ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	opioid receptor signaling pathway (GO:0038003)	9.54822314
2	behavioral response to ethanol (GO:0048149)	8.28809882
3	ether lipid metabolic process (GO:0046485)	7.97730524
4	adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)	7.80075761
5	sperm motility (GO:0030317)	7.68626934
6	adult feeding behavior (GO:0008343)	7.65235677
7	regulation of translational termination (GO:0006449)	7.60963959
8	negative regulation of calcium ion-dependent exocytosis (GO:0045955)	7.42435264
9	acrosome reaction (GO:0007340)	7.07181329
10	regulation of acrosome reaction (GO:0060046)	7.02756115
11	glycerol ether metabolic process (GO:0006662)	6.78616654
12	piRNA metabolic process (GO:0034587)	6.64220267
13	spermatid development (GO:0007286)	6.47914165
14	fusion of sperm to egg plasma membrane (GO:0007342)	6.47629337
15	ether metabolic process (GO:0018904)	6.26459859
16	regulation of protein glycosylation (GO:0060049)	5.88038655
17	single strand break repair (GO:0000012)	5.85720042
18	chromosome condensation (GO:0030261)	5.80456625
19	positive regulation of cAMP-mediated signaling (GO:0043950)	5.75316143
20	sperm capacitation (GO:0048240)	5.69887533
21	negative regulation of nitric oxide biosynthetic process (GO:0045019)	5.58559215
22	response to pheromone (GO:0019236)	5.53982644
23	glomerular visceral epithelial cell development (GO:0072015)	5.51279864
24	notochord development (GO:0030903)	5.50899419
25	sphingosine metabolic process (GO:0006670)	5.47409378
26	DNA packaging (GO:0006323)	5.35907173
27	coenzyme catabolic process (GO:0009109)	5.12234791
28	glomerular epithelial cell development (GO:0072310)	5.00004425
29	thrombin receptor signaling pathway (GO:0070493)	4.96610125
30	diol metabolic process (GO:0034311)	4.92334819
31	spermatid nucleus differentiation (GO:0007289)	4.91135747
32	multicellular organism reproduction (GO:0032504)	4.87842787
33	plasma membrane fusion (GO:0045026)	4.86030163
34	negative regulation of inclusion body assembly (GO:0090084)	4.62824996
35	sphingoid metabolic process (GO:0046519)	4.61788417
36	regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	4.55579304
37	microtubule severing (GO:0051013)	4.53047950
38	regulation of glutamate receptor signaling pathway (GO:1900449)	4.50935588
39	sperm-egg recognition (GO:0035036)	4.46115452
40	cellular ketone body metabolic process (GO:0046950)	4.42206400
41	regulation of female receptivity (GO:0045924)	4.37240947
42	reproduction (GO:0000003)	4.22633955
43	regulation of cAMP-mediated signaling (GO:0043949)	4.20676550
44	negative regulation of glycoprotein biosynthetic process (GO:0010561)	4.18565110
45	microtubule depolymerization (GO:0007019)	4.13346889
46	cellular response to ammonium ion (GO:0071242)	4.13169169
47	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	4.00753351
48	phosphatidylethanolamine biosynthetic process (GO:0006646)	3.95575951
49	axonemal dynein complex assembly (GO:0070286)	3.94105352
50	protein targeting to Golgi (GO:0000042)	3.92524317
51	cell-cell junction maintenance (GO:0045217)	3.91803003
52	* spermatogenesis (GO:0007283)	3.89166793
53	* male gamete generation (GO:0048232)	3.88690187
54	ketone body metabolic process (GO:1902224)	3.87550777
55	establishment of protein localization to Golgi (GO:0072600)	3.86309676
56	calcium ion-dependent exocytosis (GO:0017156)	3.85193344
57	ncRNA catabolic process (GO:0034661)	3.82280657
58	microtubule polymerization or depolymerization (GO:0031109)	3.81679820
59	female mating behavior (GO:0060180)	3.77716801
60	cilium or flagellum-dependent cell motility (GO:0001539)	3.72459855
61	DNA replication-dependent nucleosome organization (GO:0034723)	3.72444353
62	DNA replication-dependent nucleosome assembly (GO:0006335)	3.72444353
63	mRNA cleavage (GO:0006379)	3.71574191
64	binding of sperm to zona pellucida (GO:0007339)	3.68443538
65	cell-cell recognition (GO:0009988)	3.67724265
66	single fertilization (GO:0007338)	3.63739523
67	signal complex assembly (GO:0007172)	3.60046011
68	pyrimidine dimer repair (GO:0006290)	3.58510938
69	phosphatidylethanolamine metabolic process (GO:0046337)	3.57944764
