ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	positive regulation of protein homooligomerization (GO:0032464)	6.45910383
2	male meiosis I (GO:0007141)	6.34387202
3	transcription from mitochondrial promoter (GO:0006390)	5.93973040
4	regulation of acrosome reaction (GO:0060046)	5.52936627
5	meiosis I (GO:0007127)	5.49785509
6	autophagic vacuole assembly (GO:0000045)	4.67545531
7	fusion of sperm to egg plasma membrane (GO:0007342)	4.61930966
8	regulation of G0 to G1 transition (GO:0070316)	4.40331684
9	regulation of DNA methylation (GO:0044030)	4.39418964
10	regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	4.30403499
11	positive regulation of action potential (GO:0045760)	4.24494394
12	mitotic metaphase plate congression (GO:0007080)	4.19042065
13	rRNA modification (GO:0000154)	4.16147643
14	regulation of spindle organization (GO:0090224)	4.15203919
15	pseudouridine synthesis (GO:0001522)	4.07180501
16	piRNA metabolic process (GO:0034587)	4.05487132
17	chaperone-mediated protein transport (GO:0072321)	4.04452939
18	* negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	31.8576352
19	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	3.92950824
20	male meiosis (GO:0007140)	3.82121548
21	regulation of mitotic spindle organization (GO:0060236)	3.82023272
22	skeletal muscle tissue regeneration (GO:0043403)	3.74054633
23	very-low-density lipoprotein particle assembly (GO:0034379)	3.66142311
24	ribosomal small subunit biogenesis (GO:0042274)	3.61497958
25	ventricular cardiac muscle cell development (GO:0055015)	3.56061149
26	ribosome assembly (GO:0042255)	3.50881086
27	mitochondrial RNA metabolic process (GO:0000959)	3.47067655
28	response to UV-C (GO:0010225)	3.42220651
29	mitotic chromosome condensation (GO:0007076)	3.41198791
30	snRNA transcription (GO:0009301)	3.40739690
31	multicellular organism reproduction (GO:0032504)	3.39219191
32	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO	3.37697524
33	rRNA methylation (GO:0031167)	3.37238882
34	plasma membrane fusion (GO:0045026)	3.36582954
35	regulation of protein homooligomerization (GO:0032462)	3.33753070
36	polyamine biosynthetic process (GO:0006596)	3.32420305
37	termination of RNA polymerase III transcription (GO:0006386)	3.24174261
38	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.24174261
39	DNA methylation involved in gamete generation (GO:0043046)	3.20369692
40	metaphase plate congression (GO:0051310)	3.14887653
41	detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	3.08957927
42	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	3.06876808
43	positive regulation of cAMP-mediated signaling (GO:0043950)	3.06671601
44	attachment of spindle microtubules to kinetochore (GO:0008608)	3.04243606
45	* regulation of retinoic acid receptor signaling pathway (GO:0048385)	26.5749146
46	tRNA methylation (GO:0030488)	2.99569955
47	ribonucleoprotein complex biogenesis (GO:0022613)	2.99151417
48	ribosome biogenesis (GO:0042254)	2.98597399
49	meiotic nuclear division (GO:0007126)	2.93922202
50	maturation of SSU-rRNA (GO:0030490)	2.92198700
51	translational termination (GO:0006415)	2.91187525
52	regulation of transforming growth factor beta2 production (GO:0032909)	2.90932467
53	aggressive behavior (GO:0002118)	2.89939611
54	viral transcription (GO:0019083)	2.88645122
55	regulation of transforming growth factor beta1 production (GO:0032908)	2.82616703
56	negative regulation of DNA-templated transcription, elongation (GO:0032785)	2.77179357
57	protein K6-linked ubiquitination (GO:0085020)	2.76183760
58	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	2.73594957
59	positive regulation of protein oligomerization (GO:0032461)	2.71346371
60	meiotic cell cycle (GO:0051321)	2.69452203
61	ribosomal small subunit assembly (GO:0000028)	2.67591878
