ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of acrosome reaction (GO:0060046)	6.39564889
2	positive regulation of uterine smooth muscle contraction (GO:0070474)	5.60504580
3	multicellular organism reproduction (GO:0032504)	5.09322951
4	* negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	43.5729211
5	regulation of female gonad development (GO:2000194)	4.96168239
6	regulation of cytokine production involved in inflammatory response (GO:1900015)	4.96103997
7	male meiosis I (GO:0007141)	4.80407394
8	regulation of uterine smooth muscle contraction (GO:0070472)	4.36062615
9	regulation of female receptivity (GO:0045924)	4.27372873
10	drinking behavior (GO:0042756)	4.21656425
11	protein kinase C signaling (GO:0070528)	4.19301569
12	aggressive behavior (GO:0002118)	4.17258706
13	meiosis I (GO:0007127)	4.15968154
14	positive regulation of humoral immune response (GO:0002922)	4.07508315
15	regulation of penile erection (GO:0060405)	4.06949298
16	positive regulation of prostaglandin secretion (GO:0032308)	4.02677391
17	* regulation of retinoic acid receptor signaling pathway (GO:0048385)	36.2284425
18	hyperosmotic salinity response (GO:0042538)	3.93794524
19	regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	3.81146761
20	female mating behavior (GO:0060180)	3.71054153
21	regulation of DNA methylation (GO:0044030)	3.70270381
22	positive regulation of catecholamine secretion (GO:0033605)	3.60144370
23	positive regulation of digestive system process (GO:0060456)	3.59826909
24	negative regulation of digestive system process (GO:0060457)	3.56792961
25	sleep (GO:0030431)	3.55342526
26	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	3.51181138
27	oocyte development (GO:0048599)	3.51075050
28	regulation of prostaglandin secretion (GO:0032306)	3.43346599
29	reproduction (GO:0000003)	3.41311182
30	response to acidic pH (GO:0010447)	3.39335774
31	negative regulation of reproductive process (GO:2000242)	3.38694093
32	maturation of SSU-rRNA (GO:0030490)	3.38587645
33	mitotic chromosome condensation (GO:0007076)	3.30761185
34	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	3.26967972
35	glycine transport (GO:0015816)	3.15006703
36	binding of sperm to zona pellucida (GO:0007339)	3.07659843
37	cellular response to pH (GO:0071467)	2.98369431
38	regulation of norepinephrine secretion (GO:0014061)	2.94809990
39	maternal behavior (GO:0042711)	2.80805689
40	positive regulation of reproductive process (GO:2000243)	2.78500186
41	rRNA modification (GO:0000154)	2.75524917
42	male meiosis (GO:0007140)	2.69053182
43	rRNA methylation (GO:0031167)	2.63154161
44	transcription from mitochondrial promoter (GO:0006390)	2.61977093
45	positive regulation of icosanoid secretion (GO:0032305)	2.53537694
46	chaperone-mediated protein transport (GO:0072321)	2.46628435
47	parental behavior (GO:0060746)	2.46549667
48	telomere maintenance via telomere lengthening (GO:0010833)	2.43969281
49	sperm-egg recognition (GO:0035036)	2.39629358
50	mitotic metaphase plate congression (GO:0007080)	2.36545552
51	regulation of mitotic spindle organization (GO:0060236)	2.34634449
52	chromosome condensation (GO:0030261)	2.33965289
53	response to food (GO:0032094)	2.33262970
54	N-terminal protein amino acid acetylation (GO:0006474)	2.31785256
55	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.30800410
56	termination of RNA polymerase III transcription (GO:0006386)	2.30800410
57	positive regulation of renal sodium excretion (GO:0035815)	2.29176053
58	positive regulation of fatty acid transport (GO:2000193)	2.28679871
59	L-amino acid import (GO:0043092)	2.28389029
60	single fertilization (GO:0007338)	2.27487461
61	ribosome assembly (GO:0042255)	2.24635666
62	histone H3-K9 demethylation (GO:0033169)	2.23200981
