ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	ribosome assembly (GO:0042255)	8.24016590
2	fusion of sperm to egg plasma membrane (GO:0007342)	7.88392461
3	acrosome reaction (GO:0007340)	6.89300200
4	chromosome condensation (GO:0030261)	6.60141577
5	male meiosis I (GO:0007141)	6.54012403
6	DNA packaging (GO:0006323)	6.44318022
7	synapsis (GO:0007129)	6.43999490
8	binding of sperm to zona pellucida (GO:0007339)	5.89886344
9	plasma membrane fusion (GO:0045026)	5.86712608
10	chromosome organization involved in meiosis (GO:0070192)	5.77398681
11	DNA methylation involved in gamete generation (GO:0043046)	5.76663894
12	male meiosis (GO:0007140)	5.64564779
13	sperm motility (GO:0030317)	5.57441789
14	synaptonemal complex assembly (GO:0007130)	5.52551648
15	rRNA methylation (GO:0031167)	5.52205934
16	piRNA metabolic process (GO:0034587)	5.44581130
17	meiosis I (GO:0007127)	5.27236871
18	sperm-egg recognition (GO:0035036)	5.21211715
19	spermatid nucleus differentiation (GO:0007289)	5.14881189
20	microtubule depolymerization (GO:0007019)	5.11327226
21	histone H3-K9 demethylation (GO:0033169)	5.07745490
22	rRNA modification (GO:0000154)	5.04702356
23	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	4.83206501
24	synaptonemal complex organization (GO:0070193)	4.80851597
25	spermatid development (GO:0007286)	4.78647063
26	meiotic nuclear division (GO:0007126)	4.71405954
27	response to pheromone (GO:0019236)	4.68173492
28	DNA synthesis involved in DNA repair (GO:0000731)	4.34204740
29	regulation of retinoic acid receptor signaling pathway (GO:0048385)	4.28547864
30	sperm capacitation (GO:0048240)	4.20330436
31	urinary tract smooth muscle contraction (GO:0014848)	4.17785205
32	single strand break repair (GO:0000012)	4.12863437
33	spermatogenesis (GO:0007283)	4.10825163
34	male gamete generation (GO:0048232)	4.10049814
35	cell-cell recognition (GO:0009988)	4.09134383
36	sexual reproduction (GO:0019953)	4.01622065
37	meiotic cell cycle process (GO:1903046)	3.93552807
38	negative regulation of inclusion body assembly (GO:0090084)	3.90709886
39	proline biosynthetic process (GO:0006561)	3.90371122
40	peristalsis (GO:0030432)	3.88952839
41	gamete generation (GO:0007276)	3.82577609
42	microtubule polymerization or depolymerization (GO:0031109)	3.80055075
43	Golgi transport vesicle coating (GO:0048200)	3.58636092
44	COPI coating of Golgi vesicle (GO:0048205)	3.58636092
45	regulation of histone H3-K27 methylation (GO:0061085)	3.57969422
46	multicellular organism reproduction (GO:0032504)	3.51769225
47	reproduction (GO:0000003)	3.51360721
48	calcium ion-dependent exocytosis (GO:0017156)	3.50492606
49	meiotic chromosome segregation (GO:0045132)	3.47360907
50	resolution of meiotic recombination intermediates (GO:0000712)	3.32512152
51	protein retention in ER lumen (GO:0006621)	3.27158321
52	negative regulation of gene silencing (GO:0060969)	3.24754732
53	motile cilium assembly (GO:0044458)	3.22715455
54	maintenance of protein localization in endoplasmic reticulum (GO:0035437)	3.21600427
55	primary alcohol catabolic process (GO:0034310)	3.20496845
56	chaperone-mediated protein complex assembly (GO:0051131)	3.09676388
57	multicellular organismal reproductive process (GO:0048609)	3.09630142
58	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G	3.05102283
59	regulation of inclusion body assembly (GO:0090083)	3.02638610
60	nuclear pore complex assembly (GO:0051292)	3.01829036
61	RNA methylation (GO:0001510)	3.01389160
62	protein-DNA complex disassembly (GO:0032986)	3.01176318
63	nucleosome disassembly (GO:0006337)	3.01176318
64	regulation of RNA export from nucleus (GO:0046831)	3.01103174
65	face development (GO:0060324)	2.99541422
66	germ cell development (GO:0007281)	2.96137504
