ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	UDP-N-acetylglucosamine metabolic process (GO:0006047)	8.14617033
2	positive regulation of glycoprotein biosynthetic process (GO:0010560)	6.52015168
3	heparin biosynthetic process (GO:0030210)	6.27153268
4	heparin metabolic process (GO:0030202)	6.27153268
5	negative regulation of keratinocyte proliferation (GO:0010839)	5.83180030
6	positive regulation of glycoprotein metabolic process (GO:1903020)	5.39775883
7	energy homeostasis (GO:0097009)	5.21045062
8	nucleotide-sugar biosynthetic process (GO:0009226)	4.88535949
9	misfolded or incompletely synthesized protein catabolic process (GO:0006515)	4.51713605
10	regulation of establishment of cell polarity (GO:2000114)	4.48551263
11	Golgi to endosome transport (GO:0006895)	4.45575205
12	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	4.41867564
13	epithelial cilium movement (GO:0003351)	4.37167975
14	regulation of cilium movement (GO:0003352)	4.31344303
15	cilium movement (GO:0003341)	4.30623176
16	interkinetic nuclear migration (GO:0022027)	4.18843986
17	autophagic vacuole fusion (GO:0000046)	4.08393065
18	cytochrome complex assembly (GO:0017004)	4.08305127
19	negative regulation of Ras GTPase activity (GO:0034261)	4.06222897
20	platelet dense granule organization (GO:0060155)	4.05934706
21	negative regulation of activin receptor signaling pathway (GO:0032926)	4.03886931
22	regulation of mesoderm development (GO:2000380)	4.02236979
23	very-low-density lipoprotein particle assembly (GO:0034379)	3.93563801
24	cell migration involved in gastrulation (GO:0042074)	3.88084614
25	regulation of establishment or maintenance of cell polarity (GO:0032878)	3.84904118
26	respiratory chain complex IV assembly (GO:0008535)	3.82167649
27	dentate gyrus development (GO:0021542)	3.76475401
28	regulation of protein glycosylation (GO:0060049)	3.76410296
29	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.73913193
30	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.73913193
31	NADH dehydrogenase complex assembly (GO:0010257)	3.73913193
32	mitochondrial respiratory chain complex assembly (GO:0033108)	3.72232112
33	protein complex biogenesis (GO:0070271)	3.70545008
34	sperm capacitation (GO:0048240)	3.66379346
35	artery smooth muscle contraction (GO:0014824)	3.65897511
36	intestinal epithelial cell development (GO:0060576)	3.63184764
37	inner mitochondrial membrane organization (GO:0007007)	3.62456770
38	dolichol-linked oligosaccharide biosynthetic process (GO:0006488)	3.59137188
39	organelle membrane fusion (GO:0090174)	3.58071162
40	nucleotide-sugar metabolic process (GO:0009225)	3.49780499
41	tonic smooth muscle contraction (GO:0014820)	3.48800739
42	arginine catabolic process (GO:0006527)	3.47501106
43	nodal signaling pathway (GO:0038092)	3.47036397
44	negative regulation of bone resorption (GO:0045779)	3.46210299
45	oxidative demethylation (GO:0070989)	3.44155843
46	activation of Rac GTPase activity (GO:0032863)	3.42892720
47	acrosome assembly (GO:0001675)	3.41822915
48	intra-Golgi vesicle-mediated transport (GO:0006891)	3.39843487
49	tachykinin receptor signaling pathway (GO:0007217)	3.36960466
50	dopamine transport (GO:0015872)	3.35547393
51	amino-acid betaine transport (GO:0015838)	3.34381539
52	carnitine transport (GO:0015879)	3.34381539
53	keratinocyte development (GO:0003334)	3.33229856
54	regulation of keratinocyte proliferation (GO:0010837)	3.31174891
55	striatum development (GO:0021756)	3.22860313
56	sequestering of extracellular ligand from receptor (GO:0035581)	3.20119045
57	catecholamine transport (GO:0051937)	3.17344161
58	transcytosis (GO:0045056)	3.14250794
59	signal transduction involved in regulation of gene expression (GO:0023019)	3.11227324
60	glycerophospholipid catabolic process (GO:0046475)	3.08730484
