ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	5.62918859
2	ATP synthesis coupled proton transport (GO:0015986)	5.18551935
3	energy coupled proton transport, down electrochemical gradient (GO:0015985)	5.18551935
4	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	5.18147663
5	protein complex biogenesis (GO:0070271)	4.95538245
6	respiratory electron transport chain (GO:0022904)	4.58890313
7	electron transport chain (GO:0022900)	4.56276584
8	mitochondrial respiratory chain complex assembly (GO:0033108)	4.53184036
9	respiratory chain complex IV assembly (GO:0008535)	4.45005334
10	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.29025770
11	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.29025770
12	NADH dehydrogenase complex assembly (GO:0010257)	4.29025770
13	water-soluble vitamin biosynthetic process (GO:0042364)	4.18278911
14	cytochrome complex assembly (GO:0017004)	4.13277198
15	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.94296537
16	epithelial cilium movement (GO:0003351)	3.88877776
17	behavioral response to nicotine (GO:0035095)	3.77619487
18	chaperone-mediated protein transport (GO:0072321)	3.70952356
19	protein neddylation (GO:0045116)	3.57783022
20	hydrogen ion transmembrane transport (GO:1902600)	3.55754082
21	nonmotile primary cilium assembly (GO:0035058)	3.54756690
22	regulation of hexokinase activity (GO:1903299)	3.52483666
23	regulation of glucokinase activity (GO:0033131)	3.52483666
24	regulation of cilium movement (GO:0003352)	3.52349041
25	response to pheromone (GO:0019236)	3.45764883
26	platelet dense granule organization (GO:0060155)	3.45353576
27	cellular ketone body metabolic process (GO:0046950)	3.40929702
28	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.32741590
29	axoneme assembly (GO:0035082)	3.32557326
30	proton transport (GO:0015992)	3.31593414
31	protein polyglutamylation (GO:0018095)	3.28601314
32	DNA deamination (GO:0045006)	3.28233685
33	hydrogen transport (GO:0006818)	3.27427513
34	intraciliary transport (GO:0042073)	3.15584906
35	cilium movement (GO:0003341)	3.14595976
36	ATP biosynthetic process (GO:0006754)	3.10408022
37	ketone body metabolic process (GO:1902224)	3.04948790
38	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.99841552
39	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.96195567
40	mannosylation (GO:0097502)	2.93004837
41	regulation of mitochondrial translation (GO:0070129)	2.90287411
42	proteasome assembly (GO:0043248)	2.89112621
43	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.81173479
44	termination of RNA polymerase III transcription (GO:0006386)	2.81173479
45	protein-cofactor linkage (GO:0018065)	2.75493413
46	aldehyde catabolic process (GO:0046185)	2.73633594
47	preassembly of GPI anchor in ER membrane (GO:0016254)	2.72413007
48	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.71722454
49	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.69365738
50	cilium morphogenesis (GO:0060271)	2.63143794
51	cilium organization (GO:0044782)	2.62754305
52	protein localization to cilium (GO:0061512)	2.59149672
53	intracellular protein transmembrane import (GO:0044743)	2.58012735
54	dopamine transport (GO:0015872)	2.55604481
55	negative regulation of response to food (GO:0032096)	2.55330712
56	negative regulation of appetite (GO:0032099)	2.55330712
57	C-terminal protein lipidation (GO:0006501)	2.54105812
58	cilium assembly (GO:0042384)	2.53443771
59	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.52965440
60	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.52965440
61	axonemal dynein complex assembly (GO:0070286)	2.52739321
62	regulation of microtubule-based movement (GO:0060632)	2.52621994
63	GTP biosynthetic process (GO:0006183)	2.51189460
64	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.50389279
