ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of DNA methylation (GO:0044030)	9.21031831
2	multicellular organism reproduction (GO:0032504)	7.52811298
3	piRNA metabolic process (GO:0034587)	7.36311699
4	oocyte development (GO:0048599)	7.29309086
5	meiotic cell cycle (GO:0051321)	6.88258096
6	regulation of meiosis I (GO:0060631)	6.66864748
7	positive regulation of histone H3-K4 methylation (GO:0051571)	6.24036830
8	negative regulation of reproductive process (GO:2000242)	6.17127336
9	protein kinase C signaling (GO:0070528)	6.09371903
10	positive regulation of humoral immune response (GO:0002922)	6.06231630
11	DNA methylation involved in gamete generation (GO:0043046)	5.96870600
12	retinal cone cell development (GO:0046549)	5.96047022
13	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	5.95825719
14	female gamete generation (GO:0007292)	5.64139503
15	regulation of histone H3-K9 methylation (GO:0051570)	5.54015029
16	reproduction (GO:0000003)	5.07701782
17	citrulline biosynthetic process (GO:0019240)	5.06105187
18	glycine transport (GO:0015816)	5.01497028
19	negative regulation of histone methylation (GO:0031061)	4.76767597
20	regulation of steroid hormone secretion (GO:2000831)	4.74526305
21	gene silencing by RNA (GO:0031047)	4.73685772
22	positive regulation of gastrulation (GO:2000543)	4.73605183
23	binding of sperm to zona pellucida (GO:0007339)	4.56805994
24	regulation of cell maturation (GO:1903429)	4.56208682
25	primitive streak formation (GO:0090009)	4.50772502
26	mitotic chromosome condensation (GO:0007076)	4.44989010
27	positive regulation of mitotic sister chromatid separation (GO:1901970)	4.29322528
28	positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	4.29322528
29	positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)	4.29322528
30	regulation of steroid hormone biosynthetic process (GO:0090030)	4.23824113
31	positive regulation of reproductive process (GO:2000243)	4.06069614
32	fertilization (GO:0009566)	4.04854290
33	protein localization to kinetochore (GO:0034501)	3.99649521
34	single fertilization (GO:0007338)	3.96461910
35	mitotic metaphase plate congression (GO:0007080)	3.87242268
36	protein localization to chromosome, centromeric region (GO:0071459)	3.85982833
37	synapsis (GO:0007129)	3.82110714
38	regulation of meiosis (GO:0040020)	3.77493243
39	centriole replication (GO:0007099)	3.75181334
40	positive regulation of chromosome segregation (GO:0051984)	3.72526923
41	regulation of calcium ion-dependent exocytosis (GO:0017158)	3.71720144
42	positive regulation of hormone biosynthetic process (GO:0046886)	3.70032452
43	positive regulation of histone methylation (GO:0031062)	3.68405859
44	regulation of bile acid biosynthetic process (GO:0070857)	3.64132077
45	establishment of chromosome localization (GO:0051303)	3.61990212
46	sperm-egg recognition (GO:0035036)	3.57161647
47	regulation of reproductive process (GO:2000241)	3.55383517
48	synaptonemal complex assembly (GO:0007130)	3.52086464
49	attachment of spindle microtubules to kinetochore (GO:0008608)	3.48178668
50	positive regulation of uterine smooth muscle contraction (GO:0070474)	3.47474213
51	L-amino acid import (GO:0043092)	3.46666093
52	regulation of histone H3-K4 methylation (GO:0051569)	3.45346958
53	DNA methylation (GO:0006306)	3.40361743
54	DNA alkylation (GO:0006305)	3.40361743
55	regulation of hypersensitivity (GO:0002883)	3.36061291
56	negative regulation of execution phase of apoptosis (GO:1900118)	3.35649461
57	phosphorelay signal transduction system (GO:0000160)	3.35441685
58	translesion synthesis (GO:0019985)	3.34935778
59	cholesterol efflux (GO:0033344)	3.34881822
60	drinking behavior (GO:0042756)	3.33174251
61	negative regulation of lipase activity (GO:0060192)	3.33043160
62	metaphase plate congression (GO:0051310)	3.29776200
