ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	diterpenoid biosynthetic process (GO:0016102)	7.61946605
2	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	7.17508934
3	DNA unwinding involved in DNA replication (GO:0006268)	6.73180464
4	regulation of retinoic acid receptor signaling pathway (GO:0048385)	6.32909543
5	terpenoid biosynthetic process (GO:0016114)	5.67999692
6	rRNA modification (GO:0000154)	5.14740832
7	mating behavior (GO:0007617)	5.03262289
8	regulation of gene expression by genetic imprinting (GO:0006349)	4.96965684
9	transcription from mitochondrial promoter (GO:0006390)	4.94163225
10	very-low-density lipoprotein particle assembly (GO:0034379)	4.87080486
11	acrosome reaction (GO:0007340)	4.62566017
12	rRNA methylation (GO:0031167)	4.51905673
13	phosphorelay signal transduction system (GO:0000160)	4.44544660
14	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	4.40321893
15	pyrimidine-containing compound transmembrane transport (GO:0072531)	4.36862524
16	regulation of mitochondrial translation (GO:0070129)	4.36659502
17	male meiosis I (GO:0007141)	4.29289683
18	histone mRNA catabolic process (GO:0071044)	4.22201105
19	nucleotide transmembrane transport (GO:1901679)	4.17080414
20	seminiferous tubule development (GO:0072520)	4.02642003
21	regulation of cytokine secretion involved in immune response (GO:0002739)	4.01288561
22	negative regulation of epidermal cell differentiation (GO:0045605)	3.99897032
23	meiosis I (GO:0007127)	3.94416836
24	autophagic vacuole assembly (GO:0000045)	3.93130307
25	positive regulation of cGMP biosynthetic process (GO:0030828)	3.91464072
26	blastocyst development (GO:0001824)	3.86191046
27	DNA integration (GO:0015074)	3.85213381
28	DNA alkylation (GO:0006305)	3.81128078
29	DNA methylation (GO:0006306)	3.81128078
30	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.78936325
31	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.78936325
32	regulation of cilium movement (GO:0003352)	3.74467518
33	positive regulation of cAMP-mediated signaling (GO:0043950)	3.64731713
34	centriole replication (GO:0007099)	3.64031276
35	regulation of cGMP biosynthetic process (GO:0030826)	3.62880657
36	chromatin remodeling at centromere (GO:0031055)	3.60479824
37	cytochrome complex assembly (GO:0017004)	3.58542733
38	pseudouridine synthesis (GO:0001522)	3.51563578
39	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO	3.43129616
40	respiratory chain complex IV assembly (GO:0008535)	3.41409700
41	heart contraction (GO:0060047)	3.41260644
42	heart process (GO:0003015)	3.41260644
43	termination of RNA polymerase III transcription (GO:0006386)	3.40350942
44	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.40350942
45	negative regulation of cAMP-mediated signaling (GO:0043951)	3.37423697
46	regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)	3.35341629
47	positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)	3.35341629
48	protein-cofactor linkage (GO:0018065)	3.33138433
49	regulation of cellular respiration (GO:0043457)	3.31962075
50	positive regulation of cGMP metabolic process (GO:0030825)	3.30534985
51	genitalia morphogenesis (GO:0035112)	3.27820363
52	CENP-A containing nucleosome assembly (GO:0034080)	3.25739721
53	mitochondrial RNA metabolic process (GO:0000959)	3.25168521
54	L-fucose catabolic process (GO:0042355)	3.22305173
55	fucose catabolic process (GO:0019317)	3.22305173
56	L-fucose metabolic process (GO:0042354)	3.22305173
57	mitotic sister chromatid segregation (GO:0000070)	3.21765117
58	DNA methylation or demethylation (GO:0044728)	3.21605677
59	ventricular cardiac muscle cell development (GO:0055015)	3.19219058
60	response to xenobiotic stimulus (GO:0009410)	3.19173461
61	regulation of oxidative phosphorylation (GO:0002082)	3.18995834
62	genetic imprinting (GO:0071514)	3.16929606
