ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	tongue development (GO:0043586)	6.78304215
2	potassium ion export (GO:0071435)	6.07186258
3	epithelial cilium movement (GO:0003351)	5.95464412
4	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	5.79809608
5	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	5.53863007
6	cilium movement (GO:0003341)	5.24291509
7	membrane repolarization during action potential (GO:0086011)	5.09140377
8	coenzyme catabolic process (GO:0009109)	5.00736085
9	axonemal dynein complex assembly (GO:0070286)	4.75569923
10	cGMP-mediated signaling (GO:0019934)	4.63125636
11	motile cilium assembly (GO:0044458)	4.62267005
12	acrosome reaction (GO:0007340)	4.61495943
13	regulation of autophagic vacuole assembly (GO:2000785)	4.59363500
14	positive regulation of catecholamine secretion (GO:0033605)	4.52315818
15	membrane repolarization (GO:0086009)	4.51866014
16	pyrimidine nucleobase catabolic process (GO:0006208)	4.44238441
17	potassium ion import (GO:0010107)	4.30384148
18	activation of protein kinase B activity (GO:0032148)	4.29700620
19	regulation of vacuole organization (GO:0044088)	4.27251492
20	radial glial cell differentiation (GO:0060019)	4.18782567
21	regulation of phosphoprotein phosphatase activity (GO:0043666)	4.16899200
22	cilium or flagellum-dependent cell motility (GO:0001539)	4.10579990
23	intraciliary transport (GO:0042073)	4.07551886
24	regulation of oxidative stress-induced neuron death (GO:1903203)	4.04741672
25	relaxation of smooth muscle (GO:0044557)	4.03913502
26	spermatid development (GO:0007286)	3.96198362
27	male meiosis (GO:0007140)	3.82891579
28	multicellular organism reproduction (GO:0032504)	3.81230126
29	sperm motility (GO:0030317)	3.62614452
30	axon extension involved in axon guidance (GO:0048846)	3.61404205
31	neuron projection extension involved in neuron projection guidance (GO:1902284)	3.61404205
32	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	3.60182613
33	hormone catabolic process (GO:0042447)	3.58829403
34	presynaptic membrane assembly (GO:0097105)	3.58796878
35	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	3.54955281
36	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	3.54153274
37	mRNA cleavage (GO:0006379)	3.52198173
38	negative regulation of multicellular organism growth (GO:0040015)	3.49448613
39	phenol-containing compound catabolic process (GO:0019336)	3.47032999
40	negative regulation of oligodendrocyte differentiation (GO:0048715)	3.45385479
41	cilium morphogenesis (GO:0060271)	3.43003291
42	axoneme assembly (GO:0035082)	3.40931099
43	negative regulation of DNA binding (GO:0043392)	3.40777117
44	nucleobase catabolic process (GO:0046113)	3.38922021
45	oligosaccharide biosynthetic process (GO:0009312)	3.36895454
46	regulation of phospholipase A2 activity (GO:0032429)	3.36333798
47	ventricular system development (GO:0021591)	3.31315666
48	smoothened signaling pathway (GO:0007224)	3.30598768
49	organic cation transport (GO:0015695)	3.29760304
50	neuron fate determination (GO:0048664)	3.26460777
51	postsynaptic membrane organization (GO:0001941)	3.22605721
52	gamma-aminobutyric acid transport (GO:0015812)	3.19728312
53	limb bud formation (GO:0060174)	3.18020065
54	diacylglycerol metabolic process (GO:0046339)	3.16902056
55	binding of sperm to zona pellucida (GO:0007339)	3.12921165
56	negative regulation of telomere maintenance (GO:0032205)	3.05053130
57	presynaptic membrane organization (GO:0097090)	3.02511431
58	mitochondrion degradation (GO:0000422)	3.01331013
59	cilium organization (GO:0044782)	2.99741444
60	regulation of hydrogen peroxide-induced cell death (GO:1903205)	2.97985430
61	neuron cell-cell adhesion (GO:0007158)	2.97553360
62	single fertilization (GO:0007338)	2.96536947
63	cilium assembly (GO:0042384)	2.93727352