63	positive regulation of meiosis (GO:0045836)	3.29367073
64	negative regulation of hormone metabolic process (GO:0032351)	3.25585265
65	chromosome organization involved in meiosis (GO:0070192)	3.23560493
66	somite rostral/caudal axis specification (GO:0032525)	3.20607753
67	histone H3-K9 demethylation (GO:0033169)	3.14373128
68	phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)	3.12084339
69	positive regulation of meiotic cell cycle (GO:0051446)	3.11771633
70	gene silencing (GO:0016458)	3.11727517
71	synaptonemal complex organization (GO:0070193)	3.11103728
72	dopamine biosynthetic process (GO:0042416)	3.10981599
73	CENP-A containing nucleosome assembly (GO:0034080)	3.10806862
74	negative regulation of hormone biosynthetic process (GO:0032353)	3.10315098
75	plasma lipoprotein particle assembly (GO:0034377)	3.09837289
76	regulation of meiotic cell cycle (GO:0051445)	3.08814775
77	male meiosis I (GO:0007141)	3.08703650
78	regulation of phospholipid biosynthetic process (GO:0071071)	3.08478006
79	positive regulation of hormone metabolic process (GO:0032352)	3.04078934
80	male meiosis (GO:0007140)	2.99729812
81	oogenesis (GO:0048477)	2.99004301
82	protein localization to chromosome (GO:0034502)	2.98046020
83	regulation of histone methylation (GO:0031060)	2.96045778
84	DNA replication-dependent nucleosome assembly (GO:0006335)	2.95489828
85	DNA replication-dependent nucleosome organization (GO:0034723)	2.95489828
86	interkinetic nuclear migration (GO:0022027)	2.94581656
87	labyrinthine layer development (GO:0060711)	2.93747811
88	DNA damage induced protein phosphorylation (GO:0006975)	2.93687346
89	regulation of spindle organization (GO:0090224)	2.93474999
90	oxidative demethylation (GO:0070989)	2.91205116
91	regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	2.88361520
92	citrulline metabolic process (GO:0000052)	2.84858747
93	type B pancreatic cell development (GO:0003323)	2.83630641
94	positive regulation of cellular amine metabolic process (GO:0033240)	2.81858457
95	regulation of humoral immune response (GO:0002920)	2.80172605
96	meiotic cell cycle process (GO:1903046)	2.78968059
97	chromatin remodeling at centromere (GO:0031055)	2.78955777
98	protein carboxylation (GO:0018214)	2.78411991
99	regulation of acrosome reaction (GO:0060046)	10.4339474
100	regulation of female gonad development (GO:2000194)	10.3301164

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.90807658
2	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.80740258
3	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	3.43087815
4	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	3.22956152
5	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.13244457
6	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.79506263
7	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	2.29101308
8	GBX2_23144817_ChIP-Seq_PC3_Human	2.27485320
9	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.22581097
10	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	2.21548464
11	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	2.21548464
12	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	2.21548464
13	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.19488910
14	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	2.13907846
15	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.08834631
16	EZH2_22144423_ChIP-Seq_EOC_Human	14.0635701
17	E2F7_22180533_ChIP-Seq_HELA_Human	1.99113582
18	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.85810141
19	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.76926975
20	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.63008911
21	AR_21909140_ChIP-Seq_LNCAP_Human	1.61380031
22	IRF1_19129219_ChIP-ChIP_H3396_Human	1.53480998
23	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.52755658
24	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.51531858