65	glycerophospholipid catabolic process (GO:0046475)	2.49127404
66	indolalkylamine metabolic process (GO:0006586)	2.48127203
67	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.47513094
68	signal peptide processing (GO:0006465)	2.46529640
69	ATP hydrolysis coupled proton transport (GO:0015991)	2.45714984
70	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	2.45714984
71	GPI anchor metabolic process (GO:0006505)	2.44869809
72	organelle disassembly (GO:1903008)	2.44267637
73	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.41554635
74	retinal cone cell development (GO:0046549)	2.40651820
75	C-terminal protein amino acid modification (GO:0018410)	2.38123712
76	branched-chain amino acid catabolic process (GO:0009083)	2.37530018
77	sperm motility (GO:0030317)	2.37370791
78	inner mitochondrial membrane organization (GO:0007007)	2.37291592
79	anterograde synaptic vesicle transport (GO:0048490)	2.36403704
80	establishment of protein localization to mitochondrion (GO:0072655)	2.36119757
81	cullin deneddylation (GO:0010388)	2.35918942
82	GPI anchor biosynthetic process (GO:0006506)	2.32903410
83	protein targeting to mitochondrion (GO:0006626)	2.32044774
84	protein deneddylation (GO:0000338)	2.31758807
85	sequestering of actin monomers (GO:0042989)	2.31106147
86	protein K6-linked ubiquitination (GO:0085020)	2.30546123
87	photoreceptor cell maintenance (GO:0045494)	2.29255127
88	nucleoside triphosphate biosynthetic process (GO:0009142)	2.28270283
89	spinal cord motor neuron differentiation (GO:0021522)	2.28002861
90	ubiquinone biosynthetic process (GO:0006744)	2.27671654
91	pseudouridine synthesis (GO:0001522)	2.26244425
92	protein localization to mitochondrion (GO:0070585)	2.24899638
93	tryptophan catabolic process (GO:0006569)	2.23229386
94	indole-containing compound catabolic process (GO:0042436)	2.23229386
95	indolalkylamine catabolic process (GO:0046218)	2.23229386
96	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.23009005
97	aromatic amino acid family catabolic process (GO:0009074)	2.22493864
98	retinal ganglion cell axon guidance (GO:0031290)	2.22451782
99	peptidyl-histidine modification (GO:0018202)	2.22169548
100	ubiquinone metabolic process (GO:0006743)	2.22060388

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.24834784
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.08097275
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.06140763
4	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.75112748
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.73747818
6	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.48446077
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.45880643
8	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.36628580
9	GBX2_23144817_ChIP-Seq_PC3_Human	2.35377743
10	VDR_22108803_ChIP-Seq_LS180_Human	2.29949687
11	FUS_26573619_Chip-Seq_HEK293_Human	2.20587720
12	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.19867451
13	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.19062403
14	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.14887506
15	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.09949704
16	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.08713492
17	EZH2_22144423_ChIP-Seq_EOC_Human	2.08630253
18	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.07099351
19	TAF15_26573619_Chip-Seq_HEK293_Human	2.05111016
20	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.95614753
21	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.93582209
22	EWS_26573619_Chip-Seq_HEK293_Human	1.92945094
23	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.92061393
24	P300_19829295_ChIP-Seq_ESCs_Human	1.89254445
25	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.83710722
26	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.80502911