62	regulation of cardioblast differentiation (GO:0051890)	2.65173946
63	regulation of female receptivity (GO:0045924)	2.64780295
64	rRNA processing (GO:0006364)	2.64395275
65	exploration behavior (GO:0035640)	2.64300343
66	ribosomal large subunit biogenesis (GO:0042273)	2.61171273
67	positive regulation of catecholamine secretion (GO:0033605)	2.60729677
68	regulation of female gonad development (GO:2000194)	2.55687243
69	binding of sperm to zona pellucida (GO:0007339)	2.53864571
70	oocyte maturation (GO:0001556)	2.53265107
71	rRNA metabolic process (GO:0016072)	2.53230009
72	positive regulation of chromosome segregation (GO:0051984)	2.50919008
73	translational initiation (GO:0006413)	2.50572024
74	intestinal cholesterol absorption (GO:0030299)	2.49900385
75	meiotic cell cycle process (GO:1903046)	2.47529236
76	translational elongation (GO:0006414)	2.43476252
77	cellular biogenic amine biosynthetic process (GO:0042401)	2.43161002
78	chaperone mediated protein folding requiring cofactor (GO:0051085)	2.41189339
79	transcription from RNA polymerase III promoter (GO:0006383)	2.40733258
80	regulation of oxidative phosphorylation (GO:0002082)	2.38560121
81	cardiac muscle hypertrophy in response to stress (GO:0014898)	2.35463818
82	muscle hypertrophy in response to stress (GO:0003299)	2.35463818
83	cardiac muscle adaptation (GO:0014887)	2.35463818
84	positive regulation of uterine smooth muscle contraction (GO:0070474)	2.34924851
85	regulation of histone phosphorylation (GO:0033127)	2.33264044
86	maturation of 5.8S rRNA (GO:0000460)	2.31979848
87	female mating behavior (GO:0060180)	2.28083244
88	positive regulation of release of cytochrome c from mitochondria (GO:0090200)	2.27616540
89	regulation of cytokine production involved in inflammatory response (GO:1900015)	2.27070797
90	reproduction (GO:0000003)	2.26563124
91	amine biosynthetic process (GO:0009309)	2.26379951
92	sensory perception of taste (GO:0050909)	2.26086205
93	positive regulation of cardiac muscle cell proliferation (GO:0060045)	2.26036888
94	regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2	2.23942817
95	cellular protein complex disassembly (GO:0043624)	2.23165755
96	negative regulation of epidermal cell differentiation (GO:0045605)	2.22404462
97	regulation of G2/M transition of mitotic cell cycle (GO:0010389)	2.22301057
98	seminiferous tubule development (GO:0072520)	2.21214903
99	cellular component biogenesis (GO:0044085)	2.19836529
100	protein localization to chromosome, centromeric region (GO:0071459)	2.19472352

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	5.60054802
2	NOTCH1_21737748_ChIP-Seq_TLL_Human	5.01949866
3	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	4.58688395
4	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	4.30710664
5	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	4.30710664
6	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	4.30710664
7	EZH2_22144423_ChIP-Seq_EOC_Human	4.25788063
8	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.80291904
9	ZNF274_21170338_ChIP-Seq_K562_Hela	3.63057819
10	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.24726575
11	E2F7_22180533_ChIP-Seq_HELA_Human	3.16360067
12	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.08733951
13	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.93660087
14	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.85915998
15	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.74798623
16	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.57140458
17	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.54869712
18	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.54596184
19	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.47628490
20	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.33043089
21	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.24694922
