ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	male meiosis I (GO:0007141)	6.50648283
2	transcription from mitochondrial promoter (GO:0006390)	6.46774398
3	meiosis I (GO:0007127)	5.67142352
4	positive regulation of protein homooligomerization (GO:0032464)	5.53015148
5	chaperone-mediated protein transport (GO:0072321)	5.25641772
6	rRNA modification (GO:0000154)	5.21152102
7	regulation of DNA methylation (GO:0044030)	4.85204339
8	ribosome assembly (GO:0042255)	4.57611069
9	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	4.48952211
10	autophagic vacuole assembly (GO:0000045)	4.47792890
11	rRNA methylation (GO:0031167)	4.47157539
12	regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	4.42126351
13	mitotic metaphase plate congression (GO:0007080)	4.33463694
14	* negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	31.1738539
15	ventricular cardiac muscle cell development (GO:0055015)	3.91216828
16	regulation of oxidative phosphorylation (GO:0002082)	3.86854238
17	regulation of G0 to G1 transition (GO:0070316)	3.84655866
18	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.78521334
19	termination of RNA polymerase III transcription (GO:0006386)	3.78521334
20	very-low-density lipoprotein particle assembly (GO:0034379)	3.77013594
21	mitochondrial RNA metabolic process (GO:0000959)	3.70522071
22	ribosomal small subunit biogenesis (GO:0042274)	3.50579555
23	regulation of spindle organization (GO:0090224)	3.48623487
24	ribosome biogenesis (GO:0042254)	3.38892689
25	metaphase plate congression (GO:0051310)	3.35376868
26	mitotic chromosome condensation (GO:0007076)	3.34024438
27	regulation of acrosome reaction (GO:0060046)	3.29995710
28	maturation of SSU-rRNA (GO:0030490)	3.28724517
29	rRNA processing (GO:0006364)	3.27878264
30	positive regulation of chromosome segregation (GO:0051984)	3.27732288
31	male meiosis (GO:0007140)	3.26894253
32	ribonucleoprotein complex biogenesis (GO:0022613)	3.23837923
33	regulation of mitochondrial translation (GO:0070129)	3.15985365
34	rRNA metabolic process (GO:0016072)	3.15020775
35	polyamine biosynthetic process (GO:0006596)	3.12144696
36	regulation of cellular respiration (GO:0043457)	3.11725173
37	multicellular organism reproduction (GO:0032504)	3.08960889
38	attachment of spindle microtubules to kinetochore (GO:0008608)	3.08881727
39	skeletal muscle tissue regeneration (GO:0043403)	3.05173823
40	regulation of mitotic spindle organization (GO:0060236)	3.04558120
41	response to UV-C (GO:0010225)	3.00113168
42	* regulation of retinoic acid receptor signaling pathway (GO:0048385)	26.1580785
43	positive regulation of uterine smooth muscle contraction (GO:0070474)	2.96206338
44	N-terminal protein amino acid acetylation (GO:0006474)	2.96067885
45	pseudouridine synthesis (GO:0001522)	2.93879138
46	pyrimidine-containing compound transmembrane transport (GO:0072531)	2.88512318
47	maturation of 5.8S rRNA (GO:0000460)	2.88431570
48	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO	2.88333338
49	regulation of transforming growth factor beta2 production (GO:0032909)	2.88330076
50	protein K6-linked ubiquitination (GO:0085020)	2.81843821
51	ribosomal large subunit biogenesis (GO:0042273)	2.80878499
52	regulation of transforming growth factor beta1 production (GO:0032908)	2.77095719
53	intestinal epithelial cell development (GO:0060576)	2.73657404
54	aggressive behavior (GO:0002118)	2.73349457
55	proteasome assembly (GO:0043248)	2.73321236
56	regulation of protein homooligomerization (GO:0032462)	2.72818609
57	protein targeting to mitochondrion (GO:0006626)	2.72156344
58	chaperone mediated protein folding requiring cofactor (GO:0051085)	2.72022002
59	drinking behavior (GO:0042756)	2.71350102
60	transcription from RNA polymerase III promoter (GO:0006383)	2.68607973
61	meiotic nuclear division (GO:0007126)	2.68120967
