ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of acrosome reaction (GO:0060046)	6.11746615
2	positive regulation of uterine smooth muscle contraction (GO:0070474)	5.10192075
3	* negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	42.9211243
4	male meiosis I (GO:0007141)	4.88462667
5	multicellular organism reproduction (GO:0032504)	4.86552560
6	regulation of cytokine production involved in inflammatory response (GO:1900015)	4.72851753
7	regulation of female gonad development (GO:2000194)	4.69986849
8	meiosis I (GO:0007127)	4.27026983
9	regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	4.04811448
10	* regulation of retinoic acid receptor signaling pathway (GO:0048385)	35.6915581
11	protein kinase C signaling (GO:0070528)	3.99640727
12	regulation of uterine smooth muscle contraction (GO:0070472)	3.96179624
13	positive regulation of humoral immune response (GO:0002922)	3.95238915
14	drinking behavior (GO:0042756)	3.91569913
15	regulation of female receptivity (GO:0045924)	3.91228456
16	aggressive behavior (GO:0002118)	3.84707413
17	regulation of DNA methylation (GO:0044030)	3.79637878
18	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	3.74474608
19	hyperosmotic salinity response (GO:0042538)	3.71777044
20	regulation of penile erection (GO:0060405)	3.66463976
21	positive regulation of prostaglandin secretion (GO:0032308)	3.48073735
22	mitotic chromosome condensation (GO:0007076)	3.46358837
23	female mating behavior (GO:0060180)	3.42603946
24	negative regulation of digestive system process (GO:0060457)	3.39195700
25	oocyte development (GO:0048599)	3.35482558
26	negative regulation of reproductive process (GO:2000242)	3.32582642
27	maturation of SSU-rRNA (GO:0030490)	3.29646082
28	reproduction (GO:0000003)	3.29061241
29	response to acidic pH (GO:0010447)	3.27373763
30	positive regulation of digestive system process (GO:0060456)	3.24759787
31	positive regulation of catecholamine secretion (GO:0033605)	3.23896461
32	sleep (GO:0030431)	3.19337004
33	rRNA modification (GO:0000154)	3.17716478
34	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	3.15790811
35	transcription from mitochondrial promoter (GO:0006390)	3.13481520
36	glycine transport (GO:0015816)	2.99475020
37	regulation of prostaglandin secretion (GO:0032306)	2.96307684
38	cellular response to pH (GO:0071467)	2.95211314
39	rRNA methylation (GO:0031167)	2.94830730
40	binding of sperm to zona pellucida (GO:0007339)	2.94375590
41	chaperone-mediated protein transport (GO:0072321)	2.81560061
42	regulation of norepinephrine secretion (GO:0014061)	2.75070962
43	male meiosis (GO:0007140)	2.68188739
44	mitotic metaphase plate congression (GO:0007080)	2.66591295
45	positive regulation of reproductive process (GO:2000243)	2.66371377
46	positive regulation of protein homooligomerization (GO:0032464)	2.63318503
47	autophagic vacuole assembly (GO:0000045)	2.62796054
48	regulation of mitotic spindle organization (GO:0060236)	2.56899160
49	regulation of spindle organization (GO:0090224)	2.50494245
50	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.50128884
51	termination of RNA polymerase III transcription (GO:0006386)	2.50128884
52	maternal behavior (GO:0042711)	2.50018769
53	telomere maintenance via telomere lengthening (GO:0010833)	2.44659278
54	ribosome assembly (GO:0042255)	2.44471291
55	ventricular cardiac muscle cell development (GO:0055015)	2.42457223
56	N-terminal protein amino acid acetylation (GO:0006474)	2.38206135
57	chromosome condensation (GO:0030261)	2.37700650
58	chaperone mediated protein folding requiring cofactor (GO:0051085)	2.35937566
59	positive regulation of icosanoid secretion (GO:0032305)	2.31359058
60	viral transcription (GO:0019083)	2.27835047
61	sperm-egg recognition (GO:0035036)	2.27335430
62	ribosomal small subunit biogenesis (GO:0042274)	2.25036727