63	regulation of spindle organization (GO:0090224)	2.22033599
64	protein K6-linked ubiquitination (GO:0085020)	2.21282038
65	viral transcription (GO:0019083)	2.19389418
66	chaperone mediated protein folding requiring cofactor (GO:0051085)	2.16831892
67	translational termination (GO:0006415)	2.16273200
68	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	2.13405182
69	regulation of calcium ion-dependent exocytosis (GO:0017158)	2.10831367
70	autophagic vacuole assembly (GO:0000045)	2.09173479
71	meiotic cell cycle (GO:0051321)	2.05900656
72	ventricular cardiac muscle cell development (GO:0055015)	2.05836615
73	meiotic nuclear division (GO:0007126)	2.05125549
74	grooming behavior (GO:0007625)	2.01886629
75	regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	2.01164186
76	regulation of reproductive process (GO:2000241)	2.00903110
77	muscle organ morphogenesis (GO:0048644)	2.00627150
78	negative regulation of RNA splicing (GO:0033119)	1.99532847
79	ribosomal small subunit biogenesis (GO:0042274)	1.96901969
80	C21-steroid hormone biosynthetic process (GO:0006700)	1.95792481
81	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	1.95408532
82	regulation of steroid hormone secretion (GO:2000831)	1.94841477
83	regulation of urine volume (GO:0035809)	1.93800905
84	translational initiation (GO:0006413)	1.92246109
85	cell-cell recognition (GO:0009988)	1.90213805
86	response to prostaglandin E (GO:0034695)	1.89448049
87	regulation of G2/M transition of mitotic cell cycle (GO:0010389)	1.87638563
88	fertilization (GO:0009566)	1.86926523
89	DNA packaging (GO:0006323)	1.86644692
90	translational elongation (GO:0006414)	1.86521541
91	regulation of icosanoid secretion (GO:0032303)	1.85673681
92	metaphase plate congression (GO:0051310)	1.84890766
93	regulation of RNA export from nucleus (GO:0046831)	1.82976214
94	rRNA processing (GO:0006364)	1.81356963
95	regulation of exit from mitosis (GO:0007096)	1.79962613
96	transcription elongation from RNA polymerase II promoter (GO:0006368)	1.79910380
97	cellular protein complex disassembly (GO:0043624)	1.78077605
98	amino acid import (GO:0043090)	1.77754764
99	eating behavior (GO:0042755)	1.76742079
100	DNA replication initiation (GO:0006270)	1.75363384

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	5.04253397
2	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	5.04253397
3	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	5.04253397
4	NOTCH1_21737748_ChIP-Seq_TLL_Human	4.91728073
5	EZH2_22144423_ChIP-Seq_EOC_Human	4.88403760
6	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	4.33951916
7	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	4.16091022
8	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.87898880
9	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.68595100
10	ZNF274_21170338_ChIP-Seq_K562_Hela	3.49676416
11	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.33433835
12	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.14918343
13	FOXM1_23109430_ChIP-Seq_U2OS_Human	3.03699416
14	RBPJ_21746931_ChIP-Seq_IB4_Human	2.91741526
15	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.84924582
16	* ETV1_20927104_ChIP-Seq_GIST48_Human	2.77269155
17	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.73790485
18	NFYB_21822215_ChIP-Seq_K562_Human	2.66460459
19	TBL1_22424771_ChIP-Seq_293T_Human	2.61686277
20	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.58445893
21	E2F7_22180533_ChIP-Seq_HELA_Human	2.55243009
22	TP63_19390658_ChIP-ChIP_HaCaT_Human	2.49258560
23	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.49221186
24	PHF8_20622853_ChIP-Seq_HELA_Human	2.48242134
25	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.31805212
26	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.27959274