62	hyperosmotic salinity response (GO:0042538)	2.67022678
63	regulation of cardioblast differentiation (GO:0051890)	2.66618767
64	translational termination (GO:0006415)	2.62798201
65	viral transcription (GO:0019083)	2.59591746
66	mitotic sister chromatid segregation (GO:0000070)	2.59079243
67	translational initiation (GO:0006413)	2.57892260
68	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	2.56523328
69	protein localization to chromosome, centromeric region (GO:0071459)	2.55542692
70	meiotic cell cycle process (GO:1903046)	2.54359070
71	regulation of female receptivity (GO:0045924)	2.54048961
72	ribosomal small subunit assembly (GO:0000028)	2.53255243
73	cellular component biogenesis (GO:0044085)	2.49590334
74	tRNA methylation (GO:0030488)	2.49148663
75	meiotic cell cycle (GO:0051321)	2.48906544
76	CENP-A containing nucleosome assembly (GO:0034080)	2.47806951
77	positive regulation of protein oligomerization (GO:0032461)	2.47560577
78	positive regulation of cAMP-mediated signaling (GO:0043950)	2.45608561
79	outflow tract septum morphogenesis (GO:0003148)	2.38705745
80	snRNA transcription (GO:0009301)	2.38294952
81	negative regulation of RNA splicing (GO:0033119)	2.38259207
82	piRNA metabolic process (GO:0034587)	2.37217255
83	translation (GO:0006412)	2.37197659
84	positive regulation of cytokinesis (GO:0032467)	2.36934869
85	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.36859461
86	protein localization to mitochondrion (GO:0070585)	2.36085744
87	kinetochore assembly (GO:0051382)	2.35564796
88	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.35533829
89	formation of translation preinitiation complex (GO:0001731)	2.35507640
90	regulation of chromosome segregation (GO:0051983)	2.34630640
91	DNA replication checkpoint (GO:0000076)	2.34451695
92	regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2	2.33216272
93	female mating behavior (GO:0060180)	2.32960506
94	telomere maintenance via telomere lengthening (GO:0010833)	2.32769088
95	DNA replication initiation (GO:0006270)	2.31529240
96	establishment of protein localization to mitochondrion (GO:0072655)	2.31046949
97	regulation of cytokine production involved in inflammatory response (GO:1900015)	2.30479863
98	translational elongation (GO:0006414)	2.30001979
99	transcription elongation from RNA polymerase II promoter (GO:0006368)	2.28689683
100	chromatin remodeling at centromere (GO:0031055)	2.28000684

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.27940165
2	NOTCH1_21737748_ChIP-Seq_TLL_Human	4.04452891
3	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.93773683
4	E2F7_22180533_ChIP-Seq_HELA_Human	3.69805864
5	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.56111498
6	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.55481041
7	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	3.49708143
8	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	3.49708143
9	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	3.49708143
10	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.48045250
11	ETS1_20019798_ChIP-Seq_JURKAT_Human	3.39083472
12	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	3.37600585
13	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.18513578
14	MYC_18555785_ChIP-Seq_MESCs_Mouse	3.16119207
15	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.14458904
16	CREB1_15753290_ChIP-ChIP_HEK293T_Human	3.01956168
17	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.90742709
18	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.90101052
19	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.89651110
20	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.65492995
21	MYC_19079543_ChIP-ChIP_MESCs_Mouse	2.43611234
22	ZNF274_21170338_ChIP-Seq_K562_Hela	2.41827586
23	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.39513289