25	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.51257124
26	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.45028633
27	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.44227990
28	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.43656307
29	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.35380802
30	TCF4_23295773_ChIP-Seq_U87_Human	1.30547785
31	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.30009351
32	CBP_20019798_ChIP-Seq_JUKART_Human	1.29389385
33	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.29389385
34	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.26577076
35	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.22721576
36	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.20871976
37	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.19578662
38	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.19000262
39	FOXA2_19822575_ChIP-Seq_HepG2_Human	1.16968929
40	HNF4A_19822575_ChIP-Seq_HepG2_Human	1.16095687
41	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.13178109
42	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.10687630
43	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.10561626
44	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.09259091
45	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.08570962
46	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.08464424
47	HTT_18923047_ChIP-ChIP_STHdh_Human	1.08359587
48	AR_25329375_ChIP-Seq_VCAP_Human	1.07350094
49	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.07170122
50	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.05398080
51	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.05025577
52	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.04871640
53	SMAD4_21799915_ChIP-Seq_A2780_Human	1.04849393
54	STAT3_23295773_ChIP-Seq_U87_Human	1.04780233
55	RUNX2_22187159_ChIP-Seq_PCA_Human	1.01308414
56	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.01183548
57	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.01183548
58	RXR_22158963_ChIP-Seq_LIVER_Mouse	0.96655323
59	NANOG_20526341_ChIP-Seq_ESCs_Human	0.96654288
60	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.96148955
61	LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.94827635
62	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.92004286
63	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.91904568
64	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	0.90793141
65	GF1_26923725_Chip-Seq_HPCs_Mouse	0.90575751
66	CBP_21632823_ChIP-Seq_H3396_Human	0.90135079
67	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.87478334
68	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.86739772
69	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	0.86607855
70	AR_20517297_ChIP-Seq_VCAP_Human	0.85799677
71	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.85572450
72	CREB1_15753290_ChIP-ChIP_HEK293T_Human	0.85105410
73	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.83622171
74	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	0.83336115
75	CDX2_22108803_ChIP-Seq_LS180_Human	0.80397599
76	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.80390467
77	FOXO3_23340844_ChIP-Seq_DLD1_Human	0.78224160
78	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.77234339
79	SALL4_22934838_ChIP-ChIP_CD34+_Human	0.77231000
80	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.76780213
81	NANOG_19829295_ChIP-Seq_ESCs_Human	0.76616697
82	SOX2_19829295_ChIP-Seq_ESCs_Human	0.76616697
83	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	0.75806364
84	BCAT_22108803_ChIP-Seq_LS180_Human	0.75564667
85	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.75407895
86	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	0.75188550
87	P300_19829295_ChIP-Seq_ESCs_Human	0.74286359