27	MYC_18940864_ChIP-ChIP_HL60_Human	2.17328647
28	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.09205986
29	* GATA6_21074721_ChIP-Seq_CACO-2_Mouse	2.09203950
30	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.94649511
31	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.93847332
32	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.93381046
33	AR_21909140_ChIP-Seq_LNCAP_Human	1.93320583
34	* GATA6_21074721_ChIP-Seq_CACO-2_Human	1.92996904
35	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.87076874
36	* CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.83691097
37	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.66726757
38	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.65760931
39	VDR_23849224_ChIP-Seq_CD4+_Human	1.58641850
40	NFYA_21822215_ChIP-Seq_K562_Human	1.58183455
41	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.57534650
42	NANOG_20526341_ChIP-Seq_ESCs_Human	1.49188010
43	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.48985219
44	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.47494144
45	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.43629391
46	TTF2_22483619_ChIP-Seq_HELA_Human	1.43333420
47	KAP1_22055183_ChIP-Seq_ESCs_Mouse	1.41708109
48	XRN2_22483619_ChIP-Seq_HELA_Human	1.37311564
49	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.33410996
50	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.31535436
51	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.31494764
52	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.31066895
53	STAT1_20625510_ChIP-Seq_HELA_Human	1.30395367
54	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.28436906
55	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.27924798
56	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.27007158
57	RAC3_21632823_ChIP-Seq_H3396_Human	1.24696035
58	SOX2_21211035_ChIP-Seq_LN229_Human	1.23148625
59	GABP_19822575_ChIP-Seq_HepG2_Human	1.23031632
60	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.22916275
61	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.22224788
62	FOXP3_21729870_ChIP-Seq_TREG_Human	1.20877231
63	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.18784882
64	E2F1_20622854_ChIP-Seq_HELA_Human	1.16576162
65	ELK1_19687146_ChIP-ChIP_HELA_Human	1.11169543
66	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.09113356
67	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.05028899
68	CTCF_20526341_ChIP-Seq_ESCs_Human	1.03571275
69	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.02879654
70	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.00395408
71	CBX2_22325352_ChIP-Seq_293T-Rex_Human	0.99743410
72	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	0.98142709
73	LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.97534795
74	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.96894443
75	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.95748191
76	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	0.92915233
77	* CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.92374405
78	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.86923180
79	P53_21459846_ChIP-Seq_SAOS-2_Human	0.84647383
80	CTCF_21964334_Chip-Seq_Bcells_Human	0.83987887
81	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	0.82126304
82	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	0.81874925
83	TP53_22573176_ChIP-Seq_HFKS_Human	0.81171902
84	CIITA_25753668_ChIP-Seq_RAJI_Human	0.79224997
85	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.78889007
86	NCOR_22424771_ChIP-Seq_293T_Human	0.78878989
87	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.78092037
88	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.76639068
89	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	0.76617294