67	fertilization (GO:0009566)	2.95954792
68	melanin biosynthetic process (GO:0042438)	2.94923898
69	centriole assembly (GO:0098534)	2.93336565
70	chromatin silencing (GO:0006342)	2.92615349
71	tRNA methylation (GO:0030488)	2.91375554
72	protein refolding (GO:0042026)	2.90654878
73	cellular protein catabolic process (GO:0044257)	2.89463705
74	nucleus organization (GO:0006997)	2.88861693
75	short-chain fatty acid metabolic process (GO:0046459)	2.85842985
76	regulation of translational fidelity (GO:0006450)	2.84341103
77	4-hydroxyproline metabolic process (GO:0019471)	2.83468945
78	proline metabolic process (GO:0006560)	2.83171138
79	negative regulation of stress fiber assembly (GO:0051497)	2.81286633
80	regulation of meiosis I (GO:0060631)	2.78098112
81	mitotic chromosome condensation (GO:0007076)	2.76236925
82	cellular process involved in reproduction in multicellular organism (GO:0022412)	2.75930469
83	ribosome biogenesis (GO:0042254)	2.75442683
84	DNA conformation change (GO:0071103)	2.74611951
85	cellular ketone body metabolic process (GO:0046950)	2.73361074
86	regulation of centriole replication (GO:0046599)	2.72744398
87	regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)	2.70951601
88	centriole replication (GO:0007099)	2.70685998
89	outflow tract septum morphogenesis (GO:0003148)	2.67660608
90	gene silencing (GO:0016458)	2.66269175
91	mitotic metaphase plate congression (GO:0007080)	2.64812772
92	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	2.64633671
93	phosphatidylethanolamine biosynthetic process (GO:0006646)	2.63641917
94	regulation of histone H3-K9 methylation (GO:0051570)	2.63638736
95	ketone body metabolic process (GO:1902224)	2.62288709
96	nuclear pore organization (GO:0006999)	2.62243449
97	chromosome organization (GO:0051276)	2.59070845
98	reciprocal DNA recombination (GO:0035825)	2.58767476
99	reciprocal meiotic recombination (GO:0007131)	2.58767476
100	DNA alkylation (GO:0006305)	2.57419625

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.69175901
2	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	3.89077479
3	E2F7_22180533_ChIP-Seq_HELA_Human	3.23963502
4	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.46943285
5	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.25163183
6	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.23177278
7	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	2.19956423
8	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	2.08468164
9	P68_20966046_ChIP-Seq_HELA_Human	1.99860996
10	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.96503682
11	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.91162540
12	ZNF263_19887448_ChIP-Seq_K562_Human	1.88849583
13	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.86141479
14	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.83323523
15	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.81921231
16	SMC4_20622854_ChIP-Seq_HELA_Human	1.81797540
17	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.77093506
18	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.76364275
19	KDM5A_27292631_Chip-Seq_BREAST_Human	1.74454581
20	NCOR1_26117541_ChIP-Seq_K562_Human	1.74073775
21	E2F1_20622854_ChIP-Seq_HELA_Human	1.72513640
22	AR_21909140_ChIP-Seq_LNCAP_Human	1.72356737
23	LXR_22292898_ChIP-Seq_THP-1_Human	1.72026292
24	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	1.71625273
25	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.69832888
26	BCOR_27268052_Chip-Seq_Bcells_Human	1.69374950
27	XRN2_22483619_ChIP-Seq_HELA_Human	1.69364811
28	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.69301366
29	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.60669448
30	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.60007923
