ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	protein K11-linked deubiquitination (GO:0035871)	9.64636642
2	regulation of acrosome reaction (GO:0060046)	8.30273297
3	regulation of female gonad development (GO:2000194)	8.15470920
4	multicellular organism reproduction (GO:0032504)	7.18121475
5	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	6.99122916
6	piRNA metabolic process (GO:0034587)	6.69737547
7	meiotic cell cycle (GO:0051321)	6.54466717
8	regulation of retinoic acid receptor signaling pathway (GO:0048385)	6.11010481
9	regulation of DNA methylation (GO:0044030)	5.85038897
10	DNA methylation involved in gamete generation (GO:0043046)	5.47656716
11	oocyte development (GO:0048599)	5.35087135
12	negative regulation of circadian rhythm (GO:0042754)	5.15276927
13	negative regulation of interleukin-8 production (GO:0032717)	5.14613746
14	retinal cone cell development (GO:0046549)	5.10372092
15	serotonin receptor signaling pathway (GO:0007210)	5.02755631
16	glycine transport (GO:0015816)	4.94308311
17	reproduction (GO:0000003)	4.88218465
18	cilium or flagellum-dependent cell motility (GO:0001539)	4.84073324
19	granulocyte differentiation (GO:0030851)	4.82841409
20	protein K48-linked deubiquitination (GO:0071108)	4.72659114
21	protein kinase C signaling (GO:0070528)	4.72562460
22	female gamete generation (GO:0007292)	4.66856205
23	regulation of meiosis I (GO:0060631)	4.58531214
24	regulation of steroid hormone biosynthetic process (GO:0090030)	4.57065685
25	negative regulation of reproductive process (GO:2000242)	4.23906665
26	protein K63-linked deubiquitination (GO:0070536)	4.23016565
27	regulation of histone H3-K9 methylation (GO:0051570)	4.22867367
28	regulation of phospholipid biosynthetic process (GO:0071071)	4.22717466
29	regulation of hypersensitivity (GO:0002883)	4.09654149
30	nuclear pore organization (GO:0006999)	4.05096298
31	positive regulation of osteoblast proliferation (GO:0033690)	4.02588317
32	single fertilization (GO:0007338)	3.99735593
33	negative regulation of hormone biosynthetic process (GO:0032353)	3.92892152
34	fertilization (GO:0009566)	3.88816509
35	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	3.88262126
36	synapsis (GO:0007129)	3.87418501
37	positive regulation of hair cycle (GO:0042635)	3.87301580
38	positive regulation of hair follicle development (GO:0051798)	3.87301580
39	meiotic chromosome segregation (GO:0045132)	3.86676747
40	detection of light stimulus involved in sensory perception (GO:0050962)	3.80885223
41	detection of light stimulus involved in visual perception (GO:0050908)	3.80885223
42	regulation of steroid hormone secretion (GO:2000831)	3.74335482
43	negative regulation of histone methylation (GO:0031061)	3.64525635
44	negative regulation of hormone metabolic process (GO:0032351)	3.56988449
45	angiogenesis involved in wound healing (GO:0060055)	3.56970970
46	regulation of appetite (GO:0032098)	3.56856327
47	sulfation (GO:0051923)	3.56388385
48	sulfur amino acid catabolic process (GO:0000098)	3.53560483
49	positive regulation of humoral immune response (GO:0002922)	3.53222321
50	mucosal immune response (GO:0002385)	3.50692052
51	gene silencing by RNA (GO:0031047)	3.49913564
52	positive regulation of reproductive process (GO:2000243)	3.47431631
53	interferon-gamma production (GO:0032609)	3.42967012
54	regulation of Cdc42 GTPase activity (GO:0043088)	3.41516071
55	DNA alkylation (GO:0006305)	3.41501858
56	DNA methylation (GO:0006306)	3.41501858
57	male meiosis (GO:0007140)	3.39854630
58	regulation of cytokine production involved in inflammatory response (GO:1900015)	3.37193933
59	lymphangiogenesis (GO:0001946)	3.31967362
60	positive regulation of histone H3-K4 methylation (GO:0051571)	3.29139033
61	sperm motility (GO:0030317)	3.27682054