27	IGF1R_20145208_ChIP-Seq_DFB_Human	1.80120808
28	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.74176262
29	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.70718536
30	ELK1_19687146_ChIP-ChIP_HELA_Human	1.70227783
31	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.66144368
32	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.58466592
33	VDR_23849224_ChIP-Seq_CD4+_Human	1.57825945
34	MYC_18940864_ChIP-ChIP_HL60_Human	1.56398422
35	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.52086353
36	TP53_22573176_ChIP-Seq_HFKS_Human	1.47071026
37	ER_23166858_ChIP-Seq_MCF-7_Human	1.42742012
38	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.42398878
39	REST_21632747_ChIP-Seq_MESCs_Mouse	1.39578861
40	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.39366297
41	HTT_18923047_ChIP-ChIP_STHdh_Human	1.37935273
42	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.36824189
43	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.36630521
44	CBP_20019798_ChIP-Seq_JUKART_Human	1.36630521
45	BCAT_22108803_ChIP-Seq_LS180_Human	1.33295017
46	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.32854766
47	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.32239817
48	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.30245494
49	RNF2_27304074_Chip-Seq_NSC_Mouse	1.29964724
50	SMAD4_21799915_ChIP-Seq_A2780_Human	1.27200021
51	AR_25329375_ChIP-Seq_VCAP_Human	1.27171473
52	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.26570381
53	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.25822742
54	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.25184095
55	NANOG_19829295_ChIP-Seq_ESCs_Human	1.24786233
56	SOX2_19829295_ChIP-Seq_ESCs_Human	1.24786233
57	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.24110975
58	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.23904180
59	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.23904180
60	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.23567123
61	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.19998404
62	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.19928155
63	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.19536116
64	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.18951750
65	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.18668701
66	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.17320500
67	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.14446603
68	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.13752450
69	AR_20517297_ChIP-Seq_VCAP_Human	1.13523149
70	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.11216503
71	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.10438163
72	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.10394651
73	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.10150097
74	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.10032846
75	NCOR_22424771_ChIP-Seq_293T_Human	1.09891425
76	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.09513222
77	FOXP3_21729870_ChIP-Seq_TREG_Human	1.09017866
78	TCF4_22108803_ChIP-Seq_LS180_Human	1.08998152
79	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.08885944
80	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.06904983
81	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.04106811
82	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.04106811
83	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.03940986
84	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.02354549
85	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.01757981
86	IRF1_19129219_ChIP-ChIP_H3396_Human	1.01593883
87	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.01515431
88	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.00950465
89	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.00594150