31	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.58965802
32	GABP_19822575_ChIP-Seq_HepG2_Human	1.58876308
33	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.57566287
34	PHF8_20622854_ChIP-Seq_HELA_Human	1.57107730
35	RACK7_27058665_Chip-Seq_MCF-7_Human	1.56852410
36	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.56676458
37	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.55403630
38	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.53621625
39	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.49857500
40	CTCF_20526341_ChIP-Seq_ESCs_Human	1.48128657
41	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.46095804
42	RAC3_21632823_ChIP-Seq_H3396_Human	1.46025003
43	ERA_21632823_ChIP-Seq_H3396_Human	1.45784761
44	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.42851863
45	BCL6_27268052_Chip-Seq_Bcells_Human	1.40426958
46	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.40007998
47	ELF5_23300383_ChIP-Seq_T47D_Human	1.39547952
48	KLF4_18555785_ChIP-Seq_MESCs_Mouse	1.38879393
49	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	1.36560443
50	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.33724354
51	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.31375149
52	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	1.31342506
53	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.30903024
54	SA1_27219007_Chip-Seq_ERYTHROID_Human	1.30893239
55	ZFX_18555785_ChIP-Seq_MESCs_Mouse	1.29726777
56	SA1_27219007_Chip-Seq_Bcells_Human	1.28475866
57	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.27812124
58	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.26903122
59	DCP1A_22483619_ChIP-Seq_HELA_Human	1.25956263
60	TTF2_22483619_ChIP-Seq_HELA_Human	1.25682646
61	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.23713125
62	CTCF_27219007_Chip-Seq_Bcells_Human	1.23567951
63	CTCF_21964334_Chip-Seq_Bcells_Human	1.22738760
64	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	1.22234769
65	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.22046328
66	P300_27268052_Chip-Seq_Bcells_Human	1.21441912
67	TP63_22573176_ChIP-Seq_HFKS_Human	1.21056030
68	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.19996627
69	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.19211150
70	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.17439640
71	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.15142467
72	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.13845058
73	CTCF_27219007_Chip-Seq_ERYTHROID_Human	1.10455154
74	P53_21459846_ChIP-Seq_SAOS-2_Human	1.09891292
75	RARA_24833708_ChIP-Seq_LIVER_Mouse	1.09876011
76	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.07948058
77	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.07751687
78	GATA3_20176728_ChIP-ChIP_TSCs_Mouse	1.03148131
79	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.01967622
80	* HOXB7_26014856_ChIP-Seq_BT474_Human	0.99156945
81	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	0.99147797
82	EST1_17652178_ChIP-ChIP_JURKAT_Human	0.98019743
83	NELFA_20434984_ChIP-Seq_ESCs_Mouse	0.97285704
84	NANOG_20526341_ChIP-Seq_ESCs_Human	0.96774970
85	TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse	0.96294451
86	SREBP2_21459322_ChIP-Seq_LIVER_Mouse	0.95548304
87	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	0.94371036
88	FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	0.94341127
89	ETS1_21867929_ChIP-Seq_TH2_Mouse	0.94256527
90	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	0.92715642
91	ATF3_27146783_Chip-Seq_COLON_Human	0.92006462
92	SOX2_22085726_ChIP-Seq_NPCs_Mouse	0.91904787
93	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.91524534