64	regulation of secondary heart field cardioblast proliferation (GO:0003266)	2.86792242
65	regulation of cardioblast proliferation (GO:0003264)	2.86792242
66	sulfation (GO:0051923)	2.86757266
67	otic vesicle formation (GO:0030916)	2.85851777
68	behavioral response to nicotine (GO:0035095)	2.84830389
69	regulation of feeding behavior (GO:0060259)	2.82405015
70	glutamine family amino acid catabolic process (GO:0009065)	2.80625259
71	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	2.79441911
72	negative regulation of stem cell proliferation (GO:2000647)	2.77085437
73	regulation of hydrogen peroxide metabolic process (GO:0010310)	2.68848373
74	regulation of membrane repolarization (GO:0060306)	2.66811758
75	mesenchymal-epithelial cell signaling (GO:0060638)	2.62807368
76	somite development (GO:0061053)	2.62054265
77	positive regulation of protein kinase C signaling (GO:0090037)	2.61884616
78	axon ensheathment in central nervous system (GO:0032291)	2.61372089
79	central nervous system myelination (GO:0022010)	2.61372089
80	sex differentiation (GO:0007548)	2.60601635
81	ADP metabolic process (GO:0046031)	2.57482302
82	negative regulation of epidermal cell differentiation (GO:0045605)	2.56196311
83	telencephalon development (GO:0021537)	2.55204711
84	thyroid gland development (GO:0030878)	2.54449938
85	serine family amino acid catabolic process (GO:0009071)	2.53911098
86	synapsis (GO:0007129)	2.53741186
87	regulation of acyl-CoA biosynthetic process (GO:0050812)	2.53491732
88	response to nitrosative stress (GO:0051409)	2.52391154
89	vocalization behavior (GO:0071625)	2.52162466
90	DNA double-strand break processing (GO:0000729)	2.51714390
91	neuronal stem cell maintenance (GO:0097150)	2.51550597
92	negative regulation of striated muscle cell apoptotic process (GO:0010664)	2.50823172
93	sperm-egg recognition (GO:0035036)	2.49776096
94	reproduction (GO:0000003)	2.49491031
95	regulation of dopamine secretion (GO:0014059)	2.48310364
96	regulation of potassium ion transmembrane transport (GO:1901379)	2.47536699
97	neural crest cell development (GO:0014032)	2.47526058
98	cochlea development (GO:0090102)	2.46361624
99	paraxial mesoderm development (GO:0048339)	2.46324401
100	cellular modified amino acid catabolic process (GO:0042219)	2.46299557

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	6.86018218
2	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	4.58924043
3	IGF1R_20145208_ChIP-Seq_DFB_Human	4.25415381
4	GBX2_23144817_ChIP-Seq_PC3_Human	4.05403643
5	BP1_19119308_ChIP-ChIP_Hs578T_Human	3.89455635
6	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.47935583
7	EZH2_22144423_ChIP-Seq_EOC_Human	3.44363737
8	ZNF274_21170338_ChIP-Seq_K562_Hela	2.67664771
9	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.57334757
10	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.56224882
11	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.50430779
12	AR_21572438_ChIP-Seq_LNCaP_Human	2.43610879
13	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.35772341
14	VDR_22108803_ChIP-Seq_LS180_Human	2.23420348
15	FUS_26573619_Chip-Seq_HEK293_Human	2.22362167
16	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.05319928
17	P300_19829295_ChIP-Seq_ESCs_Human	2.03296444
18	ER_23166858_ChIP-Seq_MCF-7_Human	1.88030822
19	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.70972720
20	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.70972720
21	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.60160556
22	SMAD4_21799915_ChIP-Seq_A2780_Human	1.59218160
23	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.58619080
24	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.57313187
25	RXR_22108803_ChIP-Seq_LS180_Human	1.54997464
26	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.53792463
27	CBP_20019798_ChIP-Seq_JUKART_Human	1.53595565
