	DNA deamination (GO:0045006)	3.95420284
16	cytochrome complex assembly (GO:0017004)	3.91915968
17	regulation of mitochondrial translation (GO:0070129)	3.90456103
18	respiratory chain complex IV assembly (GO:0008535)	3.89284739
19	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	3.77316873
20	maturation of 5.8S rRNA (GO:0000460)	3.73296850
21	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.71896628
22	iron-sulfur cluster assembly (GO:0016226)	3.69260781
23	metallo-sulfur cluster assembly (GO:0031163)	3.69260781
24	protein neddylation (GO:0045116)	3.61165307
25	ATP biosynthetic process (GO:0006754)	3.60339991
26	viral transcription (GO:0019083)	3.56350174
27	translational termination (GO:0006415)	3.54924569
28	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.52427506
29	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.50712749
30	hydrogen ion transmembrane transport (GO:1902600)	3.48764820
31	pseudouridine synthesis (GO:0001522)	3.40764822
32	termination of RNA polymerase III transcription (GO:0006386)	3.38847695
33	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.38847695
34	ribosomal small subunit biogenesis (GO:0042274)	3.35902407
35	protein-cofactor linkage (GO:0018065)	3.34608342
36	water-soluble vitamin biosynthetic process (GO:0042364)	3.33397588
37	behavioral response to nicotine (GO:0035095)	3.31130302
38	protein targeting to mitochondrion (GO:0006626)	3.28679093
39	proton transport (GO:0015992)	3.25102776
40	proteasome assembly (GO:0043248)	3.21273634
41	heme transport (GO:0015886)	3.20513646
42	GTP biosynthetic process (GO:0006183)	3.20226482
43	hydrogen transport (GO:0006818)	3.18898062
44	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	3.18044055
45	protein K6-linked ubiquitination (GO:0085020)	3.13637759
46	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.13272267
47	cotranslational protein targeting to membrane (GO:0006613)	3.13075423
48	protein targeting to ER (GO:0045047)	3.11746916
49	translational elongation (GO:0006414)	3.11497816
50	base-excision repair, AP site formation (GO:0006285)	3.08855832
51	regulation of appetite (GO:0032098)	3.08649726
52	establishment of protein localization to mitochondrion (GO:0072655)	3.06704905
53	ribonucleoside triphosphate biosynthetic process (GO:0009201)	3.06284057
54	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.06209359
55	pyrimidine nucleotide catabolic process (GO:0006244)	3.02468992
56	protein localization to endoplasmic reticulum (GO:0070972)	3.02172508
57	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.01586834
58	mitochondrial transport (GO:0006839)	2.97485138
59	establishment of protein localization to endoplasmic reticulum (GO:0072599)	2.96857275
60	ribosomal small subunit assembly (GO:0000028)	2.96375533
61	protein localization to mitochondrion (GO:0070585)	2.95656373
62	organic cation transport (GO:0015695)	2.91539499
63	oxidative phosphorylation (GO:0006119)	2.90506846
64	cellular ketone body metabolic process (GO:0046950)	2.89151786
65	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.85746450
66	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.85746450
67	ubiquinone biosynthetic process (GO:0006744)	2.85214687
68	intracellular protein transmembrane import (GO:0044743)	2.82256050
69	deoxyribonucleotide catabolic process (GO:0009264)	2.79801228
70	response to pheromone (GO:0019236)	2.78778701
71	UTP metabolic process (GO:0046051)	2.78567579
72	nucleoside triphosphate biosynthetic process (GO:0009142)	2.77501218
73	glycerophospholipid catabolic process (GO:0046475)	2.77432912
74	regulation of hexokinase activity (GO:1903299)	2.77424278
75	regulation of glucokinase activity (GO:0033131)	2.77424278