88	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.74108772
89	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.73792027
90	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.73792027
91	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.73249950
92	BP1_19119308_ChIP-ChIP_Hs578T_Human	0.72087829
93	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.70817755
94	ZNF274_21170338_ChIP-Seq_K562_Hela	0.70688868
95	TCF4_22108803_ChIP-Seq_LS180_Human	0.69798629
96	FUS_26573619_Chip-Seq_HEK293_Human	0.68824218
97	AHR_22903824_ChIP-Seq_MCF-7_Human	0.68722523
98	SMAD4_21741376_ChIP-Seq_HESCs_Human	0.68686950
99	TBX3_20139965_ChIP-Seq_ESCs_Mouse	0.66756387
100	VDR_22108803_ChIP-Seq_LS180_Human	0.66666588

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003718_maternal_effect	7.15610485
2	MP0002139_abnormal_hepatobiliary_system	5.85076576
3	MP0006292_abnormal_olfactory_placode	5.47894003
4	MP0005360_urolithiasis	4.84498884
5	MP0002138_abnormal_hepatobiliary_system	3.78670768
6	MP0008877_abnormal_DNA_methylation	3.65865158
7	MP0008789_abnormal_olfactory_epithelium	3.04539925
8	MP0005395_other_phenotype	2.99400344
9	MP0005085_abnormal_gallbladder_physiolo	2.70793627
10	MP0005394_taste/olfaction_phenotype	2.70372431
11	MP0005499_abnormal_olfactory_system	2.70372431
12	MP0003195_calcinosis	2.66166710
13	MP0003890_abnormal_embryonic-extraembry	2.65976159
14	MP0010030_abnormal_orbit_morphology	2.29261842
15	MP0003136_yellow_coat_color	2.28390265
16	MP0001666_abnormal_nutrient_absorption	2.28271330
17	MP0000566_synostosis	2.24969844
18	MP0003868_abnormal_feces_composition	2.21546710
19	MP0003699_abnormal_female_reproductive	2.18317349
20	MP0003252_abnormal_bile_duct	2.00951882
21	MP0003693_abnormal_embryo_hatching	1.95887198
22	MP0001929_abnormal_gametogenesis	1.88749386
23	MP0009840_abnormal_foam_cell	1.86116361
24	MP0003183_abnormal_peptide_metabolism	1.83340110
25	MP0005365_abnormal_bile_salt	1.80221964
26	MP0003879_abnormal_hair_cell	1.76680069
27	MP0008057_abnormal_DNA_replication	1.74520200
28	MP0003950_abnormal_plasma_membrane	1.67606935
29	MP0002210_abnormal_sex_determination	1.65939341
30	MP0003121_genomic_imprinting	1.61002222
31	MP0005410_abnormal_fertilization	1.60459068
32	MP0008058_abnormal_DNA_repair	1.59575087
33	MP0002234_abnormal_pharynx_morphology	1.58973026
34	MP0001293_anophthalmia	1.45439209
35	MP0000653_abnormal_sex_gland	1.44111379
36	MP0010094_abnormal_chromosome_stability	1.44007133
37	MP0002161_abnormal_fertility/fecundity	1.40070514
38	MP0003077_abnormal_cell_cycle	1.36929388
39	MP0002160_abnormal_reproductive_system	1.28894567
40	MP0010234_abnormal_vibrissa_follicle	1.24798833
41	MP0008875_abnormal_xenobiotic_pharmacok	1.21059908
42	MP0010368_abnormal_lymphatic_system	1.20832362
43	MP0001119_abnormal_female_reproductive	1.17494661
44	MP0002233_abnormal_nose_morphology	1.13625424
45	MP0010329_abnormal_lipoprotein_level	1.11853317
46	MP0005646_abnormal_pituitary_gland	1.11107225
47	MP0000631_abnormal_neuroendocrine_gland	1.08037443
48	MP0001730_embryonic_growth_arrest	1.06475851
49	MP0005551_abnormal_eye_electrophysiolog	1.03684904
50	MP0003111_abnormal_nucleus_morphology	1.02387274
51	MP0001984_abnormal_olfaction	1.00618169
52	MP0001145_abnormal_male_reproductive	1.00059433
53	MP0004142_abnormal_muscle_tone	0.99202821
54	MP0002090_abnormal_vision	0.99180030
55	MP0003119_abnormal_digestive_system	0.98804443
56	MP0000427_abnormal_hair_cycle	0.96874615
57	MP0005389_reproductive_system_phenotype	0.92395837
58	MP0005647_abnormal_sex_gland	0.92163418
59	MP0003698_abnormal_male_reproductive	0.91791173
60	MP0010307_abnormal_tumor_latency	0.91468294
61	MP0003122_maternal_imprinting	0.91012292
62	MP0002089_abnormal_postnatal_growth/wei	0.88997087
63	MP0001324_abnormal_eye_pigmentation	0.88771589
64	MP0009697_abnormal_copulation	0.83783068