28	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.53595565
29	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.52859765
30	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.47211138
31	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.44670863
32	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.44630065
33	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.43801470
34	EWS_26573619_Chip-Seq_HEK293_Human	1.43780869
35	RUNX2_22187159_ChIP-Seq_PCA_Human	1.41666916
36	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.40980203
37	BCAT_22108803_ChIP-Seq_LS180_Human	1.37865557
38	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.37683809
39	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.37567161
40	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.34684572
41	AR_25329375_ChIP-Seq_VCAP_Human	1.33917130
42	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.33792055
43	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.33745435
44	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.33283166
45	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.32681754
46	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.32137164
47	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.29644769
48	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.28127371
49	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.27969875
50	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.25233594
51	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.23963116
52	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.23945764
53	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.23776167
54	STAT3_23295773_ChIP-Seq_U87_Human	1.21713524
55	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.20673833
56	TP53_18474530_ChIP-ChIP_U2OS_Human	1.19936110
57	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.18297614
58	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.17616742
59	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.15742238
60	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.14662423
61	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.14542113
62	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.13652363
63	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.13330724
64	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.12702910
65	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.12702910
66	TCF4_23295773_ChIP-Seq_U87_Human	1.12519154
67	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.12107061
68	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.11887357
69	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.11359284
70	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.10417664
71	AHR_22903824_ChIP-Seq_MCF-7_Human	1.10177795
72	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.09948987
73	NANOG_20526341_ChIP-Seq_ESCs_Human	1.09672636
74	TCF4_22108803_ChIP-Seq_LS180_Human	1.08855168
75	TBL1_22424771_ChIP-Seq_293T_Human	1.08550076
76	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.07577665
77	ERA_21632823_ChIP-Seq_H3396_Human	1.07471085
78	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.07206529
79	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.06895420
80	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.06859389
81	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.06644933
82	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.05682006
83	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.05229933
84	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.03773018
85	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.01927466
86	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.01175298
87	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.00890042
88	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	0.99629169