76	maturation of SSU-rRNA (GO:0030490)	2.74932394
77	nucleotide transmembrane transport (GO:1901679)	2.74298727
78	cellular component biogenesis (GO:0044085)	2.70679958
79	protein K11-linked deubiquitination (GO:0035871)	2.70184730
80	aerobic respiration (GO:0009060)	2.69785865
81	translation (GO:0006412)	2.69591550
82	inner mitochondrial membrane organization (GO:0007007)	2.68921324
83	UTP biosynthetic process (GO:0006228)	2.66216666
84	purine nucleotide salvage (GO:0032261)	2.65267450
85	negative regulation of appetite (GO:0032099)	2.64762568
86	negative regulation of response to food (GO:0032096)	2.64762568
87	cellular protein complex disassembly (GO:0043624)	2.62908465
88	male meiosis I (GO:0007141)	2.62764578
89	L-methionine salvage (GO:0071267)	2.60201026
90	L-methionine biosynthetic process (GO:0071265)	2.60201026
91	amino acid salvage (GO:0043102)	2.60201026
92	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.58764289
93	piRNA metabolic process (GO:0034587)	2.58028304
94	translational initiation (GO:0006413)	2.57494938
95	ketone body metabolic process (GO:1902224)	2.56443430
96	viral life cycle (GO:0019058)	2.55672428
97	aggressive behavior (GO:0002118)	2.54632420
98	mannosylation (GO:0097502)	2.54071883
99	deoxyribose phosphate catabolic process (GO:0046386)	2.53397479
100	ubiquinone metabolic process (GO:0006743)	2.52277619

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.36328622
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.75730418
3	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.52700838
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.26675737
5	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.24287456
6	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.20642940
7	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.03634071
8	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.95900503
9	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.92223265
10	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.87045533
11	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.55006737
12	EZH2_22144423_ChIP-Seq_EOC_Human	2.52020701
13	ZNF274_21170338_ChIP-Seq_K562_Hela	2.51105144
14	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.41617889
15	VDR_23849224_ChIP-Seq_CD4+_Human	2.36737549
16	IGF1R_20145208_ChIP-Seq_DFB_Human	2.18876524
17	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.08831394
18	VDR_22108803_ChIP-Seq_LS180_Human	2.00427029
19	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.97963541
20	FOXP3_21729870_ChIP-Seq_TREG_Human	1.87830390
21	GBX2_23144817_ChIP-Seq_PC3_Human	1.86919755
22	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.86299384
23	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.85826544
24	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.85171206
25	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.84084877
26	MYC_18940864_ChIP-ChIP_HL60_Human	1.76517748
27	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.75915580
28	* TP53_22573176_ChIP-Seq_HFKS_Human	1.73804952
29	DCP1A_22483619_ChIP-Seq_HELA_Human	1.70005245
30	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.69136196
31	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.60991249
32	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.60533321
33	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.58980996
34	GABP_19822575_ChIP-Seq_HepG2_Human	1.56192210
35	TTF2_22483619_ChIP-Seq_HELA_Human	1.49214522
36	EWS_26573619_Chip-Seq_HEK293_Human	1.47086686
37	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.45651228
38	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.45267871
39	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.45194701