61	regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)	3.07897613
62	positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)	3.07897613
63	branched-chain amino acid catabolic process (GO:0009083)	3.07225645
64	carnitine shuttle (GO:0006853)	3.06597877
65	fatty acid transmembrane transport (GO:1902001)	3.04735283
66	retinal rod cell development (GO:0046548)	3.04554834
67	glucosamine-containing compound metabolic process (GO:1901071)	3.02605964
68	embryonic process involved in female pregnancy (GO:0060136)	3.02597457
69	transcription from mitochondrial promoter (GO:0006390)	3.00381848
70	wound healing, spreading of epidermal cells (GO:0035313)	2.99124758
71	cullin deneddylation (GO:0010388)	2.98822064
72	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.97813396
73	regulation of translation, ncRNA-mediated (GO:0045974)	2.97813396
74	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.97813396
75	fructose metabolic process (GO:0006000)	2.91305027
76	regulation of non-canonical Wnt signaling pathway (GO:2000050)	2.88752976
77	protein localization to Golgi apparatus (GO:0034067)	2.88459835
78	regulation of Rac protein signal transduction (GO:0035020)	2.86219222
79	regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)	2.85865133
80	positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO	2.85865133
81	heparan sulfate proteoglycan biosynthetic process (GO:0015012)	2.85569787
82	mannosylation (GO:0097502)	2.84692296
83	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.84485638
84	developmental pigmentation (GO:0048066)	2.80759476
85	L-ascorbic acid metabolic process (GO:0019852)	2.80637803
86	toxin metabolic process (GO:0009404)	2.79951286
87	S-adenosylmethionine metabolic process (GO:0046500)	2.79832029
88	kidney morphogenesis (GO:0060993)	2.79544872
89	lysine metabolic process (GO:0006553)	2.79070321
90	lysine catabolic process (GO:0006554)	2.79070321
91	monoubiquitinated protein deubiquitination (GO:0035520)	2.78997288
92	blood vessel maturation (GO:0001955)	2.78746113
93	ovulation cycle (GO:0042698)	2.77578139
94	negative regulation of bone remodeling (GO:0046851)	2.77138430
95	phasic smooth muscle contraction (GO:0014821)	2.76313485
96	amino sugar metabolic process (GO:0006040)	2.74223660
97	vascular smooth muscle contraction (GO:0014829)	2.73652207
98	pigmentation (GO:0043473)	2.72777518
99	phenylpropanoid metabolic process (GO:0009698)	2.71818291
100	Golgi organization (GO:0007030)	2.69480411

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.38058446
2	SALL1_21062744_ChIP-ChIP_HESCs_Human	4.29147945
3	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.83179309
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.68725357
5	VDR_22108803_ChIP-Seq_LS180_Human	2.68523922
6	ZNF274_21170338_ChIP-Seq_K562_Hela	2.67399033
7	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.55541319
8	FUS_26573619_Chip-Seq_HEK293_Human	2.34989789
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.28505852
10	ER_23166858_ChIP-Seq_MCF-7_Human	2.19064980
11	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.17990474
12	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.17133487
13	BCAT_22108803_ChIP-Seq_LS180_Human	2.11867748
14	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	2.09258753
15	P300_19829295_ChIP-Seq_ESCs_Human	2.06736755
16	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.99651997
17	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.94070692
18	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.75031348
19	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.72301758
20	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.70755177
21	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.67645422
22	STAT3_23295773_ChIP-Seq_U87_Human	1.66785124
23	EWS_26573619_Chip-Seq_HEK293_Human	1.62321279