63	positive regulation of protein homooligomerization (GO:0032464)	3.16274525
64	male meiosis (GO:0007140)	3.16133755
65	protein prenylation (GO:0018342)	3.16125787
66	prenylation (GO:0097354)	3.16125787
67	chaperone-mediated protein transport (GO:0072321)	3.14152693
68	histone exchange (GO:0043486)	3.13084307
69	mast cell degranulation (GO:0043303)	3.09136724
70	mast cell activation involved in immune response (GO:0002279)	3.09136724
71	mitochondrion degradation (GO:0000422)	3.09116146
72	phosphatidylethanolamine metabolic process (GO:0046337)	3.08612964
73	tryptophan catabolic process (GO:0006569)	3.04317702
74	indole-containing compound catabolic process (GO:0042436)	3.04317702
75	indolalkylamine catabolic process (GO:0046218)	3.04317702
76	embryonic camera-type eye development (GO:0031076)	3.01759252
77	regulation of cGMP metabolic process (GO:0030823)	2.99220801
78	positive regulation of mitotic sister chromatid separation (GO:1901970)	2.98692666
79	positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	2.98692666
80	positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)	2.98692666
81	DNA deamination (GO:0045006)	2.93290335
82	phosphatidylethanolamine biosynthetic process (GO:0006646)	2.91911081
83	meiotic nuclear division (GO:0007126)	2.89999356
84	DNA modification (GO:0006304)	2.89901967
85	regulation of meiosis I (GO:0060631)	2.88192034
86	piRNA metabolic process (GO:0034587)	2.83796184
87	phenylpropanoid metabolic process (GO:0009698)	2.82486941
88	organ formation (GO:0048645)	2.81896054
89	negative regulation of epidermis development (GO:0045683)	2.81013461
90	rRNA catabolic process (GO:0016075)	2.79454010
91	nucleotide transport (GO:0006862)	2.76812491
92	maturation of 5.8S rRNA (GO:0000460)	2.75912687
93	multicellular organism reproduction (GO:0032504)	2.75679474
94	recombinational repair (GO:0000725)	2.71677000
95	ribosome assembly (GO:0042255)	2.71489634
96	positive regulation of chromosome segregation (GO:0051984)	2.69876314
97	male gonad development (GO:0008584)	2.68304346
98	centriole assembly (GO:0098534)	2.68031082
99	DNA replication initiation (GO:0006270)	2.67315091
100	glucosamine-containing compound catabolic process (GO:1901072)	2.67194848

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	SALL1_21062744_ChIP-ChIP_HESCs_Human	8.67708413
2	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	5.23028569
3	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.65095819
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.46425890
5	E2F7_22180533_ChIP-Seq_HELA_Human	3.45327341
6	ZNF274_21170338_ChIP-Seq_K562_Hela	3.06613696
7	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.02620618
8	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.84143985
9	VDR_22108803_ChIP-Seq_LS180_Human	2.69450448
10	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.57898087
11	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.45522779
12	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.34688484
13	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.21480376
14	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.17063397
15	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.16569309
16	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.04024568
17	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.95900838
18	IGF1R_20145208_ChIP-Seq_DFB_Human	1.92669167
19	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.91266568
20	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.80212378
21	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.79699393
22	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.77328603
23	EZH2_22144423_ChIP-Seq_EOC_Human	1.75135636
24	IRF1_19129219_ChIP-ChIP_H3396_Human	1.58597081
25	TP53_22573176_ChIP-Seq_HFKS_Human	1.57033276