24	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.32357976
25	ZNF263_19887448_ChIP-Seq_K562_Human	2.25554687
26	AR_21909140_ChIP-Seq_LNCAP_Human	2.18160508
27	THAP11_20581084_ChIP-Seq_MESCs_Mouse	2.12147999
28	MYC_19030024_ChIP-ChIP_MESCs_Mouse	2.10533844
29	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.01954137
30	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.97356772
31	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.97349796
32	TTF2_22483619_ChIP-Seq_HELA_Human	1.96512195
33	GABP_19822575_ChIP-Seq_HepG2_Human	1.95873896
34	VDR_23849224_ChIP-Seq_CD4+_Human	1.95308383
35	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.89043890
36	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.84616810
37	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.80898653
38	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.75758418
39	ETV1_20927104_ChIP-Seq_GIST48_Human	1.73886700
40	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.70479749
41	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.68607891
42	RBPJ_21746931_ChIP-Seq_IB4_Human	1.66950992
43	XRN2_22483619_ChIP-Seq_HELA_Human	1.66912255
44	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.64569956
45	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.64214373
46	EZH2_22144423_ChIP-Seq_EOC_Human	1.63511978
47	FOXP3_21729870_ChIP-Seq_TREG_Human	1.54882948
48	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.51258483
49	PHF8_20622853_ChIP-Seq_HELA_Human	1.47718693
50	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.44100370
51	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.41077633
52	NFYB_21822215_ChIP-Seq_K562_Human	1.38988916
53	DCP1A_22483619_ChIP-Seq_HELA_Human	1.37675264
54	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.37270066
55	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.35268894
56	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.32424222
57	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.29102281
58	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.28236348
59	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	1.28015706
60	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.27761423
61	TBL1_22424771_ChIP-Seq_293T_Human	1.25430700
62	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.25180565
63	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.19672491
64	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.19400786
65	KDM5A_27292631_Chip-Seq_BREAST_Human	1.16989238
66	LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.15264550
67	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.14446775
68	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.12204712
69	MYC_18940864_ChIP-ChIP_HL60_Human	1.12168739
70	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.10557331
71	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.09155826
72	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.07448338
73	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.06073327
74	CIITA_25753668_ChIP-Seq_RAJI_Human	1.05709809
75	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	1.04794085
76	KLF4_18555785_ChIP-Seq_MESCs_Mouse	1.03023539
77	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.00380904
78	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.98710888
79	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.96294030
80	IRF1_19129219_ChIP-ChIP_H3396_Human	0.95679974
81	NFYA_21822215_ChIP-Seq_K562_Human	0.95020372
82	TP53_22573176_ChIP-Seq_HFKS_Human	0.94631866
83	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	0.93523818
84	SFPI1_20887958_ChIP-Seq_HPC-7_Mouse	0.92978055
85	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.92740719
86	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	0.92507571
87	SOX2_18555785_ChIP-Seq_MESCs_Mouse	0.92377042
88	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	0.91743107