90	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.76334618
91	IRF1_19129219_ChIP-ChIP_H3396_Human	0.75769070
92	SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human	0.75229455
93	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.73796376
94	MYCN_18555785_ChIP-Seq_MESCs_Mouse	0.72505381
95	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	0.71193876
96	FOXH1_21741376_ChIP-Seq_ESCs_Human	0.70934077
97	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.70821116
98	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.69447265
99	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.66347627
100	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	0.65022306

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	5.10763866
2	MP0003718_maternal_effect	5.08107484
3	MP0001986_abnormal_taste_sensitivity	4.30688032
4	MP0009379_abnormal_foot_pigmentation	4.27382497
5	MP0005423_abnormal_somatic_nervous	3.94210950
6	MP0005394_taste/olfaction_phenotype	3.19393528
7	MP0005499_abnormal_olfactory_system	3.19393528
8	MP0009840_abnormal_foam_cell	3.02776294
9	MP0005410_abnormal_fertilization	2.93720132
10	MP0003693_abnormal_embryo_hatching	2.83302368
11	MP0005360_urolithiasis	2.71151277
12	MP0010307_abnormal_tumor_latency	2.70259448
13	MP0002127_abnormal_cardiovascular_syste	2.59897649
14	MP0006276_abnormal_autonomic_nervous	2.52938934
15	MP0001929_abnormal_gametogenesis	2.45228385
16	MP0002210_abnormal_sex_determination	2.37450130
17	MP0001881_abnormal_mammary_gland	2.21850524
18	MP0002160_abnormal_reproductive_system	2.20375282
19	MP0002277_abnormal_respiratory_mucosa	2.19779067
20	MP0003077_abnormal_cell_cycle	2.17030211
21	MP0008877_abnormal_DNA_methylation	2.16550245
22	MP0005647_abnormal_sex_gland	2.14724946
23	MP0004957_abnormal_blastocyst_morpholog	2.14671276
24	MP0003111_abnormal_nucleus_morphology	2.13451270
25	MP0005395_other_phenotype	2.11856954
26	MP0008789_abnormal_olfactory_epithelium	2.06863602
27	MP0002138_abnormal_hepatobiliary_system	2.06568638
28	MP0003699_abnormal_female_reproductive	1.94729947
29	MP0002254_reproductive_system_inflammat	1.82458373
30	MP0005389_reproductive_system_phenotype	1.81001988
31	MP0009333_abnormal_splenocyte_physiolog	1.75615084
32	MP0001502_abnormal_circadian_rhythm	1.73703493
33	MP0010094_abnormal_chromosome_stability	1.73177822
34	MP0000653_abnormal_sex_gland	1.70167236
35	MP0005646_abnormal_pituitary_gland	1.57802917
36	MP0008058_abnormal_DNA_repair	1.56547291
37	MP0003646_muscle_fatigue	1.56256085
38	MP0002161_abnormal_fertility/fecundity	1.52505292
39	MP0010030_abnormal_orbit_morphology	1.51798900
40	MP0008057_abnormal_DNA_replication	1.40739929
41	MP0008932_abnormal_embryonic_tissue	1.38913060
42	MP0003950_abnormal_plasma_membrane	1.38136068
43	MP0003195_calcinosis	1.37318133
44	MP0004142_abnormal_muscle_tone	1.35827629
45	MP0001119_abnormal_female_reproductive	1.33055254
46	MP0003698_abnormal_male_reproductive	1.32623877
47	MP0001145_abnormal_male_reproductive	1.31182062
48	MP0005380_embryogenesis_phenotype	1.24169083
49	MP0001672_abnormal_embryogenesis/_devel	1.24169083
50	MP0010368_abnormal_lymphatic_system	1.22939005
51	MP0005397_hematopoietic_system_phenotyp	1.19714121
52	MP0001545_abnormal_hematopoietic_system	1.19714121
53	MP0000372_irregular_coat_pigmentation	1.19582431
54	MP0000350_abnormal_cell_proliferation	1.19411865
55	MP0001730_embryonic_growth_arrest	1.14176309
56	MP0000627_abnormal_mammary_gland	1.07793927
57	MP0003136_yellow_coat_color	1.06587097
58	MP0003938_abnormal_ear_development	1.03484591
59	MP0002233_abnormal_nose_morphology	1.01734115
60	MP0001529_abnormal_vocalization	1.00597353
61	MP0002139_abnormal_hepatobiliary_system	0.98094800
62	MP0001293_anophthalmia	0.96874676
63	MP0001919_abnormal_reproductive_system	0.95558819
