ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	positive regulation of protein homooligomerization (GO:0032464)	6.68526562
2	male meiosis I (GO:0007141)	5.71703785
3	transcription from mitochondrial promoter (GO:0006390)	5.23916863
4	rRNA modification (GO:0000154)	5.12135228
5	meiosis I (GO:0007127)	5.00433160
6	regulation of acrosome reaction (GO:0060046)	4.57172474
7	rRNA methylation (GO:0031167)	4.54970497
8	autophagic vacuole assembly (GO:0000045)	4.51877663
9	multicellular organism reproduction (GO:0032504)	4.39421092
10	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	4.32670769
11	regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	4.26857745
12	chaperone-mediated protein transport (GO:0072321)	4.21353644
13	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	36.1942483
14	regulation of retinoic acid receptor signaling pathway (GO:0048385)	30.4055006
15	regulation of DNA methylation (GO:0044030)	3.72502261
16	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.54495130
17	termination of RNA polymerase III transcription (GO:0006386)	3.54495130
18	regulation of protein homooligomerization (GO:0032462)	3.53527658
19	positive regulation of uterine smooth muscle contraction (GO:0070474)	3.50883419
20	regulation of G0 to G1 transition (GO:0070316)	3.47476698
21	ventricular cardiac muscle cell development (GO:0055015)	3.44934242
22	regulation of cytokine production involved in inflammatory response (GO:1900015)	3.43495499
23	male meiosis (GO:0007140)	3.36156724
24	mitotic metaphase plate congression (GO:0007080)	3.35525438
25	ribosome assembly (GO:0042255)	3.25929717
26	regulation of female gonad development (GO:2000194)	3.21316193
27	attachment of spindle microtubules to kinetochore (GO:0008608)	3.21271947
28	mitochondrial RNA metabolic process (GO:0000959)	3.14509285
29	very-low-density lipoprotein particle assembly (GO:0034379)	3.08916171
30	positive regulation of protein oligomerization (GO:0032461)	3.04024411
31	regulation of spindle organization (GO:0090224)	3.03806860
32	reproduction (GO:0000003)	3.02029688
33	maturation of SSU-rRNA (GO:0030490)	3.01744099
34	aggressive behavior (GO:0002118)	3.01555302
35	meiotic cell cycle (GO:0051321)	2.94450080
36	skeletal muscle tissue regeneration (GO:0043403)	2.91264382
37	piRNA metabolic process (GO:0034587)	2.89088914
38	protein K6-linked ubiquitination (GO:0085020)	2.87021590
39	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO	2.85358099
40	chaperone mediated protein folding requiring cofactor (GO:0051085)	2.84063428
41	positive regulation of cAMP-mediated signaling (GO:0043950)	2.81852788
42	mitotic chromosome condensation (GO:0007076)	2.81452879
43	regulation of female receptivity (GO:0045924)	2.79530227
44	maturation of 5.8S rRNA (GO:0000460)	2.77785291
45	protein kinase C signaling (GO:0070528)	2.75621348
46	transcription from RNA polymerase III promoter (GO:0006383)	2.75087751
47	regulation of penile erection (GO:0060405)	2.73775014
48	positive regulation of chromosome segregation (GO:0051984)	2.73630829
49	drinking behavior (GO:0042756)	2.71692620
50	metaphase plate congression (GO:0051310)	2.71544894
51	rRNA processing (GO:0006364)	2.71423184
52	ribosomal small subunit biogenesis (GO:0042274)	2.69601052
53	positive regulation of humoral immune response (GO:0002922)	2.69165385
54	snRNA transcription (GO:0009301)	2.68955427
55	hyperosmotic salinity response (GO:0042538)	2.64681262
56	response to UV-C (GO:0010225)	2.64067936
57	rRNA metabolic process (GO:0016072)	2.62883035
58	positive regulation of prostaglandin secretion (GO:0032308)	2.62568251
59	negative regulation of reproductive process (GO:2000242)	2.60620656
60	ribosome biogenesis (GO:0042254)	2.58071748
61	regulation of uterine smooth muscle contraction (GO:0070472)	2.58018018
62	regulation of mitotic spindle organization (GO:0060236)	2.56744045