24	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.60840256
25	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.60471578
26	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.59516330
27	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.58735104
28	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.58126845
29	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.58126845
30	SMAD4_21799915_ChIP-Seq_A2780_Human	1.53316457
31	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.53148166
32	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.52087454
33	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.51926546
34	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.50325004
35	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.50173568
36	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.47374893
37	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.46199080
38	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.44278184
39	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.41383500
40	CBP_20019798_ChIP-Seq_JUKART_Human	1.41383500
41	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.39104076
42	TCF4_22108803_ChIP-Seq_LS180_Human	1.37549466
43	AR_25329375_ChIP-Seq_VCAP_Human	1.36758044
44	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	1.35985185
45	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.35914766
46	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.35109043
47	AHR_22903824_ChIP-Seq_MCF-7_Human	1.34945676
48	TCF4_23295773_ChIP-Seq_U87_Human	1.34484969
49	ELK1_19687146_ChIP-ChIP_HELA_Human	1.34477589
50	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.34138368
51	IGF1R_20145208_ChIP-Seq_DFB_Human	1.32778858
52	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.32462583
53	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.31850799
54	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.31219721
55	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.30265457
56	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.29878340
57	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.29641815
58	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.27584097
59	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.27219948
60	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.27210912
61	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.26364011
62	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.25967844
63	NANOG_19829295_ChIP-Seq_ESCs_Human	1.23618570
64	SOX2_19829295_ChIP-Seq_ESCs_Human	1.23618570
65	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.22532000
66	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.21979335
67	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.20909470
68	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.19488961
69	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.19306392
70	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.18423333
71	P53_22387025_ChIP-Seq_ESCs_Mouse	1.15847099
72	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.15757181
73	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.15510029
74	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.14483581
75	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.12792004
76	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.11693421
77	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.10866152
78	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.10567782
79	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.10255131
80	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.09763837
81	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.08631304
82	TBL1_22424771_ChIP-Seq_293T_Human	1.07469004
83	CDX2_22108803_ChIP-Seq_LS180_Human	1.05184826
84	P300_18555785_Chip-Seq_ESCs_Mouse	1.04857273
85	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.04078157
