ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	male meiosis I (GO:0007141)	6.88866737
2	meiosis I (GO:0007127)	5.95876083
3	transcription from mitochondrial promoter (GO:0006390)	4.76793824
4	regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	4.72893103
5	regulation of DNA methylation (GO:0044030)	4.45754979
6	positive regulation of protein homooligomerization (GO:0032464)	4.41713768
7	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	38.9810644
8	regulation of retinoic acid receptor signaling pathway (GO:0048385)	32.6657667
9	autophagic vacuole assembly (GO:0000045)	3.93270729
10	male meiosis (GO:0007140)	3.81205473
11	regulation of acrosome reaction (GO:0060046)	3.81054877
12	mitotic chromosome condensation (GO:0007076)	3.77931816
13	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	3.72642665
14	rRNA modification (GO:0000154)	3.71324900
15	mitotic metaphase plate congression (GO:0007080)	3.67272654
16	chaperone-mediated protein transport (GO:0072321)	3.61319071
17	ribosome assembly (GO:0042255)	3.54952392
18	attachment of spindle microtubules to kinetochore (GO:0008608)	3.46335689
19	regulation of G0 to G1 transition (GO:0070316)	3.44520819
20	multicellular organism reproduction (GO:0032504)	3.37732973
21	regulation of spindle organization (GO:0090224)	3.37551902
22	positive regulation of uterine smooth muscle contraction (GO:0070474)	3.31229811
23	ventricular cardiac muscle cell development (GO:0055015)	3.20772640
24	regulation of female receptivity (GO:0045924)	3.10196506
25	aggressive behavior (GO:0002118)	3.09393175
26	histone H3-K9 demethylation (GO:0033169)	3.06907099
27	regulation of mitotic spindle organization (GO:0060236)	3.05966343
28	maturation of SSU-rRNA (GO:0030490)	2.99848923
29	protein localization to chromosome, centromeric region (GO:0071459)	2.97940917
30	meiotic cell cycle (GO:0051321)	2.96842796
31	snRNA transcription (GO:0009301)	2.96226399
32	rRNA methylation (GO:0031167)	2.93319048
33	regulation of exit from mitosis (GO:0007096)	2.90778248
34	drinking behavior (GO:0042756)	2.89985722
35	metaphase plate congression (GO:0051310)	2.88053742
36	regulation of female gonad development (GO:2000194)	2.86734228
37	regulation of histone H3-K9 methylation (GO:0051570)	2.83723728
38	meiotic nuclear division (GO:0007126)	2.80417097
39	polyamine biosynthetic process (GO:0006596)	2.80186917
40	skeletal muscle tissue regeneration (GO:0043403)	2.79930369
41	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.78345810
42	termination of RNA polymerase III transcription (GO:0006386)	2.78345810
43	response to UV-C (GO:0010225)	2.73743561
44	hyperosmotic salinity response (GO:0042538)	2.73332004
45	positive regulation of chromosome segregation (GO:0051984)	2.70370557
46	regulation of cytokine production involved in inflammatory response (GO:1900015)	2.69182272
47	oocyte development (GO:0048599)	2.68948491
48	regulation of penile erection (GO:0060405)	2.66946426
49	female mating behavior (GO:0060180)	2.64603064
50	positive regulation of catecholamine secretion (GO:0033605)	2.63826604
51	regulation of RNA export from nucleus (GO:0046831)	2.59385118
52	ribosomal small subunit biogenesis (GO:0042274)	2.59208071
53	meiotic cell cycle process (GO:1903046)	2.58227007
54	positive regulation of cytokinesis (GO:0032467)	2.57670829
55	negative regulation of reproductive process (GO:2000242)	2.55796652
56	oocyte maturation (GO:0001556)	2.54686137
57	positive regulation of histone H3-K4 methylation (GO:0051571)	2.51423765
58	mitochondrial RNA metabolic process (GO:0000959)	2.50966345
59	regulation of uterine smooth muscle contraction (GO:0070472)	2.50875789
60	positive regulation of prostaglandin secretion (GO:0032308)	2.50514195
61	piRNA metabolic process (GO:0034587)	2.49772612
62	protein K6-linked ubiquitination (GO:0085020)	2.48584591