89	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.98936616
90	SOX2_19030024_ChIP-ChIP_MESCs_Mouse	0.98933623
91	CBP_21632823_ChIP-Seq_H3396_Human	0.97833902
92	E2F1_17053090_ChIP-ChIP_MCF-7_Human	0.97831854
93	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.96690111
94	REST_21632747_ChIP-Seq_MESCs_Mouse	0.95825037
95	RNF2_27304074_Chip-Seq_NSC_Mouse	0.93867597
96	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	0.92373185
97	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.92293384
98	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	0.91633207
99	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.91531687
100	RAC3_21632823_ChIP-Seq_H3396_Human	0.90731545

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008004_abnormal_stomach_pH	5.55354970
2	MP0003136_yellow_coat_color	4.43859231
3	MP0002653_abnormal_ependyma_morphology	4.18901564
4	MP0003122_maternal_imprinting	4.12681546
5	MP0001984_abnormal_olfaction	3.77077470
6	MP0002928_abnormal_bile_duct	2.79937292
7	MP0003315_abnormal_perineum_morphology	2.73844100
8	MP0005410_abnormal_fertilization	2.56852941
9	MP0002102_abnormal_ear_morphology	2.49984828
10	MP0002638_abnormal_pupillary_reflex	2.48759185
11	MP0005394_taste/olfaction_phenotype	2.13768130
12	MP0005499_abnormal_olfactory_system	2.13768130
13	MP0006072_abnormal_retinal_apoptosis	1.98518847
14	MP0005084_abnormal_gallbladder_morpholo	1.94682806
15	MP0002132_abnormal_respiratory_system	1.90500085
16	MP0001270_distended_abdomen	1.89152142
17	MP0000049_abnormal_middle_ear	1.84527620
18	MP0004272_abnormal_basement_membrane	1.78094540
19	MP0005253_abnormal_eye_physiology	1.77086400
20	MP0002160_abnormal_reproductive_system	1.73414094
21	MP0008789_abnormal_olfactory_epithelium	1.63000777
22	MP0010386_abnormal_urinary_bladder	1.62204258
23	MP0001664_abnormal_digestion	1.60740421
24	MP0004859_abnormal_synaptic_plasticity	1.58806501
25	MP0001529_abnormal_vocalization	1.57875809
26	MP0002233_abnormal_nose_morphology	1.47888719
27	MP0002249_abnormal_larynx_morphology	1.46095473
28	MP0004858_abnormal_nervous_system	1.45774908
29	MP0010368_abnormal_lymphatic_system	1.44204790
30	MP0005248_abnormal_Harderian_gland	1.43410077
31	MP0001968_abnormal_touch/_nociception	1.41789180
32	MP0004133_heterotaxia	1.39544557
33	MP0003698_abnormal_male_reproductive	1.38665215
34	MP0002736_abnormal_nociception_after	1.36111728
35	MP0004084_abnormal_cardiac_muscle	1.33103724
36	MP0003938_abnormal_ear_development	1.31903779
37	MP0003880_abnormal_central_pattern	1.30373223
38	MP0003121_genomic_imprinting	1.25562270
39	MP0001929_abnormal_gametogenesis	1.23796273
40	MP0005423_abnormal_somatic_nervous	1.22118272
41	MP0001188_hyperpigmentation	1.22104672
42	MP0002127_abnormal_cardiovascular_syste	1.21549007
43	MP0000778_abnormal_nervous_system	1.20199627
44	MP0001502_abnormal_circadian_rhythm	1.19736011
45	MP0009046_muscle_twitch	1.19019955
46	MP0006276_abnormal_autonomic_nervous	1.18701447
47	MP0010030_abnormal_orbit_morphology	1.18583581
48	MP0001501_abnormal_sleep_pattern	1.16935264
49	MP0005187_abnormal_penis_morphology	1.15457512
50	MP0000631_abnormal_neuroendocrine_gland	1.14395527
51	MP0002272_abnormal_nervous_system	1.12620968
52	MP0009697_abnormal_copulation	1.12106808
53	MP0002234_abnormal_pharynx_morphology	1.10386875
54	MP0003635_abnormal_synaptic_transmissio	1.10302995
55	MP0000026_abnormal_inner_ear	1.08446491
56	MP0005646_abnormal_pituitary_gland	1.07445703
57	MP0005551_abnormal_eye_electrophysiolog	1.06808595
58	MP0000537_abnormal_urethra_morphology	1.06344059
59	MP0005391_vision/eye_phenotype	1.04840146
60	MP0002752_abnormal_somatic_nervous	1.00625272
61	MP0003755_abnormal_palate_morphology	0.99082788
62	MP0001486_abnormal_startle_reflex	0.97781177
63	MP0003385_abnormal_body_wall	0.96890229
64	MP0009250_abnormal_appendicular_skeleto	0.96071573