89	E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human	0.90998736
90	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	0.89233232
91	KAP1_22055183_ChIP-Seq_ESCs_Mouse	0.89120147
92	ELK1_19687146_ChIP-ChIP_HELA_Human	0.87951105
93	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	0.87085117
94	SALL1_21062744_ChIP-ChIP_HESCs_Human	0.85743961
95	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	0.85073847
96	CTCF_20526341_ChIP-Seq_ESCs_Human	0.83095583
97	ZFX_18555785_ChIP-Seq_MESCs_Mouse	0.82936449
98	E2F1_21310950_ChIP-Seq_MCF-7_Human	0.82546911
99	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	0.81786909
100	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	0.78582961

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001986_abnormal_taste_sensitivity	6.98561232
2	MP0005423_abnormal_somatic_nervous	6.20215235
3	MP0003718_maternal_effect	4.36710734
4	MP0003693_abnormal_embryo_hatching	3.98404707
5	MP0008260_abnormal_autophagy	3.92944896
6	MP0006292_abnormal_olfactory_placode	3.79804654
7	MP0009379_abnormal_foot_pigmentation	3.79367213
8	MP0004957_abnormal_blastocyst_morpholog	3.45663439
9	MP0003646_muscle_fatigue	3.28884449
10	MP0003111_abnormal_nucleus_morphology	2.95592633
11	MP0003077_abnormal_cell_cycle	2.51596341
12	MP0002127_abnormal_cardiovascular_syste	2.41997407
13	MP0009333_abnormal_splenocyte_physiolog	2.31789328
14	MP0008058_abnormal_DNA_repair	2.01685634
15	MP0002160_abnormal_reproductive_system	1.95665390
16	MP0010094_abnormal_chromosome_stability	1.94800513
17	MP0001929_abnormal_gametogenesis	1.91917225
18	MP0010307_abnormal_tumor_latency	1.87113821
19	MP0002277_abnormal_respiratory_mucosa	1.86988695
20	MP0002210_abnormal_sex_determination	1.85242898
21	MP0005499_abnormal_olfactory_system	1.75128437
22	MP0005394_taste/olfaction_phenotype	1.75128437
23	MP0006036_abnormal_mitochondrial_physio	1.72754788
24	MP0001672_abnormal_embryogenesis/_devel	1.60625761
25	MP0005380_embryogenesis_phenotype	1.60625761
26	MP0005395_other_phenotype	1.53657503
27	MP0000350_abnormal_cell_proliferation	1.49586579
28	MP0008932_abnormal_embryonic_tissue	1.49459457
29	MP0005389_reproductive_system_phenotype	1.49148337
30	MP0001730_embryonic_growth_arrest	1.48667708
31	MP0001697_abnormal_embryo_size	1.47020804
32	MP0005451_abnormal_body_composition	1.46868045
33	MP0010030_abnormal_orbit_morphology	1.46208556
34	MP0008877_abnormal_DNA_methylation	1.42916418
35	MP0006035_abnormal_mitochondrial_morpho	1.40622175
36	MP0000358_abnormal_cell_content/	1.36719873
37	MP0003984_embryonic_growth_retardation	1.36460233
38	MP0008789_abnormal_olfactory_epithelium	1.34550140
39	MP0008057_abnormal_DNA_replication	1.32420050
40	MP0002088_abnormal_embryonic_growth/wei	1.31419866
41	MP0005410_abnormal_fertilization	1.30959812
42	MP0009840_abnormal_foam_cell	1.28651148
43	MP0003938_abnormal_ear_development	1.28540768
44	MP0001881_abnormal_mammary_gland	1.18060525
45	MP0002796_impaired_skin_barrier	1.17515090
46	MP0000653_abnormal_sex_gland	1.14484595
47	MP0003699_abnormal_female_reproductive	1.12837080
48	MP0002161_abnormal_fertility/fecundity	1.12748756
49	MP0001145_abnormal_male_reproductive	1.10959964
50	MP0000490_abnormal_crypts_of	1.09649250
51	MP0003698_abnormal_male_reproductive	1.08956523
52	MP0003890_abnormal_embryonic-extraembry	1.05849147
53	MP0003186_abnormal_redox_activity	1.04451796
54	MP0002085_abnormal_embryonic_tissue	1.00914492
55	MP0002080_prenatal_lethality	0.98374103
56	MP0003136_yellow_coat_color	0.97905885
57	MP0000049_abnormal_middle_ear	0.94833589
58	MP0001293_anophthalmia	0.92394380
59	MP0002084_abnormal_developmental_patter	0.92122890
60	MP0003936_abnormal_reproductive_system	0.90170724
61	MP0002086_abnormal_extraembryonic_tissu	0.89345555
62	MP0008995_early_reproductive_senescence	0.87838315