63	translational termination (GO:0006415)	2.24537843
64	meiotic cell cycle (GO:0051321)	2.24495338
65	histone H3-K9 demethylation (GO:0033169)	2.22272905
66	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	2.21096157
67	single fertilization (GO:0007338)	2.19612749
68	protein K6-linked ubiquitination (GO:0085020)	2.19179423
69	L-amino acid import (GO:0043092)	2.18401646
70	parental behavior (GO:0060746)	2.17879863
71	positive regulation of renal sodium excretion (GO:0035815)	2.17691156
72	response to food (GO:0032094)	2.16873780
73	regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	2.10801558
74	metaphase plate congression (GO:0051310)	2.09313741
75	positive regulation of fatty acid transport (GO:2000193)	2.06494508
76	negative regulation of RNA splicing (GO:0033119)	2.04805524
77	meiotic nuclear division (GO:0007126)	2.00618066
78	translational initiation (GO:0006413)	2.00291977
79	regulation of calcium ion-dependent exocytosis (GO:0017158)	2.00170608
80	regulation of G2/M transition of mitotic cell cycle (GO:0010389)	1.97877215
81	regulation of RNA export from nucleus (GO:0046831)	1.97424997
82	muscle organ morphogenesis (GO:0048644)	1.95268512
83	regulation of reproductive process (GO:2000241)	1.95138773
84	rRNA processing (GO:0006364)	1.94830497
85	regulation of exit from mitosis (GO:0007096)	1.94230687
86	translational elongation (GO:0006414)	1.93236229
87	protein localization to chromosome, centromeric region (GO:0071459)	1.92452153
88	DNA packaging (GO:0006323)	1.91310270
89	positive regulation of chromosome segregation (GO:0051984)	1.90838584
90	transcription elongation from RNA polymerase II promoter (GO:0006368)	1.90763281
91	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	1.89258913
92	regulation of G0 to G1 transition (GO:0070316)	1.88164100
93	ribosome biogenesis (GO:0042254)	1.87325471
94	ribonucleoprotein complex biogenesis (GO:0022613)	1.86225407
95	sensory perception of taste (GO:0050909)	1.84936339
96	regulation of steroid hormone secretion (GO:2000831)	1.84817056
97	regulation of urine volume (GO:0035809)	1.84373367
98	rRNA metabolic process (GO:0016072)	1.84365730
99	cellular protein complex disassembly (GO:0043624)	1.83758544
100	DNA replication initiation (GO:0006270)	1.83453717

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	5.05508303
2	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	5.05508303
3	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	5.05508303
4	NOTCH1_21737748_ChIP-Seq_TLL_Human	4.78531854
5	EZH2_22144423_ChIP-Seq_EOC_Human	4.53525854
6	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.86004580
7	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.85543487
8	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.79784991
9	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.49782376
10	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.37639413
11	FOXM1_23109430_ChIP-Seq_U2OS_Human	3.25373488
12	ZNF274_21170338_ChIP-Seq_K562_Hela	3.24330297
13	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.16612964
14	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.89916519
15	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.86280130
16	E2F7_22180533_ChIP-Seq_HELA_Human	2.72951377
17	RBPJ_21746931_ChIP-Seq_IB4_Human	2.72166167
18	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.67447671
19	* ETV1_20927104_ChIP-Seq_GIST48_Human	2.60309588
20	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.57795083
21	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.52169368
22	TP63_19390658_ChIP-ChIP_HaCaT_Human	2.45838537
23	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.33655736
24	PHF8_20622853_ChIP-Seq_HELA_Human	2.32913591
25	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	2.25613348