62	sperm-egg recognition (GO:0035036)	3.23988415
63	binding of sperm to zona pellucida (GO:0007339)	3.23631708
64	organic cation transport (GO:0015695)	3.23148981
65	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	3.21186027
66	citrulline biosynthetic process (GO:0019240)	3.18746865
67	N-terminal protein amino acid acetylation (GO:0006474)	3.15743657
68	cellular response to pH (GO:0071467)	3.14333555
69	establishment of protein localization to Golgi (GO:0072600)	3.12775945
70	organ or tissue specific immune response (GO:0002251)	3.12214429
71	positive regulation of cAMP-mediated signaling (GO:0043950)	3.07342919
72	regulation of histone H3-K4 methylation (GO:0051569)	3.06951395
73	regulation of meiosis (GO:0040020)	3.06321019
74	oogenesis (GO:0048477)	3.05819062
75	regulation of calcium ion-dependent exocytosis (GO:0017158)	3.05141020
76	paraxial mesoderm development (GO:0048339)	3.00623588
77	glycerophospholipid catabolic process (GO:0046475)	2.99557707
78	cellular response to ATP (GO:0071318)	2.95010903
79	male meiosis I (GO:0007141)	2.90878889
80	negative regulation of calcium ion transport into cytosol (GO:0010523)	2.88126500
81	cysteine metabolic process (GO:0006534)	2.86716946
82	chromosome organization involved in meiosis (GO:0070192)	2.85895235
83	synaptonemal complex assembly (GO:0007130)	2.84938300
84	hematopoietic stem cell proliferation (GO:0071425)	2.82856036
85	centrosome duplication (GO:0051298)	2.82044997
86	DNA strand renaturation (GO:0000733)	2.81163993
87	positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)	2.79654524
88	centriole replication (GO:0007099)	2.79548990
89	filopodium assembly (GO:0046847)	2.77744051
90	L-amino acid import (GO:0043092)	2.77454708
91	startle response (GO:0001964)	2.77126224
92	histone H3-K9 methylation (GO:0051567)	2.75265022
93	positive regulation of gastrulation (GO:2000543)	2.74596712
94	DNA replication checkpoint (GO:0000076)	2.74436240
95	DNA damage induced protein phosphorylation (GO:0006975)	2.72459220
96	homocysteine metabolic process (GO:0050667)	2.72074660
97	rRNA methylation (GO:0031167)	2.71815072
98	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.70696658
99	chromatin assembly (GO:0031497)	2.70054908
100	regulation of memory T cell differentiation (GO:0043380)	2.69851600

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	9.84441729
2	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	4.61969777
3	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	4.57444479
4	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	3.93503077
5	GBX2_23144817_ChIP-Seq_PC3_Human	3.59235961
6	IKZF1_21737484_ChIP-ChIP_HCT116_Human	3.52422766
7	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.50488741
8	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.11834432
9	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.98869926
10	P68_20966046_ChIP-Seq_HELA_Human	1.92537686
11	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.89358753
12	DROSHA_22980978_ChIP-Seq_HELA_Human	1.89159666
13	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.85944085
14	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.85908636
15	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.75957612
16	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.69058027
17	CTCF_20526341_ChIP-Seq_ESCs_Human	1.68653903
18	PKCTHETA_26484144_Chip-Seq_BREAST_Human	1.66872208
19	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.63468953
20	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.60177857
21	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.59938806
22	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.59280221
23	BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human	1.57705149
24	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.56668884