65	MP0005595_abnormal_vascular_smooth	0.94420338
66	MP0002572_abnormal_emotion/affect_behav	0.94214206
67	MP0009745_abnormal_behavioral_response	0.90937472
68	MP0001756_abnormal_urination	0.89449857
69	MP0008995_early_reproductive_senescence	0.88668769
70	MP0004043_abnormal_pH_regulation	0.88637108
71	MP0002210_abnormal_sex_determination	0.87636141
72	MP0003632_abnormal_nervous_system	0.87572383
73	MP0002064_seizures	0.85314646
74	MP0000538_abnormal_urinary_bladder	0.84688141
75	MP0001970_abnormal_pain_threshold	0.84320636
76	MP0001286_abnormal_eye_development	0.84271508
77	MP0000750_abnormal_muscle_regeneration	0.84165660
78	MP0002282_abnormal_trachea_morphology	0.84031318
79	MP0006292_abnormal_olfactory_placode	0.83615918
80	MP0004215_abnormal_myocardial_fiber	0.83150388
81	MP0001963_abnormal_hearing_physiology	0.81467393
82	MP0001905_abnormal_dopamine_level	0.80427060
83	MP0002184_abnormal_innervation	0.79219930
84	MP0005389_reproductive_system_phenotype	0.77726232
85	MP0001145_abnormal_male_reproductive	0.76818612
86	MP0003937_abnormal_limbs/digits/tail_de	0.76480513
87	MP0002735_abnormal_chemical_nociception	0.75565713
88	MP0003890_abnormal_embryonic-extraembry	0.74795490
89	MP0002882_abnormal_neuron_morphology	0.74724552
90	MP0002063_abnormal_learning/memory/cond	0.74682354
91	MP0005195_abnormal_posterior_eye	0.74120315
92	MP0002116_abnormal_craniofacial_bone	0.73526907
93	MP0000955_abnormal_spinal_cord	0.73481328
94	MP0004811_abnormal_neuron_physiology	0.72468616
95	MP0001485_abnormal_pinna_reflex	0.70751096
96	MP0003633_abnormal_nervous_system	0.70578298
97	MP0002108_abnormal_muscle_morphology	0.69764015
98	MP0002734_abnormal_mechanical_nocicepti	0.69402548
99	MP0004264_abnormal_extraembryonic_tissu	0.68025342
100	MP0005620_abnormal_muscle_contractility	0.67444964

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Cerebellar dysplasia (HP:0007033)	5.59755269
2	Type II lissencephaly (HP:0007260)	5.46513715
3	Abnormal ciliary motility (HP:0012262)	5.05441426
4	Retinal dysplasia (HP:0007973)	4.82287438
5	Pancreatic fibrosis (HP:0100732)	4.49176944
6	Abnormal respiratory motile cilium physiology (HP:0012261)	4.40736254
7	True hermaphroditism (HP:0010459)	4.34428337
8	Pancreatic cysts (HP:0001737)	4.26532490
9	Abnormal respiratory motile cilium morphology (HP:0005938)	4.12376530
10	Abnormal respiratory epithelium morphology (HP:0012253)	4.12376530
11	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	4.02317645
12	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.99879709
13	Absent/shortened dynein arms (HP:0200106)	3.99879709
14	Abnormality of the columella (HP:0009929)	3.75621005
15	Ventricular fibrillation (HP:0001663)	3.72974834
16	Cystic liver disease (HP:0006706)	3.54817673
17	Occipital encephalocele (HP:0002085)	3.45153496
18	Abnormal biliary tract physiology (HP:0012439)	3.32139893
19	Bile duct proliferation (HP:0001408)	3.32139893
20	Facial hemangioma (HP:0000329)	3.30336646
21	Male pseudohermaphroditism (HP:0000037)	3.23093224
22	Molar tooth sign on MRI (HP:0002419)	3.03819758
23	Abnormality of midbrain morphology (HP:0002418)	3.03819758
24	Reduced antithrombin III activity (HP:0001976)	2.98917949
25	Rhinitis (HP:0012384)	2.93678679
26	Resting tremor (HP:0002322)	2.91033401
27	Retinal atrophy (HP:0001105)	2.90864404
28	Renal dysplasia (HP:0000110)	2.85721712
29	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.77389590
30	Aplasia/hypoplasia of the uterus (HP:0008684)	2.74294912
31	Hypoplasia of the uterus (HP:0000013)	2.73334000
32	Aortic aneurysm (HP:0004942)	2.64186965
33	Abnormal drinking behavior (HP:0030082)	2.61741305
34	Polydipsia (HP:0001959)	2.61741305
35	Median cleft lip (HP:0000161)	2.58571975
36	Tubular atrophy (HP:0000092)	2.58459209
37	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.57572927