63	MP0001764_abnormal_homeostasis	0.84743239
64	MP0003943_abnormal_hepatobiliary_system	0.83616956
65	MP0000313_abnormal_cell_death	0.83264720
66	MP0000462_abnormal_digestive_system	0.82776226
67	MP0001666_abnormal_nutrient_absorption	0.82640945
68	MP0005501_abnormal_skin_physiology	0.82638912
69	MP0002138_abnormal_hepatobiliary_system	0.82520686
70	MP0005647_abnormal_sex_gland	0.81506147
71	MP0005646_abnormal_pituitary_gland	0.81269181
72	MP0003567_abnormal_fetal_cardiomyocyte	0.81121547
73	MP0005085_abnormal_gallbladder_physiolo	0.80777520
74	MP0004019_abnormal_vitamin_homeostasis	0.80753789
75	MP0004215_abnormal_myocardial_fiber	0.78729228
76	MP0001529_abnormal_vocalization	0.75835290
77	MP0000015_abnormal_ear_pigmentation	0.74765940
78	MP0000678_abnormal_parathyroid_gland	0.73191303
79	MP0001119_abnormal_female_reproductive	0.70840866
80	MP0001919_abnormal_reproductive_system	0.70452447
81	MP0000627_abnormal_mammary_gland	0.70228577
82	MP0000750_abnormal_muscle_regeneration	0.70121342
83	MP0003119_abnormal_digestive_system	0.69489369
84	MP0005377_hearing/vestibular/ear_phenot	0.67294761
85	MP0003878_abnormal_ear_physiology	0.67294761
86	MP0003806_abnormal_nucleotide_metabolis	0.64730533
87	MP0006276_abnormal_autonomic_nervous	0.61421695
88	MP0001286_abnormal_eye_development	0.57826366
89	MP0002873_normal_phenotype	0.57323103
90	MP0002169_no_abnormal_phenotype	0.57259890
91	MP0001346_abnormal_lacrimal_gland	0.56896342
92	MP0000647_abnormal_sebaceous_gland	0.52892361
93	MP0002735_abnormal_chemical_nociception	0.51103644
94	MP0005058_abnormal_lysosome_morphology	0.50780814
95	MP0003121_genomic_imprinting	0.49454110
96	MP0000372_irregular_coat_pigmentation	0.46787308
97	MP0005360_urolithiasis	0.46741401
98	MP0003950_abnormal_plasma_membrane	0.46030679
99	MP0000631_abnormal_neuroendocrine_gland	0.44269202
100	MP0000477_abnormal_intestine_morphology	0.43551259

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Male infertility (HP:0003251)	6.68722128
2	Congenital malformation of the right heart (HP:0011723)	4.96904017
3	Double outlet right ventricle (HP:0001719)	4.96904017
4	Patent foramen ovale (HP:0001655)	4.93328536
5	Abnormal pancreas size (HP:0012094)	4.62529000
6	Carpal bone hypoplasia (HP:0001498)	4.31010537
7	Microvesicular hepatic steatosis (HP:0001414)	4.27151580
8	Abnormal umbilical cord blood vessels (HP:0011403)	4.23238208
9	Single umbilical artery (HP:0001195)	4.23238208
10	Abnormality of the fetal cardiovascular system (HP:0010948)	4.23238208
11	Birth length less than 3rd percentile (HP:0003561)	4.12511337
12	Ureteral duplication (HP:0000073)	4.04164789
13	Abnormality of the aortic arch (HP:0012303)	4.01419253
14	Aplasia/hypoplasia of the uterus (HP:0008684)	3.80753617
15	Premature ovarian failure (HP:0008209)	3.32149289
16	Aplasia/Hypoplasia involving the musculature (HP:0001460)	3.22581074
17	Hypoglycemic seizures (HP:0002173)	3.16860407
18	Hypoplasia of the uterus (HP:0000013)	3.13592006
19	Preauricular pit (HP:0004467)	3.13157479
20	Periauricular skin pits (HP:0100277)	3.13157479
21	Malnutrition (HP:0004395)	3.07897923
22	Ileus (HP:0002595)	3.01478548
23	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.98815143
24	Hypercortisolism (HP:0001578)	2.98655076
25	Fused cervical vertebrae (HP:0002949)	2.96175190
26	Progressive muscle weakness (HP:0003323)	2.95661534
27	Abnormality of the septum pellucidum (HP:0007375)	2.92146288
28	Hypergonadotropic hypogonadism (HP:0000815)	2.90735525
29	Dysphonia (HP:0001618)	2.87476763
30	Hyperglycemia (HP:0003074)	2.87175713
31	Stenosis of the external auditory canal (HP:0000402)	2.72524753
32	Multiple enchondromatosis (HP:0005701)	2.71767214
33	Abnormality of magnesium homeostasis (HP:0004921)	2.67681598
34	Myopathic facies (HP:0002058)	2.65486389
35	Microretrognathia (HP:0000308)	2.59849224