86	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.01841717
87	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.00916962
88	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.00226738
89	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.98621163
90	OCT4_18555785_Chip-Seq_ESCs_Mouse	0.98615171
91	SMAD3_21741376_ChIP-Seq_ESCs_Human	0.98392531
92	SUZ12_18555785_Chip-Seq_ESCs_Mouse	0.97381138
93	TP53_22573176_ChIP-Seq_HFKS_Human	0.97339575
94	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	0.97261852
95	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	0.96902880
96	NOTCH1_21737748_ChIP-Seq_TLL_Human	0.95940530
97	FOXM1_26456572_ChIP-Seq_MCF-7_Human	0.95858272
98	PHF8_20622853_ChIP-Seq_HELA_Human	0.95448573
99	RNF2_27304074_Chip-Seq_NSC_Mouse	0.94517264
100	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	0.94231770

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	6.73680371
2	MP0006054_spinal_hemorrhage	6.24546248
3	MP0000566_synostosis	5.57524440
4	MP0002938_white_spotting	5.47289020
5	MP0003787_abnormal_imprinting	2.94599322
6	MP0008995_early_reproductive_senescence	2.89283736
7	MP0001984_abnormal_olfaction	2.62414356
8	MP0005075_abnormal_melanosome_morpholog	2.59905331
9	MP0005171_absent_coat_pigmentation	2.55486133
10	MP0003868_abnormal_feces_composition	2.55327567
11	MP0005174_abnormal_tail_pigmentation	2.47819850
12	MP0005310_abnormal_salivary_gland	2.24048335
13	MP0000613_abnormal_salivary_gland	2.15211017
14	MP0002638_abnormal_pupillary_reflex	2.06623318
15	MP0002254_reproductive_system_inflammat	2.01724608
16	MP0000647_abnormal_sebaceous_gland	1.90901428
17	MP0006292_abnormal_olfactory_placode	1.81472095
18	MP0008877_abnormal_DNA_methylation	1.77742634
19	MP0001986_abnormal_taste_sensitivity	1.76856497
20	MP0005220_abnormal_exocrine_pancreas	1.72637818
21	MP0005187_abnormal_penis_morphology	1.70225097
22	MP0002168_other_aberrant_phenotype	1.70135644
23	MP0003806_abnormal_nucleotide_metabolis	1.61350519
24	MP0008875_abnormal_xenobiotic_pharmacok	1.58124363
25	MP0004133_heterotaxia	1.49734001
26	MP0005083_abnormal_biliary_tract	1.47051976
27	MP0008789_abnormal_olfactory_epithelium	1.44814736
28	MP0005394_taste/olfaction_phenotype	1.39398041
29	MP0005499_abnormal_olfactory_system	1.39398041
30	MP0003937_abnormal_limbs/digits/tail_de	1.31851386
31	MP0010030_abnormal_orbit_morphology	1.31590750
32	MP0005551_abnormal_eye_electrophysiolog	1.27260599
33	MP0004185_abnormal_adipocyte_glucose	1.25680760
34	MP0000015_abnormal_ear_pigmentation	1.23737496
35	MP0002095_abnormal_skin_pigmentation	1.23277847
36	MP0003938_abnormal_ear_development	1.22026973
37	MP0003121_genomic_imprinting	1.21904560
38	MP0001764_abnormal_homeostasis	1.21087461
39	MP0005395_other_phenotype	1.17400310
40	MP0000383_abnormal_hair_follicle	1.16625809
41	MP0001324_abnormal_eye_pigmentation	1.16035264
42	MP0001346_abnormal_lacrimal_gland	1.14588866
43	MP0000427_abnormal_hair_cycle	1.13481945
44	MP0002751_abnormal_autonomic_nervous	1.13083207
45	MP0003646_muscle_fatigue	1.11547832
46	MP0004134_abnormal_chest_morphology	1.02518719
47	MP0002163_abnormal_gland_morphology	1.01675521
48	MP0004381_abnormal_hair_follicle	1.01405274
49	MP0005645_abnormal_hypothalamus_physiol	1.00960132
50	MP0003119_abnormal_digestive_system	1.00881495
51	MP0003786_premature_aging	0.98526330
52	MP0004885_abnormal_endolymph	0.95581101
53	MP0002075_abnormal_coat/hair_pigmentati	0.94626377
54	MP0003123_paternal_imprinting	0.92642779
55	MP0003890_abnormal_embryonic-extraembry	0.92583723
56	MP0001968_abnormal_touch/_nociception	0.89681690
57	MP0003195_calcinosis	0.88970209
58	MP0005253_abnormal_eye_physiology	0.87103294
59	MP0006035_abnormal_mitochondrial_morpho	0.85476482
60	MP0003315_abnormal_perineum_morphology	0.84378656
61	MP0002111_abnormal_tail_morphology	0.83371967