25	BCOR_27268052_Chip-Seq_Bcells_Human	1.54820997
26	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.54319737
27	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.51692815
28	NANOG_20526341_ChIP-Seq_ESCs_Human	1.48924546
29	TP53_22573176_ChIP-Seq_HFKS_Human	1.47000285
30	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.46250554
31	ERA_21632823_ChIP-Seq_H3396_Human	1.43869392
32	ZNF274_21170338_ChIP-Seq_K562_Hela	1.42225588
33	PHF8_20622854_ChIP-Seq_HELA_Human	1.41701159
34	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.39148083
35	SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.37922724
36	E2F1_20622854_ChIP-Seq_HELA_Human	1.37749244
37	BCL6_27268052_Chip-Seq_Bcells_Human	1.36658569
38	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.35132152
39	KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse	1.33459968
40	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.31329922
41	E2F7_22180533_ChIP-Seq_HELA_Human	1.30322319
42	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.24342477
43	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.20526712
44	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.19439089
45	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.19360365
46	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.18971462
47	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.16446975
48	CBP_20019798_ChIP-Seq_JUKART_Human	1.16446975
49	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.14246758
50	E2F1_17053090_ChIP-ChIP_MCF-7_Human	1.13682983
51	TP53_16413492_ChIP-PET_HCT116_Human	1.12419762
52	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.10811489
53	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.08865394
54	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.08200905
55	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.08194088
56	CTCF_21964334_Chip-Seq_Bcells_Human	1.07673589
57	MYC_19829295_ChIP-Seq_ESCs_Human	1.07604268
58	AR_21572438_ChIP-Seq_LNCaP_Human	1.07240529
59	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.06026032
60	VDR_21846776_ChIP-Seq_THP-1_Human	1.05741846
61	OCT4_20526341_ChIP-Seq_ESCs_Human	1.05186457
62	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.04120067
63	RXRA_24833708_ChIP-Seq_LIVER_Mouse	1.03795731
64	KLF4_19829295_ChIP-Seq_ESCs_Human	1.03061066
65	TFAP2A_17053090_ChIP-ChIP_MCF-7_Human	1.02948899
66	TAF2_19829295_ChIP-Seq_ESCs_Human	1.02422153
67	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.01862319
68	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.01717569
69	AR_25329375_ChIP-Seq_VCAP_Human	1.00392344
70	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.00143370
71	EWS_26573619_Chip-Seq_HEK293_Human	0.99921761
72	STAT1_20625510_ChIP-Seq_HELA_Human	0.96837383
73	TAF15_26573619_Chip-Seq_HEK293_Human	0.96117716
74	P53_21459846_ChIP-Seq_SAOS-2_Human	0.95779650
75	RAC3_21632823_ChIP-Seq_H3396_Human	0.94692137
76	WDR5_24793694_ChIP-Seq_LNCAP_Human	0.92941183
77	OCT4_19829295_ChIP-Seq_ESCs_Human	0.92785344
78	GATA1_19941827_ChIP-Seq_MEL86_Mouse	0.92247450
79	ELK4_26923725_Chip-Seq_MESODERM_Mouse	0.90880222
80	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	0.90733977
81	GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.88847164
82	SOX3_22085726_ChIP-Seq_MUSCLE_Mouse	0.86834373
83	HIF1A_21447827_ChIP-Seq_MCF-7_Human	0.86675765
84	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.85944344
85	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	0.85389412
86	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.84584708
87	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	0.83255126
88	ERG_21242973_ChIP-ChIP_JURKAT_Human	0.82873374
89	ER_23166858_ChIP-Seq_MCF-7_Human	0.82813350
90	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.82725015