26	* NFYB_21822215_ChIP-Seq_K562_Human	2.19104737
27	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.15438715
28	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.15306742
29	* TBL1_22424771_ChIP-Seq_293T_Human	2.12372026
30	GATA6_21074721_ChIP-Seq_CACO-2_Human	2.10378632
31	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.09205170
32	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	2.01689532
33	MYC_18940864_ChIP-ChIP_HL60_Human	1.99583395
34	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.95804889
35	AR_21909140_ChIP-Seq_LNCAP_Human	1.83047800
36	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.79845209
37	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.73320299
38	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.64812942
39	VDR_23849224_ChIP-Seq_CD4+_Human	1.61813372
40	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.61552452
41	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.59701920
42	TTF2_22483619_ChIP-Seq_HELA_Human	1.53150198
43	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.51349433
44	XRN2_22483619_ChIP-Seq_HELA_Human	1.49219566
45	NFYA_21822215_ChIP-Seq_K562_Human	1.46155722
46	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.45466839
47	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.43982262
48	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.43213477
49	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.41307855
50	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.39127097
51	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.35985424
52	KAP1_22055183_ChIP-Seq_ESCs_Mouse	1.35487265
53	GABP_19822575_ChIP-Seq_HepG2_Human	1.35339545
54	NANOG_20526341_ChIP-Seq_ESCs_Human	1.35011440
55	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.33664790
56	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.33410173
57	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.33188296
58	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.29704283
59	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.28689065
60	FOXP3_21729870_ChIP-Seq_TREG_Human	1.24376470
61	STAT1_20625510_ChIP-Seq_HELA_Human	1.23004951
62	RAC3_21632823_ChIP-Seq_H3396_Human	1.21623546
63	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.15593998
64	SOX2_21211035_ChIP-Seq_LN229_Human	1.15062926
65	E2F1_20622854_ChIP-Seq_HELA_Human	1.14542580
66	CTCF_20526341_ChIP-Seq_ESCs_Human	1.08929299
67	LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.08880512
68	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.07420656
69	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.04682819
70	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.04136694
71	ELK1_19687146_ChIP-ChIP_HELA_Human	1.03003015
72	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.01592729
73	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.01372351
74	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.98025106
75	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.97247124
76	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	0.94574920
77	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.91916414
78	CBX2_22325352_ChIP-Seq_293T-Rex_Human	0.90999393
79	CTCF_21964334_Chip-Seq_Bcells_Human	0.88901913
80	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	0.87932885
81	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.87518456
82	CIITA_25753668_ChIP-Seq_RAJI_Human	0.87188307
83	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	0.86679750
84	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	0.86659292
85	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.84790633
86	P53_21459846_ChIP-Seq_SAOS-2_Human	0.81942408
87	MYCN_18555785_ChIP-Seq_MESCs_Mouse	0.80892238
88	TP53_22573176_ChIP-Seq_HFKS_Human	0.79349482
89	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	0.79311867