40	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.43741171
41	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.42889363
42	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.36063692
43	FUS_26573619_Chip-Seq_HEK293_Human	1.35967120
44	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.32539215
45	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.30068059
46	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.28388943
47	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.26291073
48	ELK1_19687146_ChIP-ChIP_HELA_Human	1.25885386
49	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.23371174
50	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.22888549
51	ER_23166858_ChIP-Seq_MCF-7_Human	1.19350488
52	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.18124597
53	TAF15_26573619_Chip-Seq_HEK293_Human	1.17172955
54	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.16042415
55	XRN2_22483619_ChIP-Seq_HELA_Human	1.14758336
56	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.13868959
57	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.13466306
58	* NCOR_22424771_ChIP-Seq_293T_Human	1.12705254
59	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.12653372
60	AR_20517297_ChIP-Seq_VCAP_Human	1.11861507
61	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.11539780
62	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.10803732
63	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.10803732
64	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.07098482
65	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.06959771
66	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.06635957
67	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.06342238
68	HTT_18923047_ChIP-ChIP_STHdh_Human	1.05914067
69	KDM5A_27292631_Chip-Seq_BREAST_Human	1.05881718
70	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.05525242
71	ERA_21632823_ChIP-Seq_H3396_Human	1.05353678
72	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.04938928
73	ERG_20517297_ChIP-Seq_VCAP_Human	1.04620970
74	NANOG_19829295_ChIP-Seq_ESCs_Human	1.03676891
75	SOX2_19829295_ChIP-Seq_ESCs_Human	1.03676891
76	MYC_19829295_ChIP-Seq_ESCs_Human	0.99503924
77	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.99337168
78	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	0.98501620
79	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.98357692
80	CBP_20019798_ChIP-Seq_JUKART_Human	0.98163507
81	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.98163507
82	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.98137879
83	IRF1_19129219_ChIP-ChIP_H3396_Human	0.97104884
84	TAF2_19829295_ChIP-Seq_ESCs_Human	0.97103122
85	REST_21632747_ChIP-Seq_MESCs_Mouse	0.97026732
86	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.96596910
87	NANOG_20526341_ChIP-Seq_ESCs_Human	0.95981792
88	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.95575726
89	RNF2_27304074_Chip-Seq_NSC_Mouse	0.94673633
90	P300_19829295_ChIP-Seq_ESCs_Human	0.94199706
91	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.93424204
92	ELF1_17652178_ChIP-ChIP_JURKAT_Human	0.93333178
93	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.92633631
94	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.92262558
95	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.87872739
96	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.85874231
97	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	0.85650914
98	BP1_19119308_ChIP-ChIP_Hs578T_Human	0.84862471
99	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.84479106
100	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.82182235