91	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	0.82347180
92	TCF4_23295773_ChIP-Seq_U87_Human	0.81865104
93	PHF8_20622853_ChIP-Seq_HELA_Human	0.81074882
94	ERG_20517297_ChIP-Seq_VCAP_Human	0.80943598
95	P300_27268052_Chip-Seq_Bcells_Human	0.80936263
96	RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.79206397
97	CIITA_25753668_ChIP-Seq_RAJI_Human	0.78937506
98	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	0.78622627
99	TBL1_22424771_ChIP-Seq_293T_Human	0.78465054
100	TET1_21451524_ChIP-Seq_MESCs_Mouse	0.78243048

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002138_abnormal_hepatobiliary_system	5.96456225
2	MP0003718_maternal_effect	5.94842980
3	MP0002139_abnormal_hepatobiliary_system	4.09825011
4	MP0003183_abnormal_peptide_metabolism	3.86574942
5	MP0008875_abnormal_xenobiotic_pharmacok	3.39165163
6	MP0001986_abnormal_taste_sensitivity	3.19146320
7	MP0005410_abnormal_fertilization	3.10875857
8	MP0005360_urolithiasis	2.91990284
9	MP0008057_abnormal_DNA_replication	2.82284683
10	MP0005171_absent_coat_pigmentation	2.45620992
11	MP0005310_abnormal_salivary_gland	2.30774377
12	MP0003693_abnormal_embryo_hatching	2.24133866
13	MP0002254_reproductive_system_inflammat	2.21027340
14	MP0005395_other_phenotype	2.19228695
15	MP0001929_abnormal_gametogenesis	2.14307514
16	MP0003879_abnormal_hair_cell	2.13546728
17	MP0005551_abnormal_eye_electrophysiolog	2.02560410
18	MP0003136_yellow_coat_color	2.02021833
19	MP0004043_abnormal_pH_regulation	2.01670132
20	MP0002210_abnormal_sex_determination	1.96432259
21	MP0002160_abnormal_reproductive_system	1.91773711
22	MP0005389_reproductive_system_phenotype	1.90707462
23	MP0008877_abnormal_DNA_methylation	1.90538840
24	MP0005174_abnormal_tail_pigmentation	1.84377741
25	MP0006292_abnormal_olfactory_placode	1.79806364
26	MP0003699_abnormal_female_reproductive	1.75108481
27	MP0005647_abnormal_sex_gland	1.70019204
28	MP0004381_abnormal_hair_follicle	1.70018482
29	MP0001919_abnormal_reproductive_system	1.66933537
30	MP0005083_abnormal_biliary_tract	1.55144942
31	MP0005377_hearing/vestibular/ear_phenot	1.52543313
32	MP0003878_abnormal_ear_physiology	1.52543313
33	MP0005670_abnormal_white_adipose	1.51585994
34	MP0003111_abnormal_nucleus_morphology	1.51294994
35	MP0000653_abnormal_sex_gland	1.50728657
36	MP0001984_abnormal_olfaction	1.46935943
37	MP0003698_abnormal_male_reproductive	1.44352269
38	MP0008058_abnormal_DNA_repair	1.41166009
39	MP0002161_abnormal_fertility/fecundity	1.38667535
40	MP0010094_abnormal_chromosome_stability	1.31008895
41	MP0006276_abnormal_autonomic_nervous	1.29940388
42	MP0005423_abnormal_somatic_nervous	1.29309139
43	MP0003077_abnormal_cell_cycle	1.26650669
44	MP0003806_abnormal_nucleotide_metabolis	1.24395311
45	MP0001145_abnormal_male_reproductive	1.23075003
46	MP0002735_abnormal_chemical_nociception	1.18499234
47	MP0000230_abnormal_systemic_arterial	1.16742601
48	MP0004142_abnormal_muscle_tone	1.10481054
49	MP0000383_abnormal_hair_follicle	1.09285026
50	MP0008789_abnormal_olfactory_epithelium	1.08401985
51	MP0010307_abnormal_tumor_latency	1.05851209
52	MP0003646_muscle_fatigue	1.02412643
53	MP0010678_abnormal_skin_adnexa	1.00302985
54	MP0005646_abnormal_pituitary_gland	0.99379101
55	MP0005499_abnormal_olfactory_system	0.98989292
56	MP0005394_taste/olfaction_phenotype	0.98989292
57	MP0005332_abnormal_amino_acid	0.98051815
58	MP0001968_abnormal_touch/_nociception	0.96994538
59	MP0002928_abnormal_bile_duct	0.94912271
60	MP0000013_abnormal_adipose_tissue	0.94878346
61	MP0001502_abnormal_circadian_rhythm	0.93612554
62	MP0004957_abnormal_blastocyst_morpholog	0.91786476
63	MP0001756_abnormal_urination	0.91129957
64	MP0005167_abnormal_blood-brain_barrier	0.90794599
65	MP0001873_stomach_inflammation	0.88739425