63	detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	2.52587546
64	meiotic nuclear division (GO:0007126)	2.49800213
65	negative regulation of RNA splicing (GO:0033119)	2.49386494
66	glycine transport (GO:0015816)	2.46514020
67	ribonucleoprotein complex biogenesis (GO:0022613)	2.45824779
68	positive regulation of catecholamine secretion (GO:0033605)	2.42247666
69	N-terminal protein amino acid acetylation (GO:0006474)	2.42019020
70	positive regulation of release of cytochrome c from mitochondria (GO:0090200)	2.41282822
71	pseudouridine synthesis (GO:0001522)	2.41107088
72	sleep (GO:0030431)	2.39968306
73	binding of sperm to zona pellucida (GO:0007339)	2.39353513
74	exploration behavior (GO:0035640)	2.34408412
75	negative regulation of mRNA splicing, via spliceosome (GO:0048025)	2.34328917
76	positive regulation of digestive system process (GO:0060456)	2.32604673
77	female mating behavior (GO:0060180)	2.32225399
78	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	2.27565861
79	meiotic cell cycle process (GO:1903046)	2.27447691
80	polyamine biosynthetic process (GO:0006596)	2.27406008
81	oocyte development (GO:0048599)	2.27381627
82	histone mRNA metabolic process (GO:0008334)	2.26812917
83	regulation of G2/M transition of mitotic cell cycle (GO:0010389)	2.26121591
84	transcription elongation from RNA polymerase II promoter (GO:0006368)	2.25867842
85	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	2.23291171
86	telomere maintenance via telomere lengthening (GO:0010833)	2.22397823
87	response to acidic pH (GO:0010447)	2.22279999
88	DNA-templated transcription, elongation (GO:0006354)	2.17459851
89	negative regulation of mRNA processing (GO:0050686)	2.15879575
90	maternal behavior (GO:0042711)	2.15263897
91	mitotic sister chromatid segregation (GO:0000070)	2.15097073
92	positive regulation of cytokinesis (GO:0032467)	2.13587737
93	regulation of prostaglandin secretion (GO:0032306)	2.12703440
94	sensory perception of taste (GO:0050909)	2.11984740
95	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.11473845
96	sperm-egg recognition (GO:0035036)	2.11089831
97	negative regulation of digestive system process (GO:0060457)	2.10439387
98	DNA methylation involved in gamete generation (GO:0043046)	2.09152520
99	single fertilization (GO:0007338)	2.09017999
100	CENP-A containing nucleosome assembly (GO:0034080)	2.08948109

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	NOTCH1_21737748_ChIP-Seq_TLL_Human	5.07333244
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.46464557
3	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.88306007
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.87423203
5	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	3.86948757
6	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	3.86948757
7	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	3.86948757
8	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.48445864
9	ETS1_20019798_ChIP-Seq_JURKAT_Human	3.41792155
10	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.41200996
11	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.38037231
12	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.33875009
13	EZH2_22144423_ChIP-Seq_EOC_Human	3.10000756
14	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.03847733
15	* ZNF274_21170338_ChIP-Seq_K562_Hela	2.96997722
16	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.93070396
17	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.78162970
18	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.75835216
19	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.66126956
20	E2F7_22180533_ChIP-Seq_HELA_Human	2.62494645
21	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.30909457
22	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.27568157