22	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.18932211
23	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.09192358
24	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.94743726
25	* ETV1_20927104_ChIP-Seq_GIST48_Human	1.93058481
26	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.84113915
27	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.81361096
28	TTF2_22483619_ChIP-Seq_HELA_Human	1.76445213
29	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.76164284
30	* PHF8_20622853_ChIP-Seq_HELA_Human	1.73351782
31	* RBPJ_21746931_ChIP-Seq_IB4_Human	1.73071393
32	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.66577929
33	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.65741845
34	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.65133452
35	VDR_23849224_ChIP-Seq_CD4+_Human	1.63024192
36	* TBL1_22424771_ChIP-Seq_293T_Human	1.59343589
37	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.58014704
38	* CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.54551862
39	GABP_19822575_ChIP-Seq_HepG2_Human	1.50191362
40	* NFYB_21822215_ChIP-Seq_K562_Human	1.50148845
41	ZNF263_19887448_ChIP-Seq_K562_Human	1.49843701
42	* GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.49692450
43	* GATA6_21074721_ChIP-Seq_CACO-2_Human	1.49367552
44	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.46594129
45	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.43436277
46	TP53_22573176_ChIP-Seq_HFKS_Human	1.34710264
47	LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.33477179
48	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.30913352
49	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.29573354
50	XRN2_22483619_ChIP-Seq_HELA_Human	1.22581907
51	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.20830071
52	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.20602186
53	* HNFA_21074721_ChIP-Seq_CACO-2_Human	1.20400709
54	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.20360922
55	MYC_18940864_ChIP-ChIP_HL60_Human	1.16726101
56	RAC3_21632823_ChIP-Seq_H3396_Human	1.16470012
57	IRF1_19129219_ChIP-ChIP_H3396_Human	1.15025569
58	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.09066316
59	E2F1_20622854_ChIP-Seq_HELA_Human	1.08877023
60	RNF2_27304074_Chip-Seq_NSC_Mouse	1.08111310
61	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	1.07395361
62	* NFYA_21822215_ChIP-Seq_K562_Human	1.06174810
63	* CTCF_20526341_ChIP-Seq_ESCs_Human	1.06096683
64	AR_21909140_ChIP-Seq_LNCAP_Human	1.02942252
65	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.02107368
66	KAP1_22055183_ChIP-Seq_ESCs_Mouse	1.00447276
67	E2F4_17652178_ChIP-ChIP_JURKAT_Human	0.99878088
68	GATA1_26923725_Chip-Seq_HPCs_Mouse	0.97497824
69	SOX2_18555785_ChIP-Seq_MESCs_Mouse	0.96414422
70	FOXP3_21729870_ChIP-Seq_TREG_Human	0.95736728
71	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.95264121
72	ERA_21632823_ChIP-Seq_H3396_Human	0.93763313
73	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	0.93758062
74	NANOG_20526341_ChIP-Seq_ESCs_Human	0.92914860
75	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.92116383
76	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.91842919
77	KDM5A_27292631_Chip-Seq_BREAST_Human	0.91417298
78	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.90590477
79	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	0.90386592
80	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.89136419
81	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.83869880
82	HOXB7_26014856_ChIP-Seq_BT474_Human	0.82747136
83	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.82688913
84	CTCF_21964334_Chip-Seq_Bcells_Human	0.80470656
85	PHF8_20622854_ChIP-Seq_HELA_Human	0.80354899
86	STAT1_20625510_ChIP-Seq_HELA_Human	0.79937921
87	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	0.78504698