66	MP0000015_abnormal_ear_pigmentation	0.87163778
67	MP0000631_abnormal_neuroendocrine_gland	0.86063315
68	MP0001119_abnormal_female_reproductive	0.83744329
69	MP0004233_abnormal_muscle_weight	0.83191679
70	MP0010234_abnormal_vibrissa_follicle	0.82793827
71	MP0010329_abnormal_lipoprotein_level	0.75071231
72	MP0001324_abnormal_eye_pigmentation	0.75068994
73	MP0002970_abnormal_white_adipose	0.72252222
74	MP0002269_muscular_atrophy	0.71707059
75	MP0001664_abnormal_digestion	0.71595004
76	MP0003195_calcinosis	0.70782907
77	MP0000678_abnormal_parathyroid_gland	0.69102218
78	MP0000613_abnormal_salivary_gland	0.68467549
79	MP0001486_abnormal_startle_reflex	0.68152586
80	MP0002006_tumorigenesis	0.67913821
81	MP0008775_abnormal_heart_ventricle	0.67389915
82	MP0008961_abnormal_basal_metabolism	0.67027110
83	MP0002234_abnormal_pharynx_morphology	0.66948573
84	MP0002127_abnormal_cardiovascular_syste	0.66012621
85	MP0005409_darkened_coat_color	0.64641479
86	MP0000003_abnormal_adipose_tissue	0.63851549
87	MP0005085_abnormal_gallbladder_physiolo	0.63238014
88	MP0001348_abnormal_lacrimal_gland	0.63197918
89	MP0004858_abnormal_nervous_system	0.61518057
90	MP0001672_abnormal_embryogenesis/_devel	0.60052312
91	MP0005380_embryogenesis_phenotype	0.60052312
92	MP0001661_extended_life_span	0.57022820
93	MP0005365_abnormal_bile_salt	0.56932898
94	MP0003656_abnormal_erythrocyte_physiolo	0.56428082
95	MP0009840_abnormal_foam_cell	0.56242426
96	MP0000427_abnormal_hair_cycle	0.54085130
97	MP0004215_abnormal_myocardial_fiber	0.53127654
98	MP0001764_abnormal_homeostasis	0.53124314
99	MP0001730_embryonic_growth_arrest	0.52549418
100	MP0002272_abnormal_nervous_system	0.52354891

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Poikiloderma (HP:0001029)	5.92826942
2	Congenital sensorineural hearing impairment (HP:0008527)	5.34404193
3	Attenuation of retinal blood vessels (HP:0007843)	5.21377227
4	Male infertility (HP:0003251)	5.04054352
5	Hypophosphatemic rickets (HP:0004912)	4.03358873
6	Decreased circulating renin level (HP:0003351)	3.79314295
7	Chronic hepatic failure (HP:0100626)	3.78611249
8	Infertility (HP:0000789)	3.77096388
9	Bony spicule pigmentary retinopathy (HP:0007737)	3.69261858
10	Lower limb hyperreflexia (HP:0002395)	3.46535117
11	Testicular atrophy (HP:0000029)	3.34028084
12	Facial hemangioma (HP:0000329)	3.30530632
13	Congenital stationary night blindness (HP:0007642)	3.09747352
14	Lip pit (HP:0100267)	3.09538953
15	Aplasia of the musculature (HP:0100854)	3.07837031
16	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.89252986
17	Mesangial abnormality (HP:0001966)	2.88634602
18	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	2.84289489
19	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.82389787
20	Abnormality of DNA repair (HP:0003254)	2.81778879
21	Intestinal fistula (HP:0100819)	2.81051659
22	Rectovaginal fistula (HP:0000143)	2.79289888
23	Rectal fistula (HP:0100590)	2.79289888
24	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.78526344
25	Abnormality of dental color (HP:0011073)	2.72857135
26	Gonadotropin excess (HP:0000837)	2.72606438
27	Decreased central vision (HP:0007663)	2.71804157
28	Absent radius (HP:0003974)	2.70018298
29	Dyschromatopsia (HP:0007641)	2.64013119
30	Vaginal fistula (HP:0004320)	2.60976478
31	Impulsivity (HP:0100710)	2.57809772
32	Aplasia/Hypoplasia involving the musculature (HP:0001460)	2.55604314
33	Ileus (HP:0002595)	2.51456327
34	Absent forearm bone (HP:0003953)	2.50107668
35	Aplasia involving forearm bones (HP:0009822)	2.50107668
36	Rib fusion (HP:0000902)	2.49565199
37	Cholecystitis (HP:0001082)	2.43449141
38	Abnormal gallbladder physiology (HP:0012438)	2.43449141
39	Hypoplasia of the fovea (HP:0007750)	2.42474532
40	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.42474532