62	MP0010329_abnormal_lipoprotein_level	0.80764982
63	MP0002233_abnormal_nose_morphology	0.79074594
64	MP0001485_abnormal_pinna_reflex	0.76915834
65	MP0010307_abnormal_tumor_latency	0.73955443
66	MP0001293_anophthalmia	0.73903129
67	MP0005360_urolithiasis	0.73184708
68	MP0002557_abnormal_social/conspecific_i	0.71419403
69	MP0001879_abnormal_lymphatic_vessel	0.71403643
70	MP0001119_abnormal_female_reproductive	0.70685339
71	MP0005197_abnormal_uvea_morphology	0.68981126
72	MP0003045_fibrosis	0.67817024
73	MP0001929_abnormal_gametogenesis	0.67436035
74	MP0003698_abnormal_male_reproductive	0.66774262
75	MP0001486_abnormal_startle_reflex	0.66458143
76	MP0010678_abnormal_skin_adnexa	0.65951050
77	MP0005332_abnormal_amino_acid	0.64669788
78	MP0005647_abnormal_sex_gland	0.62497926
79	MP0003718_maternal_effect	0.61891104
80	MP0001286_abnormal_eye_development	0.61365888
81	MP0003755_abnormal_palate_morphology	0.59506006
82	MP0004019_abnormal_vitamin_homeostasis	0.57517858
83	MP0009703_decreased_birth_body	0.56984259
84	MP0008004_abnormal_stomach_pH	0.55879743
85	MP0000026_abnormal_inner_ear	0.55596339
86	MP0005410_abnormal_fertilization	0.54778509
87	MP0002138_abnormal_hepatobiliary_system	0.53377308
88	MP0005666_abnormal_adipose_tissue	0.53058143
89	MP0005448_abnormal_energy_balance	0.53039743
90	MP0003633_abnormal_nervous_system	0.51038324
91	MP0002108_abnormal_muscle_morphology	0.48774168
92	MP0010368_abnormal_lymphatic_system	0.45239899
93	MP0000428_abnormal_craniofacial_morphol	0.44973401
94	MP0005376_homeostasis/metabolism_phenot	0.42832639
95	MP0002109_abnormal_limb_morphology	0.42353666
96	MP0002735_abnormal_chemical_nociception	0.41483270
97	MP0000653_abnormal_sex_gland	0.41346102
98	MP0001944_abnormal_pancreas_morphology	0.41117510
99	MP0001873_stomach_inflammation	0.40430836
100	MP0003941_abnormal_skin_development	0.40050590

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Nuclear cataract (HP:0100018)	8.77262179
2	Abnormality of the parathyroid morphology (HP:0011766)	4.52545585
3	Intestinal atresia (HP:0011100)	4.30307261
4	Aqueductal stenosis (HP:0002410)	4.13469065
5	Zonular cataract (HP:0010920)	3.99509285
6	Esophageal atresia (HP:0002032)	3.89349641
7	Congenital stationary night blindness (HP:0007642)	3.59051271
8	Patchy hypopigmentation of hair (HP:0011365)	3.37295205
9	Hepatocellular necrosis (HP:0001404)	3.36593254
10	Abnormality of the nasal septum (HP:0000419)	3.33368749
11	Atonic seizures (HP:0010819)	3.28954462
12	Oligodactyly (hands) (HP:0001180)	3.27205926
13	Rhinitis (HP:0012384)	3.23107762
14	Hypothermia (HP:0002045)	3.08903718
15	Febrile seizures (HP:0002373)	2.98716011
16	Chin dimple (HP:0010751)	2.91711024
17	White forelock (HP:0002211)	2.89853784
18	Congenital malformation of the right heart (HP:0011723)	2.84305487
19	Double outlet right ventricle (HP:0001719)	2.84305487
20	Hepatic necrosis (HP:0002605)	2.84224233
21	Microvesicular hepatic steatosis (HP:0001414)	2.84075527
22	Gastrointestinal atresia (HP:0002589)	2.64685402
23	Disproportionate short-trunk short stature (HP:0003521)	2.64102603
24	Rib fusion (HP:0000902)	2.63604920
25	Barrel-shaped chest (HP:0001552)	2.55094427
26	Glomerulonephritis (HP:0000099)	2.51712936
27	Acute necrotizing encephalopathy (HP:0006965)	2.50271952
28	Medial flaring of the eyebrow (HP:0010747)	2.48602450
29	Recurrent corneal erosions (HP:0000495)	2.44957760
30	Abnormal pancreas size (HP:0012094)	2.43880718
31	Dyschromatopsia (HP:0007641)	2.43683168
32	Abnormal rod and cone electroretinograms (HP:0008323)	2.42589875
33	Type II lissencephaly (HP:0007260)	2.39887355
34	Labial hypoplasia (HP:0000066)	2.38751538
35	Absent speech (HP:0001344)	2.37545976
36	Cerebellar dysplasia (HP:0007033)	2.36468358
37	Congenital primary aphakia (HP:0007707)	2.35859679
