ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	axonemal dynein complex assembly (GO:0070286)	8.09608298
2	sperm motility (GO:0030317)	7.84577140
3	cilium or flagellum-dependent cell motility (GO:0001539)	7.09613096
4	acrosome reaction (GO:0007340)	6.43587523
5	fusion of sperm to egg plasma membrane (GO:0007342)	6.40264418
6	cilium movement (GO:0003341)	6.02583662
7	epithelial cilium movement (GO:0003351)	5.97348088
8	motile cilium assembly (GO:0044458)	5.92544008
9	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	5.71033185
10	sperm capacitation (GO:0048240)	5.70165232
11	protein polyglutamylation (GO:0018095)	5.35475695
12	phosphatidylethanolamine biosynthetic process (GO:0006646)	5.16685821
13	protein targeting to Golgi (GO:0000042)	5.06145517
14	regulation of cilium movement (GO:0003352)	5.05593934
15	cellular ketone body metabolic process (GO:0046950)	5.01568111
16	axoneme assembly (GO:0035082)	4.94280630
17	establishment of protein localization to Golgi (GO:0072600)	4.84616439
18	plasma membrane fusion (GO:0045026)	4.74140102
19	phosphatidylethanolamine metabolic process (GO:0046337)	4.72203396
20	retrograde transport, vesicle recycling within Golgi (GO:0000301)	4.71029584
21	spermatid development (GO:0007286)	4.67111282
22	response to pheromone (GO:0019236)	4.61021492
23	microtubule depolymerization (GO:0007019)	4.52080660
24	centriole assembly (GO:0098534)	4.41390436
25	ketone body metabolic process (GO:1902224)	4.34858948
26	chromosome condensation (GO:0030261)	4.31123948
27	DNA packaging (GO:0006323)	4.27325120
28	microtubule polymerization or depolymerization (GO:0031109)	4.16624347
29	single strand break repair (GO:0000012)	4.16494497
30	spermatogenesis (GO:0007283)	4.00833838
31	male gamete generation (GO:0048232)	3.99738550
32	multicellular organism reproduction (GO:0032504)	3.99599154
33	intestinal cholesterol absorption (GO:0030299)	3.98300735
34	sperm-egg recognition (GO:0035036)	3.91946183
35	protein localization to Golgi apparatus (GO:0034067)	3.86774148
36	sexual reproduction (GO:0019953)	3.83121591
37	reproduction (GO:0000003)	3.80152707
38	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	3.79218984
39	L-phenylalanine catabolic process (GO:0006559)	3.79218984
40	centriole replication (GO:0007099)	3.77724923
41	calcium ion-dependent exocytosis (GO:0017156)	3.76641772
42	microtubule severing (GO:0051013)	3.68732677
43	gamete generation (GO:0007276)	3.68310505
44	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	3.66437059
45	L-phenylalanine metabolic process (GO:0006558)	3.66437059
46	nephron tubule morphogenesis (GO:0072078)	3.61236076
47	nephron epithelium morphogenesis (GO:0072088)	3.61236076
48	phosphatidylcholine biosynthetic process (GO:0006656)	3.56584091
49	RNA destabilization (GO:0050779)	3.53565178
50	rRNA methylation (GO:0031167)	3.49492403
51	regulation of centriole replication (GO:0046599)	3.47409405
52	peptidyl-glutamic acid modification (GO:0018200)	3.43937754
53	binding of sperm to zona pellucida (GO:0007339)	3.43877414
54	glomerular epithelial cell development (GO:0072310)	3.41349902
55	regulation of cholesterol esterification (GO:0010872)	3.40873452
56	seminiferous tubule development (GO:0072520)	3.36907028
57	plasma lipoprotein particle assembly (GO:0034377)	3.35810214
58	embryonic retina morphogenesis in camera-type eye (GO:0060059)	3.34427307
59	epithelial cell fate commitment (GO:0072148)	3.29205326
60	reverse cholesterol transport (GO:0043691)	3.26154614
61	spermatid nucleus differentiation (GO:0007289)	3.21671875
62	single fertilization (GO:0007338)	3.21657900
63	cilium organization (GO:0044782)	3.18601291
64	low-density lipoprotein particle remodeling (GO:0034374)	3.17502395
65	cell-cell recognition (GO:0009988)	3.17428689