90	IRF1_19129219_ChIP-ChIP_H3396_Human	0.77721965
91	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.74723439
92	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.74163019
93	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	0.71166310
94	P68_20966046_ChIP-Seq_HELA_Human	0.70564817
95	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	0.70256020
96	NCOR_22424771_ChIP-Seq_293T_Human	0.69806144
97	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.69477826
98	SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human	0.68931832
99	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.68897025
100	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.68690531

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001986_abnormal_taste_sensitivity	5.39504056
2	MP0003718_maternal_effect	5.05786018
3	MP0006292_abnormal_olfactory_placode	4.92877752
4	MP0005423_abnormal_somatic_nervous	4.81625549
5	MP0009379_abnormal_foot_pigmentation	4.15091162
6	MP0009840_abnormal_foam_cell	3.24064584
7	MP0005394_taste/olfaction_phenotype	3.01640293
8	MP0005499_abnormal_olfactory_system	3.01640293
9	MP0005360_urolithiasis	2.93933477
10	MP0003693_abnormal_embryo_hatching	2.93492588
11	MP0005410_abnormal_fertilization	2.60772422
12	MP0002127_abnormal_cardiovascular_syste	2.57571577
13	MP0010307_abnormal_tumor_latency	2.53793419
14	MP0001929_abnormal_gametogenesis	2.31103401
15	MP0003111_abnormal_nucleus_morphology	2.29335367
16	MP0004957_abnormal_blastocyst_morpholog	2.25885775
17	MP0002210_abnormal_sex_determination	2.21769167
18	MP0003077_abnormal_cell_cycle	2.19273913
19	MP0002160_abnormal_reproductive_system	2.13476044
20	MP0002138_abnormal_hepatobiliary_system	2.13271279
21	MP0005395_other_phenotype	2.11845432
22	MP0006276_abnormal_autonomic_nervous	2.08534402
23	MP0001881_abnormal_mammary_gland	2.04930125
24	MP0008877_abnormal_DNA_methylation	2.00979263
25	MP0008789_abnormal_olfactory_epithelium	1.99392356
26	MP0002277_abnormal_respiratory_mucosa	1.98778426
27	MP0005647_abnormal_sex_gland	1.89860190
28	MP0009333_abnormal_splenocyte_physiolog	1.85263978
29	MP0003646_muscle_fatigue	1.81410517
30	MP0003699_abnormal_female_reproductive	1.81001210
31	MP0003195_calcinosis	1.70487043
32	MP0005389_reproductive_system_phenotype	1.70289201
33	MP0010094_abnormal_chromosome_stability	1.68777668
34	MP0008260_abnormal_autophagy	1.66691481
35	MP0010030_abnormal_orbit_morphology	1.64732964
36	MP0000653_abnormal_sex_gland	1.56991324
37	MP0008058_abnormal_DNA_repair	1.55732105
38	MP0005646_abnormal_pituitary_gland	1.53073761
39	MP0001502_abnormal_circadian_rhythm	1.47164026
40	MP0002161_abnormal_fertility/fecundity	1.45894902
41	MP0002139_abnormal_hepatobiliary_system	1.40091009
42	MP0008932_abnormal_embryonic_tissue	1.39866910
43	MP0010368_abnormal_lymphatic_system	1.34916988
44	MP0008057_abnormal_DNA_replication	1.33472622
45	MP0002254_reproductive_system_inflammat	1.29740199
46	MP0005380_embryogenesis_phenotype	1.24604465
47	MP0001672_abnormal_embryogenesis/_devel	1.24604465
48	MP0003698_abnormal_male_reproductive	1.23417839
49	MP0001145_abnormal_male_reproductive	1.22674076
50	MP0005451_abnormal_body_composition	1.21102386
51	MP0001119_abnormal_female_reproductive	1.19628426
52	MP0001730_embryonic_growth_arrest	1.18493175
53	MP0000350_abnormal_cell_proliferation	1.18023834
54	MP0005397_hematopoietic_system_phenotyp	1.12830007
55	MP0001545_abnormal_hematopoietic_system	1.12830007
56	MP0003136_yellow_coat_color	1.10358857
57	MP0001666_abnormal_nutrient_absorption	1.09978690
58	MP0004142_abnormal_muscle_tone	1.09528649
59	MP0000372_irregular_coat_pigmentation	1.05607387
60	MP0003938_abnormal_ear_development	1.02016779
61	MP0003950_abnormal_plasma_membrane	1.00309517
62	MP0005085_abnormal_gallbladder_physiolo	1.00091407