94	CHD1_26751641_Chip-Seq_LNCaP_Human	0.91517007
95	GATA1_19941826_ChIP-Seq_K562_Human	0.90755002
96	CTCF_21964334_ChIP-Seq_BJAB-B_Human	0.89863963
97	STAT1_20625510_ChIP-Seq_HELA_Human	0.88393848
98	ESR1_15608294_ChIP-ChIP_MCF-7_Human	0.88369979
99	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.88288257
100	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	0.88255557

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	6.44306143
2	MP0010234_abnormal_vibrissa_follicle	4.16059082
3	MP0003878_abnormal_ear_physiology	3.61445021
4	MP0005377_hearing/vestibular/ear_phenot	3.61445021
5	MP0001348_abnormal_lacrimal_gland	3.22317385
6	MP0001929_abnormal_gametogenesis	3.13806071
7	MP0003698_abnormal_male_reproductive	3.13032012
8	MP0000678_abnormal_parathyroid_gland	3.04250656
9	MP0003136_yellow_coat_color	2.61234953
10	MP0002210_abnormal_sex_determination	2.60767896
11	MP0000372_irregular_coat_pigmentation	2.47070972
12	MP0005408_hypopigmentation	2.44906541
13	MP0008995_early_reproductive_senescence	2.37273049
14	MP0008877_abnormal_DNA_methylation	2.35298480
15	MP0005083_abnormal_biliary_tract	2.33444123
16	MP0003718_maternal_effect	2.29778138
17	MP0003693_abnormal_embryo_hatching	2.29593634
18	MP0002796_impaired_skin_barrier	2.23986891
19	MP0005171_absent_coat_pigmentation	2.19474676
20	MP0005451_abnormal_body_composition	2.14343016
21	MP0004381_abnormal_hair_follicle	2.08950287
22	MP0008058_abnormal_DNA_repair	2.04473471
23	MP0004957_abnormal_blastocyst_morpholog	1.97606254
24	MP0001145_abnormal_male_reproductive	1.97165655
25	MP0005058_abnormal_lysosome_morphology	1.94797056
26	MP0005310_abnormal_salivary_gland	1.92088158
27	MP0002161_abnormal_fertility/fecundity	1.89762546
28	MP0004233_abnormal_muscle_weight	1.88037106
29	MP0004264_abnormal_extraembryonic_tissu	1.79712997
30	MP0000653_abnormal_sex_gland	1.75437018
31	MP0002132_abnormal_respiratory_system	1.74436370
32	MP0004019_abnormal_vitamin_homeostasis	1.73142327
33	MP0002098_abnormal_vibrissa_morphology	1.66403072
34	MP0010678_abnormal_skin_adnexa	1.63010649
35	MP0003077_abnormal_cell_cycle	1.62984835
36	MP0005670_abnormal_white_adipose	1.61632078
37	MP0003111_abnormal_nucleus_morphology	1.48223080
38	MP0003786_premature_aging	1.44878868
39	MP0001346_abnormal_lacrimal_gland	1.43831887
40	MP0009697_abnormal_copulation	1.36361891
41	MP0000647_abnormal_sebaceous_gland	1.35357851
42	MP0005075_abnormal_melanosome_morpholog	1.29029944
43	MP0006035_abnormal_mitochondrial_morpho	1.28916990
44	MP0000383_abnormal_hair_follicle	1.22224614
45	MP0000681_abnormal_thyroid_gland	1.22202795
46	MP0000427_abnormal_hair_cycle	1.20338398
47	MP0002254_reproductive_system_inflammat	1.16441782
48	MP0001730_embryonic_growth_arrest	1.16030380
49	MP0010094_abnormal_chromosome_stability	1.13647334
50	MP0003936_abnormal_reproductive_system	1.11579141
51	MP0000371_diluted_coat_color	1.09882353
52	MP0001873_stomach_inflammation	1.09227964
53	MP0003699_abnormal_female_reproductive	1.08784908
54	MP0004782_abnormal_surfactant_physiolog	1.07667582
55	MP0000358_abnormal_cell_content/	1.07446053
56	MP0005636_abnormal_mineral_homeostasis	1.06236668
57	MP0005501_abnormal_skin_physiology	1.06068744
58	MP0000377_abnormal_hair_follicle	1.05943877
59	MP0002249_abnormal_larynx_morphology	1.03753969
60	MP0008932_abnormal_embryonic_tissue	1.03417671
61	MP0005395_other_phenotype	1.00906931
62	MP0001672_abnormal_embryogenesis/_devel	1.00458653
63	MP0005380_embryogenesis_phenotype	1.00458653
64	MP0001881_abnormal_mammary_gland	0.99958185
65	MP0001666_abnormal_nutrient_absorption	0.99803938
66	MP0002160_abnormal_reproductive_system	0.96930934
67	MP0003186_abnormal_redox_activity	0.94500031
68	MP0006036_abnormal_mitochondrial_physio	0.93934809