66	receptor recycling (GO:0001881)	3.16905908
67	high-density lipoprotein particle remodeling (GO:0034375)	3.15514952
68	protein carboxylation (GO:0018214)	3.14179364
69	peptidyl-glutamic acid carboxylation (GO:0017187)	3.14179364
70	negative regulation of sodium ion transport (GO:0010766)	3.13868580
71	ethanol oxidation (GO:0006069)	3.13160216
72	regulation of fibrinolysis (GO:0051917)	3.11614446
73	cilium assembly (GO:0042384)	3.10983927
74	ethanol metabolic process (GO:0006067)	3.10575276
75	regulation of microtubule-based movement (GO:0060632)	3.06563086
76	microtubule bundle formation (GO:0001578)	3.04059058
77	cellular zinc ion homeostasis (GO:0006882)	3.01885523
78	fertilization (GO:0009566)	2.99571503
79	regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	2.96218439
80	multicellular organismal reproductive process (GO:0048609)	2.95581722
81	left/right axis specification (GO:0070986)	2.93845805
82	alanine transport (GO:0032328)	2.90274184
83	lung epithelium development (GO:0060428)	2.86477319
84	plasma lipoprotein particle remodeling (GO:0034369)	2.84676970
85	protein-lipid complex remodeling (GO:0034368)	2.84676970
86	macromolecular complex remodeling (GO:0034367)	2.84676970
87	germ cell development (GO:0007281)	2.81250040
88	positive regulation of Rab GTPase activity (GO:0032851)	2.81211444
89	regulation of Rab GTPase activity (GO:0032313)	2.81211444
90	organic cation transport (GO:0015695)	2.80342377
91	glycerol ether metabolic process (GO:0006662)	2.80013010
92	protein-lipid complex assembly (GO:0065005)	2.76059247
93	rRNA modification (GO:0000154)	2.74811529
94	negative regulation of inclusion body assembly (GO:0090084)	2.72922709
95	regulation of bile acid biosynthetic process (GO:0070857)	2.72621758
96	aromatic amino acid family catabolic process (GO:0009074)	2.72436109
97	inner ear receptor cell differentiation (GO:0060113)	2.72138714
98	regulation of transcription involved in cell fate commitment (GO:0060850)	2.71012584
99	cholesterol efflux (GO:0033344)	2.70774020
100	ether metabolic process (GO:0018904)	2.68323467

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.23154716
2	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	2.78462354
3	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.51417076
4	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.45655196
5	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	2.03332717
6	FOXA2_19822575_ChIP-Seq_HepG2_Human	2.00702800
7	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.93417907
8	FUS_26573619_Chip-Seq_HEK293_Human	1.88127382
9	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.84754937
10	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.79640862
11	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.79640862
12	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.79207344
13	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.78485116
14	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.76644998
15	ER_23166858_ChIP-Seq_MCF-7_Human	1.71610740
16	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.63711019
17	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.62435222
18	CBP_20019798_ChIP-Seq_JUKART_Human	1.61382451
19	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.61382451
20	AR_25329375_ChIP-Seq_VCAP_Human	1.60991458
21	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.59832129
22	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.58287192
23	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.58067501
24	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.57535647
25	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.56020299
26	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.51728729
27	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.51643660
