ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	4.40910279
2	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	4.40910279
3	protein complex biogenesis (GO:0070271)	3.97345688
4	protein localization to cilium (GO:0061512)	3.88340073
5	cellular ketone body metabolic process (GO:0046950)	3.85455194
6	regulation of glucokinase activity (GO:0033131)	3.74662703
7	regulation of hexokinase activity (GO:1903299)	3.74662703
8	protein-cofactor linkage (GO:0018065)	3.70680229
9	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.69008250
10	NADH dehydrogenase complex assembly (GO:0010257)	3.69008250
11	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.69008250
12	sulfur amino acid catabolic process (GO:0000098)	3.67269215
13	platelet dense granule organization (GO:0060155)	3.56257689
14	mitochondrial respiratory chain complex assembly (GO:0033108)	3.53644312
15	S-adenosylmethionine metabolic process (GO:0046500)	3.49431883
16	inositol phosphate catabolic process (GO:0071545)	3.44800004
17	cysteine metabolic process (GO:0006534)	3.41512933
18	adenosine metabolic process (GO:0046085)	3.41110469
19	respiratory chain complex IV assembly (GO:0008535)	3.38906631
20	ketone body metabolic process (GO:1902224)	3.38234761
21	inositol phosphate dephosphorylation (GO:0046855)	3.32965234
22	phosphorylated carbohydrate dephosphorylation (GO:0046838)	3.32965234
23	homocysteine metabolic process (GO:0050667)	3.32042918
24	water-soluble vitamin biosynthetic process (GO:0042364)	3.31771168
25	protein polyglutamylation (GO:0018095)	3.20761129
26	GPI anchor biosynthetic process (GO:0006506)	3.19933675
27	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.16946862
28	positive regulation of amino acid transport (GO:0051957)	3.13919517
29	regulation of cilium movement (GO:0003352)	3.13263513
30	L-phenylalanine catabolic process (GO:0006559)	3.11837784
31	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	3.11837784
32	peroxisome fission (GO:0016559)	3.10675566
33	positive regulation of mitochondrial fission (GO:0090141)	3.06353054
34	GPI anchor metabolic process (GO:0006505)	3.03804325
35	axoneme assembly (GO:0035082)	3.03563336
36	preassembly of GPI anchor in ER membrane (GO:0016254)	3.00808114
37	cytochrome complex assembly (GO:0017004)	3.00465775
38	microtubule nucleation (GO:0007020)	3.00445745
39	branched-chain amino acid catabolic process (GO:0009083)	3.00242085
40	glycerophospholipid catabolic process (GO:0046475)	2.99587526
41	short-chain fatty acid metabolic process (GO:0046459)	2.99267618
42	positive regulation of glycolytic process (GO:0045821)	2.98502880
43	endocrine pancreas development (GO:0031018)	2.98210495
44	purine nucleotide salvage (GO:0032261)	2.97099455
45	mannosylation (GO:0097502)	2.96539381
46	single strand break repair (GO:0000012)	2.93372756
47	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	2.92685094
48	ATP hydrolysis coupled proton transport (GO:0015991)	2.92685094
49	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.92300193
50	epithelial cilium movement (GO:0003351)	2.92004977
51	rRNA modification (GO:0000154)	2.91626501
52	organic cation transport (GO:0015695)	2.91032842
53	rRNA methylation (GO:0031167)	2.88820015
54	pyrimidine nucleobase catabolic process (GO:0006208)	2.83848500
55	cilium or flagellum-dependent cell motility (GO:0001539)	2.83587096
56	response to pheromone (GO:0019236)	2.80595935
57	aromatic amino acid family catabolic process (GO:0009074)	2.80471760
58	aldehyde catabolic process (GO:0046185)	2.73173143
59	peptidyl-cysteine modification (GO:0018198)	2.66936741
60	polyol catabolic process (GO:0046174)	2.65696812
61	nucleobase catabolic process (GO:0046113)	2.64416744
62	L-phenylalanine metabolic process (GO:0006558)	2.63957407
63	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	2.63957407