63	chaperone mediated protein folding requiring cofactor (GO:0051085)	2.47319901
64	N-terminal protein amino acid acetylation (GO:0006474)	2.47135824
65	positive regulation of cAMP-mediated signaling (GO:0043950)	2.44293889
66	positive regulation of digestive system process (GO:0060456)	2.39300913
67	very-low-density lipoprotein particle assembly (GO:0034379)	2.39081358
68	regulation of G2/M transition of mitotic cell cycle (GO:0010389)	2.38522683
69	kinetochore assembly (GO:0051382)	2.36985407
70	protein kinase C signaling (GO:0070528)	2.36642919
71	regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	2.33113219
72	positive regulation of humoral immune response (GO:0002922)	2.30697293
73	negative regulation of digestive system process (GO:0060457)	2.29503839
74	reproduction (GO:0000003)	2.28858079
75	chromosome condensation (GO:0030261)	2.27508129
76	sleep (GO:0030431)	2.26563079
77	response to acidic pH (GO:0010447)	2.26338554
78	nuclear pore complex assembly (GO:0051292)	2.25915746
79	telomere maintenance via telomere lengthening (GO:0010833)	2.25746773
80	positive regulation of protein oligomerization (GO:0032461)	2.25455944
81	rRNA processing (GO:0006364)	2.24520558
82	transcription from RNA polymerase III promoter (GO:0006383)	2.23005782
83	DNA replication initiation (GO:0006270)	2.20751876
84	regulation of cell cycle G2/M phase transition (GO:1902749)	2.19447809
85	ribosome biogenesis (GO:0042254)	2.19422813
86	regulation of transforming growth factor beta2 production (GO:0032909)	2.18104455
87	regulation of protein homooligomerization (GO:0032462)	2.17965824
88	nuclear pore organization (GO:0006999)	2.17043039
89	rRNA metabolic process (GO:0016072)	2.14042661
90	ribonucleoprotein complex biogenesis (GO:0022613)	2.12484894
91	regulation of meiosis I (GO:0060631)	2.10754312
92	histone mRNA metabolic process (GO:0008334)	2.09068132
93	regulation of prostaglandin secretion (GO:0032306)	2.08661293
94	establishment of chromosome localization (GO:0051303)	2.08441014
95	CENP-A containing nucleosome assembly (GO:0034080)	2.07967753
96	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	2.07941823
97	cellular response to pH (GO:0071467)	2.07870425
98	retinal cone cell development (GO:0046549)	2.07458648
99	negative regulation of phosphoprotein phosphatase activity (GO:0032515)	2.07340499
100	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO	2.06251469

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	5.58668022
2	NOTCH1_21737748_ChIP-Seq_TLL_Human	4.78873125
3	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	4.77764948
4	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	4.77764948
5	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	4.77764948
6	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	4.65669039
7	EZH2_22144423_ChIP-Seq_EOC_Human	4.13483783
8	E2F7_22180533_ChIP-Seq_HELA_Human	4.11511454
9	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.03431609
10	FOXM1_23109430_ChIP-Seq_U2OS_Human	3.73979569
11	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.27836061
12	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.17592733
13	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.99305881
14	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.88923782
15	TP63_19390658_ChIP-ChIP_HaCaT_Human	2.74169526
16	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.69972757
17	ZNF274_21170338_ChIP-Seq_K562_Hela	2.67695004
18	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.63490630
19	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.60966214
20	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.44028113
21	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.43813468
22	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.43659526
23	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.31614752