28	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.51162101
29	DROSHA_22980978_ChIP-Seq_HELA_Human	1.50766551
30	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.50479550
31	GATA4_25053715_ChIP-Seq_YYC3_Human	1.46387150
32	ERA_21632823_ChIP-Seq_H3396_Human	1.43539001
33	MYC_19829295_ChIP-Seq_ESCs_Human	1.41039761
34	HNF4A_19822575_ChIP-Seq_HepG2_Human	1.40076898
35	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.39583263
36	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.38330213
37	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.37595829
38	CEBPB_22108803_ChIP-Seq_LS180_Human	1.37201076
39	OCT4_20526341_ChIP-Seq_ESCs_Human	1.36092549
40	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.35457586
41	ZNF274_21170338_ChIP-Seq_K562_Hela	1.34961842
42	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.33637321
43	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.33331298
44	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.33253124
45	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.32627486
46	P300_19829295_ChIP-Seq_ESCs_Human	1.32047601
47	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.31295889
48	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.30163210
49	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.27865769
50	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.27698587
51	AHR_22903824_ChIP-Seq_MCF-7_Human	1.26210151
52	SMAD4_21799915_ChIP-Seq_A2780_Human	1.26173490
53	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.25687175
54	STAT3_23295773_ChIP-Seq_U87_Human	1.24966321
55	RAC3_21632823_ChIP-Seq_H3396_Human	1.22530937
56	CDX2_22108803_ChIP-Seq_LS180_Human	1.22364149
57	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.21747629
58	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.21204304
59	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.20440280
60	NANOG_20526341_ChIP-Seq_ESCs_Human	1.19958373
61	GBX2_23144817_ChIP-Seq_PC3_Human	1.19932610
62	RUNX2_22187159_ChIP-Seq_PCA_Human	1.17695152
63	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.17092138
64	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.17092138
65	TAF2_19829295_ChIP-Seq_ESCs_Human	1.16953857
66	NANOG_19829295_ChIP-Seq_ESCs_Human	1.15965660
67	SOX2_19829295_ChIP-Seq_ESCs_Human	1.15965660
68	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.15741841
69	HOXB7_26014856_ChIP-Seq_BT474_Human	1.15127662
70	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.12562305
71	FOXA1_25552417_ChIP-Seq_VCAP_Human	1.12176995
72	VDR_22108803_ChIP-Seq_LS180_Human	1.12138616
73	CTCF_27219007_Chip-Seq_Bcells_Human	1.10924199
74	CBX2_22325352_ChIP-Seq_293T-Rex_Human	1.10379890
75	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.09822599
76	SMC4_20622854_ChIP-Seq_HELA_Human	1.09347646
77	ERG_20517297_ChIP-Seq_VCAP_Human	1.09340665
78	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.09254504
79	TAF15_26573619_Chip-Seq_HEK293_Human	1.08564586
80	ETV1_20927104_ChIP-Seq_GIST48_Human	1.08424260
81	TCF4_22108803_ChIP-Seq_LS180_Human	1.08123778
82	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.08091469
83	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.07947118
84	RBPJ_21746931_ChIP-Seq_IB4_Human	1.07377050
85	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.06852653
86	TP63_22573176_ChIP-Seq_HFKS_Human	1.06249643
87	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.05901807
88	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.05881374
89	SMAD3_21741376_ChIP-Seq_ESCs_Human	1.05766340
90	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.05765770
91	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.05244312
92	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.04562664
93	GATA6_25053715_ChIP-Seq_YYC3_Human	1.03734580