38	Progressive inability to walk (HP:0002505)	2.33026627
39	Hemivertebrae (HP:0002937)	2.27261179
40	Gait imbalance (HP:0002141)	2.25302154
41	Dysdiadochokinesis (HP:0002075)	2.25144984
42	Dialeptic seizures (HP:0011146)	2.23764718
43	Progressive macrocephaly (HP:0004481)	2.23742808
44	Hyperventilation (HP:0002883)	2.22359652
45	3-Methylglutaconic aciduria (HP:0003535)	2.22097697
46	Anal stenosis (HP:0002025)	2.21300497
47	Genetic anticipation (HP:0003743)	2.17270131
48	Heterochromia iridis (HP:0001100)	2.16852930
49	Oligodactyly (HP:0012165)	2.13929869
50	Hypoplastic female external genitalia (HP:0012815)	2.10976788
51	Abnormal ciliary motility (HP:0012262)	2.10737115
52	Absence seizures (HP:0002121)	2.10441629
53	Blue irides (HP:0000635)	2.09750763
54	Depressed nasal tip (HP:0000437)	2.09730353
55	Delayed puberty (HP:0000823)	2.07615496
56	Anterior segment dysgenesis (HP:0007700)	2.02933006
57	CNS demyelination (HP:0007305)	2.02777258
58	Abnormal mitochondria in muscle tissue (HP:0008316)	2.02612198
59	Vaginal atresia (HP:0000148)	2.00575793
60	Genital tract atresia (HP:0001827)	1.98553276
61	Deep palmar crease (HP:0006191)	1.97570723
62	Broad-based gait (HP:0002136)	1.97140678
63	Mutism (HP:0002300)	1.95056039
64	Growth hormone deficiency (HP:0000824)	1.94643700
65	Abnormality of the labia (HP:0000058)	1.94214024
66	Increased CSF lactate (HP:0002490)	1.90609014
67	Mitochondrial inheritance (HP:0001427)	1.90549603
68	Asthma (HP:0002099)	1.89713123
69	Abnormality of the pons (HP:0007361)	1.88414269
70	Nephrogenic diabetes insipidus (HP:0009806)	1.88280580
71	Neoplasm of the adrenal cortex (HP:0100641)	1.87588808
72	Acute encephalopathy (HP:0006846)	1.87563479
73	Abnormal respiratory epithelium morphology (HP:0012253)	1.86603651
74	Abnormal respiratory motile cilium morphology (HP:0005938)	1.86603651
75	Abnormal glycosylation (HP:0012345)	1.86386178
76	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.86386178
77	Abnormal protein N-linked glycosylation (HP:0012347)	1.86386178
78	Abnormal protein glycosylation (HP:0012346)	1.86386178
79	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.86095142
80	Abnormality of alanine metabolism (HP:0010916)	1.86095142
81	Hyperalaninemia (HP:0003348)	1.86095142
82	Metaphyseal dysplasia (HP:0100255)	1.85237460
83	Failure to thrive in infancy (HP:0001531)	1.85166659
84	Hypoplasia of the pons (HP:0012110)	1.84944248
85	Abnormality of cochlea (HP:0000375)	1.83348248
86	Decreased lacrimation (HP:0000633)	1.82767978
87	Proximal tubulopathy (HP:0000114)	1.81435999
88	Thyroiditis (HP:0100646)	1.81245569
89	Poor coordination (HP:0002370)	1.80880855
90	Constricted visual fields (HP:0001133)	1.80428748
91	Narrow forehead (HP:0000341)	1.79694061
92	Widely spaced teeth (HP:0000687)	1.79428403
93	Increased serum pyruvate (HP:0003542)	1.79067809
94	Optic disc pallor (HP:0000543)	1.78016800
95	Abnormality of abdominal situs (HP:0011620)	1.77515448
96	Abdominal situs inversus (HP:0003363)	1.77515448
97	Gaze-evoked nystagmus (HP:0000640)	1.75291000
98	Down-sloping shoulders (HP:0200021)	1.74786758
99	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.74351574
100	Abnormality of midbrain morphology (HP:0002418)	1.74337909

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	CASK	7.70362198
2	FRK	4.49944599
3	NEK9	2.78996755
4	ERBB4	2.77421754
5	GRK1	2.52427108
6	OXSR1	2.43632598
7	MKNK2	2.42996730
8	PBK	2.27526627
9	STK38L	2.20303604
10	NUAK1	2.12648512
11	STK24	2.07759203
12	BMPR1B	1.98050315
13	TRIM28	1.86801250
14	PAK3	1.81542528
15	TLK1	1.76612109
16	WNK4	1.72962419
17	STK39	1.72790457
18	SRPK1	1.67969610
19	PDK2	1.67665273
20	CDK19	1.55883596
21	PTK2B	1.55687274
22	MKNK1	1.49787657
23	ACVR1B	1.42729808
24	KSR1	1.40334872
25	MAP4K2	1.32809246
26	LATS1	1.22384132
27	ADRBK2	1.19479696
28	PRKCE	1.11143899
29	FGFR3	1.01410285