64	neurotransmitter catabolic process (GO:0042135)	2.61806582
65	electron transport chain (GO:0022900)	2.60073395
66	respiratory electron transport chain (GO:0022904)	2.58871796
67	axonemal dynein complex assembly (GO:0070286)	2.58256368
68	mitochondrial RNA metabolic process (GO:0000959)	2.58131376
69	adaptation of signaling pathway (GO:0023058)	2.57318038
70	negative regulation of membrane potential (GO:0045837)	2.56502206
71	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.56451026
72	phosphatidylglycerol biosynthetic process (GO:0006655)	2.56321918
73	positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:00357	2.55859936
74	tryptophan catabolic process (GO:0006569)	2.52590849
75	indole-containing compound catabolic process (GO:0042436)	2.52590849
76	indolalkylamine catabolic process (GO:0046218)	2.52590849
77	positive regulation of insulin secretion (GO:0032024)	2.51397071
78	C-terminal protein lipidation (GO:0006501)	2.50108112
79	negative regulation of acute inflammatory response (GO:0002674)	2.50041251
80	inner mitochondrial membrane organization (GO:0007007)	2.49951859
81	intraciliary transport (GO:0042073)	2.48443650
82	branched-chain amino acid metabolic process (GO:0009081)	2.47951647
83	nonmotile primary cilium assembly (GO:0035058)	2.44367300
84	cilium movement (GO:0003341)	2.42656110
85	nitric oxide mediated signal transduction (GO:0007263)	2.41311212
86	dopamine transport (GO:0015872)	2.41161931
87	xenobiotic catabolic process (GO:0042178)	2.40167845
88	positive regulation of peptide hormone secretion (GO:0090277)	2.39586220
89	galactose catabolic process (GO:0019388)	2.38201379
90	spermatid nucleus differentiation (GO:0007289)	2.37395491
91	growth hormone secretion (GO:0030252)	2.36751855
92	pteridine-containing compound biosynthetic process (GO:0042559)	2.36526005
93	regulation of plasminogen activation (GO:0010755)	2.35667780
94	detection of calcium ion (GO:0005513)	2.35298930
95	anterograde synaptic vesicle transport (GO:0048490)	2.34237655
96	polyamine metabolic process (GO:0006595)	2.34103076
97	response to lipoprotein particle (GO:0055094)	2.32153035
98	cullin deneddylation (GO:0010388)	2.30830353
99	serine family amino acid catabolic process (GO:0009071)	2.29541732
100	glycolipid biosynthetic process (GO:0009247)	2.29040324

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	6.82614476
2	IGF1R_20145208_ChIP-Seq_DFB_Human	2.72554839
3	ZNF274_21170338_ChIP-Seq_K562_Hela	2.71791955
4	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.66767009
5	* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.60487474
6	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.59661889
7	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.45555122
8	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.45124914
9	VDR_22108803_ChIP-Seq_LS180_Human	2.36156100
10	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.31998924
11	FUS_26573619_Chip-Seq_HEK293_Human	2.28668002
12	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.28381070
13	GBX2_23144817_ChIP-Seq_PC3_Human	2.09098404
14	EWS_26573619_Chip-Seq_HEK293_Human	2.01158136
15	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.00964451
16	TAF15_26573619_Chip-Seq_HEK293_Human	1.97684944
17	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.96984896
18	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.95970241
19	TP53_22573176_ChIP-Seq_HFKS_Human	1.78365617
20	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.74873679
21	VDR_23849224_ChIP-Seq_CD4+_Human	1.73614033
22	* CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.73019565
23	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.72599945
24	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.69442927
25	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.62467610
26	P300_19829295_ChIP-Seq_ESCs_Human	1.62219377