65	MP0004019_abnormal_vitamin_homeostasis	0.81946713
66	MP0005380_embryogenesis_phenotype	0.78880339
67	MP0001672_abnormal_embryogenesis/_devel	0.78880339
68	MP0001664_abnormal_digestion	0.75682431
69	MP0008932_abnormal_embryonic_tissue	0.72915119
70	MP0002928_abnormal_bile_duct	0.72772428
71	MP0001986_abnormal_taste_sensitivity	0.72117236
72	MP0002272_abnormal_nervous_system	0.71298943
73	MP0000762_abnormal_tongue_morphology	0.69591287
74	MP0001764_abnormal_homeostasis	0.69406096
75	MP0003941_abnormal_skin_development	0.65071801
76	MP0005332_abnormal_amino_acid	0.62223522
77	MP0004381_abnormal_hair_follicle	0.62117252
78	MP0002118_abnormal_lipid_homeostasis	0.61974722
79	MP0005319_abnormal_enzyme/_coenzyme	0.60524908
80	MP0010678_abnormal_skin_adnexa	0.59956071
81	MP0001502_abnormal_circadian_rhythm	0.55366661
82	MP0002277_abnormal_respiratory_mucosa	0.55314943
83	MP0002638_abnormal_pupillary_reflex	0.52051171
84	MP0006276_abnormal_autonomic_nervous	0.50352258
85	MP0005408_hypopigmentation	0.48979654
86	MP0002876_abnormal_thyroid_physiology	0.47378955
87	MP0000350_abnormal_cell_proliferation	0.44409901
88	MP0002084_abnormal_developmental_patter	0.42430916
89	MP0005076_abnormal_cell_differentiation	0.42232256
90	MP0001286_abnormal_eye_development	0.41261830
91	MP0004043_abnormal_pH_regulation	0.40283125
92	MP0002132_abnormal_respiratory_system	0.39790157
93	MP0008995_early_reproductive_senescence	0.39601766
94	MP0003959_abnormal_lean_body	0.39337367
95	MP0005075_abnormal_melanosome_morpholog	0.38870680
96	MP0002092_abnormal_eye_morphology	0.37464839
97	MP0003567_abnormal_fetal_cardiomyocyte	0.36991739
98	MP0004957_abnormal_blastocyst_morpholog	0.36956177
99	MP0003984_embryonic_growth_retardation	0.36645758
100	MP0001963_abnormal_hearing_physiology	0.36546282

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Supernumerary spleens (HP:0009799)	5.43171730
2	Osteomalacia (HP:0002749)	5.23203171
3	Septo-optic dysplasia (HP:0100842)	5.14445681
4	Abnormal gallbladder physiology (HP:0012438)	4.68675578
5	Cholecystitis (HP:0001082)	4.68675578
6	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	4.52464986
7	Deep venous thrombosis (HP:0002625)	4.48435574
8	Hypophosphatemic rickets (HP:0004912)	4.33007630
9	Hypoplasia of the fovea (HP:0007750)	4.10023664
10	Aplasia/Hypoplasia of the fovea (HP:0008060)	4.10023664
11	Abnormality of aromatic amino acid family metabolism (HP:0004338)	4.05167723
12	Impulsivity (HP:0100710)	4.00110852
13	Abnormality of monocarboxylic acid metabolism (HP:0010996)	3.99489731
14	Anterior segment dysgenesis (HP:0007700)	3.78539040
15	Abdominal situs inversus (HP:0003363)	3.70558351
16	Abnormality of abdominal situs (HP:0011620)	3.70558351
17	Facial hemangioma (HP:0000329)	3.65396568
18	Prolonged partial thromboplastin time (HP:0003645)	3.60420096
19	Premature ovarian failure (HP:0008209)	3.59267573
20	Absent septum pellucidum (HP:0001331)	3.50121771
21	Intrahepatic cholestasis (HP:0001406)	3.46777221
22	Lip pit (HP:0100267)	3.42344496
23	Abnormal biliary tract physiology (HP:0012439)	3.37737534
24	Bile duct proliferation (HP:0001408)	3.37737534
25	Chromsome breakage (HP:0040012)	3.36788394
26	Abnormality of the fovea (HP:0000493)	3.36628555
27	Papillary thyroid carcinoma (HP:0002895)	3.33861674
28	Azoospermia (HP:0000027)	3.26154255
29	Proximal tubulopathy (HP:0000114)	3.24994353
30	Chromosomal breakage induced by crosslinking agents (HP:0003221)	3.20199128
31	Generalized aminoaciduria (HP:0002909)	3.18590529
32	Male infertility (HP:0003251)	3.15366296
33	Oligodactyly (hands) (HP:0001180)	3.03074595
34	Lower limb hyperreflexia (HP:0002395)	2.87279879
35	Hypokinesia (HP:0002375)	2.85926618
36	Abnormality of the septum pellucidum (HP:0007375)	2.78994001
37	Infertility (HP:0000789)	2.73522892
38	Maternal diabetes (HP:0009800)	2.66838684