88	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.76804260
89	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	0.76224465
90	SFPI1_20887958_ChIP-Seq_HPC-7_Mouse	0.75502203
91	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.74651323
92	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	0.74600378
93	NCOR_22424771_ChIP-Seq_293T_Human	0.73933212
94	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.73789967
95	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.72709833
96	ELF1_17652178_ChIP-ChIP_JURKAT_Human	0.71890049
97	TET1_21451524_ChIP-Seq_MESCs_Mouse	0.68608303
98	CBX2_22325352_ChIP-Seq_293T-Rex_Human	0.68046786
99	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.66918469
100	DCP1A_22483619_ChIP-Seq_HELA_Human	0.66821900

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001986_abnormal_taste_sensitivity	7.44693242
2	MP0005423_abnormal_somatic_nervous	6.56825467
3	MP0009379_abnormal_foot_pigmentation	5.03560012
4	MP0003718_maternal_effect	3.95348896
5	MP0003693_abnormal_embryo_hatching	3.57348393
6	MP0006292_abnormal_olfactory_placode	3.44527753
7	MP0008260_abnormal_autophagy	3.34451826
8	MP0003646_muscle_fatigue	3.11850447
9	MP0008877_abnormal_DNA_methylation	3.04898792
10	MP0009333_abnormal_splenocyte_physiolog	2.30066735
11	MP0004957_abnormal_blastocyst_morpholog	2.17627121
12	MP0002127_abnormal_cardiovascular_syste	2.15907912
13	MP0003111_abnormal_nucleus_morphology	1.88364089
14	MP0002160_abnormal_reproductive_system	1.87537605
15	MP0002277_abnormal_respiratory_mucosa	1.85966956
16	MP0001929_abnormal_gametogenesis	1.85577081
17	MP0002210_abnormal_sex_determination	1.85569165
18	MP0010307_abnormal_tumor_latency	1.78264177
19	MP0005499_abnormal_olfactory_system	1.76523351
20	MP0005394_taste/olfaction_phenotype	1.76523351
21	MP0003077_abnormal_cell_cycle	1.73852554
22	MP0005395_other_phenotype	1.59827500
23	MP0000015_abnormal_ear_pigmentation	1.58440588
24	MP0008058_abnormal_DNA_repair	1.56164320
25	MP0000569_abnormal_digit_pigmentation	1.50511222
26	MP0010030_abnormal_orbit_morphology	1.43028009
27	MP0009840_abnormal_foam_cell	1.40929894
28	MP0005174_abnormal_tail_pigmentation	1.39430120
29	MP0005389_reproductive_system_phenotype	1.34599597
30	MP0006036_abnormal_mitochondrial_physio	1.33966933
31	MP0003943_abnormal_hepatobiliary_system	1.32358020
32	MP0008789_abnormal_olfactory_epithelium	1.30038555
33	MP0001672_abnormal_embryogenesis/_devel	1.28315618
34	MP0005380_embryogenesis_phenotype	1.28315618
35	MP0000462_abnormal_digestive_system	1.22318148
36	MP0000049_abnormal_middle_ear	1.21463394
37	MP0000653_abnormal_sex_gland	1.18048656
38	MP0005451_abnormal_body_composition	1.17519053
39	MP0003698_abnormal_male_reproductive	1.16945079
40	MP0003699_abnormal_female_reproductive	1.12575358
41	MP0002161_abnormal_fertility/fecundity	1.08206920
42	MP0004885_abnormal_endolymph	1.08095216
43	MP0001145_abnormal_male_reproductive	1.06917877
44	MP0003984_embryonic_growth_retardation	1.06563542
45	MP0003938_abnormal_ear_development	1.06257747
46	MP0005410_abnormal_fertilization	1.05222107
47	MP0004019_abnormal_vitamin_homeostasis	1.05197485
48	MP0008995_early_reproductive_senescence	1.04333475
49	MP0003136_yellow_coat_color	1.02821344
50	MP0002088_abnormal_embryonic_growth/wei	1.02696679
51	MP0010094_abnormal_chromosome_stability	1.01334080
52	MP0001293_anophthalmia	0.97857767
53	MP0001666_abnormal_nutrient_absorption	0.95689866
54	MP0002138_abnormal_hepatobiliary_system	0.95687783
55	MP0000750_abnormal_muscle_regeneration	0.95613971
56	MP0003119_abnormal_digestive_system	0.94994474
57	MP0001730_embryonic_growth_arrest	0.93663908
58	MP0001697_abnormal_embryo_size	0.92455137
59	MP0000350_abnormal_cell_proliferation	0.90566744
60	MP0001881_abnormal_mammary_gland	0.90464953
61	MP0000358_abnormal_cell_content/	0.86092951