36	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.58441965
37	Reticulocytopenia (HP:0001896)	2.56356069
38	Abnormality of the umbilical cord (HP:0010881)	2.55818139
39	Horseshoe kidney (HP:0000085)	2.55086729
40	Hypophosphatemic rickets (HP:0004912)	2.51267060
41	Short tibia (HP:0005736)	2.50659261
42	Osteomalacia (HP:0002749)	2.49200025
43	Abnormality of cells of the erythroid lineage (HP:0012130)	2.48363187
44	Reduced antithrombin III activity (HP:0001976)	2.47591898
45	Cerebral hypomyelination (HP:0006808)	2.47052162
46	Symptomatic seizures (HP:0011145)	2.45848304
47	Infertility (HP:0000789)	2.45369566
48	Limb dystonia (HP:0002451)	2.43805966
49	Absent radius (HP:0003974)	2.42740646
50	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.41199371
51	Abnormality of alanine metabolism (HP:0010916)	2.41199371
52	Hyperalaninemia (HP:0003348)	2.41199371
53	Tetany (HP:0001281)	2.40821077
54	Abnormality of urine glucose concentration (HP:0011016)	2.37674391
55	Glycosuria (HP:0003076)	2.37674391
56	Absent forearm bone (HP:0003953)	2.32971014
57	Aplasia involving forearm bones (HP:0009822)	2.32971014
58	Breast hypoplasia (HP:0003187)	2.31984089
59	Cleft eyelid (HP:0000625)	2.31416793
60	Abnormal number of erythroid precursors (HP:0012131)	2.25112251
61	Constricted visual fields (HP:0001133)	2.22136950
62	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	2.21891570
63	Short 1st metacarpal (HP:0010034)	2.21891570
64	Sensory axonal neuropathy (HP:0003390)	2.20975575
65	Increased serum pyruvate (HP:0003542)	2.18644156
66	Absent thumb (HP:0009777)	2.16957911
67	Anhidrosis (HP:0000970)	2.16539148
68	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.16276582
69	Truncus arteriosus (HP:0001660)	2.14914830
70	Ragged-red muscle fibers (HP:0003200)	2.14115601
71	Absent septum pellucidum (HP:0001331)	2.13892781
72	Skin pits (HP:0100276)	2.12317638
73	Posterior subcapsular cataract (HP:0007787)	2.11166716
74	Facial cleft (HP:0002006)	2.11080094
75	Abnormality of monocarboxylic acid metabolism (HP:0010996)	2.10615240
76	Increased serum lactate (HP:0002151)	2.09662748
77	Poor speech (HP:0002465)	2.09232786
78	Concave nail (HP:0001598)	2.06638542
79	Hypomagnesemia (HP:0002917)	2.06595905
80	Aplasia/hypoplasia of the humerus (HP:0006507)	2.06377879
81	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.05792195
82	Abnormal biliary tract morphology (HP:0012440)	1.99729086
83	Abnormality of the 1st metacarpal (HP:0010009)	1.97307299
84	Dysautonomia (HP:0002459)	1.96862808
85	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.96625717
86	Pendular nystagmus (HP:0012043)	1.95139353
87	Hyperinsulinemic hypoglycemia (HP:0000825)	1.94695460
88	Hypoplasia of the radius (HP:0002984)	1.90927847
89	Abnormality of the preputium (HP:0100587)	1.90521468
90	Rough bone trabeculation (HP:0100670)	1.88474212
91	Supernumerary spleens (HP:0009799)	1.87141361
92	Rhinitis (HP:0012384)	1.86808670
93	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	1.86240731
94	Attenuation of retinal blood vessels (HP:0007843)	1.84925275
95	Abnormal spermatogenesis (HP:0008669)	1.83899661
96	Meckel diverticulum (HP:0002245)	1.83468029
97	CNS hypomyelination (HP:0003429)	1.81962226
98	Abnormality of pyrimidine metabolism (HP:0004353)	1.81577474
99	Midline defect of the nose (HP:0004122)	1.81427868
100	Pili torti (HP:0003777)	1.80053729

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BUB1	5.54685701
2	PBK	4.89788044
3	SRPK1	4.30397329
4	TESK2	4.21565200
5	PDK2	3.35245492
6	LATS2	3.10287406
7	STK16	2.83246813
8	CDK19	2.53470714
9	PLK1	2.29054861
10	TRIM28	2.12443032
11	AURKA	2.09749261
12	BRSK1	2.06898499
13	NEK6	1.89390616
14	PLK3	1.75004606
15	NEK2	1.72564250
16	TAOK3	1.65670102
17	BRSK2	1.65602033
18	AURKB	1.65408532
19	WNK4	1.50498936
20	PLK4	1.47030352
21	STK39	1.42417347
22	MARK3	1.39181913
23	CHEK2	1.37252849