39	Short tibia (HP:0005736)	2.62046247
40	Elevated circulating parathyroid hormone (PTH) level (HP:0003165)	2.56465298
41	Malnutrition (HP:0004395)	2.54776321
42	Gonadotropin excess (HP:0000837)	2.51963012
43	Aplasia of the musculature (HP:0100854)	2.51948635
44	Metaphyseal irregularity (HP:0003025)	2.50338241
45	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.50008114
46	Fair hair (HP:0002286)	2.49969845
47	Abnormality of the labia minora (HP:0012880)	2.49152976
48	Broad alveolar ridges (HP:0000187)	2.48099758
49	Median cleft lip (HP:0000161)	2.44103794
50	Aplasia/Hypoplasia of the macula (HP:0008059)	2.43632273
51	Diminished motivation (HP:0000745)	2.41170266
52	Apathy (HP:0000741)	2.40203864
53	Skin pits (HP:0100276)	2.30829839
54	Aplasia/Hypoplasia affecting the retina (HP:0008061)	2.21749345
55	Hypoglycemic coma (HP:0001325)	2.19158197
56	Abnormal spermatogenesis (HP:0008669)	2.18218568
57	Renal cortical cysts (HP:0000803)	2.17840869
58	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.15905566
59	Hyperglycinemia (HP:0002154)	2.08666153
60	Anhidrosis (HP:0000970)	2.06980643
61	Wrist flexion contracture (HP:0001239)	2.06169568
62	Congenital sensorineural hearing impairment (HP:0008527)	2.06130328
63	Rickets (HP:0002748)	2.05827509
64	Hypohidrosis (HP:0000966)	2.05303334
65	Nausea (HP:0002018)	2.04757645
66	Capillary hemangiomas (HP:0005306)	2.03215543
67	Meckel diverticulum (HP:0002245)	2.02972489
68	Joint hemorrhage (HP:0005261)	2.00193057
69	Abnormality of the ileum (HP:0001549)	1.98540454
70	Conjunctival telangiectasia (HP:0000524)	1.97736489
71	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	1.95932217
72	Dysdiadochokinesis (HP:0002075)	1.95152963
73	Abnormality of glutamine family amino acid metabolism (HP:0010902)	1.94552981
74	Oligodactyly (HP:0012165)	1.94477555
75	Prenatal maternal abnormality (HP:0002686)	1.93853954
76	Muscle stiffness (HP:0003552)	1.90622030
77	Optic nerve hypoplasia (HP:0000609)	1.89912977
78	Hypoalphalipoproteinemia (HP:0003233)	1.87869905
79	Enlarged penis (HP:0000040)	1.87607644
80	Nephroblastoma (Wilms tumor) (HP:0002667)	1.87515368
81	Periauricular skin pits (HP:0100277)	1.87000112
82	Preauricular pit (HP:0004467)	1.87000112
83	Striae distensae (HP:0001065)	1.86558126
84	Secondary amenorrhea (HP:0000869)	1.86400804
85	Spinal cord compression (HP:0002176)	1.85247208
86	Abnormality of calcium-phosphate metabolism (HP:0100530)	1.84677344
87	Loss of speech (HP:0002371)	1.83171816
88	Bicornuate uterus (HP:0000813)	1.82562214
89	Hypergonadotropic hypogonadism (HP:0000815)	1.82281129
90	Abnormality of carpal bone ossification (HP:0006257)	1.81377106
91	Elevated alkaline phosphatase (HP:0003155)	1.81048545
92	Microglossia (HP:0000171)	1.80537912
93	Hypobetalipoproteinemia (HP:0003563)	1.80389847
94	Abnormality of pyrimidine metabolism (HP:0004353)	1.79209889
95	Absent radius (HP:0003974)	1.77948357
96	Abnormality of DNA repair (HP:0003254)	1.77755494
97	Abnormality of alkaline phosphatase activity (HP:0004379)	1.76676366
98	Urethral obstruction (HP:0000796)	1.76239773
99	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.75433952
100	Limb hypertonia (HP:0002509)	1.75130255

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP3K9	5.96424377
2	ARAF	5.49651612
3	MAP3K13	5.02767255
4	CDK12	3.34237488
5	TTK	3.01036190
6	STK24	2.98978413
7	TAOK3	2.97462237
8	NEK6	2.88771721
9	BRAF	2.78695292
10	MET	2.51407715
11	AURKA	2.14930188
12	TRIM28	1.99367261
13	MOS	1.95197671
14	STK3	1.79071949
15	CDK9	1.74444718
16	EIF2AK3	1.64899722
17	NEK2	1.60402748
18	PRKCI	1.59334177
19	CDC7	1.53553197
20	NTRK2	1.50968409
21	CDK7	1.48002972
22	TNIK	1.40716785
23	RAF1	1.36471912
24	KSR2	1.35149697
25	MELK	1.32826905
26	PLK1	1.30965433
27	ZAK	1.29305190
28	BRSK1	1.16773345
29	PIM1	1.13931106
30	BMPR1B	1.11252282