63	MP0003984_embryonic_growth_retardation	0.93399306
64	MP0001293_anophthalmia	0.92843411
65	MP0000627_abnormal_mammary_gland	0.92661682
66	MP0002233_abnormal_nose_morphology	0.91549095
67	MP0001529_abnormal_vocalization	0.89517781
68	MP0002088_abnormal_embryonic_growth/wei	0.86970117
69	MP0001919_abnormal_reproductive_system	0.86712810
70	MP0004215_abnormal_myocardial_fiber	0.83927640
71	MP0001697_abnormal_embryo_size	0.83528537
72	MP0003121_genomic_imprinting	0.80533783
73	MP0003879_abnormal_hair_cell	0.79226732
74	MP0006036_abnormal_mitochondrial_physio	0.77386120
75	MP0004019_abnormal_vitamin_homeostasis	0.76651790
76	MP0000049_abnormal_middle_ear	0.73939578
77	MP0003186_abnormal_redox_activity	0.71562238
78	MP0003283_abnormal_digestive_organ	0.67162798
79	MP0004233_abnormal_muscle_weight	0.66180594
80	MP0003936_abnormal_reproductive_system	0.65628712
81	MP0002080_prenatal_lethality	0.64262387
82	MP0002873_normal_phenotype	0.63821598
83	MP0002169_no_abnormal_phenotype	0.63562944
84	MP0001440_abnormal_grooming_behavior	0.62167152
85	MP0002269_muscular_atrophy	0.61094799
86	MP0005197_abnormal_uvea_morphology	0.60536013
87	MP0000631_abnormal_neuroendocrine_gland	0.58285625
88	MP0000762_abnormal_tongue_morphology	0.57763258
89	MP0003123_paternal_imprinting	0.56694926
90	MP0008995_early_reproductive_senescence	0.56536594
91	MP0002084_abnormal_developmental_patter	0.55018369
92	MP0002085_abnormal_embryonic_tissue	0.54371867
93	MP0003866_abnormal_defecation	0.49919581
94	MP0001984_abnormal_olfaction	0.49884070
95	MP0001286_abnormal_eye_development	0.48437488
96	MP0003252_abnormal_bile_duct	0.47438398
97	MP0003941_abnormal_skin_development	0.46287329
98	MP0000358_abnormal_cell_content/	0.45661270
99	MP0002234_abnormal_pharynx_morphology	0.45658414
100	MP0000750_abnormal_muscle_regeneration	0.45649122

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Male infertility (HP:0003251)	8.89406038
2	Malnutrition (HP:0004395)	6.94516352
3	Premature ovarian failure (HP:0008209)	5.78444452
4	Aplasia/hypoplasia of the uterus (HP:0008684)	4.85001126
5	Hypercortisolism (HP:0001578)	4.58207629
6	Carpal bone hypoplasia (HP:0001498)	4.29632264
7	Infertility (HP:0000789)	3.99521547
8	Hypoplasia of the fovea (HP:0007750)	3.98350115
9	Aplasia/Hypoplasia of the fovea (HP:0008060)	3.98350115
10	Steatorrhea (HP:0002570)	3.96296483
11	Rhinitis (HP:0012384)	3.94206953
12	Hypoplasia of the uterus (HP:0000013)	3.93274473
13	Sensory axonal neuropathy (HP:0003390)	3.86854331
14	Myokymia (HP:0002411)	3.62925293
15	Birth length less than 3rd percentile (HP:0003561)	3.43205499
16	Muscle stiffness (HP:0003552)	3.40460870
17	Abnormality of the septum pellucidum (HP:0007375)	3.35354872
18	Fat malabsorption (HP:0002630)	3.35093272
19	Aplasia/Hypoplasia involving the musculature (HP:0001460)	3.28538472
20	Preauricular pit (HP:0004467)	3.27705496
21	Periauricular skin pits (HP:0100277)	3.27705496
22	Hypergonadotropic hypogonadism (HP:0000815)	3.27246123
23	Reticulocytopenia (HP:0001896)	3.12120343
24	Anterior segment dysgenesis (HP:0007700)	3.12066079
25	Hypophosphatemic rickets (HP:0004912)	3.11893649
26	Dysphonia (HP:0001618)	3.10890256
27	Patent foramen ovale (HP:0001655)	3.05028209
28	Abnormality of the fovea (HP:0000493)	3.04955583
29	Abnormality of monocarboxylic acid metabolism (HP:0010996)	3.03895016
30	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	2.99399123
31	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.97838561
32	Short tibia (HP:0005736)	2.93343796
33	Multiple enchondromatosis (HP:0005701)	2.89051855
34	Facial cleft (HP:0002006)	2.85797528
35	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	2.77486915
36	Progressive muscle weakness (HP:0003323)	2.74177670
37	Microretrognathia (HP:0000308)	2.70640557
38	Aplasia/hypoplasia of the humerus (HP:0006507)	2.70261302