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002837_dystrophic_cardiac_calcinosis	3.35635529
2	MP0004145_abnormal_muscle_electrophysio	2.87569371
3	MP0003646_muscle_fatigue	2.76114150
4	MP0003806_abnormal_nucleotide_metabolis	2.72894663
5	MP0005645_abnormal_hypothalamus_physiol	2.53622161
6	MP0006036_abnormal_mitochondrial_physio	2.49584655
7	MP0005646_abnormal_pituitary_gland	2.24346474
8	MP0009046_muscle_twitch	2.13776756
9	MP0008877_abnormal_DNA_methylation	1.99251400
10	MP0002160_abnormal_reproductive_system	1.99056804
11	MP0001984_abnormal_olfaction	1.92593841
12	MP0000372_irregular_coat_pigmentation	1.91130649
13	MP0004142_abnormal_muscle_tone	1.87938473
14	MP0003195_calcinosis	1.86057618
15	MP0001905_abnormal_dopamine_level	1.84821116
16	MP0001968_abnormal_touch/_nociception	1.80584453
17	MP0002163_abnormal_gland_morphology	1.78773947
18	MP0003718_maternal_effect	1.77864565
19	MP0003011_delayed_dark_adaptation	1.77643320
20	MP0006276_abnormal_autonomic_nervous	1.77216871
21	MP0009745_abnormal_behavioral_response	1.76405168
22	MP0001529_abnormal_vocalization	1.74911496
23	MP0005084_abnormal_gallbladder_morpholo	1.74667634
24	MP0002876_abnormal_thyroid_physiology	1.73891543
25	MP0008875_abnormal_xenobiotic_pharmacok	1.73385801
26	MP0005551_abnormal_eye_electrophysiolog	1.72750843
27	MP0004147_increased_porphyrin_level	1.61424671
28	MP0005389_reproductive_system_phenotype	1.60287012
29	MP0002638_abnormal_pupillary_reflex	1.59879572
30	MP0006072_abnormal_retinal_apoptosis	1.59342893
31	MP0002822_catalepsy	1.57298395
32	MP0002234_abnormal_pharynx_morphology	1.54726098
33	MP0002736_abnormal_nociception_after	1.50801240
34	MP0008789_abnormal_olfactory_epithelium	1.49587186
35	MP0006292_abnormal_olfactory_placode	1.48571033
36	MP0002272_abnormal_nervous_system	1.46658098
37	MP0002735_abnormal_chemical_nociception	1.42314351
38	MP0009379_abnormal_foot_pigmentation	1.41138040
39	MP0004043_abnormal_pH_regulation	1.38628405
40	MP0003787_abnormal_imprinting	1.38360102
41	MP0002064_seizures	1.37365696
42	MP0008058_abnormal_DNA_repair	1.36981290
43	MP0002653_abnormal_ependyma_morphology	1.36532723
44	MP0005332_abnormal_amino_acid	1.35838925
45	MP0001986_abnormal_taste_sensitivity	1.34974342
46	MP0003880_abnormal_central_pattern	1.34280413
47	MP0008995_early_reproductive_senescence	1.34151932
48	MP0005379_endocrine/exocrine_gland_phen	1.31192726
49	MP0000631_abnormal_neuroendocrine_gland	1.28010332
50	MP0001764_abnormal_homeostasis	1.27132187
51	MP0002102_abnormal_ear_morphology	1.26418079
52	MP0005253_abnormal_eye_physiology	1.25944981
53	MP0003186_abnormal_redox_activity	1.24162960
54	MP0005410_abnormal_fertilization	1.24018958
55	MP0002938_white_spotting	1.20275132
56	MP0001919_abnormal_reproductive_system	1.17635223
57	MP0005266_abnormal_metabolism	1.16810285
58	MP0003315_abnormal_perineum_morphology	1.15509753
59	MP0002572_abnormal_emotion/affect_behav	1.13730814
60	MP0003137_abnormal_impulse_conducting	1.08959817
61	MP0005394_taste/olfaction_phenotype	1.08451110
62	MP0005499_abnormal_olfactory_system	1.08451110
63	MP0005187_abnormal_penis_morphology	1.08182505
64	MP0008872_abnormal_physiological_respon	1.07614361
65	MP0006035_abnormal_mitochondrial_morpho	1.06168443
66	MP0000749_muscle_degeneration	1.05658085
67	MP0005386_behavior/neurological_phenoty	1.04087424
68	MP0004924_abnormal_behavior	1.04087424
69	MP0002733_abnormal_thermal_nociception	1.01305508
70	MP0002693_abnormal_pancreas_physiology	0.98879502
71	MP0005075_abnormal_melanosome_morpholog	0.98140032
72	MP0001970_abnormal_pain_threshold	0.97237961
73	MP0004215_abnormal_myocardial_fiber	0.96420962
74	MP0001944_abnormal_pancreas_morphology	0.94848634