26	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.49803831
27	VDR_23849224_ChIP-Seq_CD4+_Human	1.44207998
28	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.44034083
29	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.44004429
30	CIITA_25753668_ChIP-Seq_RAJI_Human	1.42441791
31	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.38019281
32	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.37537624
33	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.37482095
34	ETV1_20927104_ChIP-Seq_GIST48_Human	1.36464669
35	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.35394040
36	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.33680807
37	PHF8_20622853_ChIP-Seq_HELA_Human	1.33176557
38	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.26781265
39	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.25150296
40	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.23411597
41	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.22152688
42	RBPJ_21746931_ChIP-Seq_IB4_Human	1.21788334
43	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.20752685
44	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.19956321
45	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.19895213
46	NFYB_21822215_ChIP-Seq_K562_Human	1.19868688
47	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.19677909
48	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.18013577
49	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.17556738
50	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.16698288
51	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.16613472
52	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.15300434
53	GATA3_26560356_Chip-Seq_TH1_Human	1.14787147
54	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.12994429
55	TBL1_22424771_ChIP-Seq_293T_Human	1.12256031
56	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.12140005
57	FOXP3_21729870_ChIP-Seq_TREG_Human	1.11372058
58	TAF15_26573619_Chip-Seq_HEK293_Human	1.07811485
59	HOXB7_26014856_ChIP-Seq_BT474_Human	1.06938480
60	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.06596901
61	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.06146529
62	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.05735439
63	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.05397447
64	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.05056356
65	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.04445946
66	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.02435476
67	NFYA_21822215_ChIP-Seq_K562_Human	1.02343882
68	KDM5A_27292631_Chip-Seq_BREAST_Human	1.00836918
69	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.00579959
70	SOX2_19829295_ChIP-Seq_ESCs_Human	1.00334315
71	NANOG_19829295_ChIP-Seq_ESCs_Human	1.00334315
72	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	0.98057427
73	EWS_26573619_Chip-Seq_HEK293_Human	0.97755489
74	* GATA3_21878914_ChIP-Seq_MCF-7_Human	0.97409462
75	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.96363569
76	PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse	0.95760219
77	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.95564254
78	WDR5_24793694_ChIP-Seq_LNCAP_Human	0.93650510
79	P300_19829295_ChIP-Seq_ESCs_Human	0.93378848
80	GABP_19822575_ChIP-Seq_HepG2_Human	0.93022504
81	STAT1_20625510_ChIP-Seq_HELA_Human	0.92737287
82	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.92282340
83	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.92282340
84	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	0.90734931
85	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	0.90340603
86	SMAD3_21741376_ChIP-Seq_HESCs_Human	0.86927829
87	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.85977823
88	TCF4_23295773_ChIP-Seq_U87_Human	0.85433088
89	E2F1_21310950_ChIP-Seq_MCF-7_Human	0.85048037