94	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.03466044
95	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.02560307
96	P300_27268052_Chip-Seq_Bcells_Human	1.02257936
97	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.02188566
98	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.02003216
99	SOX2_27498859_Chip-Seq_STOMACH_Mouse	1.01974209
100	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.01253591

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	5.83358963
2	MP0002139_abnormal_hepatobiliary_system	4.74928872
3	MP0003878_abnormal_ear_physiology	3.08094534
4	MP0005377_hearing/vestibular/ear_phenot	3.08094534
5	MP0005379_endocrine/exocrine_gland_phen	2.96051569
6	MP0010329_abnormal_lipoprotein_level	2.93697816
7	MP0003122_maternal_imprinting	2.92269929
8	MP0005365_abnormal_bile_salt	2.89804642
9	MP0005670_abnormal_white_adipose	2.86128953
10	MP0010234_abnormal_vibrissa_follicle	2.65647275
11	MP0008875_abnormal_xenobiotic_pharmacok	2.63878223
12	MP0009780_abnormal_chondrocyte_physiolo	2.55915948
13	MP0001666_abnormal_nutrient_absorption	2.44760097
14	MP0003698_abnormal_male_reproductive	2.41173283
15	MP0003195_calcinosis	2.32847441
16	MP0001929_abnormal_gametogenesis	2.10730011
17	MP0002132_abnormal_respiratory_system	2.06077267
18	MP0002909_abnormal_adrenal_gland	2.02183707
19	MP0004019_abnormal_vitamin_homeostasis	2.00562360
20	MP0002138_abnormal_hepatobiliary_system	1.96816070
21	MP0002254_reproductive_system_inflammat	1.88611193
22	MP0003172_abnormal_lysosome_physiology	1.82032274
23	MP0005645_abnormal_hypothalamus_physiol	1.78700548
24	MP0000566_synostosis	1.78284213
25	MP0003011_delayed_dark_adaptation	1.78232099
26	MP0001984_abnormal_olfaction	1.72658366
27	MP0005085_abnormal_gallbladder_physiolo	1.68906712
28	MP0001944_abnormal_pancreas_morphology	1.65221769
29	MP0003718_maternal_effect	1.64280549
30	MP0005332_abnormal_amino_acid	1.62095858
31	MP0001765_abnormal_ion_homeostasis	1.61588075
32	MP0005636_abnormal_mineral_homeostasis	1.60936169
33	MP0003879_abnormal_hair_cell	1.53219115
34	MP0002876_abnormal_thyroid_physiology	1.52175868
35	MP0004133_heterotaxia	1.46045794
36	MP0005310_abnormal_salivary_gland	1.45066812
37	MP0005220_abnormal_exocrine_pancreas	1.42987999
38	MP0004043_abnormal_pH_regulation	1.42803560
39	MP0002693_abnormal_pancreas_physiology	1.40703304
40	MP0005551_abnormal_eye_electrophysiolog	1.40046442
41	MP0005084_abnormal_gallbladder_morpholo	1.37435738
42	MP0001485_abnormal_pinna_reflex	1.35612264
43	MP0003123_paternal_imprinting	1.35348536
44	MP0002161_abnormal_fertility/fecundity	1.34217823
45	MP0001756_abnormal_urination	1.27290501
46	MP0001348_abnormal_lacrimal_gland	1.26905723
47	MP0005360_urolithiasis	1.25968425
48	MP0002118_abnormal_lipid_homeostasis	1.24960125
49	MP0005408_hypopigmentation	1.22884117
50	MP0003252_abnormal_bile_duct	1.21875988
51	MP0002163_abnormal_gland_morphology	1.20548605
52	MP0000678_abnormal_parathyroid_gland	1.18820144
53	MP0002078_abnormal_glucose_homeostasis	1.18683014
54	MP0002837_dystrophic_cardiac_calcinosis	1.16199409
55	MP0003868_abnormal_feces_composition	1.13314310
56	MP0005395_other_phenotype	1.10937252
57	MP0005646_abnormal_pituitary_gland	1.10604066
58	MP0003646_muscle_fatigue	1.06165095
59	MP0003953_abnormal_hormone_level	1.00104185
60	MP0003787_abnormal_imprinting	0.97923666
61	MP0009643_abnormal_urine_homeostasis	0.97298500
62	MP0000639_abnormal_adrenal_gland	0.96510903
63	MP0003121_genomic_imprinting	0.95430198
64	MP0009046_muscle_twitch	0.95328984
65	MP0002229_neurodegeneration	0.93419298
66	MP0002210_abnormal_sex_determination	0.91458808
67	MP0004270_analgesia	0.91056556
68	MP0000653_abnormal_sex_gland	0.89372185
69	MP0009115_abnormal_fat_cell	0.88102725
70	MP0002557_abnormal_social/conspecific_i	0.88065274