31	NUAK1	1.07132418
32	BUB1	1.02971808
33	MST4	0.98126700
34	BRSK2	0.94297002
35	WNK1	0.93809396
36	CDK19	0.93168189
37	PLK3	0.90867351
38	STK39	0.90438482
39	MAP3K8	0.81335312
40	CSNK1D	0.80300576
41	MAPKAPK3	0.79485717
42	TIE1	0.76966433
43	CHEK1	0.75464605
44	FGFR2	0.75085169
45	KSR1	0.72411501
46	CHEK2	0.71359149
47	CDK2	0.68628951
48	CDK8	0.68110444
49	AURKB	0.66774076
50	TYRO3	0.66380403
51	NEK9	0.66374735
52	PBK	0.65858982
53	ATM	0.65219191
54	PTK2	0.63924419
55	PRKCZ	0.63721323
56	AKT3	0.63263621
57	PRKG1	0.63072117
58	BRD4	0.61838239
59	CSNK1G1	0.60494751
60	MARK3	0.59457737
61	CSNK1E	0.58008672
62	WNK4	0.55080030
63	CDK1	0.53985474
64	TGFBR1	0.52168019
65	NTRK3	0.52000985
66	ACVR1B	0.50813283
67	FGFR3	0.50176551
68	PDK1	0.49859403
69	TNK2	0.47927323
70	TLK1	0.47090226
71	FRK	0.46609860
72	PINK1	0.45363781
73	FGFR4	0.44800998
74	VRK1	0.43632226
75	EEF2K	0.42994117
76	LATS1	0.42960133
77	PDK2	0.42452023
78	ATR	0.41997912
79	MAP3K5	0.40911296
80	MTOR	0.39003893
81	MAPK13	0.38577433
82	PNCK	0.38142991
83	DMPK	0.37477722
84	PRKACA	0.34239477
85	PRKACB	0.34232998
86	PAK1	0.32298015
87	PDPK1	0.32253713
88	PIK3CA	0.31671771
89	CHUK	0.31664776
90	PKN1	0.29677040
91	WNK3	0.29115443
92	CDK5	0.28988964
93	PRKAA2	0.28061244
94	RPS6KB1	0.27146542
95	GSK3B	0.26660630
96	SRPK1	0.26536960
97	FLT3	0.26424097
98	CAMK2A	0.26075736
99	LMTK2	0.25683239
100	PLK4	0.24866252

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Basal transcription factors_Homo sapiens_hsa03022	3.59029221
2	Ovarian steroidogenesis_Homo sapiens_hsa04913	2.93400984
3	Cell cycle_Homo sapiens_hsa04110	2.87100436
4	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.75357756
5	Complement and coagulation cascades_Homo sapiens_hsa04610	2.69732263
6	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.68262976
7	Caffeine metabolism_Homo sapiens_hsa00232	2.67085730
8	Mismatch repair_Homo sapiens_hsa03430	2.56720808
9	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	2.55744752
10	Arginine biosynthesis_Homo sapiens_hsa00220	2.49202446
11	Cysteine and methionine metabolism_Homo sapiens_hsa00270	2.47137402
12	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.24750727
13	Oocyte meiosis_Homo sapiens_hsa04114	2.11844139
14	Base excision repair_Homo sapiens_hsa03410	2.07713788
15	RNA degradation_Homo sapiens_hsa03018	2.03338895
16	Bile secretion_Homo sapiens_hsa04976	1.85240791
17	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.66828392
18	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.64197763
19	Fanconi anemia pathway_Homo sapiens_hsa03460	1.59946423
20	Retinol metabolism_Homo sapiens_hsa00830	1.59567383
21	ABC transporters_Homo sapiens_hsa02010	1.59103781
22	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.57828777
23	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.56400348
24	Nucleotide excision repair_Homo sapiens_hsa03420	1.53735313
25	Folate biosynthesis_Homo sapiens_hsa00790	1.53302468
26	Fatty acid elongation_Homo sapiens_hsa00062	1.52804477
27	Homologous recombination_Homo sapiens_hsa03440	1.48683958
28	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.45707979
29	Circadian rhythm_Homo sapiens_hsa04710	1.45294518
30	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.43554610
31	Histidine metabolism_Homo sapiens_hsa00340	1.38811194
32	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.35804958
33	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.33083670
34	Chemical carcinogenesis_Homo sapiens_hsa05204	1.30373871
35	DNA replication_Homo sapiens_hsa03030	1.29080364
36	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.28280817
37	Olfactory transduction_Homo sapiens_hsa04740	1.28145752
38	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.27875974
39	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.27175532