90	ELK1_19687146_ChIP-ChIP_HELA_Human	0.84472453
91	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	0.84180928
92	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.82291385
93	TTF2_22483619_ChIP-Seq_HELA_Human	0.82117786
94	ZNF263_19887448_ChIP-Seq_K562_Human	0.82050457
95	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.82022531
96	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.81795914
97	SALL4_22934838_ChIP-ChIP_CD34+_Human	0.81369040
98	CBX2_22325352_ChIP-Seq_293T-Rex_Human	0.81279395
99	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.80935289
100	MYC_18555785_ChIP-Seq_MESCs_Mouse	0.80015167

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001986_abnormal_taste_sensitivity	5.48653545
2	MP0008260_abnormal_autophagy	4.52553004
3	MP0008877_abnormal_DNA_methylation	4.20004626
4	MP0003787_abnormal_imprinting	3.89161407
5	MP0005379_endocrine/exocrine_gland_phen	3.14293365
6	MP0005423_abnormal_somatic_nervous	2.90516827
7	MP0002163_abnormal_gland_morphology	2.74769159
8	MP0009780_abnormal_chondrocyte_physiolo	2.34111158
9	MP0006035_abnormal_mitochondrial_morpho	2.33389432
10	MP0003718_maternal_effect	2.28917732
11	MP0000569_abnormal_digit_pigmentation	2.27565379
12	MP0008872_abnormal_physiological_respon	2.27485165
13	MP0004215_abnormal_myocardial_fiber	2.27277241
14	MP0004957_abnormal_blastocyst_morpholog	2.12000517
15	MP0003950_abnormal_plasma_membrane	2.09129965
16	MP0003123_paternal_imprinting	1.92416536
17	MP0001346_abnormal_lacrimal_gland	1.89188726
18	MP0000358_abnormal_cell_content/	1.89176056
19	MP0010094_abnormal_chromosome_stability	1.88031597
20	MP0008875_abnormal_xenobiotic_pharmacok	1.84277008
21	MP0003111_abnormal_nucleus_morphology	1.81799982
22	MP0004019_abnormal_vitamin_homeostasis	1.80994609
23	MP0002876_abnormal_thyroid_physiology	1.78030032
24	MP0003646_muscle_fatigue	1.76928949
25	MP0008057_abnormal_DNA_replication	1.71990132
26	MP0002210_abnormal_sex_determination	1.71350097
27	MP0006036_abnormal_mitochondrial_physio	1.63980471
28	MP0003136_yellow_coat_color	1.50937089
29	MP0003121_genomic_imprinting	1.50824364
30	MP0002909_abnormal_adrenal_gland	1.48112539
31	MP0001929_abnormal_gametogenesis	1.45705913
32	MP0000015_abnormal_ear_pigmentation	1.44846437
33	MP0003890_abnormal_embryonic-extraembry	1.40732385
34	MP0008058_abnormal_DNA_repair	1.37871865
35	MP0005410_abnormal_fertilization	1.36130623
36	MP0003183_abnormal_peptide_metabolism	1.35853512
37	MP0000013_abnormal_adipose_tissue	1.34896133
38	MP0005636_abnormal_mineral_homeostasis	1.33408445
39	MP0002127_abnormal_cardiovascular_syste	1.32870931
40	MP0005058_abnormal_lysosome_morphology	1.24657984
41	MP0000647_abnormal_sebaceous_gland	1.23846196
42	MP0003186_abnormal_redox_activity	1.23686215
43	MP0005645_abnormal_hypothalamus_physiol	1.23003779
44	MP0003077_abnormal_cell_cycle	1.22034421
45	MP0009697_abnormal_copulation	1.17617120
46	MP0003724_increased_susceptibility_to	1.16962940
47	MP0003698_abnormal_male_reproductive	1.16200541
48	MP0000639_abnormal_adrenal_gland	1.14813706
49	MP0005551_abnormal_eye_electrophysiolog	1.12550771
50	MP0000383_abnormal_hair_follicle	1.11993771
51	MP0002332_abnormal_exercise_endurance	1.11254874
52	MP0004381_abnormal_hair_follicle	1.09367236
53	MP0002735_abnormal_chemical_nociception	1.08095451
54	MP0005646_abnormal_pituitary_gland	1.05791042
55	MP0005319_abnormal_enzyme/_coenzyme	1.04965892
56	MP0005464_abnormal_platelet_physiology	1.03621834
57	MP0000462_abnormal_digestive_system	1.02780296
58	MP0002132_abnormal_respiratory_system	0.98499369
59	MP0001756_abnormal_urination	0.97536907
60	MP0000653_abnormal_sex_gland	0.97069423
61	MP0002837_dystrophic_cardiac_calcinosis	0.97033400
62	MP0003806_abnormal_nucleotide_metabolis	0.96532727
63	MP0001529_abnormal_vocalization	0.95453817
64	MP0001145_abnormal_male_reproductive	0.95355299