23	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.25730028
24	VDR_23849224_ChIP-Seq_CD4+_Human	2.21124722
25	ETV1_20927104_ChIP-Seq_GIST48_Human	2.20722276
26	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.13890441
27	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.11759540
28	RBPJ_21746931_ChIP-Seq_IB4_Human	2.03407106
29	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.94450109
30	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.90890782
31	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.90318996
32	PHF8_20622853_ChIP-Seq_HELA_Human	1.89012390
33	NFYB_21822215_ChIP-Seq_K562_Human	1.84208894
34	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.77543242
35	TTF2_22483619_ChIP-Seq_HELA_Human	1.75789709
36	MYC_18940864_ChIP-ChIP_HL60_Human	1.75287143
37	TBL1_22424771_ChIP-Seq_293T_Human	1.74835905
38	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.74805555
39	GABP_19822575_ChIP-Seq_HepG2_Human	1.74423967
40	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.74270812
41	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.73201669
42	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.71246674
43	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.69908161
44	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.68092428
45	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.66385082
46	FOXP3_21729870_ChIP-Seq_TREG_Human	1.63977564
47	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.58411860
48	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.53015845
49	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.46538785
50	TP53_22573176_ChIP-Seq_HFKS_Human	1.46190321
51	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.45073446
52	ELK1_19687146_ChIP-ChIP_HELA_Human	1.41120395
53	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.41040181
54	XRN2_22483619_ChIP-Seq_HELA_Human	1.40332808
55	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.33131846
56	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.30363705
57	LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.25745812
58	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.25515353
59	KAP1_22055183_ChIP-Seq_ESCs_Mouse	1.21561792
60	NFYA_21822215_ChIP-Seq_K562_Human	1.21466930
61	CIITA_25753668_ChIP-Seq_RAJI_Human	1.20752809
62	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.19806205
63	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.17746329
64	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.17314931
65	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.16595660
66	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.16471897
67	IRF1_19129219_ChIP-ChIP_H3396_Human	1.16197452
68	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.12335430
69	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.05864960
70	AR_21909140_ChIP-Seq_LNCAP_Human	1.04924270
71	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.99789037
72	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.99074296
73	CTCF_20526341_ChIP-Seq_ESCs_Human	0.96556362
74	RAC3_21632823_ChIP-Seq_H3396_Human	0.95277545
75	VDR_22108803_ChIP-Seq_LS180_Human	0.93798900
76	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.93248195
77	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.92176963
78	HOXB7_26014856_ChIP-Seq_BT474_Human	0.91125509
79	KDM5A_27292631_Chip-Seq_BREAST_Human	0.89850644
80	DCP1A_22483619_ChIP-Seq_HELA_Human	0.89237500
81	MYCN_18555785_ChIP-Seq_MESCs_Mouse	0.86405594
82	NCOR_22424771_ChIP-Seq_293T_Human	0.85069866
83	STAT1_20625510_ChIP-Seq_HELA_Human	0.84971410
84	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.84897213
85	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.83763646
86	* NANOG_20526341_ChIP-Seq_ESCs_Human	0.83371110
87	ERA_21632823_ChIP-Seq_H3396_Human	0.82540129
88	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.82433547