75	MP0001486_abnormal_startle_reflex	0.92473877
76	MP0009697_abnormal_copulation	0.90525638
77	MP0002210_abnormal_sex_determination	0.89545020
78	MP0002734_abnormal_mechanical_nocicepti	0.87974502
79	MP0001929_abnormal_gametogenesis	0.86791760
80	MP0001485_abnormal_pinna_reflex	0.86009266
81	MP0003786_premature_aging	0.85604719
82	MP0002067_abnormal_sensory_capabilities	0.85372670
83	MP0002277_abnormal_respiratory_mucosa	0.85224765
84	MP0003635_abnormal_synaptic_transmissio	0.84852140
85	MP0004885_abnormal_endolymph	0.84197342
86	MP0003698_abnormal_male_reproductive	0.83999752
87	MP0005636_abnormal_mineral_homeostasis	0.82486103
88	MP0005647_abnormal_sex_gland	0.82235570
89	MP0004036_abnormal_muscle_relaxation	0.78478968
90	MP0001440_abnormal_grooming_behavior	0.78459728
91	MP0004085_abnormal_heartbeat	0.78175635
92	MP0002557_abnormal_social/conspecific_i	0.78121856
93	MP0001873_stomach_inflammation	0.77725748
94	MP0000653_abnormal_sex_gland	0.77029251
95	MP0010386_abnormal_urinary_bladder	0.75457631
96	MP0002269_muscular_atrophy	0.74409080
97	MP0008961_abnormal_basal_metabolism	0.74087411
98	MP0003283_abnormal_digestive_organ	0.73383853
99	MP0001145_abnormal_male_reproductive	0.72596626
100	MP0002106_abnormal_muscle_physiology	0.71892835

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	5.16029468
2	Mitochondrial inheritance (HP:0001427)	4.86792051
3	Abnormal mitochondria in muscle tissue (HP:0008316)	4.86453427
4	Acute encephalopathy (HP:0006846)	4.53198763
5	Progressive macrocephaly (HP:0004481)	4.47565546
6	Increased CSF lactate (HP:0002490)	4.33431594
7	Hepatic necrosis (HP:0002605)	4.28324689
8	Hepatocellular necrosis (HP:0001404)	4.26452057
9	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.86705335
10	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.86705335
11	3-Methylglutaconic aciduria (HP:0003535)	3.59711410
12	Lipid accumulation in hepatocytes (HP:0006561)	3.54276272
13	Increased hepatocellular lipid droplets (HP:0006565)	3.48072745
14	Increased intramyocellular lipid droplets (HP:0012240)	3.42761174
15	Renal Fanconi syndrome (HP:0001994)	3.27831020
16	Lactic acidosis (HP:0003128)	3.15575558
17	Cerebral edema (HP:0002181)	3.14154840
18	Increased muscle lipid content (HP:0009058)	3.13006960
19	Increased serum lactate (HP:0002151)	2.86800409
20	Respiratory failure (HP:0002878)	2.74214044
21	Pancreatic cysts (HP:0001737)	2.72483492
22	Exercise intolerance (HP:0003546)	2.67575948
23	Abnormal number of erythroid precursors (HP:0012131)	2.63149055
24	Congenital stationary night blindness (HP:0007642)	2.61922083
25	Abnormality of midbrain morphology (HP:0002418)	2.57732490
26	Molar tooth sign on MRI (HP:0002419)	2.57732490
27	Large for gestational age (HP:0001520)	2.57193277
28	Pancreatic fibrosis (HP:0100732)	2.54742205
29	True hermaphroditism (HP:0010459)	2.48449845
30	Optic disc pallor (HP:0000543)	2.46615448
31	Ketoacidosis (HP:0001993)	2.42701506
32	Hyperglycinemia (HP:0002154)	2.41103192
33	Methylmalonic acidemia (HP:0002912)	2.40608578
34	Lethargy (HP:0001254)	2.38696946
35	Muscle fiber inclusion bodies (HP:0100299)	2.38666730
36	Glycosuria (HP:0003076)	2.36495933
37	Abnormality of urine glucose concentration (HP:0011016)	2.36495933
38	Dicarboxylic aciduria (HP:0003215)	2.36393663
39	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.36393663
40	Ketosis (HP:0001946)	2.34708109
41	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.34692736
42	Abnormality of alanine metabolism (HP:0010916)	2.34692736
43	Hyperalaninemia (HP:0003348)	2.34692736
44	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.34574711
45	Hypoplasia of the uterus (HP:0000013)	2.29717156
46	Exertional dyspnea (HP:0002875)	2.27765773