64	MP0004215_abnormal_myocardial_fiber	0.95111793
65	MP0003283_abnormal_digestive_organ	0.94080526
66	MP0003984_embryonic_growth_retardation	0.92105595
67	MP0008260_abnormal_autophagy	0.90491150
68	MP0005451_abnormal_body_composition	0.89599229
69	MP0004233_abnormal_muscle_weight	0.85789354
70	MP0002088_abnormal_embryonic_growth/wei	0.85733892
71	MP0003121_genomic_imprinting	0.80975847
72	MP0001440_abnormal_grooming_behavior	0.80631062
73	MP0001666_abnormal_nutrient_absorption	0.80341574
74	MP0001697_abnormal_embryo_size	0.80152069
75	MP0003941_abnormal_skin_development	0.78044564
76	MP0003866_abnormal_defecation	0.78001906
77	MP0003936_abnormal_reproductive_system	0.74419375
78	MP0000049_abnormal_middle_ear	0.71848126
79	MP0005197_abnormal_uvea_morphology	0.68301819
80	MP0003186_abnormal_redox_activity	0.67009220
81	MP0000762_abnormal_tongue_morphology	0.66087546
82	MP0000631_abnormal_neuroendocrine_gland	0.65818855
83	MP0006036_abnormal_mitochondrial_physio	0.65243257
84	MP0002873_normal_phenotype	0.65105340
85	MP0005085_abnormal_gallbladder_physiolo	0.65084262
86	MP0002169_no_abnormal_phenotype	0.64848741
87	MP0002269_muscular_atrophy	0.64488416
88	MP0003879_abnormal_hair_cell	0.63894099
89	MP0002080_prenatal_lethality	0.61972792
90	MP0003123_paternal_imprinting	0.61023625
91	MP0001968_abnormal_touch/_nociception	0.60874427
92	MP0002736_abnormal_nociception_after	0.59459577
93	MP0004019_abnormal_vitamin_homeostasis	0.58138936
94	MP0002084_abnormal_developmental_patter	0.58025917
95	MP0003890_abnormal_embryonic-extraembry	0.54693895
96	MP0002234_abnormal_pharynx_morphology	0.53380464
97	MP0008995_early_reproductive_senescence	0.53187934
98	MP0002085_abnormal_embryonic_tissue	0.52261572
99	MP0001984_abnormal_olfaction	0.50119253
100	MP0004808_abnormal_hematopoietic_stem	0.48956695

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Male infertility (HP:0003251)	8.55055471
2	Malnutrition (HP:0004395)	7.61895332
3	Premature ovarian failure (HP:0008209)	6.01795741
4	Aplasia/hypoplasia of the uterus (HP:0008684)	4.96414074
5	Rhinitis (HP:0012384)	4.37844241
6	Hypoplasia of the fovea (HP:0007750)	4.31359326
7	Aplasia/Hypoplasia of the fovea (HP:0008060)	4.31359326
8	Steatorrhea (HP:0002570)	4.22318197
9	Hypercortisolism (HP:0001578)	4.19403896
10	Sensory axonal neuropathy (HP:0003390)	4.10721646
11	Infertility (HP:0000789)	4.08339791
12	Hypoplasia of the uterus (HP:0000013)	4.00087139
13	Carpal bone hypoplasia (HP:0001498)	3.94807976
14	Myokymia (HP:0002411)	3.87516673
15	Muscle stiffness (HP:0003552)	3.50846660
16	Fat malabsorption (HP:0002630)	3.45563433
17	Anterior segment dysgenesis (HP:0007700)	3.42622032
18	Abnormality of the fovea (HP:0000493)	3.29264888
19	Abnormality of the septum pellucidum (HP:0007375)	3.26927489
20	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	3.26818756
21	Periauricular skin pits (HP:0100277)	3.25579710
22	Preauricular pit (HP:0004467)	3.25579710
23	Aplasia/Hypoplasia involving the musculature (HP:0001460)	3.20801529
24	Multiple enchondromatosis (HP:0005701)	3.20672598
25	Reticulocytopenia (HP:0001896)	3.20566674
26	Dysphonia (HP:0001618)	3.14639811
27	Hypergonadotropic hypogonadism (HP:0000815)	3.14538165
28	Hypophosphatemic rickets (HP:0004912)	3.09931814
29	Limb dystonia (HP:0002451)	2.88299386
30	Aplasia/hypoplasia of the humerus (HP:0006507)	2.86938977
31	Birth length less than 3rd percentile (HP:0003561)	2.86833776
32	Facial cleft (HP:0002006)	2.84259017
33	Congenital ichthyosiform erythroderma (HP:0007431)	2.81035979
34	Patent foramen ovale (HP:0001655)	2.78858382
35	Progressive muscle weakness (HP:0003323)	2.77648425
36	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.74503314
37	Aplasia/Hypoplasia of the macula (HP:0008059)	2.71553331