62	MP0003567_abnormal_fetal_cardiomyocyte	0.85801489
63	MP0005085_abnormal_gallbladder_physiolo	0.84668919
64	MP0001485_abnormal_pinna_reflex	0.84167083
65	MP0003283_abnormal_digestive_organ	0.84108043
66	MP0006276_abnormal_autonomic_nervous	0.83619733
67	MP0002102_abnormal_ear_morphology	0.81736375
68	MP0008057_abnormal_DNA_replication	0.80984287
69	MP0002095_abnormal_skin_pigmentation	0.80431951
70	MP0003936_abnormal_reproductive_system	0.79505446
71	MP0005647_abnormal_sex_gland	0.76688493
72	MP0003123_paternal_imprinting	0.76433618
73	MP0005646_abnormal_pituitary_gland	0.75930892
74	MP0005397_hematopoietic_system_phenotyp	0.74661355
75	MP0001545_abnormal_hematopoietic_system	0.74661355
76	MP0006035_abnormal_mitochondrial_morpho	0.73686177
77	MP0003121_genomic_imprinting	0.73370598
78	MP0001873_stomach_inflammation	0.73328090
79	MP0000631_abnormal_neuroendocrine_gland	0.67898690
80	MP0008932_abnormal_embryonic_tissue	0.67818886
81	MP0003787_abnormal_imprinting	0.67724100
82	MP0009046_muscle_twitch	0.67333288
83	MP0004270_analgesia	0.65806765
84	MP0001119_abnormal_female_reproductive	0.64479204
85	MP0002085_abnormal_embryonic_tissue	0.64383632
86	MP0003195_calcinosis	0.64024015
87	MP0001765_abnormal_ion_homeostasis	0.63683265
88	MP0003879_abnormal_hair_cell	0.63320352
89	MP0002873_normal_phenotype	0.63147481
90	MP0002169_no_abnormal_phenotype	0.62235006
91	MP0002080_prenatal_lethality	0.61752054
92	MP0000490_abnormal_crypts_of	0.59831265
93	MP0002735_abnormal_chemical_nociception	0.58983304
94	MP0002084_abnormal_developmental_patter	0.58917585
95	MP0000313_abnormal_cell_death	0.58828528
96	MP0001286_abnormal_eye_development	0.57440960
97	MP0000470_abnormal_stomach_morphology	0.55489846
98	MP0001919_abnormal_reproductive_system	0.54359322
99	MP0004133_heterotaxia	0.53021598
100	MP0000566_synostosis	0.52379228

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Male infertility (HP:0003251)	6.35274661
2	Abnormal pancreas size (HP:0012094)	4.85434585
3	Reticulocytopenia (HP:0001896)	4.76558920
4	Ureteral duplication (HP:0000073)	4.68982980
5	Patent foramen ovale (HP:0001655)	4.63049421
6	Hypercortisolism (HP:0001578)	4.44466596
7	Birth length less than 3rd percentile (HP:0003561)	4.24930296
8	Abnormality of the aortic arch (HP:0012303)	4.20136046
9	Double outlet right ventricle (HP:0001719)	4.11381099
10	Congenital malformation of the right heart (HP:0011723)	4.11381099
11	Ileus (HP:0002595)	3.83144723
12	Chromosomal breakage induced by crosslinking agents (HP:0003221)	3.82739128
13	Abnormality of the renal collecting system (HP:0004742)	3.68346653
14	Myopathic facies (HP:0002058)	3.62516627
15	Duplicated collecting system (HP:0000081)	3.56261988
16	Abnormality of the fetal cardiovascular system (HP:0010948)	3.42471050
17	Abnormal umbilical cord blood vessels (HP:0011403)	3.42471050
18	Single umbilical artery (HP:0001195)	3.42471050
19	Aplasia/hypoplasia of the uterus (HP:0008684)	3.36285522
20	Carpal bone hypoplasia (HP:0001498)	3.34657275
21	Aplasia/Hypoplasia involving the musculature (HP:0001460)	3.28574629
22	Absent thumb (HP:0009777)	3.25285861
23	Chromsome breakage (HP:0040012)	3.16538253
24	Hypergonadotropic hypogonadism (HP:0000815)	3.12201395
25	Abnormal number of incisors (HP:0011064)	2.95800066
26	Periauricular skin pits (HP:0100277)	2.87797262
27	Preauricular pit (HP:0004467)	2.87797262
28	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.86550279
29	Absent radius (HP:0003974)	2.81959450
30	Ectopic kidney (HP:0000086)	2.78043865
31	Midline defect of the nose (HP:0004122)	2.77151500
32	Meckel diverticulum (HP:0002245)	2.77134507
33	Dysautonomia (HP:0002459)	2.75739435
34	Abnormality of midbrain morphology (HP:0002418)	2.72642444
35	Molar tooth sign on MRI (HP:0002419)	2.72642444
36	Abnormality of the preputium (HP:0100587)	2.70866593