41	Chromsome breakage (HP:0040012)	2.40450953
42	Azoospermia (HP:0000027)	2.37719253
43	Anomalous pulmonary venous return (HP:0010772)	2.36892594
44	Fetal akinesia sequence (HP:0001989)	2.36583034
45	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.36367470
46	Absent thumb (HP:0009777)	2.35251622
47	Hypoplasia of the uterus (HP:0000013)	2.28374457
48	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.25973460
49	Anterior segment dysgenesis (HP:0007700)	2.25294962
50	Capillary hemangiomas (HP:0005306)	2.22296908
51	Truncal obesity (HP:0001956)	2.21143735
52	Hypokinesia (HP:0002375)	2.19083449
53	Papillary thyroid carcinoma (HP:0002895)	2.18995453
54	Hand muscle atrophy (HP:0009130)	2.17214753
55	Diminished movement (HP:0002374)	2.15499435
56	Meckel diverticulum (HP:0002245)	2.13267342
57	Prolonged partial thromboplastin time (HP:0003645)	2.12570186
58	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.12206974
59	Tinnitus (HP:0000360)	2.11175427
60	Hyperkalemia (HP:0002153)	2.10729001
61	Short tibia (HP:0005736)	2.10329248
62	Hypergonadotropic hypogonadism (HP:0000815)	2.09874196
63	Abnormality of the hepatic vasculature (HP:0006707)	2.07664920
64	Polydipsia (HP:0001959)	2.07202324
65	Abnormal drinking behavior (HP:0030082)	2.07202324
66	Abnormality of the ileum (HP:0001549)	2.02915774
67	Heart block (HP:0012722)	2.01448597
68	Osteomalacia (HP:0002749)	1.99736745
69	Absent/shortened dynein arms (HP:0200106)	1.99161054
70	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.99161054
71	Supernumerary spleens (HP:0009799)	1.99064265
72	Bilateral sensorineural hearing impairment (HP:0008619)	1.98683699
73	Hyperlipoproteinemia (HP:0010980)	1.96843259
74	Abnormality of the pulmonary veins (HP:0011718)	1.96513503
75	Squamous cell carcinoma (HP:0002860)	1.96173393
76	Abnormality of abdominal situs (HP:0011620)	1.95496243
77	Abdominal situs inversus (HP:0003363)	1.95496243
78	Abnormality of the fovea (HP:0000493)	1.94942381
79	Hemorrhage of the eye (HP:0011885)	1.93676032
80	Abnormality of the preputium (HP:0100587)	1.93591851
81	Photophobia (HP:0000613)	1.92541183
82	Clubbing of toes (HP:0100760)	1.91649765
83	Facial diplegia (HP:0001349)	1.91077157
84	Ectopic kidney (HP:0000086)	1.89829506
85	Pancreatic fibrosis (HP:0100732)	1.89537101
86	Tubulointerstitial nephritis (HP:0001970)	1.89336103
87	Retrobulbar optic neuritis (HP:0100654)	1.88525268
88	Optic neuritis (HP:0100653)	1.88525268
89	Pancreatic cysts (HP:0001737)	1.88013984
90	Abnormal atrioventricular conduction (HP:0005150)	1.80214897
91	Distal upper limb amyotrophy (HP:0007149)	1.79247940
92	Upper limb amyotrophy (HP:0009129)	1.79247940
93	Premature ovarian failure (HP:0008209)	1.76319792
94	Short thumb (HP:0009778)	1.76277508
95	Generalized aminoaciduria (HP:0002909)	1.75280184
96	Popliteal pterygium (HP:0009756)	1.74264050
97	Abnormal spermatogenesis (HP:0008669)	1.73749129
98	Aplasia/Hypoplasia of the patella (HP:0006498)	1.73378815
99	Severe visual impairment (HP:0001141)	1.73377847
100	Hypercortisolism (HP:0001578)	1.72776720

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.09745230
2	CDK12	3.52847143
3	WNK3	3.34204448
4	EEF2K	2.98534906
5	NEK6	2.93554239
6	ZAK	2.88293776
7	WNK4	2.79623392
8	MAPK15	2.76971735
9	MAP3K13	2.59518801
10	MAP3K9	2.58138449
11	TLK1	2.16243512
12	ARAF	2.06143176
13	PLK4	2.03419794
14	BLK	1.99089354
15	MAPKAPK3	1.87109091
16	MAP4K2	1.84596154
17	TAOK3	1.76692495
18	STK24	1.75519470
19	STK39	1.70431748
20	PDK2	1.66964943
21	PINK1	1.62887427
22	TXK	1.62872928
23	AURKA	1.53917873
24	BRD4	1.50877007
25	SIK2	1.48596588
26	TTK	1.42629984
27	MELK	1.39159358
28	CAMK1D	1.35604361
29	PDPK1	1.35225881
30	WNK1	1.34503154
31	NTRK3	1.34416255
32	CCNB1	1.19598679
33	CDK9	1.19016440
34	CHEK2	1.13671696
35	MAPK11	1.13251078