24	ETV1_20927104_ChIP-Seq_GIST48_Human	2.23815675
25	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.18715088
26	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.07882008
27	RBPJ_21746931_ChIP-Seq_IB4_Human	2.05850227
28	AR_21909140_ChIP-Seq_LNCAP_Human	2.05484266
29	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.96477086
30	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.95059905
31	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.82291387
32	TBL1_22424771_ChIP-Seq_293T_Human	1.79604220
33	PHF8_20622853_ChIP-Seq_HELA_Human	1.79266000
34	NFYB_21822215_ChIP-Seq_K562_Human	1.76304931
35	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.75767189
36	ZNF263_19887448_ChIP-Seq_K562_Human	1.72861564
37	TTF2_22483619_ChIP-Seq_HELA_Human	1.67810946
38	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.67338985
39	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.64540633
40	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.62472196
41	VDR_23849224_ChIP-Seq_CD4+_Human	1.62004184
42	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.60507415
43	MYC_18940864_ChIP-ChIP_HL60_Human	1.56370109
44	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.54595233
45	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.53201411
46	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.52660058
47	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.47799531
48	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.45958763
49	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.45548701
50	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.43039727
51	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.42380388
52	XRN2_22483619_ChIP-Seq_HELA_Human	1.39901163
53	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.39028685
54	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.33625035
55	GABP_19822575_ChIP-Seq_HepG2_Human	1.32093872
56	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.26999158
57	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.23594490
58	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.20878634
59	FOXP3_21729870_ChIP-Seq_TREG_Human	1.16767774
60	NFYA_21822215_ChIP-Seq_K562_Human	1.15964581
61	KAP1_22055183_ChIP-Seq_ESCs_Mouse	1.09655866
62	LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.02934600
63	RAC3_21632823_ChIP-Seq_H3396_Human	1.02909652
64	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	1.02639606
65	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.02088697
66	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.01551631
67	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	0.98282827
68	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	0.98173985
69	TP53_22573176_ChIP-Seq_HFKS_Human	0.98147304
70	CIITA_25753668_ChIP-Seq_RAJI_Human	0.94636996
71	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	0.92563841
72	MYCN_18555785_ChIP-Seq_MESCs_Mouse	0.91295909
73	KDM5A_27292631_Chip-Seq_BREAST_Human	0.90814823
74	IRF1_19129219_ChIP-ChIP_H3396_Human	0.89099542
75	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.86408797
76	STAT1_20625510_ChIP-Seq_HELA_Human	0.85971983
77	CTCF_20526341_ChIP-Seq_ESCs_Human	0.85887842
78	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	0.85852221
79	ELK1_19687146_ChIP-ChIP_HELA_Human	0.84738593
80	SOX2_18555785_ChIP-Seq_MESCs_Mouse	0.83912318
81	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.83898306
82	NANOG_20526341_ChIP-Seq_ESCs_Human	0.83452753
83	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.81290028
84	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.80850132
85	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.78497640
86	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	0.77532910
87	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.76905728