38	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	2.54060638
39	Increased circulating renin level (HP:0000848)	2.53911704
40	Abnormal sex determination (HP:0012244)	2.52524057
41	Sex reversal (HP:0012245)	2.52524057
42	Anterior segment dysgenesis (HP:0007700)	2.46894723
43	Polyuria (HP:0000103)	2.37914923
44	Abnormality of DNA repair (HP:0003254)	2.37209362
45	Abnormal rod and cone electroretinograms (HP:0008323)	2.36997904
46	Syncope (HP:0001279)	2.36328326
47	Sclerocornea (HP:0000647)	2.35907934
48	Vitreoretinal degeneration (HP:0000655)	2.34832233
49	Poor coordination (HP:0002370)	2.34327546
50	Abnormality of the renal medulla (HP:0100957)	2.34239207
51	High anterior hairline (HP:0009890)	2.32367065
52	Nephrogenic diabetes insipidus (HP:0009806)	2.31748535
53	Postaxial hand polydactyly (HP:0001162)	2.30628553
54	Nephronophthisis (HP:0000090)	2.28750500
55	Medial flaring of the eyebrow (HP:0010747)	2.27576807
56	Chronic sinusitis (HP:0011109)	2.27360343
57	Gastrointestinal atresia (HP:0002589)	2.26386477
58	Congenital primary aphakia (HP:0007707)	2.24702739
59	Gait imbalance (HP:0002141)	2.23754653
60	Chronic hepatic failure (HP:0100626)	2.22069090
61	Exercise-induced muscle cramps (HP:0003710)	2.20414939
62	Abnormality of the frontal sinuses (HP:0002687)	2.19772815
63	Broad alveolar ridges (HP:0000187)	2.19599758
64	Atonic seizures (HP:0010819)	2.18754942
65	Lissencephaly (HP:0001339)	2.17394431
66	Postaxial foot polydactyly (HP:0001830)	2.16609993
67	Anencephaly (HP:0002323)	2.13854847
68	Gonadal dysgenesis (HP:0000133)	2.08132063
69	Metabolic alkalosis (HP:0200114)	2.07787271
70	Thyroid-stimulating hormone excess (HP:0002925)	2.06662895
71	Abnormality of the aortic arch (HP:0012303)	2.02799724
72	Abnormality of the vitreous humor (HP:0004327)	2.02067485
73	Thoracic kyphosis (HP:0002942)	2.01690466
74	Abnormality of the ileum (HP:0001549)	2.01582530
75	Hypothermia (HP:0002045)	1.97829663
76	Absent speech (HP:0001344)	1.97015765
77	Preaxial foot polydactyly (HP:0001841)	1.94454429
78	Capillary hemangiomas (HP:0005306)	1.94217139
79	Genital tract atresia (HP:0001827)	1.92577290
80	Aplasia/Hypoplasia involving the sinuses (HP:0009120)	1.92321152
81	Anophthalmia (HP:0000528)	1.91923619
82	Abnormal urine output (HP:0012590)	1.91151681
83	Hyperglycinemia (HP:0002154)	1.91118419
84	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.90624212
85	Optic nerve hypoplasia (HP:0000609)	1.89591875
86	Infertility (HP:0000789)	1.89003289
87	Buphthalmos (HP:0000557)	1.85235704
88	Prolonged QT interval (HP:0001657)	1.84838690
89	Pachygyria (HP:0001302)	1.81541429
90	Vaginal atresia (HP:0000148)	1.81137314
91	Esophageal atresia (HP:0002032)	1.80569752
92	Spinal rigidity (HP:0003306)	1.80565218
93	Hyperactive renin-angiotensin system (HP:0000841)	1.79340683
94	Tubulointerstitial nephritis (HP:0001970)	1.77546528
95	Thoracolumbar scoliosis (HP:0002944)	1.76763709
96	Intestinal atresia (HP:0011100)	1.76676337
97	Postural instability (HP:0002172)	1.75578174
98	Sensory axonal neuropathy (HP:0003390)	1.74761389
99	Congenital hepatic fibrosis (HP:0002612)	1.73655341
100	Hypokalemic alkalosis (HP:0001949)	1.72995014

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PINK1	7.17277391
2	MAPK15	6.31544253
3	STK38L	3.57312321
4	MARK3	3.23514117
5	ERN1	3.21483834
6	NEK2	3.20227373
7	LATS1	2.71703736
8	MYLK	2.56982602
9	WNK3	2.47011849
10	MAP2K7	2.34214059
11	CDK3	2.33388315
12	ZAK	2.01186900
13	VRK1	1.85771917
14	PNCK	1.67884269
15	SGK223	1.44577461
16	SGK494	1.44577461
17	TIE1	1.42612109
18	CDK19	1.37368707
19	LATS2	1.33524090
20	STK38	1.33083236
21	DYRK2	1.31027162
22	FRK	1.29704850
23	TRIM28	1.27523321
24	BMPR1B	1.26689119
25	EPHB2	1.26550231
26	MAP3K4	1.25847139
27	DYRK3	1.18994459
28	OBSCN	1.16343138
29	CSNK1G2	1.08935078
30	AKT3	1.08128827