65	MP0003943_abnormal_hepatobiliary_system	0.95176892
66	MP0000230_abnormal_systemic_arterial	0.93443024
67	MP0003693_abnormal_embryo_hatching	0.89400236
68	MP0009333_abnormal_splenocyte_physiolog	0.89392641
69	MP0009764_decreased_sensitivity_to	0.88763466
70	MP0005167_abnormal_blood-brain_barrier	0.88715460
71	MP0003191_abnormal_cellular_cholesterol	0.87515546
72	MP0000470_abnormal_stomach_morphology	0.86222893
73	MP0008995_early_reproductive_senescence	0.83554294
74	MP0005389_reproductive_system_phenotype	0.83554053
75	MP0005670_abnormal_white_adipose	0.82859685
76	MP0002693_abnormal_pancreas_physiology	0.81582339
77	MP0005174_abnormal_tail_pigmentation	0.79607907
78	MP0001502_abnormal_circadian_rhythm	0.79273738
79	MP0001765_abnormal_ion_homeostasis	0.79141625
80	MP0002733_abnormal_thermal_nociception	0.77422029
81	MP0002160_abnormal_reproductive_system	0.74837015
82	MP0008789_abnormal_olfactory_epithelium	0.74270791
83	MP0003937_abnormal_limbs/digits/tail_de	0.73607978
84	MP0001697_abnormal_embryo_size	0.73314002
85	MP0004134_abnormal_chest_morphology	0.71613791
86	MP0000428_abnormal_craniofacial_morphol	0.68873566
87	MP0006072_abnormal_retinal_apoptosis	0.67555837
88	MP0000427_abnormal_hair_cycle	0.67176382
89	MP0003936_abnormal_reproductive_system	0.66020273
90	MP0010329_abnormal_lipoprotein_level	0.65767403
91	MP0005310_abnormal_salivary_gland	0.65583582
92	MP0001944_abnormal_pancreas_morphology	0.65291472
93	MP0001666_abnormal_nutrient_absorption	0.65288450
94	MP0002233_abnormal_nose_morphology	0.65217091
95	MP0004185_abnormal_adipocyte_glucose	0.65098048
96	MP0001968_abnormal_touch/_nociception	0.63944078
97	MP0004142_abnormal_muscle_tone	0.61956373
98	MP0008932_abnormal_embryonic_tissue	0.60318345
99	MP0003786_premature_aging	0.60044043
100	MP0005365_abnormal_bile_salt	0.58122278

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Chromosomal breakage induced by crosslinking agents (HP:0003221)	4.33054266
2	Abnormality of cochlea (HP:0000375)	3.86083137
3	Microvesicular hepatic steatosis (HP:0001414)	3.82258680
4	Chromsome breakage (HP:0040012)	3.62608896
5	Abnormality of lateral ventricle (HP:0030047)	3.59523793
6	Aplastic anemia (HP:0001915)	3.32921779
7	Cerebral hypomyelination (HP:0006808)	3.24666252
8	Diastasis recti (HP:0001540)	3.15163132
9	Poor speech (HP:0002465)	3.12124835
10	Abnormality of the septum pellucidum (HP:0007375)	3.11112877
11	Absent hand (HP:0004050)	3.09331914
12	Microretrognathia (HP:0000308)	3.06108339
13	Neuroendocrine neoplasm (HP:0100634)	3.00042900
14	Abnormality of midbrain morphology (HP:0002418)	2.90383650
15	Molar tooth sign on MRI (HP:0002419)	2.90383650
16	Absent septum pellucidum (HP:0001331)	2.88470693
17	Carpal bone hypoplasia (HP:0001498)	2.85942873
18	Infertility (HP:0000789)	2.84540993
19	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.83206057
20	Abnormality of alanine metabolism (HP:0010916)	2.83206057
21	Hyperalaninemia (HP:0003348)	2.83206057
22	Dysphonia (HP:0001618)	2.77575508
23	Morphological abnormality of the inner ear (HP:0011390)	2.77363037
24	Hypomagnesemia (HP:0002917)	2.77330717
25	Hyperglycemia (HP:0003074)	2.71807088
26	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.70874760
27	Pancreatic cysts (HP:0001737)	2.70852241
28	Abnormality of the renal collecting system (HP:0004742)	2.68817113
29	Ileus (HP:0002595)	2.68371143
30	Posterior subcapsular cataract (HP:0007787)	2.63394946
31	Tinnitus (HP:0000360)	2.60405565
32	Conical tooth (HP:0000698)	2.53435947
33	Duplicated collecting system (HP:0000081)	2.49942227
34	3-Methylglutaconic aciduria (HP:0003535)	2.49129658
35	True hermaphroditism (HP:0010459)	2.45127136
36	Neoplasm of the peripheral nervous system (HP:0100007)	2.41175310
37	Abnormality of magnesium homeostasis (HP:0004921)	2.40432409