40	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.26944373
41	RNA polymerase_Homo sapiens_hsa03020	1.24463527
42	Phototransduction_Homo sapiens_hsa04744	1.24197356
43	Arginine and proline metabolism_Homo sapiens_hsa00330	1.22567988
44	RNA transport_Homo sapiens_hsa03013	1.15816898
45	Fat digestion and absorption_Homo sapiens_hsa04975	1.15124756
46	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.14640310
47	p53 signaling pathway_Homo sapiens_hsa04115	1.10372135
48	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.10333486
49	Lysine degradation_Homo sapiens_hsa00310	1.09052480
50	Propanoate metabolism_Homo sapiens_hsa00640	1.07660395
51	Linoleic acid metabolism_Homo sapiens_hsa00591	1.05963060
52	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.03901712
53	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.00560393
54	Sulfur metabolism_Homo sapiens_hsa00920	0.99733244
55	Peroxisome_Homo sapiens_hsa04146	0.97100426
56	PPAR signaling pathway_Homo sapiens_hsa03320	0.94208444
57	Butanoate metabolism_Homo sapiens_hsa00650	0.93471602
58	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.93270529
59	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.88646725
60	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.87146263
61	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.82333277
62	Pyruvate metabolism_Homo sapiens_hsa00620	0.80198536
63	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.78144396
64	Phenylalanine metabolism_Homo sapiens_hsa00360	0.77488150
65	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.77383551
66	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.72612713
67	Fatty acid degradation_Homo sapiens_hsa00071	0.71668954
68	Tryptophan metabolism_Homo sapiens_hsa00380	0.66604147
69	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.66568916
70	Steroid biosynthesis_Homo sapiens_hsa00100	0.61949588
71	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.59313106
72	mRNA surveillance pathway_Homo sapiens_hsa03015	0.55072514
73	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.53573124
74	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.53398684
75	beta-Alanine metabolism_Homo sapiens_hsa00410	0.52792185
76	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.50944741
77	Gap junction_Homo sapiens_hsa04540	0.50488828
78	Selenocompound metabolism_Homo sapiens_hsa00450	0.49816588
79	Tyrosine metabolism_Homo sapiens_hsa00350	0.48891361
80	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.47535109
81	Metabolic pathways_Homo sapiens_hsa01100	0.46901163
82	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.46804781
83	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.42368241
84	Purine metabolism_Homo sapiens_hsa00230	0.39352004
85	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.38894425
86	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.32396215
87	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.29557752
88	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.29187671
89	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.28708999
90	One carbon pool by folate_Homo sapiens_hsa00670	0.26642905
91	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.26450198
92	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.25153949
93	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.24448073
94	GABAergic synapse_Homo sapiens_hsa04727	0.24129037
95	Glycerolipid metabolism_Homo sapiens_hsa00561	0.23709607
96	Non-homologous end-joining_Homo sapiens_hsa03450	0.21459432
97	Ether lipid metabolism_Homo sapiens_hsa00565	0.19320545
98	Serotonergic synapse_Homo sapiens_hsa04726	0.17489574
99	Taste transduction_Homo sapiens_hsa04742	0.16192701
100	Thyroid cancer_Homo sapiens_hsa05216	0.15611182

NCAPD2P1

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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