27	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.59985031
28	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.57730397
29	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.57549808
30	ER_23166858_ChIP-Seq_MCF-7_Human	1.54965842
31	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.53430174
32	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.45539695
33	NCOR_22424771_ChIP-Seq_293T_Human	1.42144166
34	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.41097867
35	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.39802991
36	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.39668096
37	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.37192622
38	REST_21632747_ChIP-Seq_MESCs_Mouse	1.35679591
39	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.35623829
40	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.35251525
41	AR_20517297_ChIP-Seq_VCAP_Human	1.32205932
42	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.31357206
43	NANOG_19829295_ChIP-Seq_ESCs_Human	1.30473713
44	SOX2_19829295_ChIP-Seq_ESCs_Human	1.30473713
45	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.29619921
46	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.28610409
47	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.27361767
48	CBP_20019798_ChIP-Seq_JUKART_Human	1.27361767
49	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.26400230
50	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.24528436
51	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.23220374
52	BCAT_22108803_ChIP-Seq_LS180_Human	1.22907229
53	AR_25329375_ChIP-Seq_VCAP_Human	1.22863777
54	SMAD4_21799915_ChIP-Seq_A2780_Human	1.22357042
55	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.22353017
56	HTT_18923047_ChIP-ChIP_STHdh_Human	1.22084401
57	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.21548429
58	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.21548429
59	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.16154679
60	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.15902905
61	FOXP3_21729870_ChIP-Seq_TREG_Human	1.15136511
62	RNF2_27304074_Chip-Seq_NSC_Mouse	1.15051872
63	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.14188595
64	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.13774354
65	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.13323176
66	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.12776639
67	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.12740868
68	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.11835429
69	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.10784501
70	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.10750603
71	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.10723286
72	RUNX2_22187159_ChIP-Seq_PCA_Human	1.08650304
73	IRF1_19129219_ChIP-ChIP_H3396_Human	1.07813284
74	ERG_20517297_ChIP-Seq_VCAP_Human	1.07631300
75	MYC_18940864_ChIP-ChIP_HL60_Human	1.07322591
76	STAT3_23295773_ChIP-Seq_U87_Human	1.07024642
77	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.06871563
78	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.06532898
79	ELK1_19687146_ChIP-ChIP_HELA_Human	1.05905625
80	CDX2_22108803_ChIP-Seq_LS180_Human	1.05772679
81	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.04535363
82	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.04210068
83	TCF4_22108803_ChIP-Seq_LS180_Human	0.99897337
84	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.99071164
85	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	0.98974060
86	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.98520613
87	NANOG_20526341_ChIP-Seq_ESCs_Human	0.97121872
88	TCF4_23295773_ChIP-Seq_U87_Human	0.96685963
89	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.96291755
90	HOXB7_26014856_ChIP-Seq_BT474_Human	0.96065399