90	RUNX2_22187159_ChIP-Seq_PCA_Human	1.00074324
91	STAT3_23295773_ChIP-Seq_U87_Human	0.99046320
92	P53_22387025_ChIP-Seq_ESCs_Mouse	0.98869380
93	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.98447074
94	TCF4_23295773_ChIP-Seq_U87_Human	0.98264218
95	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.97336950
96	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.96137694
97	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.95392399
98	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.95365833
99	SALL1_21062744_ChIP-ChIP_HESCs_Human	0.94103469
100	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.92700908

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	2.81211030
2	MP0003787_abnormal_imprinting	2.77876751
3	MP0003880_abnormal_central_pattern	2.51332881
4	MP0002837_dystrophic_cardiac_calcinosis	2.47891465
5	MP0001984_abnormal_olfaction	2.46796727
6	MP0002102_abnormal_ear_morphology	2.36487927
7	MP0005084_abnormal_gallbladder_morpholo	2.35092116
8	MP0006072_abnormal_retinal_apoptosis	2.15546970
9	MP0003195_calcinosis	2.14541478
10	MP0005551_abnormal_eye_electrophysiolog	2.12628920
11	MP0009046_muscle_twitch	2.10093616
12	MP0003122_maternal_imprinting	2.07198944
13	MP0002272_abnormal_nervous_system	2.01915263
14	MP0002938_white_spotting	2.01403503
15	MP0003011_delayed_dark_adaptation	1.99684163
16	MP0001529_abnormal_vocalization	1.99603680
17	MP0009745_abnormal_behavioral_response	1.96728195
18	MP0005646_abnormal_pituitary_gland	1.95529275
19	MP0010386_abnormal_urinary_bladder	1.90414215
20	MP0006292_abnormal_olfactory_placode	1.88063084
21	MP0002638_abnormal_pupillary_reflex	1.85661676
22	MP0004147_increased_porphyrin_level	1.83702691
23	MP0005645_abnormal_hypothalamus_physiol	1.76679020
24	MP0002653_abnormal_ependyma_morphology	1.75656954
25	MP0001968_abnormal_touch/_nociception	1.70986996
26	MP0001485_abnormal_pinna_reflex	1.69477897
27	MP0003283_abnormal_digestive_organ	1.68388131
28	MP0005379_endocrine/exocrine_gland_phen	1.67985100
29	MP0004142_abnormal_muscle_tone	1.65564990
30	MP0006276_abnormal_autonomic_nervous	1.63198802
31	MP0001905_abnormal_dopamine_level	1.62828670
32	MP0002064_seizures	1.60832513
33	MP0002909_abnormal_adrenal_gland	1.59768433
34	MP0005253_abnormal_eye_physiology	1.56885460
35	MP0000372_irregular_coat_pigmentation	1.55869957
36	MP0001486_abnormal_startle_reflex	1.55521644
37	MP0005423_abnormal_somatic_nervous	1.52805305
38	MP0004133_heterotaxia	1.52084140
39	MP0003121_genomic_imprinting	1.48832074
40	MP0002876_abnormal_thyroid_physiology	1.45115228
41	MP0003136_yellow_coat_color	1.44614309
42	MP0002572_abnormal_emotion/affect_behav	1.44046533
43	MP0002163_abnormal_gland_morphology	1.43898568
44	MP0008875_abnormal_xenobiotic_pharmacok	1.43432017
45	MP0002736_abnormal_nociception_after	1.40313470
46	MP0004885_abnormal_endolymph	1.35164518
47	MP0000631_abnormal_neuroendocrine_gland	1.31275065
48	MP0003806_abnormal_nucleotide_metabolis	1.30917427
49	MP0006036_abnormal_mitochondrial_physio	1.30352649
50	MP0005410_abnormal_fertilization	1.29896696
51	MP0002557_abnormal_social/conspecific_i	1.29809203
52	MP0008872_abnormal_physiological_respon	1.29472060
53	MP0003186_abnormal_redox_activity	1.28302954
54	MP0003635_abnormal_synaptic_transmissio	1.26894695
55	MP0002734_abnormal_mechanical_nocicepti	1.26628994
56	MP0001970_abnormal_pain_threshold	1.25559081
57	MP0002160_abnormal_reproductive_system	1.24041317
58	MP0008789_abnormal_olfactory_epithelium	1.23451790
59	MP0000569_abnormal_digit_pigmentation	1.20337318
60	MP0002067_abnormal_sensory_capabilities	1.17861792
61	MP0002063_abnormal_learning/memory/cond	1.16779130
62	MP0004270_analgesia	1.13667816
63	MP0002733_abnormal_thermal_nociception	1.13045309
64	MP0004924_abnormal_behavior	1.11639434