47	Type I transferrin isoform profile (HP:0003642)	2.27280883
48	Abnormality of cells of the erythroid lineage (HP:0012130)	2.25788120
49	Methylmalonic aciduria (HP:0012120)	2.23870964
50	Aplasia/hypoplasia of the uterus (HP:0008684)	2.22354605
51	Generalized aminoaciduria (HP:0002909)	2.21387450
52	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	2.21142001
53	Nemaline bodies (HP:0003798)	2.17450287
54	Renal cortical cysts (HP:0000803)	2.16286288
55	Hypoglycemic coma (HP:0001325)	2.16242310
56	Medial flaring of the eyebrow (HP:0010747)	2.14704277
57	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.14076713
58	CNS demyelination (HP:0007305)	2.12292167
59	Abnormal protein glycosylation (HP:0012346)	2.10208949
60	Abnormal glycosylation (HP:0012345)	2.10208949
61	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.10208949
62	Abnormal protein N-linked glycosylation (HP:0012347)	2.10208949
63	Abnormal rod and cone electroretinograms (HP:0008323)	2.08483147
64	Abnormality of renal resorption (HP:0011038)	2.08120538
65	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.05726809
66	Abolished electroretinogram (ERG) (HP:0000550)	2.04379158
67	Abnormality of the renal cortex (HP:0011035)	2.01729602
68	Nephronophthisis (HP:0000090)	2.01460491
69	Macrocytic anemia (HP:0001972)	1.99965335
70	Leukodystrophy (HP:0002415)	1.99790248
71	Muscle hypertrophy of the lower extremities (HP:0008968)	1.95708728
72	Hypothermia (HP:0002045)	1.94090081
73	Congenital, generalized hypertrichosis (HP:0004540)	1.93455177
74	Sclerocornea (HP:0000647)	1.92864883
75	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.91958459
76	Abnormal drinking behavior (HP:0030082)	1.91883271
77	Polydipsia (HP:0001959)	1.91883271
78	Male pseudohermaphroditism (HP:0000037)	1.90248448
79	Aplastic anemia (HP:0001915)	1.89561701
80	Calf muscle hypertrophy (HP:0008981)	1.86665682
81	Limb dystonia (HP:0002451)	1.81959705
82	Progressive microcephaly (HP:0000253)	1.81796295
83	Gait imbalance (HP:0002141)	1.81524661
84	Unsteady gait (HP:0002317)	1.81391871
85	Hyperglycinuria (HP:0003108)	1.81021911
86	Emotional lability (HP:0000712)	1.79806043
87	Attenuation of retinal blood vessels (HP:0007843)	1.77688035
88	Congenital primary aphakia (HP:0007707)	1.74933702
89	Reduced antithrombin III activity (HP:0001976)	1.69029550
90	Hyperinsulinemic hypoglycemia (HP:0000825)	1.68362242
91	X-linked dominant inheritance (HP:0001423)	1.67045782
92	Rectovaginal fistula (HP:0000143)	1.66226943
93	Rectal fistula (HP:0100590)	1.66226943
94	Exercise-induced myalgia (HP:0003738)	1.65857896
95	Absent thumb (HP:0009777)	1.65663522
96	Abnormality of serine family amino acid metabolism (HP:0010894)	1.64822181
97	Abnormality of glycine metabolism (HP:0010895)	1.64822181
98	Testicular atrophy (HP:0000029)	1.64763006
99	Gliosis (HP:0002171)	1.64311666
100	Exercise-induced muscle cramps (HP:0003710)	1.61761161

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.54660513
2	ZAK	3.42519648
3	PINK1	3.38436297
4	TLK1	3.13898651
5	OBSCN	3.10690764
6	PHKG2	2.62452363
7	PHKG1	2.62452363
8	WNK3	2.44748946
9	BCKDK	2.41105748
10	MAP4K2	2.31420162
11	STK16	2.30270265
12	ADRBK2	2.30258215
13	VRK2	2.27344027
14	GRK1	2.11407801
15	CDK19	2.06941161
16	NME2	1.86154117
17	BMPR1B	1.63391599
18	CSNK1G3	1.60259475
19	VRK1	1.49007033
20	TRIM28	1.44000328
21	NUAK1	1.36750079
22	CSNK1G1	1.36666427
23	KDR	1.34624382
24	CCNB1	1.32983246
25	CSNK1G2	1.31510582
26	TAOK3	1.31050260
27	LIMK1	1.23737683
28	PIM2	1.21245637
29	NME1	1.20445582
30	DYRK2	1.20298672
31	RPS6KA5	1.19841568
32	CSNK1A1L	1.18215655
33	DAPK2	1.16975315
34	TESK2	1.16925107
35	NTRK3	1.15972619
36	TNK2	1.14435188
37	MAPK13	1.11756874