91	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.95579047
92	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.95075372
93	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.92216146
94	TAF2_19829295_ChIP-Seq_ESCs_Human	0.92057494
95	EZH2_22144423_ChIP-Seq_EOC_Human	0.91822994
96	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.91812923
97	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.91452632
98	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.90088571
99	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.89997915
100	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.89871331

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005646_abnormal_pituitary_gland	3.12011712
2	MP0002837_dystrophic_cardiac_calcinosis	3.07843056
3	MP0003787_abnormal_imprinting	2.67691861
4	MP0002822_catalepsy	2.63829251
5	MP0003195_calcinosis	2.61601938
6	MP0000013_abnormal_adipose_tissue	2.19677391
7	MP0008877_abnormal_DNA_methylation	2.15718871
8	MP0002102_abnormal_ear_morphology	2.12124959
9	MP0008995_early_reproductive_senescence	2.10760981
10	MP0002909_abnormal_adrenal_gland	2.10570463
11	MP0003880_abnormal_central_pattern	2.08129436
12	MP0006036_abnormal_mitochondrial_physio	2.04226942
13	MP0006072_abnormal_retinal_apoptosis	2.01623133
14	MP0001986_abnormal_taste_sensitivity	1.94970915
15	MP0005645_abnormal_hypothalamus_physiol	1.94629444
16	MP0004147_increased_porphyrin_level	1.90485735
17	MP0005551_abnormal_eye_electrophysiolog	1.90339301
18	MP0002876_abnormal_thyroid_physiology	1.84193087
19	MP0001984_abnormal_olfaction	1.83217875
20	MP0001764_abnormal_homeostasis	1.82839862
21	MP0005379_endocrine/exocrine_gland_phen	1.81705504
22	MP0004043_abnormal_pH_regulation	1.76297984
23	MP0005253_abnormal_eye_physiology	1.73067286
24	MP0005332_abnormal_amino_acid	1.72261133
25	MP0003122_maternal_imprinting	1.69289059
26	MP0009046_muscle_twitch	1.66247841
27	MP0003011_delayed_dark_adaptation	1.64932962
28	MP0002139_abnormal_hepatobiliary_system	1.63858413
29	MP0005423_abnormal_somatic_nervous	1.62317552
30	MP0005670_abnormal_white_adipose	1.55810360
31	MP0002735_abnormal_chemical_nociception	1.53787080
32	MP0002938_white_spotting	1.53254455
33	MP0006276_abnormal_autonomic_nervous	1.51993634
34	MP0002638_abnormal_pupillary_reflex	1.51983059
35	MP0008058_abnormal_DNA_repair	1.48278706
36	MP0005220_abnormal_exocrine_pancreas	1.47641048
37	MP0009780_abnormal_chondrocyte_physiolo	1.46332513
38	MP0001944_abnormal_pancreas_morphology	1.45814277
39	MP0003283_abnormal_digestive_organ	1.43253597
40	MP0001905_abnormal_dopamine_level	1.42848596
41	MP0009745_abnormal_behavioral_response	1.41276032
42	MP0001529_abnormal_vocalization	1.40910408
43	MP0005410_abnormal_fertilization	1.38589581
44	MP0001756_abnormal_urination	1.35841076
45	MP0004885_abnormal_endolymph	1.35354247
46	MP0008872_abnormal_physiological_respon	1.34391985
47	MP0002693_abnormal_pancreas_physiology	1.34034824
48	MP0003186_abnormal_redox_activity	1.33947137
49	MP0001486_abnormal_startle_reflex	1.32210752
50	MP0000516_abnormal_urinary_system	1.29044805
51	MP0005367_renal/urinary_system_phenotyp	1.29044805
52	MP0000372_irregular_coat_pigmentation	1.27357565
53	MP0003121_genomic_imprinting	1.25897252
54	MP0002078_abnormal_glucose_homeostasis	1.25468331
55	MP0002095_abnormal_skin_pigmentation	1.24381974
56	MP0002272_abnormal_nervous_system	1.23213973
57	MP0002229_neurodegeneration	1.21715870
58	MP0005636_abnormal_mineral_homeostasis	1.21538095
59	MP0006035_abnormal_mitochondrial_morpho	1.21007208
60	MP0001968_abnormal_touch/_nociception	1.18275235
61	MP0008875_abnormal_xenobiotic_pharmacok	1.18058819
62	MP0002132_abnormal_respiratory_system	1.11723264
63	MP0001661_extended_life_span	1.11359231
64	MP0002163_abnormal_gland_morphology	1.08989913
65	MP0004133_heterotaxia	1.08896977