31	CSNK1A1L	1.07253458
32	SGK2	1.05109402
33	MAP3K13	1.03750037
34	RPS6KA4	1.01934596
35	CASK	1.00849743
36	CSNK1G3	1.00824846
37	RPS6KA5	0.94029063
38	WEE1	0.93598589
39	TLK1	0.93401062
40	MARK1	0.93394914
41	FGFR2	0.90223037
42	NTRK2	0.89024728
43	CDK14	0.87302061
44	MAP3K7	0.81603761
45	PAK2	0.80500308
46	CSNK1G1	0.79422197
47	MAPKAPK3	0.71162357
48	OXSR1	0.70769042
49	MAPK13	0.69439238
50	FGR	0.67461615
51	BCR	0.66716757
52	GRK1	0.65869004
53	NTRK3	0.65638162
54	DAPK3	0.63041021
55	CAMK1	0.59679560
56	INSRR	0.54714011
57	TGFBR1	0.52608229
58	MOS	0.51498821
59	RET	0.47904103
60	CDK5	0.47058864
61	MAP3K2	0.46461655
62	CDK11A	0.46437553
63	CDK18	0.46353612
64	CDK15	0.45866855
65	RPS6KB1	0.45137322
66	ADRBK2	0.44307516
67	EIF2AK3	0.43967384
68	PTK2B	0.42564087
69	SGK3	0.42436650
70	SRPK1	0.40794958
71	EGFR	0.40751151
72	CDC42BPA	0.37971290
73	PRKCQ	0.37418890
74	MINK1	0.35306973
75	AKT2	0.34657921
76	PIK3CA	0.33916192
77	PDK2	0.32483302
78	MARK2	0.32314841
79	IRAK2	0.31341511
80	MAPKAPK5	0.30619749
81	ROCK1	0.30297516
82	GRK5	0.29524790
83	PRKCG	0.28522598
84	MKNK2	0.27273732
85	MKNK1	0.26004123
86	PRKG2	0.25709182
87	MELK	0.25630240
88	CSNK1A1	0.25394094
89	EPHA4	0.23328585
90	CAMK4	0.22132244
91	MAP3K9	0.21184813
92	SIK3	0.19750698
93	CAMK2B	0.18682526
94	MAP3K5	0.17854467
95	TNK2	0.17492866
96	CSNK1D	0.17229774
97	ATM	0.16464670
98	SIK2	0.16328287
99	PRKACA	0.15160677
100	MAP4K2	0.15041604

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	3.72003692
2	Butanoate metabolism_Homo sapiens_hsa00650	3.14201510
3	Nitrogen metabolism_Homo sapiens_hsa00910	2.92730018
4	Hedgehog signaling pathway_Homo sapiens_hsa04340	2.84044380
5	Olfactory transduction_Homo sapiens_hsa04740	2.79491045
6	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	2.74264810
7	Gap junction_Homo sapiens_hsa04540	2.68241390
8	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.24752344
9	Propanoate metabolism_Homo sapiens_hsa00640	2.22006578
10	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	2.00298474
11	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.97815830
12	Chemical carcinogenesis_Homo sapiens_hsa05204	1.95061013
13	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.81055289
14	Steroid biosynthesis_Homo sapiens_hsa00100	1.78311065
15	beta-Alanine metabolism_Homo sapiens_hsa00410	1.77066238
16	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.65853101
17	Taste transduction_Homo sapiens_hsa04742	1.58253639
18	Arginine biosynthesis_Homo sapiens_hsa00220	1.52020166
19	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.50446752
20	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.50105295
21	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.48710149
22	Circadian entrainment_Homo sapiens_hsa04713	1.44469555
23	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.44345209
24	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.39466301
25	Circadian rhythm_Homo sapiens_hsa04710	1.37159183
26	Glutathione metabolism_Homo sapiens_hsa00480	1.35478901
27	Cocaine addiction_Homo sapiens_hsa05030	1.34960059
28	Renin secretion_Homo sapiens_hsa04924	1.31899177
29	Glycerolipid metabolism_Homo sapiens_hsa00561	1.28485298
30	GABAergic synapse_Homo sapiens_hsa04727	1.26460095
31	Gastric acid secretion_Homo sapiens_hsa04971	1.26143358
32	Fanconi anemia pathway_Homo sapiens_hsa03460	1.24657820
33	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.21167305
34	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.19431373
35	Alcoholism_Homo sapiens_hsa05034	1.17296630
36	RNA degradation_Homo sapiens_hsa03018	1.15783764
37	Peroxisome_Homo sapiens_hsa04146	1.15220146
38	Phenylalanine metabolism_Homo sapiens_hsa00360	1.13414059
39	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.12235068
40	Histidine metabolism_Homo sapiens_hsa00340	1.09138614