38	CNS hypomyelination (HP:0003429)	2.39499781
39	Pheochromocytoma (HP:0002666)	2.34808899
40	Pendular nystagmus (HP:0012043)	2.32498084
41	Ureteral duplication (HP:0000073)	2.31028510
42	Spontaneous abortion (HP:0005268)	2.25988239
43	Abnormality of pyrimidine metabolism (HP:0004353)	2.25908906
44	Constricted visual fields (HP:0001133)	2.22456837
45	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.18117758
46	Abnormality of the labia minora (HP:0012880)	2.15835796
47	Supernumerary ribs (HP:0005815)	2.14546689
48	Abnormality of the pons (HP:0007361)	2.13497643
49	Supernumerary bones of the axial skeleton (HP:0009144)	2.13267692
50	Hypoplastic iliac wings (HP:0002866)	2.12195869
51	Short middle phalanx of the 5th finger (HP:0004220)	2.11868342
52	Prolonged bleeding time (HP:0003010)	2.11259577
53	Abnormality of the ileum (HP:0001549)	2.09944943
54	Male infertility (HP:0003251)	2.09937458
55	Dyskinesia (HP:0100660)	2.09006926
56	Facial cleft (HP:0002006)	2.08373239
57	Hypokalemic alkalosis (HP:0001949)	2.05019877
58	Birth length less than 3rd percentile (HP:0003561)	2.04917045
59	Nephroblastoma (Wilms tumor) (HP:0002667)	2.03804109
60	Spondylolisthesis (HP:0003302)	2.03559448
61	Eosinophilia (HP:0001880)	2.02054179
62	Meckel diverticulum (HP:0002245)	1.98521341
63	Paralysis (HP:0003470)	1.97024516
64	Stenosis of the external auditory canal (HP:0000402)	1.96548894
65	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.94767615
66	Metaphyseal irregularity (HP:0003025)	1.89915989
67	Breast hypoplasia (HP:0003187)	1.89583745
68	Patent foramen ovale (HP:0001655)	1.89542409
69	Hypergonadotropic hypogonadism (HP:0000815)	1.88729155
70	Ketosis (HP:0001946)	1.88310305
71	Abnormality of dental color (HP:0011073)	1.87932315
72	Aplasia/hypoplasia of the uterus (HP:0008684)	1.87309958
73	Concave nail (HP:0001598)	1.86476307
74	Limb dystonia (HP:0002451)	1.86464943
75	Abnormal spermatogenesis (HP:0008669)	1.86379974
76	Embryonal renal neoplasm (HP:0011794)	1.85812164
77	Hypoplasia of the pons (HP:0012110)	1.85769778
78	Bony spicule pigmentary retinopathy (HP:0007737)	1.84667748
79	Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)	1.84384292
80	Clubbing of toes (HP:0100760)	1.84109580
81	Cerebellar dysplasia (HP:0007033)	1.82686197
82	Vacuolated lymphocytes (HP:0001922)	1.82239872
83	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.81916626
84	Attenuation of retinal blood vessels (HP:0007843)	1.80204046
85	Spastic paraparesis (HP:0002313)	1.79854534
86	Patellar aplasia (HP:0006443)	1.79526358
87	Abnormality of the preputium (HP:0100587)	1.76603109
88	Ketoacidosis (HP:0001993)	1.76536644
89	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.76291342
90	Hypoplasia of the fovea (HP:0007750)	1.76291342
91	Fair hair (HP:0002286)	1.76097300
92	Increased serum lactate (HP:0002151)	1.75784313
93	Increased IgM level (HP:0003496)	1.75784255
94	Azoospermia (HP:0000027)	1.73631552
95	Chronic otitis media (HP:0000389)	1.73615813
96	Acanthocytosis (HP:0001927)	1.71836358
97	Absent radius (HP:0003974)	1.71556657
98	Abnormal rod and cone electroretinograms (HP:0008323)	1.71321267
99	Increased number of teeth (HP:0011069)	1.70834761
100	Dyschromatopsia (HP:0007641)	1.70517838

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK38L	6.37903953
2	PDK2	4.31804891
3	PBK	4.22466950
4	MST4	3.62295700
5	SRPK1	3.44298356
6	EIF2AK1	3.26569275
7	FRK	3.21498789
8	STK38	2.71271536
9	WNK4	2.45671193
10	STK39	2.40647803
11	BRSK2	2.30727133
12	BLK	2.19344763
13	PINK1	2.14343781
14	STK16	2.05684070
15	BUB1	2.00783463
16	STK4	1.86359805
17	WNK1	1.78827962
18	BMX	1.63682905
19	NEK6	1.60181627
20	PIK3CG	1.54630115
21	BRSK1	1.53339152
22	NUAK1	1.42227447
23	OXSR1	1.39401954
24	CDK19	1.38079739
25	MARK3	1.35380631
26	MAP4K2	1.30980872
27	NEK1	1.24602647
28	TRIM28	1.21046490