69	MP0001765_abnormal_ion_homeostasis	0.93307521
70	MP0002080_prenatal_lethality	0.90792962
71	MP0001697_abnormal_embryo_size	0.90036564
72	MP0004147_increased_porphyrin_level	0.86731670
73	MP0002095_abnormal_skin_pigmentation	0.86487413
74	MP0005379_endocrine/exocrine_gland_phen	0.85572358
75	MP0003011_delayed_dark_adaptation	0.82360969
76	MP0005365_abnormal_bile_salt	0.82228247
77	MP0000627_abnormal_mammary_gland	0.81773402
78	MP0003984_embryonic_growth_retardation	0.80926794
79	MP0002088_abnormal_embryonic_growth/wei	0.80800204
80	MP0005666_abnormal_adipose_tissue	0.80245886
81	MP0001661_extended_life_span	0.79203593
82	MP0000350_abnormal_cell_proliferation	0.77850833
83	MP0001216_abnormal_epidermal_layer	0.77146239
84	MP0002085_abnormal_embryonic_tissue	0.76273441
85	MP0008770_decreased_survivor_rate	0.74123857
86	MP0000313_abnormal_cell_death	0.73861932
87	MP0004185_abnormal_adipocyte_glucose	0.73254145
88	MP0005174_abnormal_tail_pigmentation	0.72903983
89	MP0002075_abnormal_coat/hair_pigmentati	0.72482719
90	MP0000367_abnormal_coat/_hair	0.71033271
91	MP0008007_abnormal_cellular_replicative	0.70101510
92	MP0000015_abnormal_ear_pigmentation	0.67870866
93	MP0001243_abnormal_dermal_layer	0.65519105
94	MP0002086_abnormal_extraembryonic_tissu	0.64853403
95	MP0001186_pigmentation_phenotype	0.63796379
96	MP0001119_abnormal_female_reproductive	0.63167923
97	MP0010307_abnormal_tumor_latency	0.62605323
98	MP0005085_abnormal_gallbladder_physiolo	0.62460031
99	MP0002269_muscular_atrophy	0.61775555
100	MP0000467_abnormal_esophagus_morphology	0.61449796

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Severe visual impairment (HP:0001141)	4.73647695
2	Hypoparathyroidism (HP:0000829)	4.54336920
3	Pili torti (HP:0003777)	4.40806402
4	Azoospermia (HP:0000027)	4.10323815
5	Tubulointerstitial nephritis (HP:0001970)	3.90510790
6	Reticulocytosis (HP:0001923)	3.63512476
7	Bell-shaped thorax (HP:0001591)	3.54247623
8	Truncus arteriosus (HP:0001660)	3.52484875
9	Amelogenesis imperfecta (HP:0000705)	3.52248101
10	Cholecystitis (HP:0001082)	3.18484171
11	Abnormal gallbladder physiology (HP:0012438)	3.18484171
12	Abnormal spermatogenesis (HP:0008669)	3.14907491
13	Resting tremor (HP:0002322)	3.14465835
14	Tetany (HP:0001281)	3.14254102
15	Spastic paraparesis (HP:0002313)	3.09539233
16	Male infertility (HP:0003251)	3.09534003
17	Flattened epiphyses (HP:0003071)	3.07962516
18	Hyperthyroidism (HP:0000836)	2.99545398
19	Increased circulating renin level (HP:0000848)	2.99141732
20	Tinnitus (HP:0000360)	2.94627167
21	Enlarged epiphyses (HP:0010580)	2.83523911
22	Septate vagina (HP:0001153)	2.82506632
23	Seborrheic dermatitis (HP:0001051)	2.80386543
24	Type I transferrin isoform profile (HP:0003642)	2.75902903
25	Bowel incontinence (HP:0002607)	2.74555000
26	Abnormal large intestine physiology (HP:0012700)	2.64218871
27	Aplasia/Hypoplasia of the earlobes (HP:0009906)	2.60979572
28	Curly hair (HP:0002212)	2.60440227
29	Abnormality of the aortic arch (HP:0012303)	2.57347024
30	Infertility (HP:0000789)	2.57119472
31	Abnormality of reticulocytes (HP:0004312)	2.56885491
32	Bilateral sensorineural hearing impairment (HP:0008619)	2.50985064
33	Gout (HP:0001997)	2.47428918
34	Bony spicule pigmentary retinopathy (HP:0007737)	2.46893615
35	Cerebral hypomyelination (HP:0006808)	2.45095670
36	Hyperkalemia (HP:0002153)	2.43432535
37	Abnormality of dental color (HP:0011073)	2.43209261
38	Cholelithiasis (HP:0001081)	2.42726945
39	Abnormal hair laboratory examination (HP:0003328)	2.41537260
40	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	2.37675918
41	Osteomalacia (HP:0002749)	2.36211584
42	Renal tubular acidosis (HP:0001947)	2.31540396
43	Atelectasis (HP:0100750)	2.31113460
44	Cone-rod dystrophy (HP:0000548)	2.29615328