65	MP0005386_behavior/neurological_phenoty	1.11639434
66	MP0002090_abnormal_vision	1.09489778
67	MP0009780_abnormal_chondrocyte_physiolo	1.05094878
68	MP0002229_neurodegeneration	1.02750664
69	MP0005389_reproductive_system_phenotype	1.01542089
70	MP0001501_abnormal_sleep_pattern	1.00668512
71	MP0001188_hyperpigmentation	0.99906530
72	MP0004742_abnormal_vestibular_system	0.99264665
73	MP0004859_abnormal_synaptic_plasticity	0.99201023
74	MP0002693_abnormal_pancreas_physiology	0.97918145
75	MP0002184_abnormal_innervation	0.97827990
76	MP0001944_abnormal_pancreas_morphology	0.97475102
77	MP0009379_abnormal_foot_pigmentation	0.96902603
78	MP0005195_abnormal_posterior_eye	0.96545062
79	MP0005332_abnormal_amino_acid	0.95841455
80	MP0004215_abnormal_myocardial_fiber	0.95030845
81	MP0008058_abnormal_DNA_repair	0.94722160
82	MP0001440_abnormal_grooming_behavior	0.91609653
83	MP0000778_abnormal_nervous_system	0.90555784
84	MP0005394_taste/olfaction_phenotype	0.89688633
85	MP0005499_abnormal_olfactory_system	0.89688633
86	MP0002752_abnormal_somatic_nervous	0.89584472
87	MP0002277_abnormal_respiratory_mucosa	0.87464150
88	MP0005174_abnormal_tail_pigmentation	0.86188138
89	MP0000955_abnormal_spinal_cord	0.86019528
90	MP0003698_abnormal_male_reproductive	0.85130307
91	MP0003718_maternal_effect	0.84861176
92	MP0005075_abnormal_melanosome_morpholog	0.84699108
93	MP0004019_abnormal_vitamin_homeostasis	0.84097308
94	MP0002928_abnormal_bile_duct	0.83544174
95	MP0001963_abnormal_hearing_physiology	0.83382448
96	MP0001929_abnormal_gametogenesis	0.82593216
97	MP0001919_abnormal_reproductive_system	0.81136525
98	MP0003137_abnormal_impulse_conducting	0.78747884
99	MP0000026_abnormal_inner_ear	0.77805952
100	MP0001293_anophthalmia	0.77213962

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	4.46729095
2	Mitochondrial inheritance (HP:0001427)	4.20361798
3	Abnormal mitochondria in muscle tissue (HP:0008316)	4.06553073
4	Progressive macrocephaly (HP:0004481)	3.94081462
5	Increased CSF lactate (HP:0002490)	3.81152607
6	Acute encephalopathy (HP:0006846)	3.76100944
7	Increased hepatocellular lipid droplets (HP:0006565)	3.75381987
8	Abnormality of midbrain morphology (HP:0002418)	3.64720013
9	Molar tooth sign on MRI (HP:0002419)	3.64720013
10	Medial flaring of the eyebrow (HP:0010747)	3.58116342
11	Lipid accumulation in hepatocytes (HP:0006561)	3.49126817
12	Hepatocellular necrosis (HP:0001404)	3.49002446
13	Pancreatic cysts (HP:0001737)	3.47613316
14	Pancreatic fibrosis (HP:0100732)	3.46149445
15	Hepatic necrosis (HP:0002605)	3.41924651
16	Nephronophthisis (HP:0000090)	3.32204085
17	Renal Fanconi syndrome (HP:0001994)	3.31748216
18	True hermaphroditism (HP:0010459)	3.28790120
19	3-Methylglutaconic aciduria (HP:0003535)	3.28787842
20	Methylmalonic acidemia (HP:0002912)	3.22142664
21	Gait imbalance (HP:0002141)	2.92124094
22	Cerebral edema (HP:0002181)	2.82177500
23	Congenital primary aphakia (HP:0007707)	2.81974897
24	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.69369112
25	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.69369112
26	Methylmalonic aciduria (HP:0012120)	2.68645685
27	Increased intramyocellular lipid droplets (HP:0012240)	2.67916519
28	Abnormality of the renal medulla (HP:0100957)	2.66129706
29	Hypothermia (HP:0002045)	2.59590532
30	Nephrogenic diabetes insipidus (HP:0009806)	2.58632796
31	Abnormality of renal resorption (HP:0011038)	2.57262334
32	Hyperinsulinemic hypoglycemia (HP:0000825)	2.54726327
33	Myokymia (HP:0002411)	2.49539530
34	Exertional dyspnea (HP:0002875)	2.49293304
35	Genital tract atresia (HP:0001827)	2.43018368
36	Abnormality of the renal cortex (HP:0011035)	2.42751752
37	Abnormality of urine glucose concentration (HP:0011016)	2.40638269
38	Glycosuria (HP:0003076)	2.40638269
39	Optic disc pallor (HP:0000543)	2.40102302