30	CHUK	1.00956669
31	MARK3	0.95807748
32	PIK3CG	0.94909883
33	STK3	0.91769926
34	PRKAA2	0.91102114
35	SGK2	0.87658691
36	MAPK13	0.86088679
37	WNK3	0.85137829
38	FGFR2	0.81997922
39	CAMK1G	0.81879800
40	AKT3	0.78930171
41	OBSCN	0.78639343
42	ZAK	0.73984647
43	SIK3	0.73119873
44	STK11	0.71213296
45	INSRR	0.69199488
46	SGK3	0.69025972
47	EIF2AK3	0.67719463
48	IKBKB	0.65476427
49	TSSK6	0.65351849
50	SCYL2	0.65101295
51	EGFR	0.61908117
52	CAMK1D	0.61899079
53	CSNK1G1	0.61455792
54	PINK1	0.61424137
55	PRKCI	0.60224417
56	TGFBR1	0.58370722
57	ERBB2	0.58101620
58	TEC	0.58001763
59	ROCK1	0.53261923
60	CSNK1G2	0.52909346
61	SGK494	0.52346642
62	SGK223	0.52346642
63	IRAK1	0.52177824
64	BRD4	0.50126709
65	FER	0.49341285
66	BCR	0.49212863
67	DYRK1A	0.47375144
68	PKN1	0.47290815
69	TXK	0.47006253
70	CSNK1G3	0.46465664
71	EPHB2	0.46260580
72	KIT	0.45373142
73	PRKDC	0.43655926
74	CDC42BPA	0.43628169
75	PLK2	0.43405232
76	CSNK1D	0.42039480
77	PRKAA1	0.41498439
78	CDK12	0.41299696
79	PRKCG	0.41245336
80	ADRBK1	0.41240615
81	NLK	0.40913502
82	PIM1	0.39139029
83	BLK	0.38173560
84	TNIK	0.37361689
85	FGFR1	0.37295397
86	RPS6KA4	0.37142789
87	WNK1	0.36919660
88	MAP3K4	0.35834853
89	HIPK2	0.35360155
90	PRKG1	0.32277976
91	MAP3K13	0.32236426
92	CSNK1A1	0.31900072
93	GSK3B	0.31795967
94	FES	0.31188981
95	PRKCZ	0.30021229
96	INSR	0.29177798
97	MAP3K2	0.28155015
98	CSNK1E	0.27719265
99	BRSK2	0.27484300
100	EPHA3	0.27353495

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	4.87449787
2	Propanoate metabolism_Homo sapiens_hsa00640	3.07105432
3	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.05410150
4	Protein export_Homo sapiens_hsa03060	2.99339565
5	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	2.81752867
6	Phototransduction_Homo sapiens_hsa04744	2.53631263
7	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	2.36904063
8	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.15100563
9	Pyruvate metabolism_Homo sapiens_hsa00620	2.02893848
10	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.97663685
11	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.90407495
12	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.88621385
13	Nitrogen metabolism_Homo sapiens_hsa00910	1.84663303
14	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.81762984
15	Circadian rhythm_Homo sapiens_hsa04710	1.76486096
16	Lysine degradation_Homo sapiens_hsa00310	1.75362819
17	Peroxisome_Homo sapiens_hsa04146	1.72513014
18	Sulfur metabolism_Homo sapiens_hsa00920	1.70195505
19	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.69867553
20	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.69484737
21	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.64085640
22	Fanconi anemia pathway_Homo sapiens_hsa03460	1.59609824
23	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.52093555
24	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.52025466
25	Taste transduction_Homo sapiens_hsa04742	1.44228089
26	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.40732143
27	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.39050458
28	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.38015473
29	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.30654701
30	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	1.24085912
31	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.15678858
32	ABC transporters_Homo sapiens_hsa02010	1.13041177
33	Cocaine addiction_Homo sapiens_hsa05030	1.12394674
34	Non-homologous end-joining_Homo sapiens_hsa03450	1.10880316
35	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.09978350
36	Legionellosis_Homo sapiens_hsa05134	1.09203848
37	RNA transport_Homo sapiens_hsa03013	1.07282465
38	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.06131536
39	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.04227871