41	Axon guidance_Homo sapiens_hsa04360	1.07978323
42	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.01237179
43	Regulation of autophagy_Homo sapiens_hsa04140	1.00428556
44	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.98012944
45	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.93810202
46	Fatty acid degradation_Homo sapiens_hsa00071	0.85743138
47	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.85088257
48	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.84455486
49	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.83986334
50	Glutamatergic synapse_Homo sapiens_hsa04724	0.82068176
51	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.79099474
52	Nicotine addiction_Homo sapiens_hsa05033	0.78119880
53	Phototransduction_Homo sapiens_hsa04744	0.77519809
54	Phagosome_Homo sapiens_hsa04145	0.77206468
55	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.77016446
56	PPAR signaling pathway_Homo sapiens_hsa03320	0.76254589
57	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.75709937
58	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.73671123
59	Salivary secretion_Homo sapiens_hsa04970	0.73254211
60	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.72254055
61	Apoptosis_Homo sapiens_hsa04210	0.71990063
62	Amphetamine addiction_Homo sapiens_hsa05031	0.70362617
63	Choline metabolism in cancer_Homo sapiens_hsa05231	0.69832682
64	Melanoma_Homo sapiens_hsa05218	0.67353618
65	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.66032728
66	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.65253127
67	Pyruvate metabolism_Homo sapiens_hsa00620	0.64966693
68	Retinol metabolism_Homo sapiens_hsa00830	0.64677210
69	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.64079783
70	Insulin secretion_Homo sapiens_hsa04911	0.63444561
71	Dopaminergic synapse_Homo sapiens_hsa04728	0.60857336
72	Basal cell carcinoma_Homo sapiens_hsa05217	0.60185556
73	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.57975151
74	Morphine addiction_Homo sapiens_hsa05032	0.57424823
75	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.57371313
76	Tyrosine metabolism_Homo sapiens_hsa00350	0.57298383
77	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.56086212
78	Oocyte meiosis_Homo sapiens_hsa04114	0.55608422
79	Hippo signaling pathway_Homo sapiens_hsa04390	0.55303599
80	cAMP signaling pathway_Homo sapiens_hsa04024	0.54918834
81	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.53919092
82	Tryptophan metabolism_Homo sapiens_hsa00380	0.53047809
83	Mineral absorption_Homo sapiens_hsa04978	0.51972950
84	Calcium signaling pathway_Homo sapiens_hsa04020	0.51462164
85	Selenocompound metabolism_Homo sapiens_hsa00450	0.51240555
86	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.50818523
87	Glucagon signaling pathway_Homo sapiens_hsa04922	0.49352161
88	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.48983377
89	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.48409314
90	Wnt signaling pathway_Homo sapiens_hsa04310	0.47300031
91	AMPK signaling pathway_Homo sapiens_hsa04152	0.44055802
92	Cholinergic synapse_Homo sapiens_hsa04725	0.42674006
93	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.41645105
94	Purine metabolism_Homo sapiens_hsa00230	0.41356191
95	Metabolic pathways_Homo sapiens_hsa01100	0.40514775
96	Estrogen signaling pathway_Homo sapiens_hsa04915	0.39771899
97	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.38689309
98	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.38604473
99	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.37685684
100	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.36725361

DEFB109P1

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)

Most similar genes based on co-expression Upload to Enrichr

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