36	MOS	1.11844789
37	PDK1	1.09986382
38	OXSR1	1.04319490
39	FER	1.03899525
40	CAMK1G	1.02521761
41	PRKCZ	0.99860040
42	BRAF	0.98506286
43	ACVR1B	0.98404102
44	PAK1	0.96881405
45	MAPKAPK5	0.95910638
46	STK3	0.94486290
47	MST4	0.93927753
48	ADRBK2	0.92693789
49	CDK7	0.91551005
50	TYRO3	0.90090678
51	TRPM7	0.89360743
52	NEK2	0.87775587
53	MARK3	0.87442150
54	PRKCI	0.81837468
55	PRKD2	0.81320847
56	CHEK1	0.80733519
57	PLK1	0.80436021
58	MAP3K8	0.77383159
59	MET	0.77258785
60	AKT3	0.76274807
61	CDC7	0.70145086
62	INSRR	0.69320808
63	MTOR	0.68482984
64	MAP3K5	0.66860056
65	PKN1	0.66422917
66	MUSK	0.66322598
67	KSR2	0.66314730
68	NTRK2	0.63381225
69	TIE1	0.62085241
70	PIM1	0.61508517
71	MAP2K1	0.60123004
72	EIF2AK3	0.57312943
73	CDK2	0.57259341
74	PRKG1	0.57044976
75	CDK1	0.56363364
76	NME1	0.53544377
77	GSK3B	0.52685570
78	ATR	0.52680398
79	PRKAA1	0.51594136
80	IKBKB	0.50361104
81	CHUK	0.50222284
82	GRK1	0.48916466
83	IRAK1	0.48535043
84	MAPK12	0.47623379
85	BMX	0.46569834
86	BMPR1B	0.46092775
87	MAPK10	0.45806184
88	PRKAA2	0.44862234
89	MAPK13	0.44137934
90	MAPK1	0.43959165
91	BRSK2	0.43188757
92	RAF1	0.38704491
93	YES1	0.37136862
94	CSNK1D	0.36580546
95	PIK3CG	0.36388627
96	BRSK1	0.35936362
97	ADRBK1	0.34132946
98	MAP3K7	0.34024221
99	MAPK14	0.31392838
100	ATM	0.30737620

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosaminoglycan degradation_Homo sapiens_hsa00531	4.93096030
2	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	4.16903482
3	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	3.37206791
4	Basal transcription factors_Homo sapiens_hsa03022	3.07001766
5	Ovarian steroidogenesis_Homo sapiens_hsa04913	2.79344971
6	Dorso-ventral axis formation_Homo sapiens_hsa04320	2.51190069
7	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.46127791
8	Fanconi anemia pathway_Homo sapiens_hsa03460	2.43713925
9	Sulfur relay system_Homo sapiens_hsa04122	2.39107349
10	Systemic lupus erythematosus_Homo sapiens_hsa05322	2.06359963
11	Base excision repair_Homo sapiens_hsa03410	1.95131930
12	Olfactory transduction_Homo sapiens_hsa04740	1.88184834
13	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.87049030
14	Phototransduction_Homo sapiens_hsa04744	1.85675026
15	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.80998057
16	Cell cycle_Homo sapiens_hsa04110	1.73758289
17	ABC transporters_Homo sapiens_hsa02010	1.70538473
18	RNA transport_Homo sapiens_hsa03013	1.68160361
19	Lysine degradation_Homo sapiens_hsa00310	1.61161909
20	Selenocompound metabolism_Homo sapiens_hsa00450	1.59776049
21	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.54776244
22	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.49382920
23	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.47165731
24	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.43437119
25	Taste transduction_Homo sapiens_hsa04742	1.39131213
26	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.38184560
27	Alcoholism_Homo sapiens_hsa05034	1.34366758
28	Arginine biosynthesis_Homo sapiens_hsa00220	1.30959458
29	p53 signaling pathway_Homo sapiens_hsa04115	1.28839695
30	Circadian rhythm_Homo sapiens_hsa04710	1.28766492
31	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.25566282
32	Linoleic acid metabolism_Homo sapiens_hsa00591	1.24698077
33	Calcium signaling pathway_Homo sapiens_hsa04020	1.22775315
34	Nicotine addiction_Homo sapiens_hsa05033	1.22702971
35	Oocyte meiosis_Homo sapiens_hsa04114	1.21433446
36	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.13682220
37	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.12130396
38	Fat digestion and absorption_Homo sapiens_hsa04975	1.07374603
39	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	1.06649833
40	Glycerolipid metabolism_Homo sapiens_hsa00561	1.06518569