66	MP0002160_abnormal_reproductive_system	1.06642309
67	MP0004142_abnormal_muscle_tone	1.06253025
68	MP0005084_abnormal_gallbladder_morpholo	1.05176765
69	MP0005075_abnormal_melanosome_morpholog	1.04184476
70	MP0005535_abnormal_body_temperature	1.03029381
71	MP0005365_abnormal_bile_salt	1.02853790
72	MP0002572_abnormal_emotion/affect_behav	1.01171815
73	MP0003646_muscle_fatigue	1.00952623
74	MP0002138_abnormal_hepatobiliary_system	1.00918541
75	MP0002064_seizures	0.99666673
76	MP0000631_abnormal_neuroendocrine_gland	0.99259645
77	MP0010329_abnormal_lipoprotein_level	0.95934815
78	MP0003698_abnormal_male_reproductive	0.93147392
79	MP0003724_increased_susceptibility_to	0.92949893
80	MP0002557_abnormal_social/conspecific_i	0.92819866
81	MP0001485_abnormal_pinna_reflex	0.92406254
82	MP0001970_abnormal_pain_threshold	0.92146171
83	MP0005085_abnormal_gallbladder_physiolo	0.90963302
84	MP0003123_paternal_imprinting	0.90529476
85	MP0010386_abnormal_urinary_bladder	0.89622475
86	MP0005386_behavior/neurological_phenoty	0.89065929
87	MP0004924_abnormal_behavior	0.89065929
88	MP0002736_abnormal_nociception_after	0.88902182
89	MP0001188_hyperpigmentation	0.88216352
90	MP0002069_abnormal_eating/drinking_beha	0.87966184
91	MP0003953_abnormal_hormone_level	0.87093184
92	MP0004270_analgesia	0.86708795
93	MP0003718_maternal_effect	0.86323357
94	MP0003633_abnormal_nervous_system	0.85405236
95	MP0005389_reproductive_system_phenotype	0.84457804
96	MP0002090_abnormal_vision	0.83936397
97	MP0001929_abnormal_gametogenesis	0.83021800
98	MP0002653_abnormal_ependyma_morphology	0.82289171
99	MP0002063_abnormal_learning/memory/cond	0.81573387
100	MP0004145_abnormal_muscle_electrophysio	0.78622420

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	4.46402486
2	Abnormality of alanine metabolism (HP:0010916)	4.46402486
3	Hyperalaninemia (HP:0003348)	4.46402486
4	Medial flaring of the eyebrow (HP:0010747)	3.28218563
5	Constricted visual fields (HP:0001133)	3.25972422
6	Ketoacidosis (HP:0001993)	3.17515948
7	Hepatic necrosis (HP:0002605)	3.13706508
8	Tubulointerstitial nephritis (HP:0001970)	3.03535398
9	Methylmalonic acidemia (HP:0002912)	2.87955384
10	Generalized aminoaciduria (HP:0002909)	2.86704691
11	Mitochondrial inheritance (HP:0001427)	2.82170789
12	Pancreatic fibrosis (HP:0100732)	2.81678093
13	Hepatocellular necrosis (HP:0001404)	2.79609285
14	Congenital sensorineural hearing impairment (HP:0008527)	2.71409603
15	Acute necrotizing encephalopathy (HP:0006965)	2.69313791
16	Chronic hepatic failure (HP:0100626)	2.68621458
17	Hypoglycemic coma (HP:0001325)	2.67097260
18	Progressive macrocephaly (HP:0004481)	2.66883881
19	Hypothermia (HP:0002045)	2.66005608
20	Gait imbalance (HP:0002141)	2.64752959
21	Abnormal respiratory motile cilium morphology (HP:0005938)	2.62796126
22	Abnormal respiratory epithelium morphology (HP:0012253)	2.62796126
23	Nephronophthisis (HP:0000090)	2.61879840
24	Hypomagnesemia (HP:0002917)	2.61691602
25	Pancreatic cysts (HP:0001737)	2.58259654
26	Congenital primary aphakia (HP:0007707)	2.58208264
27	Increased CSF lactate (HP:0002490)	2.57111462
28	Nephrogenic diabetes insipidus (HP:0009806)	2.53708042
29	Hyperinsulinemic hypoglycemia (HP:0000825)	2.53244528
30	True hermaphroditism (HP:0010459)	2.52142537
31	Acute encephalopathy (HP:0006846)	2.48635561
32	Ketosis (HP:0001946)	2.47988203
33	Renal Fanconi syndrome (HP:0001994)	2.45280043
34	Abnormality of midbrain morphology (HP:0002418)	2.44729730
35	Molar tooth sign on MRI (HP:0002419)	2.44729730
36	Glycosuria (HP:0003076)	2.44696549
37	Abnormality of urine glucose concentration (HP:0011016)	2.44696549
38	Abnormal mitochondria in muscle tissue (HP:0008316)	2.44317933
39	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.34591853
40	Increased hepatocellular lipid droplets (HP:0006565)	2.34210158