37	Abnormality of the ileum (HP:0001549)	2.68889599
38	Aplasia involving forearm bones (HP:0009822)	2.68819729
39	Absent forearm bone (HP:0003953)	2.68819729
40	Hypoplasia of the uterus (HP:0000013)	2.66982378
41	Short tibia (HP:0005736)	2.64361398
42	Stenosis of the external auditory canal (HP:0000402)	2.61986326
43	Concave nail (HP:0001598)	2.61785565
44	Supernumerary spleens (HP:0009799)	2.61273371
45	Horseshoe kidney (HP:0000085)	2.59738837
46	Premature ovarian failure (HP:0008209)	2.58279140
47	Truncus arteriosus (HP:0001660)	2.57964407
48	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.57483844
49	Infertility (HP:0000789)	2.54860601
50	Pancreatic cysts (HP:0001737)	2.52334730
51	Microretrognathia (HP:0000308)	2.51781250
52	Limb dystonia (HP:0002451)	2.48861518
53	Hypoglycemic seizures (HP:0002173)	2.45521987
54	Abnormality of pyrimidine metabolism (HP:0004353)	2.45460059
55	Posterior subcapsular cataract (HP:0007787)	2.38930906
56	Abnormality of the septum pellucidum (HP:0007375)	2.37178751
57	Fused cervical vertebrae (HP:0002949)	2.35806821
58	Abnormality of DNA repair (HP:0003254)	2.35208468
59	Adrenal overactivity (HP:0002717)	2.34794546
60	Constricted visual fields (HP:0001133)	2.33023953
61	Hypophosphatemic rickets (HP:0004912)	2.32099097
62	Osteomalacia (HP:0002749)	2.31580641
63	Progressive muscle weakness (HP:0003323)	2.31067978
64	Abnormality of cells of the erythroid lineage (HP:0012130)	2.30458357
65	Microvesicular hepatic steatosis (HP:0001414)	2.29752860
66	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.26517265
67	Dysphonia (HP:0001618)	2.22411844
68	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.18937107
69	Hypoplasia of the radius (HP:0002984)	2.14484554
70	Impaired social interactions (HP:0000735)	2.13090989
71	Abnormal social behavior (HP:0012433)	2.13090989
72	Breast hypoplasia (HP:0003187)	2.13029408
73	Hyperglycemia (HP:0003074)	2.12941463
74	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.10977638
75	Absent/shortened dynein arms (HP:0200106)	2.10977638
76	Congenital stationary night blindness (HP:0007642)	2.10410095
77	Glycosuria (HP:0003076)	2.06534575
78	Abnormality of urine glucose concentration (HP:0011016)	2.06534575
79	Abnormal number of erythroid precursors (HP:0012131)	2.06465433
80	Malnutrition (HP:0004395)	2.06184230
81	Progressive inability to walk (HP:0002505)	2.03126862
82	Short thumb (HP:0009778)	2.01967032
83	Optic nerve coloboma (HP:0000588)	1.97749692
84	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	1.96658717
85	Anhidrosis (HP:0000970)	1.96625087
86	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.94858313
87	Triphalangeal thumb (HP:0001199)	1.94024940
88	Facial cleft (HP:0002006)	1.92924151
89	Skin pits (HP:0100276)	1.92208957
90	Cleft eyelid (HP:0000625)	1.92048990
91	Abnormal rod and cone electroretinograms (HP:0008323)	1.88475936
92	Muscle stiffness (HP:0003552)	1.85186003
93	Pallor (HP:0000980)	1.84633534
94	Pendular nystagmus (HP:0012043)	1.84616201
95	Esotropia (HP:0000565)	1.84397192
96	Bradykinesia (HP:0002067)	1.84254363
97	Sensory axonal neuropathy (HP:0003390)	1.80524520
98	Symptomatic seizures (HP:0011145)	1.80255721
99	Absent septum pellucidum (HP:0001331)	1.79989199
100	Duplication of thumb phalanx (HP:0009942)	1.79560570

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BUB1	5.15208476
2	TESK2	4.29320104
3	SRPK1	3.58178220
4	LATS2	3.27297335
5	PBK	2.86285966
6	NTRK3	2.71817245
7	GRK1	2.57532705
8	TRIM28	2.21076125
9	PLK1	2.16500772
10	CDK19	2.14576988
11	TAOK3	2.14023782
12	SIK2	2.08981658
13	AURKA	2.04308465
14	ADRBK2	1.88581992
15	BRSK1	1.83200487
16	STK16	1.81558137
17	NEK2	1.74035947
18	BMX	1.73864959
19	PAK6	1.70463023
20	PDK2	1.69616249
21	PINK1	1.57546107
22	AURKB	1.55626069
23	RAF1	1.52638483
24	NEK6	1.50519756
25	NUAK1	1.49792898
26	DYRK3	1.48824944