38	MAP2K7	1.10022165
39	OXSR1	1.06035149
40	TXK	1.04264085
41	WNK4	1.00670817
42	MUSK	0.93140761
43	MAPKAPK3	0.92154431
44	EIF2AK3	0.90495596
45	MAP3K11	0.89378626
46	BUB1	0.89308881
47	INSRR	0.87519713
48	ABL2	0.84660884
49	MAPKAPK5	0.82887138
50	CASK	0.77715041
51	PIK3CG	0.71205183
52	PLK1	0.67393269
53	CAMK2A	0.67168710
54	CSNK1A1	0.66979455
55	TIE1	0.65588609
56	PRKCG	0.65375871
57	PKN1	0.62204609
58	ARAF	0.61442930
59	PRKACA	0.60994508
60	DAPK1	0.59891660
61	CDC7	0.58502394
62	SCYL2	0.58492487
63	AURKA	0.55047225
64	GRK5	0.53942830
65	ADRBK1	0.52638180
66	MARK1	0.51896732
67	IKBKB	0.51636278
68	MAP3K4	0.51630434
69	CSNK2A1	0.50529683
70	PDK2	0.49657460
71	CSNK2A2	0.48906238
72	PLK4	0.48531438
73	ATR	0.48522125
74	CAMK1	0.47507679
75	DYRK3	0.47142944
76	CHEK2	0.46963347
77	MAP2K6	0.46125942
78	NEK1	0.45969113
79	STK39	0.45579348
80	PRKG1	0.44832264
81	PRKCE	0.43575899
82	CAMK2D	0.42468822
83	PIM1	0.41375013
84	PAK3	0.41271209
85	PIK3CA	0.40326467
86	TEC	0.40174218
87	KIT	0.39706030
88	PRKCA	0.39392972
89	CAMK2G	0.36898335
90	PRKD2	0.36205801
91	TAF1	0.36190033
92	STK11	0.35638449
93	PRKCI	0.34575259
94	RPS6KA4	0.34060498
95	ERBB3	0.33331720
96	EIF2AK1	0.32312326
97	CDK3	0.31877214
98	FGFR2	0.31668821
99	TESK1	0.31169937
100	PLK3	0.29399267

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	4.67699024
2	Parkinsons disease_Homo sapiens_hsa05012	3.87190123
3	Ribosome_Homo sapiens_hsa03010	3.78754813
4	Alzheimers disease_Homo sapiens_hsa05010	2.65823057
5	Huntingtons disease_Homo sapiens_hsa05016	2.56645587
6	RNA polymerase_Homo sapiens_hsa03020	2.42131916
7	Cardiac muscle contraction_Homo sapiens_hsa04260	2.42011612
8	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.39085973
9	Proteasome_Homo sapiens_hsa03050	2.33382368
10	Protein export_Homo sapiens_hsa03060	2.23429677
11	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.10166854
12	Sulfur relay system_Homo sapiens_hsa04122	1.89064067
13	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.88506591
14	Phototransduction_Homo sapiens_hsa04744	1.83945254
15	Folate biosynthesis_Homo sapiens_hsa00790	1.77363110
16	Homologous recombination_Homo sapiens_hsa03440	1.74004348
17	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.72753194
18	One carbon pool by folate_Homo sapiens_hsa00670	1.65020368
19	Base excision repair_Homo sapiens_hsa03410	1.63862907
20	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.59277932
21	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.55744861
22	Butanoate metabolism_Homo sapiens_hsa00650	1.53812745
23	Peroxisome_Homo sapiens_hsa04146	1.51840854
24	Pyrimidine metabolism_Homo sapiens_hsa00240	1.48560347
25	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.39423327
26	Nitrogen metabolism_Homo sapiens_hsa00910	1.35588077
27	RNA degradation_Homo sapiens_hsa03018	1.33996126
28	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.33774987
29	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.32808224
30	Linoleic acid metabolism_Homo sapiens_hsa00591	1.31560592
31	Selenocompound metabolism_Homo sapiens_hsa00450	1.28994163
32	Propanoate metabolism_Homo sapiens_hsa00640	1.26543358
33	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.25354244
34	Purine metabolism_Homo sapiens_hsa00230	1.21368090
35	Nicotine addiction_Homo sapiens_hsa05033	1.20339483
36	Fanconi anemia pathway_Homo sapiens_hsa03460	1.16788216
37	DNA replication_Homo sapiens_hsa03030	1.12105704
38	Basal transcription factors_Homo sapiens_hsa03022	1.08037158
39	Tryptophan metabolism_Homo sapiens_hsa00380	1.06425644
40	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.06374029
41	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.02472143