40	Vaginal atresia (HP:0000148)	2.38117865
41	Congenital stationary night blindness (HP:0007642)	2.36879316
42	Lactic acidosis (HP:0003128)	2.34505674
43	Increased serum lactate (HP:0002151)	2.27528982
44	Respiratory failure (HP:0002878)	2.27421016
45	Renal cortical cysts (HP:0000803)	2.24205692
46	Type II lissencephaly (HP:0007260)	2.22710835
47	Congenital, generalized hypertrichosis (HP:0004540)	2.20958567
48	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.19216372
49	Increased muscle lipid content (HP:0009058)	2.18531014
50	Hyperglycinemia (HP:0002154)	2.17563175
51	Abnormal ciliary motility (HP:0012262)	2.14934006
52	Cystic liver disease (HP:0006706)	2.13195110
53	Abnormal respiratory epithelium morphology (HP:0012253)	2.13027155
54	Abnormal respiratory motile cilium morphology (HP:0005938)	2.13027155
55	Abnormality of the labia minora (HP:0012880)	2.12547433
56	Sclerocornea (HP:0000647)	2.09919896
57	Abnormal drinking behavior (HP:0030082)	2.06933224
58	Polydipsia (HP:0001959)	2.06933224
59	Hypoglycemic coma (HP:0001325)	2.06759786
60	Absent/shortened dynein arms (HP:0200106)	2.06522212
61	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.06522212
62	Leukodystrophy (HP:0002415)	2.06417707
63	Polyphagia (HP:0002591)	2.06262760
64	Hyperphosphaturia (HP:0003109)	2.05403177
65	Intestinal atresia (HP:0011100)	2.05122220
66	Lethargy (HP:0001254)	2.04626505
67	Ketoacidosis (HP:0001993)	2.04477626
68	Limb dystonia (HP:0002451)	2.03464742
69	Abnormal respiratory motile cilium physiology (HP:0012261)	2.02923532
70	Ketosis (HP:0001946)	1.99327256
71	Congenital hepatic fibrosis (HP:0002612)	1.97981104
72	Abnormality of vitamin B metabolism (HP:0004340)	1.97651389
73	Large for gestational age (HP:0001520)	1.96548393
74	Progressive cerebellar ataxia (HP:0002073)	1.96106236
75	Male pseudohermaphroditism (HP:0000037)	1.95587793
76	Febrile seizures (HP:0002373)	1.95164002
77	Abolished electroretinogram (ERG) (HP:0000550)	1.93578178
78	Focal motor seizures (HP:0011153)	1.93184950
79	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.92617693
80	Abnormality of alanine metabolism (HP:0010916)	1.92617693
81	Hyperalaninemia (HP:0003348)	1.92617693
82	Short tibia (HP:0005736)	1.92556562
83	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.89745929
84	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.87711936
85	Dialeptic seizures (HP:0011146)	1.87710973
86	Optic nerve hypoplasia (HP:0000609)	1.86883567
87	Hemiparesis (HP:0001269)	1.85747092
88	Exercise intolerance (HP:0003546)	1.85541337
89	Hypomagnesemia (HP:0002917)	1.84915069
90	CNS demyelination (HP:0007305)	1.84735656
91	Tubular atrophy (HP:0000092)	1.82666303
92	Chronic hepatic failure (HP:0100626)	1.82184600
93	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.82177236
94	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.81522860
95	Dicarboxylic aciduria (HP:0003215)	1.81522860
96	Abnormal rod and cone electroretinograms (HP:0008323)	1.81115721
97	Generalized aminoaciduria (HP:0002909)	1.80930433
98	Aplasia/hypoplasia of the uterus (HP:0008684)	1.80834871
99	Anencephaly (HP:0002323)	1.79520645
100	Type I transferrin isoform profile (HP:0003642)	1.78531609

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	3.47104038
2	BMPR1B	3.21109966
3	FRK	3.15123698
4	ADRBK2	2.59647690
5	WNK3	2.59025159
6	STK16	2.45175825
7	PINK1	2.41405050
8	GRK1	2.20501347
9	BCKDK	2.13248849
10	VRK2	2.10447014
11	ZAK	2.09786534
12	PNCK	2.04345611
13	TNIK	1.86759246
14	NUAK1	1.83511467
15	INSRR	1.82721100
16	MAP3K4	1.71464448
17	CASK	1.61140722
18	MAPK13	1.60250538
19	DYRK2	1.54721927
20	MAP3K12	1.52285612
21	DAPK2	1.50821766
22	VRK1	1.48144124
23	MAP2K7	1.46367057
24	LIMK1	1.41275258
25	PRKCG	1.36605985
26	ACVR1B	1.33373638
27	WNK4	1.30607568
28	NTRK3	1.28696281