38	Short tibia (HP:0005736)	2.69601101
39	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	2.69416339
40	Microretrognathia (HP:0000308)	2.63662456
41	Glossoptosis (HP:0000162)	2.61426751
42	Constricted visual fields (HP:0001133)	2.60992460
43	Delayed CNS myelination (HP:0002188)	2.57397905
44	Aplasia/Hypoplasia affecting the retina (HP:0008061)	2.49898779
45	Fused cervical vertebrae (HP:0002949)	2.49750972
46	Progressive hearing impairment (HP:0001730)	2.47552828
47	Progressive sensorineural hearing impairment (HP:0000408)	2.45830170
48	Selective tooth agenesis (HP:0001592)	2.40837643
49	Impaired proprioception (HP:0010831)	2.37026361
50	Secondary amenorrhea (HP:0000869)	2.36425508
51	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.36096993
52	Adrenal overactivity (HP:0002717)	2.34379502
53	Absent septum pellucidum (HP:0001331)	2.33315947
54	Attenuation of retinal blood vessels (HP:0007843)	2.31045978
55	Cortical visual impairment (HP:0100704)	2.28312980
56	Cleft eyelid (HP:0000625)	2.28072621
57	Abnormality of cells of the erythroid lineage (HP:0012130)	2.25419459
58	Abnormality of monocarboxylic acid metabolism (HP:0010996)	2.23366129
59	Fibular aplasia (HP:0002990)	2.22910980
60	Sparse lateral eyebrow (HP:0005338)	2.18425183
61	Aplasia/Hypoplasia of the scapulae (HP:0006713)	2.17608388
62	Hypoplastic scapulae (HP:0000882)	2.17608388
63	Esotropia (HP:0000565)	2.16739961
64	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.15782241
65	Abnormality of the ileum (HP:0001549)	2.14619575
66	Pendular nystagmus (HP:0012043)	2.13313941
67	Meckel diverticulum (HP:0002245)	2.12957134
68	Impulsivity (HP:0100710)	2.12358971
69	Testicular atrophy (HP:0000029)	2.11472205
70	Poor suck (HP:0002033)	2.06767637
71	Cone-rod dystrophy (HP:0000548)	2.05523312
72	Skin pits (HP:0100276)	2.05065669
73	Abnormal number of erythroid precursors (HP:0012131)	2.04768306
74	Atresia of the external auditory canal (HP:0000413)	2.02783273
75	Abnormal pancreas size (HP:0012094)	2.02514987
76	Poor eye contact (HP:0000817)	2.00947962
77	Trismus (HP:0000211)	2.00496620
78	Choanal stenosis (HP:0000452)	1.97477540
79	Nausea (HP:0002018)	1.92175943
80	Macrocytic anemia (HP:0001972)	1.91581016
81	Tetraparesis (HP:0002273)	1.91197124
82	Absent radius (HP:0003974)	1.90250439
83	Central scotoma (HP:0000603)	1.89823830
84	Horizontal nystagmus (HP:0000666)	1.89244822
85	Osteomalacia (HP:0002749)	1.88381833
86	Abnormality of the preputium (HP:0100587)	1.87984480
87	Septo-optic dysplasia (HP:0100842)	1.87408439
88	Midline defect of the nose (HP:0004122)	1.87216114
89	Mutism (HP:0002300)	1.86002300
90	Abnormality of abdominal situs (HP:0011620)	1.83009809
91	Abdominal situs inversus (HP:0003363)	1.83009809
92	Mitral stenosis (HP:0001718)	1.82086416
93	Chronic sinusitis (HP:0011109)	1.81877093
94	Ureteral duplication (HP:0000073)	1.80980529
95	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.80600847
96	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.80600847
97	Retinal atrophy (HP:0001105)	1.80307593
98	Absent thumb (HP:0009777)	1.78933251
99	Absent forearm bone (HP:0003953)	1.78762228
100	Aplasia involving forearm bones (HP:0009822)	1.78762228

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TESK2	6.52297124
2	BUB1	4.93473443
3	LATS2	4.64003064
4	SRPK1	4.30437308
5	CDK19	4.02537411
6	STK16	3.70900933
7	BRSK2	3.52819800
8	TRIM28	3.22719547
9	NEK6	3.07108861
10	BRSK1	2.68410287
11	EIF2AK3	2.10385434
12	PLK1	1.91571575
13	MARK3	1.79362687
14	NEK2	1.64460146
15	ZAK	1.60697209
16	MAP3K9	1.52159234
17	AURKB	1.51598410
18	PLK3	1.47623437
19	TLK1	1.44882809
20	PRKCI	1.40124186
21	PBK	1.38810122
22	CDK7	1.38494978
23	PDK2	1.37991000
24	LRRK2	1.34351601
25	AURKA	1.22430171
26	DYRK3	1.21574419
27	NME1	1.17023200