88	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	0.75622317
89	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.74543187
90	E2F1_21310950_ChIP-Seq_MCF-7_Human	0.74179815
91	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	0.73230544
92	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.72580283
93	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	0.71930398
94	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	0.71670109
95	KLF4_18555785_ChIP-Seq_MESCs_Mouse	0.68829746
96	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.67970645
97	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	0.67831354
98	CTCF_21964334_Chip-Seq_Bcells_Human	0.66814188
99	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.65553494
100	E2F1_20622854_ChIP-Seq_HELA_Human	0.64878199

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001986_abnormal_taste_sensitivity	6.91854645
2	MP0005423_abnormal_somatic_nervous	6.20401280
3	MP0006292_abnormal_olfactory_placode	5.41507552
4	MP0003718_maternal_effect	4.54752886
5	MP0009379_abnormal_foot_pigmentation	3.46804635
6	MP0003693_abnormal_embryo_hatching	3.33690602
7	MP0005394_taste/olfaction_phenotype	2.88671597
8	MP0005499_abnormal_olfactory_system	2.88671597
9	MP0008260_abnormal_autophagy	2.82119655
10	MP0010307_abnormal_tumor_latency	2.81544193
11	MP0004957_abnormal_blastocyst_morpholog	2.72556769
12	MP0003111_abnormal_nucleus_morphology	2.68610404
13	MP0002127_abnormal_cardiovascular_syste	2.66871006
14	MP0010030_abnormal_orbit_morphology	2.49242571
15	MP0003077_abnormal_cell_cycle	2.39162892
16	MP0002160_abnormal_reproductive_system	2.36691126
17	MP0002277_abnormal_respiratory_mucosa	2.27496692
18	MP0009333_abnormal_splenocyte_physiolog	2.11765033
19	MP0001929_abnormal_gametogenesis	2.11328975
20	MP0008057_abnormal_DNA_replication	2.10415679
21	MP0010094_abnormal_chromosome_stability	2.02804457
22	MP0003646_muscle_fatigue	2.02613363
23	MP0008877_abnormal_DNA_methylation	1.98366808
24	MP0002210_abnormal_sex_determination	1.98114574
25	MP0008058_abnormal_DNA_repair	1.97834019
26	MP0008789_abnormal_olfactory_epithelium	1.89418959
27	MP0005410_abnormal_fertilization	1.77684220
28	MP0005395_other_phenotype	1.70779951
29	MP0005389_reproductive_system_phenotype	1.58671360
30	MP0001881_abnormal_mammary_gland	1.53668649
31	MP0003136_yellow_coat_color	1.52460534
32	MP0009840_abnormal_foam_cell	1.48719596
33	MP0003699_abnormal_female_reproductive	1.42617106
34	MP0001672_abnormal_embryogenesis/_devel	1.41159934
35	MP0005380_embryogenesis_phenotype	1.41159934
36	MP0003121_genomic_imprinting	1.32611465
37	MP0002161_abnormal_fertility/fecundity	1.31729248
38	MP0008932_abnormal_embryonic_tissue	1.30148513
39	MP0002138_abnormal_hepatobiliary_system	1.29806793
40	MP0000653_abnormal_sex_gland	1.27659606
41	MP0001730_embryonic_growth_arrest	1.26574054
42	MP0006276_abnormal_autonomic_nervous	1.25269133
43	MP0000350_abnormal_cell_proliferation	1.23965232
44	MP0003698_abnormal_male_reproductive	1.22700673
45	MP0001293_anophthalmia	1.20012790
46	MP0003984_embryonic_growth_retardation	1.16821017
47	MP0001145_abnormal_male_reproductive	1.14828317
48	MP0005647_abnormal_sex_gland	1.12800238
49	MP0006036_abnormal_mitochondrial_physio	1.12740057
50	MP0003938_abnormal_ear_development	1.12392762
51	MP0002088_abnormal_embryonic_growth/wei	1.10449460
52	MP0005360_urolithiasis	1.09551437
53	MP0000049_abnormal_middle_ear	1.09047572
54	MP0001697_abnormal_embryo_size	1.01145344
55	MP0002234_abnormal_pharynx_morphology	0.99574547
56	MP0002254_reproductive_system_inflammat	0.97724358
57	MP0010368_abnormal_lymphatic_system	0.90743710
58	MP0002233_abnormal_nose_morphology	0.90717288
59	MP0001666_abnormal_nutrient_absorption	0.90582294
60	MP0000358_abnormal_cell_content/	0.89762397
61	MP0001502_abnormal_circadian_rhythm	0.83900446