29	PHKG2	1.27854445
30	PHKG1	1.27854445
31	PAK3	1.27191432
32	PLK2	1.24514683
33	MARK1	1.24316339
34	EPHA4	1.18967157
35	MST4	1.18594278
36	TLK1	1.17877342
37	PLK3	1.08137802
38	TXK	1.06842451
39	PASK	1.03879606
40	CSNK1G2	0.99374972
41	OXSR1	0.95989289
42	FGFR2	0.93533944
43	PRKCE	0.93478619
44	CSNK1G1	0.93152265
45	CSNK1G3	0.89670784
46	NME1	0.88561560
47	NTRK2	0.85044667
48	BUB1	0.83180141
49	TRIM28	0.82956851
50	TGFBR1	0.80991046
51	TAOK3	0.76717060
52	CAMKK2	0.75941453
53	MKNK2	0.74731701
54	CAMK2A	0.73335494
55	UHMK1	0.72606487
56	MINK1	0.68729096
57	STK39	0.67538365
58	EIF2AK3	0.67480107
59	PDK2	0.66083289
60	ADRBK1	0.65212045
61	ERBB3	0.62178173
62	GRK5	0.61385497
63	BCR	0.61282161
64	CAMK1	0.60293249
65	STK38L	0.59655789
66	RPS6KA5	0.57687230
67	PRKACA	0.57271625
68	PLK1	0.56347269
69	SRPK1	0.56096647
70	PLK4	0.55719196
71	CDC7	0.55317787
72	DAPK1	0.55150777
73	NEK1	0.52264622
74	CDK19	0.51618363
75	PRKCQ	0.51559978
76	OBSCN	0.51013188
77	CAMK2D	0.49552683
78	CDK8	0.49089984
79	CSNK1A1	0.49077215
80	PRKG1	0.48017301
81	MAPK15	0.47465599
82	PIK3CA	0.47237676
83	GRK7	0.46792302
84	MUSK	0.46255482
85	NLK	0.46250684
86	MAP2K6	0.45903422
87	CCNB1	0.45141330
88	PKN1	0.45079517
89	KIT	0.44040316
90	PRKCA	0.43567330
91	MKNK1	0.42971003
92	TIE1	0.42030705
93	WEE1	0.41830787
94	BRSK2	0.41555285
95	CSNK1A1L	0.40371799
96	PRKACB	0.38701470
97	PRKCI	0.38429261
98	ABL2	0.37726186
99	CSNK2A2	0.37717632
100	CDK3	0.36191019

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	4.48571826
2	Parkinsons disease_Homo sapiens_hsa05012	3.57757761
3	Protein export_Homo sapiens_hsa03060	3.26661435
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.65297947
5	Proteasome_Homo sapiens_hsa03050	2.56573804
6	Huntingtons disease_Homo sapiens_hsa05016	2.48247754
7	Alzheimers disease_Homo sapiens_hsa05010	2.43696831
8	Ribosome_Homo sapiens_hsa03010	2.41543483
9	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.41323120
10	Cardiac muscle contraction_Homo sapiens_hsa04260	2.29480055
11	RNA polymerase_Homo sapiens_hsa03020	2.08362362
12	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.06928013
13	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.01343611
14	Butanoate metabolism_Homo sapiens_hsa00650	2.00068245
15	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.83091736
16	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.70595105
17	Nicotine addiction_Homo sapiens_hsa05033	1.68080284
18	Folate biosynthesis_Homo sapiens_hsa00790	1.63958341
19	Collecting duct acid secretion_Homo sapiens_hsa04966	1.59832145
20	Phototransduction_Homo sapiens_hsa04744	1.58686231
21	Propanoate metabolism_Homo sapiens_hsa00640	1.52542435
22	Tryptophan metabolism_Homo sapiens_hsa00380	1.40320736
23	Homologous recombination_Homo sapiens_hsa03440	1.39749679
24	Nitrogen metabolism_Homo sapiens_hsa00910	1.39550597
25	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.33193208
26	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.26665513
27	Basal transcription factors_Homo sapiens_hsa03022	1.26178978
28	Peroxisome_Homo sapiens_hsa04146	1.21276790
29	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.16070732
30	Fatty acid elongation_Homo sapiens_hsa00062	1.16029896
31	Selenocompound metabolism_Homo sapiens_hsa00450	1.16015167
32	Insulin secretion_Homo sapiens_hsa04911	1.12149055
33	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.11340492
34	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.07137093
35	Regulation of autophagy_Homo sapiens_hsa04140	1.03705624
36	GABAergic synapse_Homo sapiens_hsa04727	1.02614830
37	Morphine addiction_Homo sapiens_hsa05032	0.98264169
38	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.97821711
39	Linoleic acid metabolism_Homo sapiens_hsa00591	0.96584836
40	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.96493119