29	TAOK3	1.10025199
30	LMTK2	1.05491548
31	TNK2	0.97158443
32	MKNK1	0.95240532
33	EPHA4	0.85934222
34	PKN1	0.82656621
35	AKT3	0.76239027
36	MKNK2	0.75846231
37	TEC	0.74477260
38	MAP3K12	0.73727359
39	CHEK2	0.67245613
40	PTK2B	0.66974159
41	MAPK11	0.66798399
42	PHKG1	0.65917007
43	PHKG2	0.65917007
44	PIK3CA	0.64681996
45	MAP3K5	0.63846632
46	STK3	0.63189882
47	PRKD2	0.62812666
48	MUSK	0.61946494
49	PRKG1	0.60367894
50	NTRK3	0.59285540
51	FGFR2	0.58311588
52	EIF2AK3	0.57548781
53	IKBKB	0.57423749
54	PRKCI	0.55967071
55	BTK	0.54594494
56	PLK1	0.53012423
57	MAPKAPK2	0.52514570
58	STK10	0.51708424
59	MAP2K3	0.49345416
60	CSF1R	0.48816243
61	CDC7	0.47479899
62	JAK3	0.47233743
63	GRK1	0.47115512
64	CHEK1	0.46466708
65	PLK3	0.45606908
66	AURKA	0.43945153
67	ZAP70	0.42745603
68	PRKCE	0.42217590
69	CSNK1A1	0.41936294
70	MAP3K1	0.40644092
71	DYRK3	0.40127638
72	ADRBK2	0.39770777
73	PRKG2	0.38477492
74	FGR	0.38338790
75	CSNK2A1	0.36709246
76	SYK	0.34482348
77	RPS6KA5	0.34004095
78	ABL1	0.30854604
79	PRKACA	0.30392268
80	PRKD1	0.30182285
81	PIM2	0.28440243
82	OBSCN	0.27683872
83	PAK6	0.26194801
84	MAP2K6	0.25882960
85	PRKAA1	0.25863536
86	PAK3	0.25499696
87	CDK2	0.25370959
88	MAP2K4	0.25190939
89	ZAK	0.24689085
90	CSNK1E	0.24333669
91	PRKACB	0.23405877
92	INSRR	0.23369786
93	WNK3	0.23288774
94	CAMK4	0.23246472
95	PAK1	0.22890000
96	ADRBK1	0.22365363
97	BCR	0.21820622
98	MAPK14	0.21747824
99	PLK2	0.19626725
100	HCK	0.19547138

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Regulation of autophagy_Homo sapiens_hsa04140	3.80187612
2	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	3.78961210
3	RNA polymerase_Homo sapiens_hsa03020	3.35000550
4	Basal transcription factors_Homo sapiens_hsa03022	2.76466227
5	Sulfur metabolism_Homo sapiens_hsa00920	2.74832345
6	Ribosome_Homo sapiens_hsa03010	2.69769158
7	Homologous recombination_Homo sapiens_hsa03440	2.55546099
8	DNA replication_Homo sapiens_hsa03030	2.50394537
9	Folate biosynthesis_Homo sapiens_hsa00790	2.43894275
10	Selenocompound metabolism_Homo sapiens_hsa00450	2.41040941
11	Fanconi anemia pathway_Homo sapiens_hsa03460	2.36748048
12	Phototransduction_Homo sapiens_hsa04744	2.11886682
13	Nitrogen metabolism_Homo sapiens_hsa00910	1.95250529
14	Protein export_Homo sapiens_hsa03060	1.93518833
15	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.76571802
16	Tryptophan metabolism_Homo sapiens_hsa00380	1.74154847
17	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.68854974
18	Circadian rhythm_Homo sapiens_hsa04710	1.63362572
19	RNA transport_Homo sapiens_hsa03013	1.63284860
20	Sulfur relay system_Homo sapiens_hsa04122	1.57180518
21	Olfactory transduction_Homo sapiens_hsa04740	1.55781430
22	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.55224998
23	Retinol metabolism_Homo sapiens_hsa00830	1.50147223
24	Butanoate metabolism_Homo sapiens_hsa00650	1.49842211
25	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.47446732
26	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.42440093
27	Huntingtons disease_Homo sapiens_hsa05016	1.42287559
28	Proteasome_Homo sapiens_hsa03050	1.40213968
29	Ether lipid metabolism_Homo sapiens_hsa00565	1.35706414
30	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.35175040
31	Parkinsons disease_Homo sapiens_hsa05012	1.30665755
32	Glycerophospholipid metabolism_Homo sapiens_hsa00564	1.30133285
33	Pyrimidine metabolism_Homo sapiens_hsa00240	1.29016007
34	Linoleic acid metabolism_Homo sapiens_hsa00591	1.27426010
35	Peroxisome_Homo sapiens_hsa04146	1.27038310
36	One carbon pool by folate_Homo sapiens_hsa00670	1.24538322
37	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.17676822
38	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.16556574
39	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.15744823
40	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.10211681