45	Abnormality of macular pigmentation (HP:0008002)	2.29069647
46	Horizontal nystagmus (HP:0000666)	2.26397461
47	Absent/shortened dynein arms (HP:0200106)	2.20366052
48	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.20366052
49	Congenital ichthyosiform erythroderma (HP:0007431)	2.16793447
50	Blepharitis (HP:0000498)	2.16676122
51	Severe Myopia (HP:0011003)	2.13182852
52	Abnormal gallbladder morphology (HP:0012437)	2.12943410
53	Microretrognathia (HP:0000308)	2.08129410
54	Parkinsonism with favorable response to dopaminergic medication (HP:0002548)	2.07871550
55	Abnormality of the gallbladder (HP:0005264)	2.06003612
56	Hypoplastic ischia (HP:0003175)	2.02499587
57	White forelock (HP:0002211)	1.99143047
58	Termporal pattern (HP:0011008)	1.98323916
59	Insidious onset (HP:0003587)	1.98323916
60	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.97903251
61	Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)	1.97010121
62	Absent epiphyses (HP:0010577)	1.97010121
63	Abnormal protein glycosylation (HP:0012346)	1.96794475
64	Abnormal glycosylation (HP:0012345)	1.96794475
65	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.96794475
66	Abnormal protein N-linked glycosylation (HP:0012347)	1.96794475
67	Hypokinesia (HP:0002375)	1.96291745
68	Paralysis (HP:0003470)	1.96226192
69	Upper limb muscle weakness (HP:0003484)	1.95492898
70	Brushfield spots (HP:0001088)	1.95271464
71	Hand muscle atrophy (HP:0009130)	1.93739930
72	Patchy hypopigmentation of hair (HP:0011365)	1.92974802
73	Renal tubular dysfunction (HP:0000124)	1.92281788
74	Attenuation of retinal blood vessels (HP:0007843)	1.92155849
75	Abnormality of renal excretion (HP:0011036)	1.90709020
76	Paraparesis (HP:0002385)	1.89040116
77	Testicular atrophy (HP:0000029)	1.88242132
78	Abnormal drinking behavior (HP:0030082)	1.87246181
79	Polydipsia (HP:0001959)	1.87246181
80	Sparse lateral eyebrow (HP:0005338)	1.87198438
81	Hypokalemic alkalosis (HP:0001949)	1.86108845
82	Generalized aminoaciduria (HP:0002909)	1.85251465
83	Abdominal distention (HP:0003270)	1.84684754
84	Ileus (HP:0002595)	1.83072188
85	Nasal polyposis (HP:0100582)	1.82041894
86	Abnormality of fatty-acid metabolism (HP:0004359)	1.79732931
87	Abnormality of the parathyroid morphology (HP:0011766)	1.79449053
88	Abnormality of the tricuspid valve (HP:0001702)	1.75236403
89	Asymmetric septal hypertrophy (HP:0001670)	1.74672334
90	Bulbar palsy (HP:0001283)	1.73844705
91	Underdeveloped nasal alae (HP:0000430)	1.72334304
92	Gonadotropin excess (HP:0000837)	1.71271805
93	Abnormality of lateral ventricle (HP:0030047)	1.70069793
94	Hyponatremia (HP:0002902)	1.70048971
95	Hypertensive crisis (HP:0100735)	1.68476672
96	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	1.68439944
97	Myopathic facies (HP:0002058)	1.66244633
98	Aplasia/Hypoplasia of the sacrum (HP:0008517)	1.65792331
99	Peripheral hypomyelination (HP:0007182)	1.65772806
100	Multiple enchondromatosis (HP:0005701)	1.64623317

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	WNK4	4.56173710
2	PLK4	4.10950515
3	PNCK	3.65638544
4	STK39	3.42305740
5	TESK1	3.40545099
6	OXSR1	3.22775776
7	DDR2	3.06398706
8	EPHA2	2.62675935
9	AKT3	2.51342640
10	TRIB3	2.50790768
11	PDK2	2.44627428
12	TESK2	2.20664106
13	ERN1	2.10523514
14	RPS6KB2	2.01753809
15	MAPKAPK3	1.93374367
16	PKN2	1.89225230
17	MET	1.84828284
18	MST4	1.79614441
19	PBK	1.77797156
20	PLK2	1.66307710
21	EIF2AK1	1.60259233
22	WEE1	1.58283403
23	CDK7	1.56910615
24	CDK12	1.51649797
25	BRAF	1.36115615
26	PRKG2	1.33616656
27	MAP3K8	1.32291309
28	INSRR	1.31932338
29	BMX	1.30369554
30	NEK1	1.28396040
31	TTK	1.20648358
32	MAP3K2	1.19314288
33	VRK2	1.16495816
34	CAMK1G	1.14364621
35	PRKCI	1.09016464
36	TSSK6	1.05973438