71	MP0000609_abnormal_liver_physiology	0.87394619
72	MP0001486_abnormal_startle_reflex	0.86606954
73	MP0005253_abnormal_eye_physiology	0.86075616
74	MP0005451_abnormal_body_composition	0.85464658
75	MP0001145_abnormal_male_reproductive	0.85402280
76	MP0005083_abnormal_biliary_tract	0.84227147
77	MP0004264_abnormal_extraembryonic_tissu	0.84157230
78	MP0005448_abnormal_energy_balance	0.83261698
79	MP0008877_abnormal_DNA_methylation	0.82116655
80	MP0002168_other_aberrant_phenotype	0.76951199
81	MP0000003_abnormal_adipose_tissue	0.76528284
82	MP0001764_abnormal_homeostasis	0.74551730
83	MP0001501_abnormal_sleep_pattern	0.74250891
84	MP0001529_abnormal_vocalization	0.74219624
85	MP0001270_distended_abdomen	0.73554828
86	MP0002938_white_spotting	0.71295014
87	MP0003283_abnormal_digestive_organ	0.70986689
88	MP0000631_abnormal_neuroendocrine_gland	0.67835956
89	MP0001963_abnormal_hearing_physiology	0.66711671
90	MP0002653_abnormal_ependyma_morphology	0.66383609
91	MP0005248_abnormal_Harderian_gland	0.66133952
92	MP0004085_abnormal_heartbeat	0.66110712
93	MP0006072_abnormal_retinal_apoptosis	0.66022911
94	MP0002928_abnormal_bile_duct	0.65794588
95	MP0000516_abnormal_urinary_system	0.64666659
96	MP0005367_renal/urinary_system_phenotyp	0.64666659
97	MP0002734_abnormal_mechanical_nocicepti	0.62715802
98	MP0000026_abnormal_inner_ear	0.62348136
99	MP0009642_abnormal_blood_homeostasis	0.61727194
100	MP0002160_abnormal_reproductive_system	0.61095429

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	6.42159161
2	Dynein arm defect of respiratory motile cilia (HP:0012255)	6.37842608
3	Absent/shortened dynein arms (HP:0200106)	6.37842608
4	Abnormal respiratory epithelium morphology (HP:0012253)	5.87680280
5	Abnormal respiratory motile cilium morphology (HP:0005938)	5.87680280
6	Abnormal respiratory motile cilium physiology (HP:0012261)	5.85274964
7	Abnormal ciliary motility (HP:0012262)	5.84569273
8	Rhinitis (HP:0012384)	5.05095939
9	Severe visual impairment (HP:0001141)	4.36299988
10	Chronic bronchitis (HP:0004469)	3.97587123
11	Nasal polyposis (HP:0100582)	3.86461799
12	Chronic hepatic failure (HP:0100626)	3.76882230
13	Tubulointerstitial nephritis (HP:0001970)	3.70279946
14	Bronchiectasis (HP:0002110)	3.65211787
15	Facial shape deformation (HP:0011334)	3.33707930
16	Potter facies (HP:0002009)	3.33707930
17	Abnormality of aromatic amino acid family metabolism (HP:0004338)	3.32201386
18	Pancreatic fibrosis (HP:0100732)	3.21586918
19	Hyperkalemia (HP:0002153)	3.08872590
20	Prolonged partial thromboplastin time (HP:0003645)	3.04945060
21	Infertility (HP:0000789)	2.93643280
22	Vascular calcification (HP:0004934)	2.92337316
23	Abnormality of the nasal mucosa (HP:0000433)	2.91047128
24	True hermaphroditism (HP:0010459)	2.90573948
25	Bony spicule pigmentary retinopathy (HP:0007737)	2.89828432
26	Nephronophthisis (HP:0000090)	2.78357399
27	Cystic liver disease (HP:0006706)	2.77120972
28	Deep venous thrombosis (HP:0002625)	2.75564094
29	Pancreatic cysts (HP:0001737)	2.71610909
30	Male infertility (HP:0003251)	2.69808786
31	Congenital malformation of the right heart (HP:0011723)	2.67626587
32	Double outlet right ventricle (HP:0001719)	2.67626587
33	Hypobetalipoproteinemia (HP:0003563)	2.66990625
34	Hypolipoproteinemia (HP:0010981)	2.66806142
35	Hypoalphalipoproteinemia (HP:0003233)	2.59119929
36	Occipital encephalocele (HP:0002085)	2.55475897
37	Cone-rod dystrophy (HP:0000548)	2.42463143
38	Abnormality of renal excretion (HP:0011036)	2.42236915
39	Abnormality of the renal medulla (HP:0100957)	2.40974983
40	Cardiovascular calcification (HP:0011915)	2.38006262
41	Menstrual irregularities (HP:0000858)	2.32071674
42	Abnormal rod and cone electroretinograms (HP:0008323)	2.30958677
43	Attenuation of retinal blood vessels (HP:0007843)	2.30529084