89	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.82229158
90	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	0.81994633
91	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.80840216
92	E2F1_20622854_ChIP-Seq_HELA_Human	0.80684297
93	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.78933694
94	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.77998734
95	CBX2_22325352_ChIP-Seq_293T-Rex_Human	0.77398549
96	ZNF263_19887448_ChIP-Seq_K562_Human	0.76317684
97	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	0.76190992
98	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.75870423
99	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.75555856
100	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	0.75519785

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001986_abnormal_taste_sensitivity	8.39837115
2	MP0005423_abnormal_somatic_nervous	7.30744113
3	MP0003718_maternal_effect	4.26941457
4	MP0006292_abnormal_olfactory_placode	3.84606092
5	MP0009379_abnormal_foot_pigmentation	3.23493407
6	MP0003646_muscle_fatigue	3.15596297
7	MP0003693_abnormal_embryo_hatching	3.12733397
8	MP0008260_abnormal_autophagy	2.97352623
9	MP0004957_abnormal_blastocyst_morpholog	2.32312592
10	MP0003111_abnormal_nucleus_morphology	2.26348555
11	MP0008877_abnormal_DNA_methylation	2.14741761
12	MP0002127_abnormal_cardiovascular_syste	2.12739612
13	MP0003077_abnormal_cell_cycle	2.06063977
14	MP0005394_taste/olfaction_phenotype	2.04694247
15	MP0005499_abnormal_olfactory_system	2.04694247
16	MP0001929_abnormal_gametogenesis	1.97262989
17	MP0002160_abnormal_reproductive_system	1.90377408
18	MP0002210_abnormal_sex_determination	1.84521601
19	MP0008058_abnormal_DNA_repair	1.84199376
20	MP0005410_abnormal_fertilization	1.75328570
21	MP0010094_abnormal_chromosome_stability	1.72533959
22	MP0009333_abnormal_splenocyte_physiolog	1.72456807
23	MP0010307_abnormal_tumor_latency	1.69175989
24	MP0008789_abnormal_olfactory_epithelium	1.66913967
25	MP0005395_other_phenotype	1.65171389
26	MP0003136_yellow_coat_color	1.60881965
27	MP0005389_reproductive_system_phenotype	1.60819811
28	MP0002277_abnormal_respiratory_mucosa	1.56788710
29	MP0009840_abnormal_foam_cell	1.49747670
30	MP0006276_abnormal_autonomic_nervous	1.31568939
31	MP0005647_abnormal_sex_gland	1.31404272
32	MP0001881_abnormal_mammary_gland	1.26718851
33	MP0001529_abnormal_vocalization	1.26583236
34	MP0000653_abnormal_sex_gland	1.25707714
35	MP0003938_abnormal_ear_development	1.23824990
36	MP0003698_abnormal_male_reproductive	1.17985412
37	MP0003699_abnormal_female_reproductive	1.16299552
38	MP0008932_abnormal_embryonic_tissue	1.14951659
39	MP0010030_abnormal_orbit_morphology	1.12670418
40	MP0002161_abnormal_fertility/fecundity	1.12613843
41	MP0000372_irregular_coat_pigmentation	1.10981532
42	MP0002102_abnormal_ear_morphology	1.10804128
43	MP0001672_abnormal_embryogenesis/_devel	1.10471919
44	MP0005380_embryogenesis_phenotype	1.10471919
45	MP0001145_abnormal_male_reproductive	1.09194009
46	MP0000750_abnormal_muscle_regeneration	1.06719453
47	MP0006036_abnormal_mitochondrial_physio	1.05154070
48	MP0008995_early_reproductive_senescence	1.04643897
49	MP0005646_abnormal_pituitary_gland	1.04525539
50	MP0002138_abnormal_hepatobiliary_system	1.01114960
51	MP0003195_calcinosis	0.99562009
52	MP0001502_abnormal_circadian_rhythm	0.98087366
53	MP0004215_abnormal_myocardial_fiber	0.97389880
54	MP0000049_abnormal_middle_ear	0.94821239
55	MP0001968_abnormal_touch/_nociception	0.94632178
56	MP0000350_abnormal_cell_proliferation	0.93775068
57	MP0005360_urolithiasis	0.93292928
58	MP0001119_abnormal_female_reproductive	0.92141407
59	MP0001919_abnormal_reproductive_system	0.91801731
60	MP0006035_abnormal_mitochondrial_morpho	0.90360984
61	MP0003984_embryonic_growth_retardation	0.88839048
62	MP0003880_abnormal_central_pattern	0.86756982