28	MAP3K5	1.15867178
29	GSK3A	1.12335388
30	STK3	1.11666493
31	PKN1	1.11659340
32	WNK1	1.05709498
33	CDC7	1.05494118
34	CDK9	1.04702532
35	CHEK1	1.03194783
36	NTRK3	1.02727966
37	PIM2	1.01250253
38	CSNK1E	0.96611359
39	TAOK3	0.94052298
40	WNK3	0.90520568
41	MELK	0.88471367
42	STK24	0.86068484
43	EIF2AK1	0.83661893
44	CSNK2A2	0.80165883
45	CSNK2A1	0.74878797
46	PLK4	0.74738967
47	TTK	0.72103294
48	WEE1	0.71029523
49	ACVR1B	0.70652085
50	PAK1	0.70189949
51	ATR	0.69171674
52	CHEK2	0.65589701
53	CDK12	0.64691793
54	STK4	0.64491692
55	CDK2	0.61430951
56	AKT2	0.61372986
57	KDR	0.59290563
58	RAF1	0.59289106
59	PIM1	0.50122551
60	PAK2	0.50079790
61	STK39	0.45851444
62	CDK1	0.45682361
63	STK10	0.45117622
64	VRK2	0.43764581
65	OXSR1	0.43349524
66	DMPK	0.34686336
67	ARAF	0.33109442
68	STK38L	0.32332409
69	VRK1	0.31772788
70	MTOR	0.31474506
71	MAPK11	0.30944065
72	TAOK2	0.30721077
73	BCKDK	0.28944653
74	CLK1	0.27841503
75	ABL2	0.26789939
76	ATM	0.26158767
77	CDK11A	0.25194324
78	GSK3B	0.24968634
79	PRKD1	0.24911793
80	EIF2AK2	0.24754469
81	MAPK1	0.22650742
82	WNK4	0.21577937
83	MAP3K8	0.21207393
84	BRD4	0.21167786
85	PRKG1	0.21061114
86	MAPK9	0.18943209
87	TESK1	0.18280915
88	PRKCG	0.16930523
89	CAMK1	0.16770573
90	PDK1	0.15945990
91	NME2	0.15721174
92	RPS6KA1	0.15595355
93	MAPK14	0.15534797
94	CDK8	0.15380088
95	CSNK1D	0.13372289
96	PLK2	0.12457084
97	MAPKAPK2	0.12031230
98	PRKD2	0.11805131
99	CSNK1A1	0.09652671
100	LMTK2	0.08869043

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Basal transcription factors_Homo sapiens_hsa03022	6.26392689
2	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	4.51288912
3	Ribosome_Homo sapiens_hsa03010	4.37716847
4	RNA polymerase_Homo sapiens_hsa03020	3.94937379
5	mRNA surveillance pathway_Homo sapiens_hsa03015	3.67232589
6	Cell cycle_Homo sapiens_hsa04110	3.16604645
7	Regulation of autophagy_Homo sapiens_hsa04140	3.10032803
8	Folate biosynthesis_Homo sapiens_hsa00790	3.09316467
9	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.82363021
10	Spliceosome_Homo sapiens_hsa03040	2.79682627
11	RNA transport_Homo sapiens_hsa03013	2.75689852
12	Ovarian steroidogenesis_Homo sapiens_hsa04913	2.58954979
13	Taste transduction_Homo sapiens_hsa04742	2.51533836
14	Oocyte meiosis_Homo sapiens_hsa04114	2.45921554
15	p53 signaling pathway_Homo sapiens_hsa04115	2.18906576
16	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	2.17436074
17	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.65911221
18	Pyrimidine metabolism_Homo sapiens_hsa00240	1.42286928
19	Mismatch repair_Homo sapiens_hsa03430	1.36659472
20	Base excision repair_Homo sapiens_hsa03410	1.32561448
21	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.27953605
22	DNA replication_Homo sapiens_hsa03030	1.24327028
23	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.23840374
24	Huntingtons disease_Homo sapiens_hsa05016	1.21245912
25	Cardiac muscle contraction_Homo sapiens_hsa04260	1.21233025
26	Sulfur metabolism_Homo sapiens_hsa00920	1.18543838
27	Viral carcinogenesis_Homo sapiens_hsa05203	1.16189099
28	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.16076975
29	RNA degradation_Homo sapiens_hsa03018	1.09806111
30	Epstein-Barr virus infection_Homo sapiens_hsa05169	1.03004081
31	Fanconi anemia pathway_Homo sapiens_hsa03460	1.01081398
32	Parkinsons disease_Homo sapiens_hsa05012	0.98446313
33	Nucleotide excision repair_Homo sapiens_hsa03420	0.95932507
34	Olfactory transduction_Homo sapiens_hsa04740	0.89415284
35	Proteasome_Homo sapiens_hsa03050	0.87646846
36	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.87019701
37	Homologous recombination_Homo sapiens_hsa03440	0.84906932
38	Fatty acid elongation_Homo sapiens_hsa00062	0.83485250
39	Steroid biosynthesis_Homo sapiens_hsa00100	0.80232717