44	Abnormality of macular pigmentation (HP:0008002)	2.28617404
45	Hypophosphatemic rickets (HP:0004912)	2.24109929
46	Late onset (HP:0003584)	2.19153106
47	Tubular atrophy (HP:0000092)	2.18985864
48	Abnormality of the renal cortex (HP:0011035)	2.18665641
49	Stage 5 chronic kidney disease (HP:0003774)	2.16960917
50	Amelogenesis imperfecta (HP:0000705)	2.16802107
51	Asymmetric septal hypertrophy (HP:0001670)	2.16663645
52	Molar tooth sign on MRI (HP:0002419)	2.16205721
53	Abnormality of midbrain morphology (HP:0002418)	2.16205721
54	Abnormal urine output (HP:0012590)	2.15904710
55	Fat malabsorption (HP:0002630)	2.15312260
56	Abnormality of urine glucose concentration (HP:0011016)	2.13681559
57	Glycosuria (HP:0003076)	2.13681559
58	Tubulointerstitial abnormality (HP:0001969)	2.13573990
59	Ketoacidosis (HP:0001993)	2.10863586
60	Joint hemorrhage (HP:0005261)	2.03243228
61	Abnormality of vitamin B metabolism (HP:0004340)	2.02411643
62	Abnormality of chloride homeostasis (HP:0011422)	2.01425041
63	Abnormality of vitamin metabolism (HP:0100508)	2.00503314
64	Polydipsia (HP:0001959)	1.99037906
65	Abnormal drinking behavior (HP:0030082)	1.99037906
66	Azoospermia (HP:0000027)	1.98847450
67	Unilateral renal agenesis (HP:0000122)	1.98219299
68	Insulin-resistant diabetes mellitus (HP:0000831)	1.97993563
69	Male pseudohermaphroditism (HP:0000037)	1.97803134
70	Abnormality of dental color (HP:0011073)	1.97555217
71	Osteomalacia (HP:0002749)	1.96555685
72	Progressive sensorineural hearing impairment (HP:0000408)	1.96135056
73	Hypoglycemic coma (HP:0001325)	1.95288879
74	Hyperactive renin-angiotensin system (HP:0000841)	1.93037264
75	Pancreatic islet-cell hyperplasia (HP:0004510)	1.91591902
76	Intestinal atresia (HP:0011100)	1.90780222
77	Hyperthyroidism (HP:0000836)	1.85631414
78	Abnormality of the level of lipoprotein cholesterol (HP:0010979)	1.82109080
79	Pigmentary retinal degeneration (HP:0001146)	1.82026406
80	Abnormal biliary tract physiology (HP:0012439)	1.81303038
81	Bile duct proliferation (HP:0001408)	1.81303038
82	Recurrent sinusitis (HP:0011108)	1.81151214
83	Epiphyseal dysplasia (HP:0002656)	1.80467459
84	Hyperphosphatemia (HP:0002905)	1.78446547
85	Steatorrhea (HP:0002570)	1.74140415
86	Recurrent otitis media (HP:0000403)	1.73954058
87	Widely patent fontanelles and sutures (HP:0004492)	1.73048867
88	Hyperuricemia (HP:0002149)	1.72947554
89	Increased purine levels (HP:0004368)	1.72947554
90	Postaxial foot polydactyly (HP:0001830)	1.72048029
91	Subcapsular cataract (HP:0000523)	1.71681642
92	Abnormality of potassium homeostasis (HP:0011042)	1.70251141
93	Hyponatremia (HP:0002902)	1.70197453
94	Progressive hearing impairment (HP:0001730)	1.70132426
95	Large for gestational age (HP:0001520)	1.69325397
96	Chronic sinusitis (HP:0011109)	1.68832235
97	Abnormal sex determination (HP:0012244)	1.68073516
98	Sex reversal (HP:0012245)	1.68073516
99	Ketosis (HP:0001946)	1.67771865
100	Bronchitis (HP:0012387)	1.66920683

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PLK4	5.65281759
2	FRK	4.02686627
3	MAP4K2	3.36654557
4	INSRR	3.34350462
5	PNCK	3.01672287
6	MAPK15	2.88686880
7	WNK4	2.72283797
8	TESK1	2.69126437
9	PLK2	2.62905437
10	AKT3	2.32582762
11	FGFR3	2.31310321
12	CAMK1G	2.21151406
13	MST4	2.18465573
14	FGFR2	2.12977316
15	MST1R	2.10990676
16	PRKD3	2.09589421
17	DDR2	1.93136104
18	STK24	1.87772564
19	FGFR4	1.86423488
20	STK38	1.82136032
21	BRD4	1.81116714
22	STK39	1.73175499
23	STK38L	1.72657163
24	EPHA2	1.61594453
25	GRK1	1.47859358
26	PDPK1	1.33183456
27	MAP3K4	1.30501437
28	PTK2B	1.29617475
29	WNK1	1.25942440
30	PRKAA2	1.21787055
31	PDK1	1.21539163
32	LMTK2	1.08977063
33	BRSK2	1.07195618
34	PHKG2	0.97466273
35	PHKG1	0.97466273
36	BRAF	0.94502498
37	NTRK3	0.92246962
38	ADRBK2	0.91800541
39	MET	0.87238764