41	Lipid accumulation in hepatocytes (HP:0006561)	2.30983304
42	Attenuation of retinal blood vessels (HP:0007843)	2.30947897
43	Abnormality of serum amino acid levels (HP:0003112)	2.30694348
44	Insulin-resistant diabetes mellitus (HP:0000831)	2.27701912
45	Lactic acidosis (HP:0003128)	2.27456415
46	Hypoglycemic seizures (HP:0002173)	2.27013073
47	Hyperglycinemia (HP:0002154)	2.24306033
48	Hyperglycemia (HP:0003074)	2.19774172
49	Increased serum lactate (HP:0002151)	2.19611225
50	Methylmalonic aciduria (HP:0012120)	2.16999131
51	Hyperphosphaturia (HP:0003109)	2.15892889
52	Abnormality of vitamin B metabolism (HP:0004340)	2.14596339
53	Abolished electroretinogram (ERG) (HP:0000550)	2.14046885
54	Abnormality of the renal cortex (HP:0011035)	2.11987106
55	Homocystinuria (HP:0002156)	2.11716241
56	Abnormality of homocysteine metabolism (HP:0010919)	2.11716241
57	Cerebral edema (HP:0002181)	2.11445313
58	Symptomatic seizures (HP:0011145)	2.10271119
59	Abnormality of the renal medulla (HP:0100957)	2.04644693
60	Abnormality of magnesium homeostasis (HP:0004921)	2.02232799
61	Large for gestational age (HP:0001520)	1.98151716
62	Renal cortical cysts (HP:0000803)	1.96325302
63	Agitation (HP:0000713)	1.95343835
64	Abnormality of aromatic amino acid family metabolism (HP:0004338)	1.95111305
65	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.94917820
66	Dicarboxylic aciduria (HP:0003215)	1.94917820
67	Thyroiditis (HP:0100646)	1.94130600
68	Abnormal drinking behavior (HP:0030082)	1.92883186
69	Polydipsia (HP:0001959)	1.92883186
70	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.91636453
71	Abnormality of endocrine pancreas physiology (HP:0012093)	1.90742730
72	Abnormality of the pancreatic islet cells (HP:0006476)	1.90742730
73	Lethargy (HP:0001254)	1.89713760
74	3-Methylglutaconic aciduria (HP:0003535)	1.87989599
75	Metabolic acidosis (HP:0001942)	1.87989070
76	Abnormality of fatty-acid metabolism (HP:0004359)	1.87613866
77	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.87591676
78	Absent/shortened dynein arms (HP:0200106)	1.87591676
79	Abnormal ciliary motility (HP:0012262)	1.87320718
80	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.83066502
81	Polyphagia (HP:0002591)	1.82866781
82	Genital tract atresia (HP:0001827)	1.81444791
83	Heterochromia iridis (HP:0001100)	1.80511828
84	Oligomenorrhea (HP:0000876)	1.80470232
85	Proximal tubulopathy (HP:0000114)	1.80326545
86	Increased intramyocellular lipid droplets (HP:0012240)	1.80110001
87	Muscular hypotonia of the trunk (HP:0008936)	1.78430552
88	Hemiparesis (HP:0001269)	1.76966943
89	Patchy hypopigmentation of hair (HP:0011365)	1.75339153
90	Metaphyseal dysplasia (HP:0100255)	1.74881294
91	Abnormality of renal resorption (HP:0011038)	1.72816077
92	White forelock (HP:0002211)	1.72308073
93	Vaginal atresia (HP:0000148)	1.71499210
94	Tetany (HP:0001281)	1.71210915
95	Aplasia/hypoplasia of the uterus (HP:0008684)	1.69590774
96	Tubulointerstitial abnormality (HP:0001969)	1.67727264
97	Bile duct proliferation (HP:0001408)	1.66292908
98	Abnormal biliary tract physiology (HP:0012439)	1.66292908
99	Abnormality of sulfur amino acid metabolism (HP:0004339)	1.65747500
100	Exercise intolerance (HP:0003546)	1.64351246

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.99072066
2	MAP4K2	4.15059214
3	TRIM28	2.77347022
4	ERBB3	2.16318404
5	BCKDK	2.14880514
6	PINK1	2.11350366
7	WNK3	2.05837833
8	ACVR1B	1.91125585
9	DAPK2	1.88006775
10	MAP3K4	1.85629336
11	PHKG2	1.81621749
12	PHKG1	1.81621749
13	FGFR2	1.77315357
14	EIF2AK3	1.73052615
15	NUAK1	1.71759087
16	GRK1	1.71283259
17	CAMKK2	1.71116731
18	NTRK3	1.67623327
19	ADRBK2	1.60617373
20	EPHA3	1.57249826
21	MST4	1.55747286
22	STK16	1.53979014
23	PRKD3	1.53479052
24	CSNK1G3	1.49122600
25	CSNK1G2	1.42524809
26	MAP2K7	1.39713119
27	TAOK3	1.32336032