39	Delayed CNS myelination (HP:0002188)	2.68609848
40	Glossoptosis (HP:0000162)	2.58716821
41	Limb dystonia (HP:0002451)	2.58242760
42	Fused cervical vertebrae (HP:0002949)	2.57436649
43	Constricted visual fields (HP:0001133)	2.56736484
44	Aplasia/Hypoplasia of the macula (HP:0008059)	2.56156739
45	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.54729700
46	Progressive hearing impairment (HP:0001730)	2.48572772
47	Adrenal overactivity (HP:0002717)	2.46249351
48	Congenital ichthyosiform erythroderma (HP:0007431)	2.45537685
49	Absent septum pellucidum (HP:0001331)	2.45120300
50	Mitral stenosis (HP:0001718)	2.44491350
51	Cleft eyelid (HP:0000625)	2.41613163
52	Progressive sensorineural hearing impairment (HP:0000408)	2.36025514
53	Aplasia/Hypoplasia affecting the retina (HP:0008061)	2.35222992
54	Selective tooth agenesis (HP:0001592)	2.30745612
55	Sparse lateral eyebrow (HP:0005338)	2.26962516
56	Abnormal pancreas size (HP:0012094)	2.26205710
57	Impaired proprioception (HP:0010831)	2.26153202
58	Abnormality of cells of the erythroid lineage (HP:0012130)	2.25849893
59	Secondary amenorrhea (HP:0000869)	2.21410442
60	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.17684333
61	Cortical visual impairment (HP:0100704)	2.15111990
62	Osteomalacia (HP:0002749)	2.13922841
63	Midline defect of the nose (HP:0004122)	2.11988248
64	Impulsivity (HP:0100710)	2.11219775
65	Ureteral duplication (HP:0000073)	2.10643715
66	Testicular atrophy (HP:0000029)	2.09999455
67	Microvesicular hepatic steatosis (HP:0001414)	2.09220340
68	Skin pits (HP:0100276)	2.08587306
69	Fibular aplasia (HP:0002990)	2.07682210
70	Choanal stenosis (HP:0000452)	2.05979961
71	Atresia of the external auditory canal (HP:0000413)	2.05876529
72	Hypoglycemic seizures (HP:0002173)	2.04165240
73	Trismus (HP:0000211)	2.03897763
74	Poor suck (HP:0002033)	2.02756581
75	Absent radius (HP:0003974)	2.02309106
76	Abnormal number of erythroid precursors (HP:0012131)	2.01041120
77	Meckel diverticulum (HP:0002245)	2.00012095
78	Pendular nystagmus (HP:0012043)	1.99740086
79	Abnormality of the ileum (HP:0001549)	1.98197226
80	Attenuation of retinal blood vessels (HP:0007843)	1.97640202
81	Poor eye contact (HP:0000817)	1.96448873
82	Abdominal situs inversus (HP:0003363)	1.93682730
83	Abnormality of abdominal situs (HP:0011620)	1.93682730
84	Ragged-red muscle fibers (HP:0003200)	1.93004626
85	Macrocytic anemia (HP:0001972)	1.92986149
86	Esotropia (HP:0000565)	1.92902512
87	Abnormality of the fetal cardiovascular system (HP:0010948)	1.91033668
88	Abnormal umbilical cord blood vessels (HP:0011403)	1.91033668
89	Single umbilical artery (HP:0001195)	1.91033668
90	Absent thumb (HP:0009777)	1.90787042
91	Prolonged partial thromboplastin time (HP:0003645)	1.90368191
92	Aplasia involving forearm bones (HP:0009822)	1.90046900
93	Absent forearm bone (HP:0003953)	1.90046900
94	Hypoplastic scapulae (HP:0000882)	1.88856139
95	Aplasia/Hypoplasia of the scapulae (HP:0006713)	1.88856139
96	Nausea (HP:0002018)	1.88599571
97	Horseshoe kidney (HP:0000085)	1.88160331
98	Tetraparesis (HP:0002273)	1.86505960
99	Septo-optic dysplasia (HP:0100842)	1.84214524
100	Stenosis of the external auditory canal (HP:0000402)	1.82636126

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TESK2	6.47449850
2	BUB1	5.26569124
3	LATS2	4.80753436
4	SRPK1	4.41714201
5	CDK19	3.88379403
6	STK16	3.32869079
7	BRSK2	3.26872560
8	TRIM28	3.17736604
9	NEK6	3.01387346
10	BRSK1	2.79865701
11	PLK1	2.04698575
12	MARK3	1.90552487
13	EIF2AK3	1.79113005
14	NEK2	1.68186697
15	AURKB	1.63409370
16	PLK3	1.58519929
17	DYRK3	1.45506040
18	CDK7	1.43342275
19	AURKA	1.42844394
20	MAP3K9	1.40896168
21	PRKCI	1.32875337
22	ZAK	1.32566770
23	LRRK2	1.30719072
24	TLK1	1.17786664
25	GSK3A	1.16206588
26	CDK9	1.16143153
27	CDC7	1.14547741