40	ICK	0.84693920
41	ACVR1B	0.84681905
42	FER	0.84613775
43	EEF2K	0.82764267
44	BRSK1	0.80688725
45	CDK12	0.79923136
46	EIF2AK1	0.79253921
47	DYRK1B	0.78424982
48	NME1	0.78339675
49	SGK494	0.77308454
50	SGK223	0.77308454
51	PRKG2	0.72802373
52	BMPR1B	0.72446944
53	PRKCE	0.70972166
54	FGFR1	0.70358757
55	WNK3	0.68697027
56	NLK	0.68261814
57	CDK7	0.66771661
58	SGK1	0.66377595
59	CAMK1D	0.66178906
60	NEK6	0.65336019
61	PRKCI	0.65302948
62	MAP3K2	0.64743772
63	ARAF	0.63056888
64	OXSR1	0.61549289
65	DAPK2	0.61427268
66	MAPK11	0.61358977
67	PRKG1	0.60271383
68	SGK2	0.58165832
69	MAP2K6	0.56559132
70	TRPM7	0.53873352
71	MAP3K9	0.52393151
72	PRKCG	0.52043007
73	MAPKAPK3	0.50323692
74	PRKAA1	0.49837962
75	TAF1	0.49372008
76	TYRO3	0.47825585
77	SGK3	0.45454538
78	CASK	0.44069766
79	MAP2K2	0.39084396
80	ERBB2	0.38219573
81	CAMK2D	0.37950028
82	MAP3K10	0.37163457
83	CSNK1E	0.35300430
84	TNK2	0.34300938
85	CSNK1A1	0.32046966
86	PRKCZ	0.29099396
87	GSK3B	0.28455958
88	PIM2	0.27885631
89	IRAK2	0.27712840
90	PKN2	0.27615925
91	MTOR	0.27080453
92	STK3	0.26200784
93	PRKACA	0.25620377
94	PAK3	0.25541915
95	UHMK1	0.24531143
96	MKNK2	0.23966914
97	CAMK1	0.22847892
98	ROCK1	0.22259642
99	SIK2	0.21506370
100	CDK1	0.20957930

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	4.35981955
2	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	4.14058693
3	Fatty acid biosynthesis_Homo sapiens_hsa00061	3.37170904
4	Vitamin B6 metabolism_Homo sapiens_hsa00750	2.45211302
5	Butanoate metabolism_Homo sapiens_hsa00650	2.41757595
6	Fat digestion and absorption_Homo sapiens_hsa04975	2.38015506
7	Fatty acid degradation_Homo sapiens_hsa00071	2.24723688
8	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	2.24279099
9	Phenylalanine metabolism_Homo sapiens_hsa00360	2.24049234
10	Complement and coagulation cascades_Homo sapiens_hsa04610	2.05612620
11	Arginine biosynthesis_Homo sapiens_hsa00220	2.02299744
12	Histidine metabolism_Homo sapiens_hsa00340	2.01430503
13	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.81803427
14	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.76310990
15	Fatty acid metabolism_Homo sapiens_hsa01212	1.74521694
16	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.74180944
17	ABC transporters_Homo sapiens_hsa02010	1.72748665
18	Chemical carcinogenesis_Homo sapiens_hsa05204	1.70584328
19	Arginine and proline metabolism_Homo sapiens_hsa00330	1.68608181
20	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.68476653
21	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.60289436
22	Tyrosine metabolism_Homo sapiens_hsa00350	1.59526598
23	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.59242526
24	Retinol metabolism_Homo sapiens_hsa00830	1.49134858
25	beta-Alanine metabolism_Homo sapiens_hsa00410	1.48672700
26	Glycerophospholipid metabolism_Homo sapiens_hsa00564	1.48576049
27	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.48443318
28	PPAR signaling pathway_Homo sapiens_hsa03320	1.45339740
29	Propanoate metabolism_Homo sapiens_hsa00640	1.44460428
30	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.35867690
31	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.34646778
32	Steroid biosynthesis_Homo sapiens_hsa00100	1.34295064
33	Sphingolipid metabolism_Homo sapiens_hsa00600	1.26095449
34	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.26071781
35	Peroxisome_Homo sapiens_hsa04146	1.24726740
36	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.23521205
37	Tryptophan metabolism_Homo sapiens_hsa00380	1.21817549
38	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.18345972
39	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.16782797
40	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.15742273
41	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.14291308