70	retrograde transport, vesicle recycling within Golgi (GO:0000301)	3.55420138
71	epithelial cilium movement (GO:0003351)	3.54352331
72	regulation of inclusion body assembly (GO:0090083)	3.52869717
73	* gamete generation (GO:0007276)	3.52669814
74	germ cell development (GO:0007281)	3.43243308
75	negative regulation of adenylate cyclase activity (GO:0007194)	3.42989586
76	rRNA methylation (GO:0031167)	3.33153400
77	membrane depolarization during action potential (GO:0086010)	3.30891267
78	fertilization (GO:0009566)	3.30012389
79	negative regulation of cyclase activity (GO:0031280)	3.29022271
80	left/right axis specification (GO:0070986)	3.28734288
81	protein polyglutamylation (GO:0018095)	3.27072022
82	cellular response to alkaloid (GO:0071312)	3.21111834
83	vitamin catabolic process (GO:0009111)	3.12204527
84	fat-soluble vitamin catabolic process (GO:0042363)	3.12204527
85	sexual reproduction (GO:0019953)	3.10503299
86	neuronal action potential (GO:0019228)	3.07853722
87	negative regulation of lyase activity (GO:0051350)	3.06767210
88	regulation of translational elongation (GO:0006448)	3.05521691
89	cell junction maintenance (GO:0034331)	3.04465944
90	regulation of Rab GTPase activity (GO:0032313)	3.01670363
91	positive regulation of Rab GTPase activity (GO:0032851)	3.01670363
92	negative regulation of glycoprotein metabolic process (GO:1903019)	3.00457534
93	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act	2.99259284
94	chromatin silencing (GO:0006342)	2.95779062
95	response to morphine (GO:0043278)	2.94778315
96	negative regulation of cell-matrix adhesion (GO:0001953)	2.94171903
97	cofactor catabolic process (GO:0051187)	2.93460027
98	protein localization to Golgi apparatus (GO:0034067)	2.93316843
99	negative regulation of cytosolic calcium ion concentration (GO:0051481)	12.2873916
100	negative regulation of cAMP-mediated signaling (GO:0043951)	10.4104542

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	3.65051066
2	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	3.37585019
3	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.37585019
4	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.99990834
5	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.94493394
6	VDR_22108803_ChIP-Seq_LS180_Human	2.54844458
7	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.52162237
8	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.23711737
9	CBP_20019798_ChIP-Seq_JUKART_Human	2.19264010
10	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	2.19264010
11	DROSHA_22980978_ChIP-Seq_HELA_Human	2.05476225
12	RXR_22108803_ChIP-Seq_LS180_Human	2.04459445
13	TAF15_26573619_Chip-Seq_HEK293_Human	2.03461523
14	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.94122344
15	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.86329259
16	NANOG_20526341_ChIP-Seq_ESCs_Human	1.80606015
17	ZNF274_21170338_ChIP-Seq_K562_Hela	1.73881769
18	NANOG_19829295_ChIP-Seq_ESCs_Human	1.71395575
19	SOX2_19829295_ChIP-Seq_ESCs_Human	1.71395575
20	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.70646248
21	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.67323198
22	GBX2_23144817_ChIP-Seq_PC3_Human	1.64900543
23	EZH2_22144423_ChIP-Seq_EOC_Human	1.64522629
24	RAC3_21632823_ChIP-Seq_H3396_Human	1.55894637
25	FUS_26573619_Chip-Seq_HEK293_Human	1.52924377
26	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.52867482
27	TP53_18474530_ChIP-ChIP_U2OS_Human	1.52448998
28	ERA_21632823_ChIP-Seq_H3396_Human	1.48641982
29	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.45507768
30	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.43469946
31	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.43390427
32	STAT3_23295773_ChIP-Seq_U87_Human	1.41334616
33	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.40628682
34	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.38843318
35	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.38758757
36	TCF4_23295773_ChIP-Seq_U87_Human	1.36011553
37	ER_23166858_ChIP-Seq_MCF-7_Human	1.35748057
38	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.35069829