28	CHEK1	1.13236212
29	PKN1	1.12287323
30	TAOK3	1.11995881
31	MAP3K5	1.11379920
32	NME1	1.10633010
33	PIM2	1.10580019
34	PBK	1.09123588
35	PDK2	1.07471486
36	NTRK3	1.03978611
37	WNK1	1.01834897
38	CSNK1E	0.98700271
39	STK3	0.94376307
40	WNK3	0.92928316
41	MELK	0.85800179
42	CSNK2A2	0.84795298
43	TTK	0.84259376
44	CSNK2A1	0.83693314
45	PLK4	0.81501415
46	PAK1	0.80525499
47	CDK12	0.78138656
48	RAF1	0.76792155
49	CHEK2	0.76315145
50	ATR	0.72886028
51	WEE1	0.71336276
52	EIF2AK1	0.71312808
53	CDK2	0.67641354
54	KDR	0.67635555
55	STK24	0.66388453
56	STK4	0.66184761
57	AKT2	0.64548315
58	PAK2	0.60512701
59	PIM1	0.59932466
60	ACVR1B	0.52699214
61	CDK1	0.52645005
62	MAPK11	0.49981068
63	MTOR	0.41698695
64	STK10	0.39425108
65	TESK1	0.37885771
66	TAOK2	0.37390925
67	DMPK	0.35203327
68	ARAF	0.33860235
69	CDK11A	0.32501578
70	PRKD1	0.32191587
71	ATM	0.31236137
72	PRKG1	0.30405766
73	GSK3B	0.28996692
74	ABL2	0.28807652
75	MAPK1	0.26645930
76	MAP3K8	0.26264677
77	CLK1	0.25646283
78	RPS6KA1	0.25462595
79	PRKD2	0.24418747
80	BCKDK	0.24416596
81	STK38L	0.23914468
82	VRK1	0.23879501
83	EIF2AK2	0.23764150
84	CDK8	0.23617741
85	BRD4	0.22797592
86	PRKCG	0.21265232
87	MAPK14	0.19879095
88	MAPK9	0.18793539
89	NME2	0.18793079
90	CSNK1D	0.16836892
91	CSNK1A1	0.16695616
92	MAPKAPK2	0.16126958
93	MAPK4	0.13822979
94	PRKACB	0.13621172
95	LMTK2	0.11902349
96	PRKACA	0.11753195
97	PDK1	0.11395173
98	PRPF4B	0.11180644
99	BMX	0.10771082
100	PAK6	0.10556044

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Basal transcription factors_Homo sapiens_hsa03022	6.00885475
2	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	4.66063282
3	Ribosome_Homo sapiens_hsa03010	4.45445232
4	RNA polymerase_Homo sapiens_hsa03020	4.02303089
5	mRNA surveillance pathway_Homo sapiens_hsa03015	3.63476319
6	Regulation of autophagy_Homo sapiens_hsa04140	3.55428809
7	Cell cycle_Homo sapiens_hsa04110	3.12702437
8	Folate biosynthesis_Homo sapiens_hsa00790	3.08355298
9	RNA transport_Homo sapiens_hsa03013	2.86089717
10	Spliceosome_Homo sapiens_hsa03040	2.82624780
11	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.74903235
12	Oocyte meiosis_Homo sapiens_hsa04114	2.44386689
13	Taste transduction_Homo sapiens_hsa04742	2.34313770
14	Ovarian steroidogenesis_Homo sapiens_hsa04913	2.28319635
15	p53 signaling pathway_Homo sapiens_hsa04115	2.25811025
16	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	2.12791963
17	Pyrimidine metabolism_Homo sapiens_hsa00240	1.58533149
18	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.52608461
19	Mismatch repair_Homo sapiens_hsa03430	1.45521233
20	Base excision repair_Homo sapiens_hsa03410	1.43375887
21	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.36048303
22	DNA replication_Homo sapiens_hsa03030	1.33489959
23	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.26908042
24	Sulfur metabolism_Homo sapiens_hsa00920	1.20165017
25	RNA degradation_Homo sapiens_hsa03018	1.17504208
26	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.09868640
27	Viral carcinogenesis_Homo sapiens_hsa05203	1.08875739
28	Huntingtons disease_Homo sapiens_hsa05016	1.08781786
29	Cardiac muscle contraction_Homo sapiens_hsa04260	1.06353329
30	Steroid biosynthesis_Homo sapiens_hsa00100	1.05652247
31	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.96863475
32	Fanconi anemia pathway_Homo sapiens_hsa03460	0.95633723
33	Fatty acid elongation_Homo sapiens_hsa00062	0.95031652
34	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.93350890
35	Nucleotide excision repair_Homo sapiens_hsa03420	0.90193576
36	Purine metabolism_Homo sapiens_hsa00230	0.80259023
37	Parkinsons disease_Homo sapiens_hsa05012	0.78303836
38	Olfactory transduction_Homo sapiens_hsa04740	0.73703551
39	Proteasome_Homo sapiens_hsa03050	0.72717832
40	Homologous recombination_Homo sapiens_hsa03440	0.72092186