41	Non-homologous end-joining_Homo sapiens_hsa03450	1.09822768
42	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.08897581
43	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.03353673
44	Oxidative phosphorylation_Homo sapiens_hsa00190	1.02319752
45	RNA degradation_Homo sapiens_hsa03018	1.00348877
46	Cardiac muscle contraction_Homo sapiens_hsa04260	0.96342209
47	Purine metabolism_Homo sapiens_hsa00230	0.94729058
48	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.94073133
49	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.93332044
50	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.93153078
51	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.92988239
52	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.90618290
53	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.89791367
54	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.86357455
55	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.85629817
56	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.85211469
57	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.84195949
58	beta-Alanine metabolism_Homo sapiens_hsa00410	0.80000664
59	Glycerolipid metabolism_Homo sapiens_hsa00561	0.79486170
60	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.77981527
61	mRNA surveillance pathway_Homo sapiens_hsa03015	0.77101578
62	Lysine degradation_Homo sapiens_hsa00310	0.76627409
63	Histidine metabolism_Homo sapiens_hsa00340	0.75628819
64	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.72300293
65	Fatty acid elongation_Homo sapiens_hsa00062	0.66382116
66	Taste transduction_Homo sapiens_hsa04742	0.65710866
67	Metabolic pathways_Homo sapiens_hsa01100	0.63771797
68	Spliceosome_Homo sapiens_hsa03040	0.60864917
69	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.59594810
70	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.57409507
71	Chemical carcinogenesis_Homo sapiens_hsa05204	0.56860299
72	Caffeine metabolism_Homo sapiens_hsa00232	0.55608525
73	Mismatch repair_Homo sapiens_hsa03430	0.54057616
74	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.51659135
75	Circadian entrainment_Homo sapiens_hsa04713	0.50760818
76	PPAR signaling pathway_Homo sapiens_hsa03320	0.49283590
77	ABC transporters_Homo sapiens_hsa02010	0.48932370
78	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.48395320
79	Propanoate metabolism_Homo sapiens_hsa00640	0.43657337
80	Cell cycle_Homo sapiens_hsa04110	0.42654257
81	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.41167166
82	Mineral absorption_Homo sapiens_hsa04978	0.40201896
83	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.39843083
84	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.39338011
85	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.35336321
86	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.34877605
87	p53 signaling pathway_Homo sapiens_hsa04115	0.34855014
88	Renin-angiotensin system_Homo sapiens_hsa04614	0.32898632
89	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.31873230
90	Oocyte meiosis_Homo sapiens_hsa04114	0.31739595
91	Fatty acid metabolism_Homo sapiens_hsa01212	0.31567965
92	Collecting duct acid secretion_Homo sapiens_hsa04966	0.30410750
93	Pyruvate metabolism_Homo sapiens_hsa00620	0.28296984
94	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.22919299
95	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.21655038
96	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.20728900
97	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.20278467
98	Shigellosis_Homo sapiens_hsa05131	0.18730355
99	Base excision repair_Homo sapiens_hsa03410	0.18190716
100	ECM-receptor interaction_Homo sapiens_hsa04512	0.17785847

DEFB122

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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