62	MP0008995_early_reproductive_senescence	0.83838566
63	MP0003890_abnormal_embryonic-extraembry	0.81434989
64	MP0000372_irregular_coat_pigmentation	0.80255949
65	MP0001545_abnormal_hematopoietic_system	0.77470246
66	MP0005397_hematopoietic_system_phenotyp	0.77470246
67	MP0000627_abnormal_mammary_gland	0.76312096
68	MP0005646_abnormal_pituitary_gland	0.75571363
69	MP0002085_abnormal_embryonic_tissue	0.75468436
70	MP0001119_abnormal_female_reproductive	0.75239424
71	MP0003936_abnormal_reproductive_system	0.75219913
72	MP0002080_prenatal_lethality	0.74982324
73	MP0003119_abnormal_digestive_system	0.73352102
74	MP0000750_abnormal_muscle_regeneration	0.72983848
75	MP0006035_abnormal_mitochondrial_morpho	0.72136236
76	MP0000762_abnormal_tongue_morphology	0.71458092
77	MP0001286_abnormal_eye_development	0.71288654
78	MP0002084_abnormal_developmental_patter	0.68313615
79	MP0005451_abnormal_body_composition	0.68209086
80	MP0002751_abnormal_autonomic_nervous	0.64652356
81	MP0003755_abnormal_palate_morphology	0.61577691
82	MP0002873_normal_phenotype	0.60175045
83	MP0002169_no_abnormal_phenotype	0.60039431
84	MP0000313_abnormal_cell_death	0.59672873
85	MP0002086_abnormal_extraembryonic_tissu	0.59305853
86	MP0003828_pulmonary_edema	0.58914227
87	MP0000490_abnormal_crypts_of	0.58085546
88	MP0001919_abnormal_reproductive_system	0.57239663
89	MP0004215_abnormal_myocardial_fiber	0.56446495
90	MP0000631_abnormal_neuroendocrine_gland	0.55991080
91	MP0005197_abnormal_uvea_morphology	0.55798357
92	MP0004019_abnormal_vitamin_homeostasis	0.55704492
93	MP0000428_abnormal_craniofacial_morphol	0.55619468
94	MP0004381_abnormal_hair_follicle	0.55046919
95	MP0000678_abnormal_parathyroid_gland	0.54678473
96	MP0003879_abnormal_hair_cell	0.50836926
97	MP0003195_calcinosis	0.48905053
98	MP0003935_abnormal_craniofacial_develop	0.48820949
99	MP0002163_abnormal_gland_morphology	0.48745646
100	MP0003943_abnormal_hepatobiliary_system	0.48083113

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Male infertility (HP:0003251)	8.04619101
2	Premature ovarian failure (HP:0008209)	4.54861612
3	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	4.49445071
4	Patent foramen ovale (HP:0001655)	4.42766788
5	Hypercortisolism (HP:0001578)	4.35005463
6	Double outlet right ventricle (HP:0001719)	4.32880321
7	Congenital malformation of the right heart (HP:0011723)	4.32880321
8	Carpal bone hypoplasia (HP:0001498)	4.27053389
9	Malnutrition (HP:0004395)	4.20396805
10	Abnormal pancreas size (HP:0012094)	4.05498706
11	Birth length less than 3rd percentile (HP:0003561)	4.05428237
12	Aplasia/hypoplasia of the uterus (HP:0008684)	3.78941889
13	Preauricular pit (HP:0004467)	3.77842721
14	Periauricular skin pits (HP:0100277)	3.77842721
15	Abnormality of the septum pellucidum (HP:0007375)	3.74280122
16	Abnormality of the fetal cardiovascular system (HP:0010948)	3.68184101
17	Abnormal umbilical cord blood vessels (HP:0011403)	3.68184101
18	Single umbilical artery (HP:0001195)	3.68184101
19	Short tibia (HP:0005736)	3.63402838
20	Ureteral duplication (HP:0000073)	3.29641290
21	Abnormality of the aortic arch (HP:0012303)	3.25835225
22	Aplasia/Hypoplasia of the tibia (HP:0005772)	3.23136232
23	Aplasia/Hypoplasia involving the musculature (HP:0001460)	3.17454760
24	Impulsivity (HP:0100710)	3.14320373
25	Abdominal situs inversus (HP:0003363)	3.09057069
26	Abnormality of abdominal situs (HP:0011620)	3.09057069
27	Midline defect of the nose (HP:0004122)	3.01401846
28	Absent septum pellucidum (HP:0001331)	3.00696624
29	Infertility (HP:0000789)	2.99766644
30	Hypophosphatemic rickets (HP:0004912)	2.99594624
31	Hypoglycemic seizures (HP:0002173)	2.95953603
32	Hypoplasia of the uterus (HP:0000013)	2.91276469
33	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.90419664