28	VRK2	1.28295793
29	STK39	1.27806586
30	CSNK1G1	1.25002518
31	DYRK2	1.23716011
32	BCR	1.22486932
33	PAK3	1.21830557
34	MAPK13	1.21657084
35	PLK2	1.19977234
36	CCNB1	1.16278293
37	PRKCE	1.13794746
38	ZAK	1.13202083
39	OBSCN	1.10747109
40	PDK2	1.07594505
41	TLK1	1.07512699
42	FER	1.01890582
43	OXSR1	1.01734183
44	CSNK1A1L	0.99363943
45	WNK4	0.95912071
46	INSRR	0.95386131
47	CASK	0.93467879
48	BMPR1B	0.91817573
49	PRKCG	0.91776447
50	PASK	0.90445505
51	VRK1	0.90215893
52	TAF1	0.85849959
53	SGK2	0.82745989
54	SGK223	0.82112654
55	SGK494	0.82112654
56	BRSK2	0.81827474
57	MUSK	0.78786937
58	NTRK2	0.76802147
59	CDK9	0.74212171
60	DYRK3	0.72824543
61	TNK2	0.72799162
62	LIMK1	0.71544221
63	TEC	0.68967714
64	UHMK1	0.64693898
65	STK38L	0.63749182
66	PRKCI	0.62330032
67	PIM2	0.61228400
68	CSNK1A1	0.60584346
69	GRK7	0.58762342
70	TXK	0.57287498
71	RPS6KA5	0.53592520
72	MARK1	0.52692346
73	JAK3	0.51453512
74	MAP3K11	0.51442201
75	IKBKB	0.51342653
76	PRKAA2	0.50875692
77	GRK5	0.49818212
78	CAMK2A	0.49404070
79	MAP2K4	0.49394935
80	PRKAA1	0.48218083
81	CAMK2D	0.47348616
82	PRKACA	0.47115525
83	DYRK1B	0.46373635
84	AKT3	0.45851530
85	MAP3K12	0.45018294
86	PLK4	0.44933606
87	STK24	0.44901840
88	MAPK15	0.44511591
89	PRKCQ	0.43623750
90	LMTK2	0.41628443
91	STK11	0.39620905
92	MINK1	0.37863980
93	PLK3	0.36467315
94	DAPK1	0.36260767
95	TESK1	0.34888507
96	CDK5	0.34808737
97	ADRBK1	0.34625067
98	PTK2B	0.34593549
99	PRKCA	0.32422948
100	PRKG1	0.31749167

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	4.05618733
2	Oxidative phosphorylation_Homo sapiens_hsa00190	2.94147800
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.83412766
4	Butanoate metabolism_Homo sapiens_hsa00650	2.79522026
5	Sulfur metabolism_Homo sapiens_hsa00920	2.72839597
6	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.42734422
7	Collecting duct acid secretion_Homo sapiens_hsa04966	2.38165964
8	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.26989684
9	Propanoate metabolism_Homo sapiens_hsa00640	2.18296320
10	Parkinsons disease_Homo sapiens_hsa05012	2.17922348
11	Regulation of autophagy_Homo sapiens_hsa04140	2.17313714
12	Protein export_Homo sapiens_hsa03060	2.17074307
13	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.94493812
14	Peroxisome_Homo sapiens_hsa04146	1.86076851
15	Fatty acid elongation_Homo sapiens_hsa00062	1.62154029
16	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.53955395
17	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.49074526
18	GABAergic synapse_Homo sapiens_hsa04727	1.47146193
19	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.42897446
20	Alzheimers disease_Homo sapiens_hsa05010	1.38569040
21	Selenocompound metabolism_Homo sapiens_hsa00450	1.38263138
22	Nicotine addiction_Homo sapiens_hsa05033	1.37564268
23	Tryptophan metabolism_Homo sapiens_hsa00380	1.37495780
24	Huntingtons disease_Homo sapiens_hsa05016	1.36321116
25	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.32994444
26	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.31300282
27	Insulin secretion_Homo sapiens_hsa04911	1.30095251
28	Sulfur relay system_Homo sapiens_hsa04122	1.27582178
29	Arginine biosynthesis_Homo sapiens_hsa00220	1.27548034
30	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.23440914
31	Phototransduction_Homo sapiens_hsa04744	1.22631203
32	One carbon pool by folate_Homo sapiens_hsa00670	1.21918539
33	beta-Alanine metabolism_Homo sapiens_hsa00410	1.18168213
34	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.17834703
35	Linoleic acid metabolism_Homo sapiens_hsa00591	1.16856096
36	Basal transcription factors_Homo sapiens_hsa03022	1.14637480
37	Fatty acid metabolism_Homo sapiens_hsa01212	1.13788702
38	Morphine addiction_Homo sapiens_hsa05032	1.12526524
39	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.11462296