24	TTK	1.28163946
25	BMX	1.26380887
26	CHEK1	1.25812263
27	EIF2AK3	1.25141259
28	PIM1	1.24205427
29	DYRK3	1.24126464
30	STK4	1.22925396
31	MAP3K5	1.16741045
32	MELK	1.15447730
33	PAK6	1.11393702
34	STK10	1.08263494
35	PAK1	1.06897996
36	CDK7	1.04408687
37	OXSR1	1.04118900
38	NME2	1.02244577
39	PKN1	0.97538613
40	NUAK1	0.92892895
41	AKT3	0.92588193
42	CSNK2A1	0.90613124
43	KDR	0.89982574
44	PAK2	0.88443560
45	PINK1	0.87286026
46	PRKCI	0.86746592
47	CDC7	0.84147983
48	NME1	0.82230320
49	CSNK2A2	0.79097585
50	PIM2	0.77711169
51	ATR	0.75694905
52	CSNK1E	0.75522515
53	MAP3K8	0.74033243
54	ABL2	0.73677712
55	AKT2	0.73261131
56	EIF2AK1	0.72541457
57	GSK3A	0.72349798
58	ZAK	0.68555942
59	RAF1	0.68256952
60	TLK1	0.67901315
61	TESK1	0.67387212
62	NEK1	0.65391784
63	CDK2	0.65313178
64	WNK3	0.63613369
65	CDK9	0.59429089
66	STK3	0.58575619
67	MST4	0.55881259
68	CDK1	0.55402741
69	TAOK2	0.53950620
70	WEE1	0.52981512
71	LRRK2	0.51327289
72	ILK	0.49259740
73	MAP3K12	0.47636747
74	MAPK11	0.46380397
75	CSNK1A1	0.45854036
76	BCKDK	0.43800278
77	RPS6KB2	0.42590514
78	ATM	0.41733105
79	PRKG1	0.41031350
80	PRKD1	0.40825954
81	RPS6KA1	0.37009776
82	VRK1	0.35005010
83	MAP3K9	0.33884016
84	NTRK3	0.33730387
85	EIF2AK2	0.32506622
86	ACVR1B	0.31519735
87	ADRBK1	0.30979878
88	CAMK2G	0.30820586
89	PRKACB	0.29217882
90	GSK3B	0.29145708
91	SCYL2	0.28918051
92	VRK2	0.28511070
93	MTOR	0.28324047
94	MAPK1	0.26694615
95	PRKCG	0.25385507
96	MAPK14	0.23726805
97	PRPF4B	0.23211910
98	WNK1	0.22974391
99	PIK3CG	0.20856711
100	CAMK4	0.20404864

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	5.27807563
2	Ribosome_Homo sapiens_hsa03010	4.86319850
3	Basal transcription factors_Homo sapiens_hsa03022	4.22294895
4	Regulation of autophagy_Homo sapiens_hsa04140	4.13371891
5	RNA polymerase_Homo sapiens_hsa03020	4.01095138
6	RNA transport_Homo sapiens_hsa03013	3.10875390
7	Folate biosynthesis_Homo sapiens_hsa00790	2.96922676
8	mRNA surveillance pathway_Homo sapiens_hsa03015	2.92566202
9	Spliceosome_Homo sapiens_hsa03040	2.67792080
10	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.62190212
11	Cell cycle_Homo sapiens_hsa04110	2.26122323
12	DNA replication_Homo sapiens_hsa03030	2.11340428
13	Pyrimidine metabolism_Homo sapiens_hsa00240	2.04393363
14	Oocyte meiosis_Homo sapiens_hsa04114	1.93454387
15	Mismatch repair_Homo sapiens_hsa03430	1.87119907
16	RNA degradation_Homo sapiens_hsa03018	1.86197846
17	Base excision repair_Homo sapiens_hsa03410	1.82750777
18	p53 signaling pathway_Homo sapiens_hsa04115	1.81660477
19	Steroid biosynthesis_Homo sapiens_hsa00100	1.76777030
20	Collecting duct acid secretion_Homo sapiens_hsa04966	1.71389044
21	Proteasome_Homo sapiens_hsa03050	1.62791443
22	Homologous recombination_Homo sapiens_hsa03440	1.57602224
23	Huntingtons disease_Homo sapiens_hsa05016	1.52184126
24	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.43036296
25	Parkinsons disease_Homo sapiens_hsa05012	1.42542932
26	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.37590676
27	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.33354781
28	Oxidative phosphorylation_Homo sapiens_hsa00190	1.31618492
29	Fanconi anemia pathway_Homo sapiens_hsa03460	1.30178114
30	Purine metabolism_Homo sapiens_hsa00230	1.19053811
31	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.16952145
32	Fatty acid elongation_Homo sapiens_hsa00062	1.13752938
33	Cardiac muscle contraction_Homo sapiens_hsa04260	1.12971310
34	Sulfur metabolism_Homo sapiens_hsa00920	1.12060746
35	Nucleotide excision repair_Homo sapiens_hsa03420	1.09473496
36	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.02701500
37	Taste transduction_Homo sapiens_hsa04742	1.00119156
38	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.99435847
39	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.98232362