42	Glutathione metabolism_Homo sapiens_hsa00480	1.10437953
43	Bile secretion_Homo sapiens_hsa04976	1.09231205
44	Folate biosynthesis_Homo sapiens_hsa00790	1.08972781
45	Glycerolipid metabolism_Homo sapiens_hsa00561	1.07925366
46	Insulin secretion_Homo sapiens_hsa04911	1.07919070
47	Sulfur metabolism_Homo sapiens_hsa00920	1.05002498
48	Nitrogen metabolism_Homo sapiens_hsa00910	0.99154651
49	Mineral absorption_Homo sapiens_hsa04978	0.98781879
50	Linoleic acid metabolism_Homo sapiens_hsa00591	0.97285206
51	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.94449219
52	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.92293453
53	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.90809020
54	Ether lipid metabolism_Homo sapiens_hsa00565	0.86544859
55	Circadian rhythm_Homo sapiens_hsa04710	0.86213379
56	Renin-angiotensin system_Homo sapiens_hsa04614	0.85548203
57	Pancreatic secretion_Homo sapiens_hsa04972	0.81147863
58	Olfactory transduction_Homo sapiens_hsa04740	0.80744577
59	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.80409615
60	Selenocompound metabolism_Homo sapiens_hsa00450	0.77835203
61	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.76968073
62	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.74964689
63	Other glycan degradation_Homo sapiens_hsa00511	0.74740623
64	Glucagon signaling pathway_Homo sapiens_hsa04922	0.72099841
65	Metabolic pathways_Homo sapiens_hsa01100	0.70992874
66	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.68630648
67	Caffeine metabolism_Homo sapiens_hsa00232	0.68122037
68	Protein digestion and absorption_Homo sapiens_hsa04974	0.65310701
69	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.64023649
70	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.60255914
71	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.60107519
72	Taste transduction_Homo sapiens_hsa04742	0.59536449
73	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.56597737
74	Salivary secretion_Homo sapiens_hsa04970	0.53446635
75	Type I diabetes mellitus_Homo sapiens_hsa04940	0.51813767
76	Tight junction_Homo sapiens_hsa04530	0.51586967
77	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.49957309
78	Type II diabetes mellitus_Homo sapiens_hsa04930	0.48939786
79	Phototransduction_Homo sapiens_hsa04744	0.47856975
80	Renin secretion_Homo sapiens_hsa04924	0.47817652
81	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.47179247
82	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.44743744
83	Serotonergic synapse_Homo sapiens_hsa04726	0.44600535
84	Protein export_Homo sapiens_hsa03060	0.43299020
85	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.43050195
86	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.41615149
87	Huntingtons disease_Homo sapiens_hsa05016	0.40255471
88	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.39256260
89	Lysine degradation_Homo sapiens_hsa00310	0.39085031
90	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.38354000
91	Insulin resistance_Homo sapiens_hsa04931	0.37603935
92	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.33702669
93	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.31827476
94	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.31827363
95	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.30786128
96	Pyruvate metabolism_Homo sapiens_hsa00620	0.27716778
97	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.25357971
98	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.24556919
99	Cardiac muscle contraction_Homo sapiens_hsa04260	0.22458811
100	Collecting duct acid secretion_Homo sapiens_hsa04966	0.20647582

COLCA2

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)

Most similar genes based on co-expression Upload to Enrichr

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