63	MP0001697_abnormal_embryo_size	0.86273725
64	MP0002088_abnormal_embryonic_growth/wei	0.85225220
65	MP0001293_anophthalmia	0.85202810
66	MP0001730_embryonic_growth_arrest	0.84774331
67	MP0001666_abnormal_nutrient_absorption	0.84745281
68	MP0000631_abnormal_neuroendocrine_gland	0.84404429
69	MP0002254_reproductive_system_inflammat	0.82197683
70	MP0008057_abnormal_DNA_replication	0.80656312
71	MP0005551_abnormal_eye_electrophysiolog	0.77514531
72	MP0004142_abnormal_muscle_tone	0.77278151
73	MP0000358_abnormal_cell_content/	0.76140194
74	MP0002736_abnormal_nociception_after	0.72749190
75	MP0002735_abnormal_chemical_nociception	0.71367868
76	MP0003119_abnormal_digestive_system	0.69182582
77	MP0004019_abnormal_vitamin_homeostasis	0.66851538
78	MP0002233_abnormal_nose_morphology	0.65748630
79	MP0003943_abnormal_hepatobiliary_system	0.63091838
80	MP0001286_abnormal_eye_development	0.61526082
81	MP0002095_abnormal_skin_pigmentation	0.59880922
82	MP0003186_abnormal_redox_activity	0.59822355
83	MP0003252_abnormal_bile_duct	0.59402466
84	MP0004885_abnormal_endolymph	0.59136532
85	MP0002085_abnormal_embryonic_tissue	0.58309824
86	MP0003936_abnormal_reproductive_system	0.57892771
87	MP0002751_abnormal_autonomic_nervous	0.57426568
88	MP0000490_abnormal_crypts_of	0.56824963
89	MP0000015_abnormal_ear_pigmentation	0.56764175
90	MP0004924_abnormal_behavior	0.56297077
91	MP0005386_behavior/neurological_phenoty	0.56297077
92	MP0002084_abnormal_developmental_patter	0.56138526
93	MP0001346_abnormal_lacrimal_gland	0.55974605
94	MP0001486_abnormal_startle_reflex	0.55953636
95	MP0002873_normal_phenotype	0.54656766
96	MP0002169_no_abnormal_phenotype	0.54449204
97	MP0003890_abnormal_embryonic-extraembry	0.51829956
98	MP0002080_prenatal_lethality	0.51711772
99	MP0000462_abnormal_digestive_system	0.51228517
100	MP0001984_abnormal_olfaction	0.49421091

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Male infertility (HP:0003251)	7.38739766
2	Birth length less than 3rd percentile (HP:0003561)	4.75259615
3	Aplasia/hypoplasia of the uterus (HP:0008684)	4.74408714
4	Carpal bone hypoplasia (HP:0001498)	4.07797137
5	Hypercortisolism (HP:0001578)	3.99638739
6	Patent foramen ovale (HP:0001655)	3.90724917
7	Hypoplasia of the uterus (HP:0000013)	3.88272758
8	Abnormal pancreas size (HP:0012094)	3.82542354
9	Premature ovarian failure (HP:0008209)	3.78925604
10	Congenital malformation of the right heart (HP:0011723)	3.76145161
11	Double outlet right ventricle (HP:0001719)	3.76145161
12	Microvesicular hepatic steatosis (HP:0001414)	3.69560754
13	Short tibia (HP:0005736)	3.61435117
14	Aplasia/Hypoplasia of the tibia (HP:0005772)	3.38500342
15	Hypergonadotropic hypogonadism (HP:0000815)	3.11170024
16	Hypoplasia of the fovea (HP:0007750)	3.10319487
17	Aplasia/Hypoplasia of the fovea (HP:0008060)	3.10319487
18	Aplasia/Hypoplasia involving the musculature (HP:0001460)	3.09761392
19	Abnormality of the septum pellucidum (HP:0007375)	3.07637838
20	Malnutrition (HP:0004395)	3.07251886
21	Ureteral duplication (HP:0000073)	3.01380677
22	Abnormality of the aortic arch (HP:0012303)	3.01276580
23	Infertility (HP:0000789)	2.92826730
24	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.91982358
25	Abnormal umbilical cord blood vessels (HP:0011403)	2.82787393
26	Single umbilical artery (HP:0001195)	2.82787393
27	Abnormality of the fetal cardiovascular system (HP:0010948)	2.82787393
28	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.82576413
29	Pendular nystagmus (HP:0012043)	2.81294425
30	Constricted visual fields (HP:0001133)	2.80915055
31	Periauricular skin pits (HP:0100277)	2.71501732
32	Preauricular pit (HP:0004467)	2.71501732
33	Sensory axonal neuropathy (HP:0003390)	2.68436116
34	Microretrognathia (HP:0000308)	2.62429010
35	Fused cervical vertebrae (HP:0002949)	2.61724739