42	Collecting duct acid secretion_Homo sapiens_hsa04966	1.01597159
43	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.01290633
44	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.01122414
45	Metabolic pathways_Homo sapiens_hsa01100	0.96549673
46	Nucleotide excision repair_Homo sapiens_hsa03420	0.95327511
47	Fatty acid elongation_Homo sapiens_hsa00062	0.94602444
48	Ether lipid metabolism_Homo sapiens_hsa00565	0.93496019
49	Caffeine metabolism_Homo sapiens_hsa00232	0.89381621
50	Olfactory transduction_Homo sapiens_hsa04740	0.85200404
51	Pyruvate metabolism_Homo sapiens_hsa00620	0.83286003
52	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.81325972
53	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.79529177
54	Sulfur metabolism_Homo sapiens_hsa00920	0.75941771
55	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.75407452
56	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.75372580
57	Regulation of autophagy_Homo sapiens_hsa04140	0.75204685
58	Mismatch repair_Homo sapiens_hsa03430	0.73673682
59	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.73421133
60	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.70424759
61	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.67813925
62	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.66430144
63	Fatty acid metabolism_Homo sapiens_hsa01212	0.64165389
64	RNA transport_Homo sapiens_hsa03013	0.61775225
65	Insulin secretion_Homo sapiens_hsa04911	0.55701058
66	GABAergic synapse_Homo sapiens_hsa04727	0.55328758
67	Glutathione metabolism_Homo sapiens_hsa00480	0.55259322
68	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.55105529
69	Spliceosome_Homo sapiens_hsa03040	0.53896085
70	Arginine and proline metabolism_Homo sapiens_hsa00330	0.53774166
71	Fatty acid degradation_Homo sapiens_hsa00071	0.52979384
72	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.52887653
73	ABC transporters_Homo sapiens_hsa02010	0.52027894
74	Morphine addiction_Homo sapiens_hsa05032	0.51033416
75	Primary immunodeficiency_Homo sapiens_hsa05340	0.50935975
76	Circadian rhythm_Homo sapiens_hsa04710	0.50192507
77	Chemical carcinogenesis_Homo sapiens_hsa05204	0.49451604
78	Calcium signaling pathway_Homo sapiens_hsa04020	0.48330807
79	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.47079138
80	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.46979729
81	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.41467106
82	Taste transduction_Homo sapiens_hsa04742	0.41315275
83	Retinol metabolism_Homo sapiens_hsa00830	0.41306553
84	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.39757573
85	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.37868926
86	Serotonergic synapse_Homo sapiens_hsa04726	0.37823621
87	Asthma_Homo sapiens_hsa05310	0.37059688
88	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.37013056
89	beta-Alanine metabolism_Homo sapiens_hsa00410	0.36741271
90	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.36580770
91	Tyrosine metabolism_Homo sapiens_hsa00350	0.36270808
92	Non-homologous end-joining_Homo sapiens_hsa03450	0.36214765
93	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.32991249
94	Type I diabetes mellitus_Homo sapiens_hsa04940	0.31935148
95	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.31322726
96	Salivary secretion_Homo sapiens_hsa04970	0.31067719
97	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.30736390
98	Mineral absorption_Homo sapiens_hsa04978	0.29842991
99	Circadian entrainment_Homo sapiens_hsa04713	0.28347375
100	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.27906001

C15ORF61

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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