34	Hypergonadotropic hypogonadism (HP:0000815)	2.83466668
35	Facial cleft (HP:0002006)	2.82803947
36	Reticulocytopenia (HP:0001896)	2.81973646
37	Microvesicular hepatic steatosis (HP:0001414)	2.73756244
38	Progressive muscle weakness (HP:0003323)	2.72025591
39	Aplasia/hypoplasia of the humerus (HP:0006507)	2.67889635
40	Sensory axonal neuropathy (HP:0003390)	2.66171365
41	Microretrognathia (HP:0000308)	2.64881316
42	Stenosis of the external auditory canal (HP:0000402)	2.61688202
43	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.61639995
44	Osteomalacia (HP:0002749)	2.61625803
45	Fused cervical vertebrae (HP:0002949)	2.60879351
46	Septo-optic dysplasia (HP:0100842)	2.59718698
47	Ileus (HP:0002595)	2.56740171
48	Cleft eyelid (HP:0000625)	2.55294131
49	Rhinitis (HP:0012384)	2.55193361
50	Skin pits (HP:0100276)	2.54256666
51	Chromsome breakage (HP:0040012)	2.50839701
52	Meckel diverticulum (HP:0002245)	2.47909033
53	Constricted visual fields (HP:0001133)	2.47008455
54	Abnormality of the preputium (HP:0100587)	2.44639753
55	Absent radius (HP:0003974)	2.43741647
56	Dysphonia (HP:0001618)	2.42786977
57	Glossoptosis (HP:0000162)	2.41515141
58	Abnormality of the ileum (HP:0001549)	2.38673377
59	Muscle stiffness (HP:0003552)	2.37399033
60	Horseshoe kidney (HP:0000085)	2.37391161
61	Adrenal overactivity (HP:0002717)	2.35186515
62	Abnormal number of incisors (HP:0011064)	2.34899397
63	Abnormality of cells of the erythroid lineage (HP:0012130)	2.34861032
64	Hyperglycemia (HP:0003074)	2.32952829
65	Myopathic facies (HP:0002058)	2.30507880
66	Aplasia involving forearm bones (HP:0009822)	2.29971539
67	Absent forearm bone (HP:0003953)	2.29971539
68	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.28824771
69	Multiple enchondromatosis (HP:0005701)	2.24226973
70	Anhidrosis (HP:0000970)	2.22047945
71	Absent thumb (HP:0009777)	2.19517324
72	Myokymia (HP:0002411)	2.14421802
73	Tetraparesis (HP:0002273)	2.12728922
74	Dysautonomia (HP:0002459)	2.12023999
75	Abnormal number of erythroid precursors (HP:0012131)	2.11968251
76	Testicular atrophy (HP:0000029)	2.11454388
77	Sparse lateral eyebrow (HP:0005338)	2.11357716
78	Symptomatic seizures (HP:0011145)	2.10910613
79	Supernumerary spleens (HP:0009799)	2.08031899
80	Median cleft lip (HP:0000161)	2.06846528
81	Abnormality of the umbilical cord (HP:0010881)	2.06768724
82	Progressive hearing impairment (HP:0001730)	2.04795951
83	Hypoplasia of the radius (HP:0002984)	2.04753013
84	Concave nail (HP:0001598)	1.99419565
85	Atresia of the external auditory canal (HP:0000413)	1.97999230
86	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.95569261
87	Progressive sensorineural hearing impairment (HP:0000408)	1.92707269
88	Mitral stenosis (HP:0001718)	1.88997693
89	Breast hypoplasia (HP:0003187)	1.88079704
90	Abnormal biliary tract morphology (HP:0012440)	1.85027073
91	Short thumb (HP:0009778)	1.83680340
92	Cortical visual impairment (HP:0100704)	1.83211080
93	Reduced antithrombin III activity (HP:0001976)	1.81486844
94	Selective tooth agenesis (HP:0001592)	1.81039746
95	Steatorrhea (HP:0002570)	1.80329019
96	Truncus arteriosus (HP:0001660)	1.77729600
97	Ragged-red muscle fibers (HP:0003200)	1.77590282
98	Spinal cord lesions (HP:0100561)	1.76542478
99	Syringomyelia (HP:0003396)	1.76542478
100	Posterior subcapsular cataract (HP:0007787)	1.76411504

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BUB1	5.10907320
2	LATS2	5.00870945
3	TESK2	4.69649120
4	SRPK1	4.51939169
5	STK16	2.93744350
6	TRIM28	2.86571379
7	NEK6	2.58442271
8	BRSK1	2.51540183
9	DYRK3	2.46797789
10	PLK1	2.44649055
11	CDK19	2.29970056
12	PBK	2.20674155
13	CDK9	2.17486281
14	AURKA	2.10182946
15	TAOK3	2.03942555
16	BRSK2	2.02197890
17	AURKB	1.95969591
18	PLK3	1.84643080
19	CDK12	1.82136794
20	CDC7	1.81219960
21	MARK3	1.75533848
22	PIM2	1.64806721