40	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.11333903
41	Proteasome_Homo sapiens_hsa03050	1.10114931
42	Ether lipid metabolism_Homo sapiens_hsa00565	1.07028269
43	Serotonergic synapse_Homo sapiens_hsa04726	1.03269801
44	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.02584472
45	Cardiac muscle contraction_Homo sapiens_hsa04260	1.01762079
46	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.01572764
47	Folate biosynthesis_Homo sapiens_hsa00790	1.00022529
48	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.98273919
49	RNA degradation_Homo sapiens_hsa03018	0.97141488
50	Nitrogen metabolism_Homo sapiens_hsa00910	0.94357654
51	Taste transduction_Homo sapiens_hsa04742	0.89157094
52	Fanconi anemia pathway_Homo sapiens_hsa03460	0.89055487
53	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.87816778
54	Retinol metabolism_Homo sapiens_hsa00830	0.86971288
55	Chemical carcinogenesis_Homo sapiens_hsa05204	0.86623772
56	Type I diabetes mellitus_Homo sapiens_hsa04940	0.85102222
57	Metabolic pathways_Homo sapiens_hsa01100	0.84538177
58	Fatty acid degradation_Homo sapiens_hsa00071	0.83658013
59	Circadian entrainment_Homo sapiens_hsa04713	0.83331050
60	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.82956698
61	Steroid biosynthesis_Homo sapiens_hsa00100	0.82440458
62	Glutamatergic synapse_Homo sapiens_hsa04724	0.81416262
63	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.80539293
64	Pyruvate metabolism_Homo sapiens_hsa00620	0.78670792
65	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.78564331
66	Dopaminergic synapse_Homo sapiens_hsa04728	0.76676081
67	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.75912627
68	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.75604553
69	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.73409767
70	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.73349829
71	Arginine and proline metabolism_Homo sapiens_hsa00330	0.71089007
72	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.70364280
73	Vibrio cholerae infection_Homo sapiens_hsa05110	0.69180480
74	Olfactory transduction_Homo sapiens_hsa04740	0.68125199
75	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.66335590
76	Homologous recombination_Homo sapiens_hsa03440	0.66157214
77	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.63581790
78	Glutathione metabolism_Homo sapiens_hsa00480	0.63525820
79	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.61500862
80	ABC transporters_Homo sapiens_hsa02010	0.61138171
81	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.59109346
82	Phenylalanine metabolism_Homo sapiens_hsa00360	0.58981326
83	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.58739209
84	Circadian rhythm_Homo sapiens_hsa04710	0.58611017
85	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.58328005
86	RNA polymerase_Homo sapiens_hsa03020	0.56532165
87	Caffeine metabolism_Homo sapiens_hsa00232	0.55896515
88	Tyrosine metabolism_Homo sapiens_hsa00350	0.54456143
89	Purine metabolism_Homo sapiens_hsa00230	0.54432635
90	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.51774158
91	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.51129720
92	Histidine metabolism_Homo sapiens_hsa00340	0.51041795
93	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.50776978
94	Renin secretion_Homo sapiens_hsa04924	0.49919166
95	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.47576647
96	Carbon metabolism_Homo sapiens_hsa01200	0.46841398
97	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.45717750
98	Type II diabetes mellitus_Homo sapiens_hsa04930	0.45096222
99	Amphetamine addiction_Homo sapiens_hsa05031	0.40154585
100	Non-homologous end-joining_Homo sapiens_hsa03450	0.33666118

C11ORF71

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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