40	Linoleic acid metabolism_Homo sapiens_hsa00591	1.02271088
41	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.96550781
42	Selenocompound metabolism_Homo sapiens_hsa00450	0.94452088
43	Morphine addiction_Homo sapiens_hsa05032	0.90115696
44	Homologous recombination_Homo sapiens_hsa03440	0.88698203
45	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.88571188
46	Calcium signaling pathway_Homo sapiens_hsa04020	0.88259576
47	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.83960289
48	Butanoate metabolism_Homo sapiens_hsa00650	0.82719849
49	p53 signaling pathway_Homo sapiens_hsa04115	0.79372166
50	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.78899727
51	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.78809260
52	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.76890185
53	Basal transcription factors_Homo sapiens_hsa03022	0.75780267
54	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.75181098
55	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.74319611
56	Serotonergic synapse_Homo sapiens_hsa04726	0.72995523
57	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.71448492
58	One carbon pool by folate_Homo sapiens_hsa00670	0.71083438
59	Other glycan degradation_Homo sapiens_hsa00511	0.70287561
60	Ether lipid metabolism_Homo sapiens_hsa00565	0.67699498
61	Steroid biosynthesis_Homo sapiens_hsa00100	0.66728676
62	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.66577431
63	beta-Alanine metabolism_Homo sapiens_hsa00410	0.65816409
64	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.65149659
65	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.64467777
66	Nicotine addiction_Homo sapiens_hsa05033	0.64015964
67	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.63770497
68	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.63610699
69	Olfactory transduction_Homo sapiens_hsa04740	0.61671972
70	Glutathione metabolism_Homo sapiens_hsa00480	0.61614116
71	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.61142913
72	Proteasome_Homo sapiens_hsa03050	0.60809176
73	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.60527675
74	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.55153651
75	Glycerolipid metabolism_Homo sapiens_hsa00561	0.54619337
76	Prostate cancer_Homo sapiens_hsa05215	0.52726378
77	Salivary secretion_Homo sapiens_hsa04970	0.51007615
78	Glucagon signaling pathway_Homo sapiens_hsa04922	0.50844079
79	Circadian entrainment_Homo sapiens_hsa04713	0.50350272
80	Dopaminergic synapse_Homo sapiens_hsa04728	0.50346756
81	Insulin secretion_Homo sapiens_hsa04911	0.49593586
82	Fatty acid degradation_Homo sapiens_hsa00071	0.48367207
83	Alcoholism_Homo sapiens_hsa05034	0.46716148
84	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.43745699
85	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.42581060
86	Fatty acid metabolism_Homo sapiens_hsa01212	0.42069071
87	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.41707462
88	Insulin resistance_Homo sapiens_hsa04931	0.41550961
89	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.40871902
90	Tryptophan metabolism_Homo sapiens_hsa00380	0.40189566
91	Regulation of autophagy_Homo sapiens_hsa04140	0.39278552
92	Renin secretion_Homo sapiens_hsa04924	0.39125372
93	PPAR signaling pathway_Homo sapiens_hsa03320	0.35042687
94	Ras signaling pathway_Homo sapiens_hsa04014	0.33193663
95	Carbon metabolism_Homo sapiens_hsa01200	0.33056750
96	Metabolic pathways_Homo sapiens_hsa01100	0.32813350
97	Amphetamine addiction_Homo sapiens_hsa05031	0.32001964
98	Nucleotide excision repair_Homo sapiens_hsa03420	0.31670293
99	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.30133166
100	Chemical carcinogenesis_Homo sapiens_hsa05204	0.29803726

ATP6V0E1P1

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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