36	Stenosis of the external auditory canal (HP:0000402)	2.58029498
37	Rhinitis (HP:0012384)	2.53019829
38	Cleft eyelid (HP:0000625)	2.50082206
39	Horseshoe kidney (HP:0000085)	2.47081268
40	Abnormality of the fovea (HP:0000493)	2.46060459
41	Midline defect of the nose (HP:0004122)	2.43128502
42	Limb dystonia (HP:0002451)	2.40804761
43	Progressive muscle weakness (HP:0003323)	2.39311876
44	Absent septum pellucidum (HP:0001331)	2.37295096
45	Reticulocytopenia (HP:0001896)	2.36288006
46	Abnormal rod and cone electroretinograms (HP:0008323)	2.35592004
47	Dysphonia (HP:0001618)	2.32143189
48	Facial cleft (HP:0002006)	2.30587781
49	Absent radius (HP:0003974)	2.30533618
50	Hypoglycemic seizures (HP:0002173)	2.27276488
51	Supernumerary spleens (HP:0009799)	2.23934389
52	Abnormality of cells of the erythroid lineage (HP:0012130)	2.22598559
53	Aplasia involving forearm bones (HP:0009822)	2.22422608
54	Absent forearm bone (HP:0003953)	2.22422608
55	Multiple enchondromatosis (HP:0005701)	2.21587864
56	Attenuation of retinal blood vessels (HP:0007843)	2.19580730
57	Progressive inability to walk (HP:0002505)	2.19537301
58	Abnormal number of erythroid precursors (HP:0012131)	2.19354908
59	Concave nail (HP:0001598)	2.18549422
60	Adrenal overactivity (HP:0002717)	2.18154078
61	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.15652708
62	Posterior subcapsular cataract (HP:0007787)	2.12827182
63	Abnormality of the ileum (HP:0001549)	2.12812930
64	Meckel diverticulum (HP:0002245)	2.12414251
65	Reduced antithrombin III activity (HP:0001976)	2.12056117
66	Absent thumb (HP:0009777)	2.11377249
67	Ragged-red muscle fibers (HP:0003200)	2.09744578
68	Anterior segment dysgenesis (HP:0007700)	2.09424157
69	Molar tooth sign on MRI (HP:0002419)	2.09262431
70	Abnormality of midbrain morphology (HP:0002418)	2.09262431
71	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.08523745
72	Abnormality of alanine metabolism (HP:0010916)	2.08523745
73	Hyperalaninemia (HP:0003348)	2.08523745
74	Congenital stationary night blindness (HP:0007642)	2.05838975
75	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	2.03494179
76	Fibular aplasia (HP:0002990)	2.02653707
77	Delayed CNS myelination (HP:0002188)	2.00693555
78	Pancreatic cysts (HP:0001737)	1.99878903
79	Patellar aplasia (HP:0006443)	1.98592616
80	Aplasia/hypoplasia of the humerus (HP:0006507)	1.97149146
81	Breast hypoplasia (HP:0003187)	1.96299043
82	Abnormality of the pons (HP:0007361)	1.96215725
83	Hyperglycemia (HP:0003074)	1.95543155
84	Ependymoma (HP:0002888)	1.93948739
85	Increased serum lactate (HP:0002151)	1.91626400
86	Testicular atrophy (HP:0000029)	1.89500855
87	Tubulointerstitial nephritis (HP:0001970)	1.88697024
88	Aplasia/Hypoplasia of the patella (HP:0006498)	1.88134390
89	Impaired proprioception (HP:0010831)	1.87735901
90	Abnormal biliary tract morphology (HP:0012440)	1.86968301
91	Glossoptosis (HP:0000162)	1.86614121
92	Abnormality of the preputium (HP:0100587)	1.86385885
93	Hypoplasia of the pons (HP:0012110)	1.85474425
94	Poor eye contact (HP:0000817)	1.83923170
95	Ectopic kidney (HP:0000086)	1.82880742
96	Poor suck (HP:0002033)	1.80746476
97	Decreased central vision (HP:0007663)	1.79976265
98	Hypoplasia of the radius (HP:0002984)	1.79022250
99	Abnormal social behavior (HP:0012433)	1.77985543
100	Impaired social interactions (HP:0000735)	1.77985543

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BUB1	5.29636419
2	TESK2	4.77690562
3	SRPK1	4.50531025
4	LATS2	3.43652614
5	CDK19	3.35141899
6	TRIM28	3.23787207
7	STK16	3.14440364
8	BRSK2	2.81080361
9	BRSK1	2.47480201
10	TAOK3	2.22413655
11	PLK1	2.13229584
12	PLK3	1.94925200
13	NEK6	1.94610959
14	WNK3	1.79752930
15	DYRK3	1.77112143
16	MARK3	1.76658335
17	AURKA	1.59276466
18	EIF2AK3	1.54914130
19	AURKB	1.53994200
20	NEK2	1.53003143
21	ZAK	1.52927345
22	NUAK1	1.51621811