37	MST1R	1.04257798
38	ERBB4	1.03946505
39	PTK2B	1.02882380
40	KSR2	1.01981542
41	ICK	1.01805400
42	STK38	0.99811258
43	NEK6	0.99433081
44	LRRK2	0.99138864
45	MAP2K2	0.97015663
46	PRKD3	0.94146448
47	CDK3	0.91796754
48	IRAK3	0.89894853
49	LATS2	0.84328934
50	CHEK1	0.82444861
51	FER	0.81233258
52	MAP4K2	0.79445576
53	SRPK1	0.77091946
54	PDPK1	0.71361667
55	ILK	0.70916685
56	STK16	0.66382542
57	AURKA	0.65665865
58	MTOR	0.62883769
59	SMG1	0.59861126
60	NME1	0.59815717
61	WNK1	0.59205841
62	AKT2	0.58412768
63	MAPK15	0.57290548
64	DYRK3	0.57096831
65	RET	0.56940716
66	CDK19	0.54777103
67	AURKB	0.53065373
68	LATS1	0.52116997
69	CDK2	0.52090797
70	CDK1	0.49826904
71	NME2	0.49788592
72	PLK1	0.49338574
73	MARK3	0.48785605
74	ZAP70	0.48241694
75	CHEK2	0.47897669
76	MAP2K6	0.47213264
77	STK38L	0.46653773
78	MAP3K9	0.45587204
79	PTK6	0.42965504
80	DMPK	0.41229760
81	PDK1	0.40577458
82	NEK2	0.40310933
83	STK10	0.40052138
84	PTK2	0.38468781
85	RPS6KA2	0.37733885
86	SCYL2	0.37387630
87	MAP2K1	0.37184082
88	BUB1	0.36956047
89	MAP3K6	0.35102763
90	GSK3B	0.34403038
91	ATR	0.32958508
92	CDK11A	0.32255816
93	GRK5	0.32083221
94	ERBB2	0.31495138
95	BRD4	0.31347098
96	CDK4	0.29749051
97	MATK	0.29592544
98	CSNK1E	0.29500821
99	EIF2AK3	0.28356382
100	CSNK2A2	0.27477722

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phenylalanine metabolism_Homo sapiens_hsa00360	4.08969044
2	Tyrosine metabolism_Homo sapiens_hsa00350	3.21068254
3	Folate biosynthesis_Homo sapiens_hsa00790	2.93688859
4	RNA transport_Homo sapiens_hsa03013	2.81459042
5	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	2.57634477
6	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.42676277
7	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.40947095
8	Sulfur relay system_Homo sapiens_hsa04122	2.32926364
9	mRNA surveillance pathway_Homo sapiens_hsa03015	2.13007705
10	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	2.07026212
11	DNA replication_Homo sapiens_hsa03030	1.98174138
12	Histidine metabolism_Homo sapiens_hsa00340	1.85175524
13	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.81419439
14	Arginine and proline metabolism_Homo sapiens_hsa00330	1.78923425
15	beta-Alanine metabolism_Homo sapiens_hsa00410	1.78412641
16	Mismatch repair_Homo sapiens_hsa03430	1.77125452
17	Homologous recombination_Homo sapiens_hsa03440	1.76655256
18	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.71653110
19	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.70718125
20	Olfactory transduction_Homo sapiens_hsa04740	1.70282563
21	Basal transcription factors_Homo sapiens_hsa03022	1.68070619
22	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.64694034
23	Spliceosome_Homo sapiens_hsa03040	1.62851824
24	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.57242015
25	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.48395730
26	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.47692858
27	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.44944918
28	Collecting duct acid secretion_Homo sapiens_hsa04966	1.42223047
29	Arginine biosynthesis_Homo sapiens_hsa00220	1.40181628
30	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.37152239
31	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.34673040
32	Nucleotide excision repair_Homo sapiens_hsa03420	1.26229487
33	Thyroid cancer_Homo sapiens_hsa05216	1.23549460
34	Fatty acid elongation_Homo sapiens_hsa00062	1.22632420
35	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.22632147
36	Pentose phosphate pathway_Homo sapiens_hsa00030	1.20419806
37	Pyruvate metabolism_Homo sapiens_hsa00620	1.19001313
38	Selenocompound metabolism_Homo sapiens_hsa00450	1.15784391
39	Other glycan degradation_Homo sapiens_hsa00511	1.14231006