41	Caffeine metabolism_Homo sapiens_hsa00232	0.68843896
42	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.67006278
43	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.66803652
44	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.65853488
45	Herpes simplex infection_Homo sapiens_hsa05168	0.65709045
46	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.64729857
47	MicroRNAs in cancer_Homo sapiens_hsa05206	0.61300616
48	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.58449525
49	Wnt signaling pathway_Homo sapiens_hsa04310	0.53683314
50	ABC transporters_Homo sapiens_hsa02010	0.52777941
51	Arginine and proline metabolism_Homo sapiens_hsa00330	0.52029761
52	Serotonergic synapse_Homo sapiens_hsa04726	0.51354748
53	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.48775597
54	Bile secretion_Homo sapiens_hsa04976	0.48749978
55	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.47116012
56	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.44778770
57	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.40108795
58	Hepatitis B_Homo sapiens_hsa05161	0.39906006
59	Protein export_Homo sapiens_hsa03060	0.39314640
60	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.38600882
61	AMPK signaling pathway_Homo sapiens_hsa04152	0.37546519
62	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.37041529
63	Retinol metabolism_Homo sapiens_hsa00830	0.36830753
64	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.35659760
65	Acute myeloid leukemia_Homo sapiens_hsa05221	0.33799623
66	Protein digestion and absorption_Homo sapiens_hsa04974	0.30543913
67	Insulin secretion_Homo sapiens_hsa04911	0.29530698
68	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.28389788
69	Small cell lung cancer_Homo sapiens_hsa05222	0.27902604
70	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.24540737
71	Arginine biosynthesis_Homo sapiens_hsa00220	0.23491575
72	Pyruvate metabolism_Homo sapiens_hsa00620	0.23148323
73	Metabolic pathways_Homo sapiens_hsa01100	0.19355922
74	Mineral absorption_Homo sapiens_hsa04978	0.18548249
75	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.17997340
76	GABAergic synapse_Homo sapiens_hsa04727	0.17463978
77	Oxidative phosphorylation_Homo sapiens_hsa00190	0.16814780
78	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.15782251
79	Complement and coagulation cascades_Homo sapiens_hsa04610	0.15543781
80	Alcoholism_Homo sapiens_hsa05034	0.14991184
81	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.14647880
82	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.13324125
83	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.12092757
84	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.11519247
85	Glutathione metabolism_Homo sapiens_hsa00480	0.11101286
86	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.10568844
87	FoxO signaling pathway_Homo sapiens_hsa04068	0.10450283
88	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.09277658
89	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.07522838
90	Chemical carcinogenesis_Homo sapiens_hsa05204	0.06624977
91	Influenza A_Homo sapiens_hsa05164	0.06317946
92	Nicotine addiction_Homo sapiens_hsa05033	0.06073739
93	Legionellosis_Homo sapiens_hsa05134	0.05308652
94	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.05082886
95	Amphetamine addiction_Homo sapiens_hsa05031	0.05022282
96	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.03628087
97	Morphine addiction_Homo sapiens_hsa05032	0.03594304
98	mTOR signaling pathway_Homo sapiens_hsa04150	0.02831099
99	Histidine metabolism_Homo sapiens_hsa00340	0.02253941
100	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.01783674

PRAMEF4

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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