23	PDK2	1.54855660
24	CHEK1	1.41100837
25	RAF1	1.32671687
26	CDK7	1.31527221
27	NEK2	1.31299414
28	GSK3A	1.27273754
29	PLK4	1.27223195
30	TTK	1.24227657
31	PRKCI	1.19313388
32	PIM1	1.18869282
33	MELK	1.16750257
34	WNK3	1.12432693
35	CHEK2	1.11632302
36	PKN1	1.06429211
37	PAK2	1.03604620
38	CSNK1E	1.03462640
39	BMX	1.03388662
40	LRRK2	0.94361383
41	STK4	0.93731723
42	PAK1	0.93268789
43	MAP3K9	0.92291593
44	MAP3K5	0.88867455
45	CSNK2A1	0.88655498
46	CDK2	0.85234560
47	CSNK2A2	0.84109353
48	PAK6	0.82070645
49	CDK1	0.76947895
50	STK3	0.75469869
51	ZAK	0.74687408
52	ATR	0.72991143
53	MTOR	0.71226407
54	WNK1	0.70194600
55	TNIK	0.68074222
56	TESK1	0.65825242
57	MAPK11	0.64631743
58	STK10	0.64028854
59	NTRK3	0.63865169
60	TLK1	0.59573677
61	PRKG1	0.56090588
62	ATM	0.56068217
63	KDR	0.52919339
64	BRD4	0.52410375
65	VRK1	0.50311551
66	RPS6KA1	0.50137227
67	PRKACB	0.49359784
68	AKT2	0.47207547
69	PRKD1	0.46167192
70	PRKD2	0.45886022
71	MAP3K8	0.44982420
72	MAPK1	0.44491074
73	GSK3B	0.44014819
74	EIF2AK3	0.43954276
75	NUAK1	0.42046928
76	EPHA4	0.41907259
77	NME1	0.41611242
78	WEE1	0.39129022
79	STK24	0.38776749
80	MAPK14	0.35610952
81	TAOK2	0.34182780
82	ABL2	0.28931383
83	TBK1	0.28425438
84	CSNK1A1	0.28032350
85	PRKAA1	0.26057089
86	MAP3K4	0.25631764
87	PRKACA	0.24854140
88	CSNK1D	0.23985263
89	CDK11A	0.23362881
90	PINK1	0.22519264
91	CDK3	0.21122175
92	MAPK10	0.20826135
93	DMPK	0.20601969
94	MAPKAPK2	0.20021094
95	ERBB4	0.19272218
96	CAMK4	0.17345192
97	CDK5	0.16565403
98	LMTK2	0.16057525
99	AKT1	0.15711516
100	PRKCA	0.13566158

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Basal transcription factors_Homo sapiens_hsa03022	5.14980747
2	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	4.90727808
3	Regulation of autophagy_Homo sapiens_hsa04140	4.65785673
4	Ribosome_Homo sapiens_hsa03010	4.10697864
5	RNA polymerase_Homo sapiens_hsa03020	3.87351882
6	mRNA surveillance pathway_Homo sapiens_hsa03015	3.58396193
7	RNA transport_Homo sapiens_hsa03013	3.17575887
8	Cell cycle_Homo sapiens_hsa04110	2.95318550
9	Folate biosynthesis_Homo sapiens_hsa00790	2.67152538
10	Spliceosome_Homo sapiens_hsa03040	2.66183418
11	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.60252788
12	p53 signaling pathway_Homo sapiens_hsa04115	2.58687320
13	Oocyte meiosis_Homo sapiens_hsa04114	2.37296052
14	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.98362701
15	Mismatch repair_Homo sapiens_hsa03430	1.84507085
16	Taste transduction_Homo sapiens_hsa04742	1.63400706
17	Fanconi anemia pathway_Homo sapiens_hsa03460	1.57672920
18	Pyrimidine metabolism_Homo sapiens_hsa00240	1.56661875
19	Homologous recombination_Homo sapiens_hsa03440	1.53344038
20	RNA degradation_Homo sapiens_hsa03018	1.50260522
21	DNA replication_Homo sapiens_hsa03030	1.42150593
22	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.36079275
23	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.35503827
24	Base excision repair_Homo sapiens_hsa03410	1.34032585
25	Steroid biosynthesis_Homo sapiens_hsa00100	1.22864953
26	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	1.22845501
27	Huntingtons disease_Homo sapiens_hsa05016	1.14023425
28	Sulfur metabolism_Homo sapiens_hsa00920	1.05967459
29	Fatty acid elongation_Homo sapiens_hsa00062	1.05412490
30	MicroRNAs in cancer_Homo sapiens_hsa05206	1.02147592
31	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.01644793
32	Purine metabolism_Homo sapiens_hsa00230	1.01407911
33	Viral carcinogenesis_Homo sapiens_hsa05203	0.98035699
34	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.96948134
35	Cardiac muscle contraction_Homo sapiens_hsa04260	0.95051961
36	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.89668502
37	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.88939063
38	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.87094126