27	BRSK2	1.38413923
28	PLK3	1.37804123
29	MARK3	1.33770957
30	CHEK2	1.30806829
31	INSRR	1.27435159
32	ZAK	1.14717358
33	CHEK1	1.10856537
34	MAP3K4	1.10605445
35	PIM1	1.06103743
36	KSR2	1.03545009
37	TLK1	0.99887543
38	PAK2	0.97435460
39	WNK3	0.92863168
40	TYRO3	0.92808915
41	PASK	0.91368422
42	CDK7	0.91087300
43	LMTK2	0.90370504
44	PLK4	0.88764422
45	PKN1	0.88281896
46	PAK1	0.88245279
47	CDC7	0.87785106
48	CDK9	0.86976359
49	STK4	0.83314853
50	MAP3K8	0.82742975
51	CSNK2A1	0.79446532
52	MAP3K2	0.77598982
53	PRKCI	0.75957250
54	AKT2	0.74971880
55	GSK3A	0.73349856
56	CDK2	0.71557510
57	PRKD2	0.70475471
58	STK3	0.67776882
59	MELK	0.66886538
60	PHKG2	0.65807454
61	PHKG1	0.65807454
62	KSR1	0.63552777
63	CSNK2A2	0.61956319
64	MAP3K5	0.61618191
65	TTK	0.61050285
66	CSNK1E	0.60282676
67	TAOK2	0.60019625
68	CDK1	0.59275732
69	WNK1	0.57963285
70	DYRK1A	0.57323322
71	CASK	0.57001412
72	MAPK11	0.56114291
73	PRKACB	0.53736066
74	ATR	0.53314761
75	KDR	0.52841760
76	NME1	0.50678035
77	LRRK2	0.50116548
78	DDR2	0.49871529
79	RPS6KA1	0.49679055
80	MAP2K1	0.48829059
81	PRKG1	0.48324702
82	STK10	0.46818473
83	ADRBK1	0.45124707
84	PIM2	0.44338680
85	CSNK1A1	0.43772165
86	MAPK1	0.43691548
87	TBK1	0.42174685
88	CDK3	0.40605065
89	BMPR1B	0.39969416
90	MTOR	0.38859272
91	ATM	0.38031795
92	PIK3CG	0.37780287
93	MAP3K9	0.36524372
94	VRK1	0.36296189
95	GSK3B	0.35049320
96	CDK4	0.33685705
97	WEE1	0.31710551
98	PRKACA	0.31479139
99	MAP3K1	0.30681169
100	MAPK14	0.30599568

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	5.02082371
2	Ribosome_Homo sapiens_hsa03010	5.00759554
3	Regulation of autophagy_Homo sapiens_hsa04140	4.78372697
4	Basal transcription factors_Homo sapiens_hsa03022	4.29047542
5	RNA polymerase_Homo sapiens_hsa03020	3.88070994
6	RNA transport_Homo sapiens_hsa03013	3.10235480
7	mRNA surveillance pathway_Homo sapiens_hsa03015	3.09031611
8	Folate biosynthesis_Homo sapiens_hsa00790	2.86567647
9	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.67808416
10	Selenocompound metabolism_Homo sapiens_hsa00450	2.51932793
11	Taste transduction_Homo sapiens_hsa04742	2.40084025
12	Spliceosome_Homo sapiens_hsa03040	2.15813086
13	Cell cycle_Homo sapiens_hsa04110	2.14787066
14	RNA degradation_Homo sapiens_hsa03018	2.04127721
15	Oocyte meiosis_Homo sapiens_hsa04114	1.84216576
16	p53 signaling pathway_Homo sapiens_hsa04115	1.81023734
17	Pyrimidine metabolism_Homo sapiens_hsa00240	1.76276481
18	Base excision repair_Homo sapiens_hsa03410	1.69179346
19	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.54923352
20	Fanconi anemia pathway_Homo sapiens_hsa03460	1.54513175
21	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.47758224
22	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.40311237
23	Steroid biosynthesis_Homo sapiens_hsa00100	1.37111721
24	Homologous recombination_Homo sapiens_hsa03440	1.32928938
25	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.25852285
26	DNA replication_Homo sapiens_hsa03030	1.24793665
27	Cardiac muscle contraction_Homo sapiens_hsa04260	1.18381947
28	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	1.14168025
29	Huntingtons disease_Homo sapiens_hsa05016	1.11115911
30	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.01339559
31	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.99439029
32	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.98315522
33	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.94614236
34	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.92785796
35	Purine metabolism_Homo sapiens_hsa00230	0.91470738
36	Mismatch repair_Homo sapiens_hsa03430	0.89963480
37	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.84927552
38	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.78821074
39	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.78757279
40	Insulin secretion_Homo sapiens_hsa04911	0.77921421