40	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.96934108
41	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.92155738
42	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.88979427
43	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.87336617
44	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.77299055
45	Protein export_Homo sapiens_hsa03060	0.74865432
46	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.74786594
47	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.71361744
48	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.62344980
49	Vibrio cholerae infection_Homo sapiens_hsa05110	0.61668663
50	Viral carcinogenesis_Homo sapiens_hsa05203	0.60455105
51	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.58070716
52	Herpes simplex infection_Homo sapiens_hsa05168	0.53257419
53	Glutathione metabolism_Homo sapiens_hsa00480	0.52945603
54	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.52163133
55	Phototransduction_Homo sapiens_hsa04744	0.50211706
56	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.49261687
57	Wnt signaling pathway_Homo sapiens_hsa04310	0.48918695
58	Selenocompound metabolism_Homo sapiens_hsa00450	0.45392478
59	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.44528307
60	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.41914450
61	Sulfur relay system_Homo sapiens_hsa04122	0.40467993
62	Metabolic pathways_Homo sapiens_hsa01100	0.39130970
63	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.38902621
64	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.37686057
65	MicroRNAs in cancer_Homo sapiens_hsa05206	0.36911147
66	Hippo signaling pathway_Homo sapiens_hsa04390	0.35350986
67	Caffeine metabolism_Homo sapiens_hsa00232	0.31618077
68	Arginine and proline metabolism_Homo sapiens_hsa00330	0.28741554
69	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.27610853
70	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.27432201
71	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.25906598
72	Non-homologous end-joining_Homo sapiens_hsa03450	0.25119098
73	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.24150248
74	Alzheimers disease_Homo sapiens_hsa05010	0.23552660
75	Shigellosis_Homo sapiens_hsa05131	0.23108036
76	Mineral absorption_Homo sapiens_hsa04978	0.22382844
77	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.21847005
78	Olfactory transduction_Homo sapiens_hsa04740	0.20709078
79	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.19081763
80	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.18912860
81	Tight junction_Homo sapiens_hsa04530	0.17108576
82	Nitrogen metabolism_Homo sapiens_hsa00910	0.13886819
83	Small cell lung cancer_Homo sapiens_hsa05222	0.13072504
84	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.12315572
85	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.12289545
86	Protein digestion and absorption_Homo sapiens_hsa04974	0.12256363
87	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.11601215
88	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.10772961
89	AMPK signaling pathway_Homo sapiens_hsa04152	0.10039719
90	Insulin secretion_Homo sapiens_hsa04911	0.09762297
91	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.07674831
92	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.05525976
93	FoxO signaling pathway_Homo sapiens_hsa04068	0.05369312
94	Hepatitis B_Homo sapiens_hsa05161	0.04880775
95	HTLV-I infection_Homo sapiens_hsa05166	0.02682954
96	Rheumatoid arthritis_Homo sapiens_hsa05323	0.02201796
97	Nicotine addiction_Homo sapiens_hsa05033	0.01903405
98	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.00192850
99	Sphingolipid metabolism_Homo sapiens_hsa00600	-0.0130891
100	Bile secretion_Homo sapiens_hsa04976	-0.0012186

PRAMEF18

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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