40	Purine metabolism_Homo sapiens_hsa00230	0.78406114
41	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.74124767
42	Serotonergic synapse_Homo sapiens_hsa04726	0.68199442
43	Herpes simplex infection_Homo sapiens_hsa05168	0.66790819
44	MicroRNAs in cancer_Homo sapiens_hsa05206	0.60975860
45	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.56591593
46	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.55182427
47	Wnt signaling pathway_Homo sapiens_hsa04310	0.52968002
48	ABC transporters_Homo sapiens_hsa02010	0.50985190
49	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.50629187
50	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.49354711
51	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.48656356
52	Caffeine metabolism_Homo sapiens_hsa00232	0.47646636
53	Hepatitis B_Homo sapiens_hsa05161	0.43380883
54	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.43225863
55	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.42907073
56	Oxidative phosphorylation_Homo sapiens_hsa00190	0.42594986
57	Acute myeloid leukemia_Homo sapiens_hsa05221	0.41481052
58	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.39432779
59	Protein export_Homo sapiens_hsa03060	0.39185986
60	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.39131841
61	Protein digestion and absorption_Homo sapiens_hsa04974	0.36413332
62	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.35336503
63	AMPK signaling pathway_Homo sapiens_hsa04152	0.35288947
64	Mineral absorption_Homo sapiens_hsa04978	0.34806959
65	Arginine and proline metabolism_Homo sapiens_hsa00330	0.34111223
66	Pyruvate metabolism_Homo sapiens_hsa00620	0.32786965
67	Insulin secretion_Homo sapiens_hsa04911	0.29065469
68	Small cell lung cancer_Homo sapiens_hsa05222	0.28848065
69	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.28823433
70	Bile secretion_Homo sapiens_hsa04976	0.28637278
71	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.26800821
72	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.25809688
73	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.24341942
74	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.24088337
75	GABAergic synapse_Homo sapiens_hsa04727	0.21881938
76	Alcoholism_Homo sapiens_hsa05034	0.21389837
77	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.21070023
78	Morphine addiction_Homo sapiens_hsa05032	0.19324984
79	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.15886003
80	Legionellosis_Homo sapiens_hsa05134	0.14553671
81	Influenza A_Homo sapiens_hsa05164	0.14315139
82	Metabolic pathways_Homo sapiens_hsa01100	0.14176796
83	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.12562340
84	Nicotine addiction_Homo sapiens_hsa05033	0.11751818
85	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.10651968
86	FoxO signaling pathway_Homo sapiens_hsa04068	0.10494537
87	Amphetamine addiction_Homo sapiens_hsa05031	0.09701005
88	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.09299812
89	Retinol metabolism_Homo sapiens_hsa00830	0.08702130
90	Propanoate metabolism_Homo sapiens_hsa00640	0.07774171
91	Glutathione metabolism_Homo sapiens_hsa00480	0.07638355
92	HTLV-I infection_Homo sapiens_hsa05166	0.06292466
93	Pancreatic secretion_Homo sapiens_hsa04972	0.06002185
94	mTOR signaling pathway_Homo sapiens_hsa04150	0.05961821
95	Tight junction_Homo sapiens_hsa04530	0.05917130
96	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.05214093
97	Pathways in cancer_Homo sapiens_hsa05200	0.04037608
98	Hippo signaling pathway_Homo sapiens_hsa04390	0.03296365
99	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.01177939
100	Histidine metabolism_Homo sapiens_hsa00340	0.00867685

PRAMEF5

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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