41	Olfactory transduction_Homo sapiens_hsa04740	0.74876241
42	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.73394582
43	Viral carcinogenesis_Homo sapiens_hsa05203	0.71927300
44	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.66057108
45	Nicotine addiction_Homo sapiens_hsa05033	0.66055436
46	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.63185158
47	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.60512183
48	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.60308841
49	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.59187809
50	Herpes simplex infection_Homo sapiens_hsa05168	0.57269304
51	Sulfur metabolism_Homo sapiens_hsa00920	0.55231306
52	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.55142077
53	Parkinsons disease_Homo sapiens_hsa05012	0.53659652
54	Caffeine metabolism_Homo sapiens_hsa00232	0.52033705
55	Nitrogen metabolism_Homo sapiens_hsa00910	0.47907605
56	Wnt signaling pathway_Homo sapiens_hsa04310	0.47619683
57	Nucleotide excision repair_Homo sapiens_hsa03420	0.47182180
58	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.46978907
59	Glutathione metabolism_Homo sapiens_hsa00480	0.46731725
60	Phototransduction_Homo sapiens_hsa04744	0.44938171
61	Linoleic acid metabolism_Homo sapiens_hsa00591	0.43616807
62	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.40129774
63	MicroRNAs in cancer_Homo sapiens_hsa05206	0.38871829
64	Protein digestion and absorption_Homo sapiens_hsa04974	0.37828999
65	Arginine and proline metabolism_Homo sapiens_hsa00330	0.37436827
66	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.36843963
67	ABC transporters_Homo sapiens_hsa02010	0.33931248
68	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.31711411
69	Sphingolipid metabolism_Homo sapiens_hsa00600	0.29175989
70	Serotonergic synapse_Homo sapiens_hsa04726	0.29087307
71	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.28950072
72	Calcium signaling pathway_Homo sapiens_hsa04020	0.27834956
73	Hippo signaling pathway_Homo sapiens_hsa04390	0.27341411
74	Metabolic pathways_Homo sapiens_hsa01100	0.25726455
75	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.24550248
76	Ether lipid metabolism_Homo sapiens_hsa00565	0.24297299
77	Bile secretion_Homo sapiens_hsa04976	0.23846863
78	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.23647125
79	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.22953378
80	Fatty acid elongation_Homo sapiens_hsa00062	0.22240981
81	Morphine addiction_Homo sapiens_hsa05032	0.21065227
82	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.19963259
83	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.19845557
84	Collecting duct acid secretion_Homo sapiens_hsa04966	0.18591504
85	GABAergic synapse_Homo sapiens_hsa04727	0.17347356
86	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.13970555
87	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.13727688
88	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.13131972
89	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.10334234
90	Oxidative phosphorylation_Homo sapiens_hsa00190	0.10248067
91	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.09920560
92	Proteasome_Homo sapiens_hsa03050	0.09818116
93	MAPK signaling pathway_Homo sapiens_hsa04010	0.07763803
94	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.05088608
95	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.04768139
96	Chemical carcinogenesis_Homo sapiens_hsa05204	0.04314807
97	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.03781145
98	Mineral absorption_Homo sapiens_hsa04978	0.03387976
99	Circadian entrainment_Homo sapiens_hsa04713	0.02715751
100	Gastric acid secretion_Homo sapiens_hsa04971	0.02213124

PRAMEF20

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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