39	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.86350591
40	Caffeine metabolism_Homo sapiens_hsa00232	0.86166469
41	Herpes simplex infection_Homo sapiens_hsa05168	0.82106983
42	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.80597210
43	Wnt signaling pathway_Homo sapiens_hsa04310	0.77547127
44	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.77135771
45	Nucleotide excision repair_Homo sapiens_hsa03420	0.72593385
46	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.72274869
47	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.70986051
48	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.70887557
49	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.64733652
50	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.62927392
51	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.62136017
52	Parkinsons disease_Homo sapiens_hsa05012	0.57521622
53	Hepatitis B_Homo sapiens_hsa05161	0.56716134
54	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.53977466
55	Insulin secretion_Homo sapiens_hsa04911	0.51751665
56	Small cell lung cancer_Homo sapiens_hsa05222	0.51472534
57	Arginine and proline metabolism_Homo sapiens_hsa00330	0.48876128
58	Olfactory transduction_Homo sapiens_hsa04740	0.48370763
59	AMPK signaling pathway_Homo sapiens_hsa04152	0.41466403
60	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.40544308
61	FoxO signaling pathway_Homo sapiens_hsa04068	0.37619512
62	Glutathione metabolism_Homo sapiens_hsa00480	0.37584439
63	Bile secretion_Homo sapiens_hsa04976	0.36518833
64	Hippo signaling pathway_Homo sapiens_hsa04390	0.35516873
65	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.34953371
66	Acute myeloid leukemia_Homo sapiens_hsa05221	0.33827878
67	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.31838800
68	Nicotine addiction_Homo sapiens_hsa05033	0.30562089
69	Protein export_Homo sapiens_hsa03060	0.30407794
70	Proteasome_Homo sapiens_hsa03050	0.29911773
71	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.29851992
72	Protein digestion and absorption_Homo sapiens_hsa04974	0.28787623
73	Alcoholism_Homo sapiens_hsa05034	0.27606502
74	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.27172804
75	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.24451347
76	Renal cell carcinoma_Homo sapiens_hsa05211	0.24387660
77	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.23129707
78	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.23070751
79	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.22511252
80	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.21697501
81	Circadian rhythm_Homo sapiens_hsa04710	0.20754698
82	Prostate cancer_Homo sapiens_hsa05215	0.20128706
83	Mineral absorption_Homo sapiens_hsa04978	0.17150213
84	Adherens junction_Homo sapiens_hsa04520	0.15157785
85	ABC transporters_Homo sapiens_hsa02010	0.12178344
86	Metabolic pathways_Homo sapiens_hsa01100	0.11459644
87	Apoptosis_Homo sapiens_hsa04210	0.11048186
88	GABAergic synapse_Homo sapiens_hsa04727	0.10442065
89	Pathways in cancer_Homo sapiens_hsa05200	0.10045725
90	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.08855870
91	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.07677645
92	Tight junction_Homo sapiens_hsa04530	0.06773484
93	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.06506082
94	Legionellosis_Homo sapiens_hsa05134	0.04454465
95	mTOR signaling pathway_Homo sapiens_hsa04150	0.04387841
96	Serotonergic synapse_Homo sapiens_hsa04726	0.04179896
97	Influenza A_Homo sapiens_hsa05164	0.04077672
98	HTLV-I infection_Homo sapiens_hsa05166	0.04045409
99	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.02889106
100	Sphingolipid metabolism_Homo sapiens_hsa00600	0.01666585

KHDC1P1

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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