40	Fatty acid metabolism_Homo sapiens_hsa01212	1.12572517
41	Ribosome_Homo sapiens_hsa03010	1.11442751
42	Vibrio cholerae infection_Homo sapiens_hsa05110	1.11407710
43	Steroid biosynthesis_Homo sapiens_hsa00100	1.07844944
44	Galactose metabolism_Homo sapiens_hsa00052	1.07747368
45	Glutathione metabolism_Homo sapiens_hsa00480	1.06981788
46	Base excision repair_Homo sapiens_hsa03410	1.06186869
47	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.05871807
48	Carbon metabolism_Homo sapiens_hsa01200	1.05800445
49	Cell cycle_Homo sapiens_hsa04110	1.04206166
50	One carbon pool by folate_Homo sapiens_hsa00670	1.03988130
51	Proteasome_Homo sapiens_hsa03050	1.03885261
52	Fanconi anemia pathway_Homo sapiens_hsa03460	0.97189356
53	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.88643069
54	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.87783258
55	Butanoate metabolism_Homo sapiens_hsa00650	0.87758534
56	Oocyte meiosis_Homo sapiens_hsa04114	0.84965646
57	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.84010159
58	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.82625514
59	Taste transduction_Homo sapiens_hsa04742	0.77596008
60	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.77386640
61	Chemical carcinogenesis_Homo sapiens_hsa05204	0.77200226
62	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.76919298
63	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.75672443
64	Peroxisome_Homo sapiens_hsa04146	0.75458785
65	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.75078725
66	Acute myeloid leukemia_Homo sapiens_hsa05221	0.73669765
67	Pyrimidine metabolism_Homo sapiens_hsa00240	0.72659249
68	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.71499351
69	RNA polymerase_Homo sapiens_hsa03020	0.69704168
70	Huntingtons disease_Homo sapiens_hsa05016	0.69274477
71	Metabolic pathways_Homo sapiens_hsa01100	0.67088228
72	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.66225689
73	Purine metabolism_Homo sapiens_hsa00230	0.63693163
74	Lysosome_Homo sapiens_hsa04142	0.63294392
75	Oxidative phosphorylation_Homo sapiens_hsa00190	0.62409852
76	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.60009435
77	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.60000024
78	ABC transporters_Homo sapiens_hsa02010	0.54980594
79	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.51272286
80	RNA degradation_Homo sapiens_hsa03018	0.50288601
81	VEGF signaling pathway_Homo sapiens_hsa04370	0.49846983
82	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.49778090
83	Antigen processing and presentation_Homo sapiens_hsa04612	0.49258167
84	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.47475448
85	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.46787951
86	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.45020323
87	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.43028351
88	Parkinsons disease_Homo sapiens_hsa05012	0.43001475
89	Endocytosis_Homo sapiens_hsa04144	0.41765311
90	mTOR signaling pathway_Homo sapiens_hsa04150	0.41438304
91	Propanoate metabolism_Homo sapiens_hsa00640	0.41236961
92	Viral carcinogenesis_Homo sapiens_hsa05203	0.40697887
93	Type II diabetes mellitus_Homo sapiens_hsa04930	0.38778761
94	Insulin signaling pathway_Homo sapiens_hsa04910	0.35834302
95	Retinol metabolism_Homo sapiens_hsa00830	0.34452760
96	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.34394273
97	Sphingolipid metabolism_Homo sapiens_hsa00600	0.34276797
98	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.33992460
99	Prolactin signaling pathway_Homo sapiens_hsa04917	0.33456237
100	ErbB signaling pathway_Homo sapiens_hsa04012	0.33191419

VCX3A

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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