23	MAP4K2	1.49841970
24	PAK6	1.40000693
25	BMX	1.35940679
26	PDK2	1.28861665
27	PKN1	1.26247387
28	PLK4	1.24044078
29	PIM2	1.17646097
30	CHEK1	1.15471053
31	CHEK2	1.14656352
32	PINK1	1.13548354
33	NME1	1.04809226
34	NTRK3	1.02938207
35	ACVR1B	0.99557142
36	CDK7	0.98500072
37	EPHA4	0.97409564
38	CSNK2A1	0.93792269
39	MAP3K5	0.93199479
40	BMPR1B	0.92453261
41	TLK1	0.88141704
42	PRKCI	0.87180652
43	PIM1	0.84415367
44	PBK	0.83911148
45	ATR	0.83824152
46	GSK3A	0.81779981
47	MAP3K4	0.79294274
48	CSNK1E	0.75542100
49	CSNK2A2	0.72911854
50	TTK	0.69697647
51	PAK1	0.68582931
52	RAF1	0.68131852
53	PAK2	0.66376829
54	CDC7	0.65063019
55	STK3	0.63454324
56	CDK9	0.63266628
57	PRKD2	0.58732181
58	WEE1	0.57316598
59	CDK2	0.56721954
60	OXSR1	0.54784285
61	STK38L	0.54672940
62	MELK	0.54262674
63	VRK1	0.53919272
64	KDR	0.53562140
65	CDK1	0.52314489
66	MAPK13	0.50125339
67	CSNK1A1	0.49488671
68	AKT2	0.47584450
69	PRKG1	0.47571611
70	GRK1	0.46610959
71	FRK	0.46489446
72	PRKCE	0.46464674
73	ATM	0.45894008
74	PRKACB	0.42691591
75	RPS6KA1	0.40712776
76	MAPK11	0.40171475
77	STK10	0.37421858
78	WNK1	0.35808336
79	PRKCG	0.34984951
80	PRKD1	0.34296149
81	MAP2K7	0.34018644
82	EIF2AK2	0.33704253
83	MAPK1	0.33232579
84	STK39	0.32944093
85	STK4	0.32845490
86	TESK1	0.32798816
87	GSK3B	0.27149671
88	PRKACA	0.26912509
89	CDK11A	0.26781502
90	MUSK	0.25797167
91	INSRR	0.24661756
92	LRRK2	0.24043067
93	ADRBK2	0.23755620
94	MAPK14	0.23059735
95	CAMK2A	0.22916015
96	TNIK	0.22723850
97	MAP3K9	0.21393972
98	CAMK2G	0.21200400
99	ERBB4	0.20928875
100	ABL2	0.19204824

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	5.09981900
2	Basal transcription factors_Homo sapiens_hsa03022	5.01888109
3	Regulation of autophagy_Homo sapiens_hsa04140	4.99703215
4	RNA polymerase_Homo sapiens_hsa03020	4.27185823
5	Ribosome_Homo sapiens_hsa03010	3.85459850
6	RNA transport_Homo sapiens_hsa03013	2.92422055
7	mRNA surveillance pathway_Homo sapiens_hsa03015	2.86174297
8	Spliceosome_Homo sapiens_hsa03040	2.59403490
9	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.37396421
10	Cell cycle_Homo sapiens_hsa04110	2.30483521
11	Folate biosynthesis_Homo sapiens_hsa00790	2.19322697
12	Taste transduction_Homo sapiens_hsa04742	2.10302137
13	p53 signaling pathway_Homo sapiens_hsa04115	2.02654482
14	Oocyte meiosis_Homo sapiens_hsa04114	1.99311176
15	Pyrimidine metabolism_Homo sapiens_hsa00240	1.82508411
16	RNA degradation_Homo sapiens_hsa03018	1.79740072
17	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.79465864
18	Steroid biosynthesis_Homo sapiens_hsa00100	1.73021237
19	Mismatch repair_Homo sapiens_hsa03430	1.72045203
20	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.61218243
21	Base excision repair_Homo sapiens_hsa03410	1.57775010
22	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.54287411
23	DNA replication_Homo sapiens_hsa03030	1.47799466
24	Fanconi anemia pathway_Homo sapiens_hsa03460	1.42122911
25	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.30620917
26	Homologous recombination_Homo sapiens_hsa03440	1.29175846
27	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.25253195
28	Proteasome_Homo sapiens_hsa03050	1.14546237
29	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.09204969
30	Fatty acid elongation_Homo sapiens_hsa00062	1.09144516
31	Protein export_Homo sapiens_hsa03060	1.08247695
32	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.07560416
33	Huntingtons disease_Homo sapiens_hsa05016	1.06807818
34	Purine metabolism_Homo sapiens_hsa00230	1.05036909
35	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.99930668
36	Linoleic acid metabolism_Homo sapiens_hsa00591	0.99672235
37	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.89094685
38	Nicotine addiction_Homo sapiens_hsa05033	0.87725369
39	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.87666308