41	Homologous recombination_Homo sapiens_hsa03440	1.06116399
42	Nitrogen metabolism_Homo sapiens_hsa00910	1.04523201
43	mRNA surveillance pathway_Homo sapiens_hsa03015	0.99087068
44	Viral carcinogenesis_Homo sapiens_hsa05203	0.98631476
45	Serotonergic synapse_Homo sapiens_hsa04726	0.98309041
46	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.94425308
47	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.93073896
48	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.92529414
49	Glutathione metabolism_Homo sapiens_hsa00480	0.85093880
50	Nucleotide excision repair_Homo sapiens_hsa03420	0.81885587
51	Ether lipid metabolism_Homo sapiens_hsa00565	0.80968752
52	Mismatch repair_Homo sapiens_hsa03430	0.80201642
53	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.78872351
54	Salivary secretion_Homo sapiens_hsa04970	0.77748858
55	RNA polymerase_Homo sapiens_hsa03020	0.71736942
56	Histidine metabolism_Homo sapiens_hsa00340	0.70864565
57	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.70684389
58	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.70285931
59	Caffeine metabolism_Homo sapiens_hsa00232	0.67451432
60	Morphine addiction_Homo sapiens_hsa05032	0.67197587
61	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.65393151
62	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.65154822
63	Sphingolipid metabolism_Homo sapiens_hsa00600	0.64619635
64	RNA degradation_Homo sapiens_hsa03018	0.64134247
65	DNA replication_Homo sapiens_hsa03030	0.63381766
66	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.61299578
67	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.59313127
68	Propanoate metabolism_Homo sapiens_hsa00640	0.56504403
69	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.56265870
70	Chemical carcinogenesis_Homo sapiens_hsa05204	0.55501601
71	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.53524203
72	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.51168641
73	Bile secretion_Homo sapiens_hsa04976	0.50023090
74	cAMP signaling pathway_Homo sapiens_hsa04024	0.49534639
75	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.46785132
76	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.46367254
77	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.45957997
78	mTOR signaling pathway_Homo sapiens_hsa04150	0.44888892
79	Gap junction_Homo sapiens_hsa04540	0.44853121
80	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.41889551
81	PPAR signaling pathway_Homo sapiens_hsa03320	0.41217693
82	Pyruvate metabolism_Homo sapiens_hsa00620	0.41190151
83	FoxO signaling pathway_Homo sapiens_hsa04068	0.39056649
84	Arginine and proline metabolism_Homo sapiens_hsa00330	0.38381691
85	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.34906358
86	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.31644260
87	Folate biosynthesis_Homo sapiens_hsa00790	0.30610166
88	Cholinergic synapse_Homo sapiens_hsa04725	0.26072442
89	Metabolic pathways_Homo sapiens_hsa01100	0.26009166
90	Mineral absorption_Homo sapiens_hsa04978	0.25835585
91	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.25481208
92	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.23735097
93	Purine metabolism_Homo sapiens_hsa00230	0.23517037
94	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.20251032
95	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.19086044
96	Fc epsilon RI signaling pathway_Homo sapiens_hsa04664	0.18142425
97	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.17934598
98	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.16888647
99	Butanoate metabolism_Homo sapiens_hsa00650	0.15294278
100	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.15050027

C19ORF67

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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