41	Sulfur metabolism_Homo sapiens_hsa00920	0.95311721
42	Purine metabolism_Homo sapiens_hsa00230	0.93620425
43	Caffeine metabolism_Homo sapiens_hsa00232	0.92562172
44	RNA degradation_Homo sapiens_hsa03018	0.91489100
45	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.89224978
46	beta-Alanine metabolism_Homo sapiens_hsa00410	0.87249076
47	Chemical carcinogenesis_Homo sapiens_hsa05204	0.86870832
48	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.86184692
49	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.85010871
50	Metabolic pathways_Homo sapiens_hsa01100	0.84936561
51	Steroid biosynthesis_Homo sapiens_hsa00100	0.84651638
52	Pyrimidine metabolism_Homo sapiens_hsa00240	0.83288187
53	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.82887751
54	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.80105803
55	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.78787805
56	Fanconi anemia pathway_Homo sapiens_hsa03460	0.78761699
57	Circadian entrainment_Homo sapiens_hsa04713	0.78644318
58	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.74854077
59	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.73319352
60	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.73299177
61	Fatty acid degradation_Homo sapiens_hsa00071	0.73044418
62	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.70995267
63	One carbon pool by folate_Homo sapiens_hsa00670	0.70960630
64	Serotonergic synapse_Homo sapiens_hsa04726	0.70129642
65	Ether lipid metabolism_Homo sapiens_hsa00565	0.69891158
66	Mismatch repair_Homo sapiens_hsa03430	0.69071077
67	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.68556430
68	Olfactory transduction_Homo sapiens_hsa04740	0.68448131
69	Pyruvate metabolism_Homo sapiens_hsa00620	0.68021409
70	Glutathione metabolism_Homo sapiens_hsa00480	0.68004739
71	Taste transduction_Homo sapiens_hsa04742	0.67475527
72	Dopaminergic synapse_Homo sapiens_hsa04728	0.65681705
73	Retinol metabolism_Homo sapiens_hsa00830	0.65140453
74	Nucleotide excision repair_Homo sapiens_hsa03420	0.63449311
75	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.61898632
76	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.61470271
77	Glutamatergic synapse_Homo sapiens_hsa04724	0.60010361
78	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.54963909
79	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.54277521
80	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.54219874
81	Fatty acid metabolism_Homo sapiens_hsa01212	0.53534057
82	Amphetamine addiction_Homo sapiens_hsa05031	0.52373578
83	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.52232506
84	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.48823169
85	Salivary secretion_Homo sapiens_hsa04970	0.47523702
86	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.47460303
87	Mineral absorption_Homo sapiens_hsa04978	0.45282647
88	Type I diabetes mellitus_Homo sapiens_hsa04940	0.43792560
89	Cocaine addiction_Homo sapiens_hsa05030	0.42678416
90	Tyrosine metabolism_Homo sapiens_hsa00350	0.42178866
91	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.40317689
92	Non-homologous end-joining_Homo sapiens_hsa03450	0.38365784
93	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.37719484
94	Base excision repair_Homo sapiens_hsa03410	0.35183700
95	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.35018699
96	RNA transport_Homo sapiens_hsa03013	0.34341979
97	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.32411507
98	Arginine and proline metabolism_Homo sapiens_hsa00330	0.31371509
99	Rheumatoid arthritis_Homo sapiens_hsa05323	0.31049108
100	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.30492393

C2ORF74

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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