40	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.85211057
41	Parkinsons disease_Homo sapiens_hsa05012	0.84378022
42	Cardiac muscle contraction_Homo sapiens_hsa04260	0.83475922
43	Nucleotide excision repair_Homo sapiens_hsa03420	0.83093927
44	Sulfur metabolism_Homo sapiens_hsa00920	0.82380908
45	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.79750288
46	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.78188578
47	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.72990162
48	Ether lipid metabolism_Homo sapiens_hsa00565	0.69443050
49	Caffeine metabolism_Homo sapiens_hsa00232	0.69384736
50	Olfactory transduction_Homo sapiens_hsa04740	0.68849312
51	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.67864395
52	Viral carcinogenesis_Homo sapiens_hsa05203	0.63600440
53	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.63352467
54	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.59183603
55	Herpes simplex infection_Homo sapiens_hsa05168	0.58246020
56	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.58233087
57	Insulin secretion_Homo sapiens_hsa04911	0.50284084
58	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.48820423
59	Wnt signaling pathway_Homo sapiens_hsa04310	0.48764151
60	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.45529433
61	Phototransduction_Homo sapiens_hsa04744	0.43777216
62	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.43166963
63	Selenocompound metabolism_Homo sapiens_hsa00450	0.42951260
64	Serotonergic synapse_Homo sapiens_hsa04726	0.41556295
65	Nitrogen metabolism_Homo sapiens_hsa00910	0.41250305
66	Circadian rhythm_Homo sapiens_hsa04710	0.38922783
67	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.38490345
68	Glutathione metabolism_Homo sapiens_hsa00480	0.34711965
69	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.33954571
70	GABAergic synapse_Homo sapiens_hsa04727	0.33629460
71	Oxidative phosphorylation_Homo sapiens_hsa00190	0.32185816
72	MicroRNAs in cancer_Homo sapiens_hsa05206	0.30874363
73	Metabolic pathways_Homo sapiens_hsa01100	0.29853017
74	Arginine and proline metabolism_Homo sapiens_hsa00330	0.26812528
75	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.26566938
76	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.25809659
77	Propanoate metabolism_Homo sapiens_hsa00640	0.24238086
78	Hippo signaling pathway_Homo sapiens_hsa04390	0.22117174
79	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.21190176
80	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.19093209
81	ABC transporters_Homo sapiens_hsa02010	0.18989074
82	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.17793588
83	Morphine addiction_Homo sapiens_hsa05032	0.17107430
84	Non-homologous end-joining_Homo sapiens_hsa03450	0.16300578
85	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.13474644
86	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.13195864
87	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.12566705
88	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.11705404
89	FoxO signaling pathway_Homo sapiens_hsa04068	0.11360174
90	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.10285783
91	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.09871840
92	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.09229325
93	Mineral absorption_Homo sapiens_hsa04978	0.07798774
94	Hepatitis B_Homo sapiens_hsa05161	0.07396520
95	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.04901439
96	AMPK signaling pathway_Homo sapiens_hsa04152	0.04483524
97	Sulfur relay system_Homo sapiens_hsa04122	0.04213319
98	Alcoholism_Homo sapiens_hsa05034	0.03094249
99	Protein digestion and absorption_Homo sapiens_hsa04974	0.02639834
100	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.02040284

DUXA

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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