39	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.34510344
40	P300_19829295_ChIP-Seq_ESCs_Human	1.34370049
41	AR_25329375_ChIP-Seq_VCAP_Human	1.32213433
42	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.31517799
43	CEBPB_22108803_ChIP-Seq_LS180_Human	1.31286745
44	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.31219091
45	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.30361877
46	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.25312354
47	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.23803422
48	OCT4_20526341_ChIP-Seq_ESCs_Human	1.22327397
49	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.21873136
50	FOXH1_21741376_ChIP-Seq_ESCs_Human	1.21651075
51	AR_21572438_ChIP-Seq_LNCaP_Human	1.21416350
52	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.21057967
53	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.20161193
54	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.18766376
55	RUNX_20019798_ChIP-Seq_JUKART_Human	1.18249695
56	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.17102379
57	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.16910196
58	TAF2_19829295_ChIP-Seq_ESCs_Human	1.16560872
59	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.16517092
60	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.16091522
61	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.14605393
62	OCT1_27270436_Chip-Seq_PROSTATE_Human	1.14121408
63	E2F1_20622854_ChIP-Seq_HELA_Human	1.13847674
64	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.13424078
65	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.13338303
66	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.12857129
67	MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	1.11786520
68	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.10070738
69	SMAD4_21799915_ChIP-Seq_A2780_Human	1.10003305
70	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.09902306
71	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.09718070
72	RUNX2_22187159_ChIP-Seq_PCA_Human	1.09607390
73	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.09523766
74	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.09368221
75	KDM2B_26808549_Chip-Seq_REH_Human	1.09117883
76	HTT_18923047_ChIP-ChIP_STHdh_Human	1.08886352
77	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.07769038
78	BCAT_22108803_ChIP-Seq_LS180_Human	1.05478969
79	SMRT_27268052_Chip-Seq_Bcells_Human	1.05001662
80	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.03380489
81	P53_21459846_ChIP-Seq_SAOS-2_Human	1.02813683
82	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.02024342
83	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.01891672
84	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.01318161
85	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.00427881
86	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.00355817
87	CDX2_22108803_ChIP-Seq_LS180_Human	0.99844290
88	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.99819146
89	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.99070038
90	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	0.98123347
91	TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human	0.97853521
92	MYC_19829295_ChIP-Seq_ESCs_Human	0.96844357
93	NFYB_21822215_ChIP-Seq_K562_Human	0.96565181
94	TP63_23658742_ChIP-Seq_EP156T_Human	0.96547987
95	RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.96158766
96	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	0.95896208
97	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.95254440
98	TP63_22573176_ChIP-Seq_HFKS_Human	0.95113737
99	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.94626222
100	PKCTHETA_26484144_Chip-Seq_BREAST_Human	0.94111454

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0009780_abnormal_chondrocyte_physiolo	6.11377001
2	MP0005410_abnormal_fertilization	5.80042433
3	MP0009278_abnormal_bone_marrow	5.60431705
4	MP0002876_abnormal_thyroid_physiology	4.32797988
5	MP0000678_abnormal_parathyroid_gland	4.01985385
6	MP0001968_abnormal_touch/_nociception	3.84067621
7	MP0005360_urolithiasis	3.40847192
8	MP0005503_abnormal_tendon_morphology	3.20944700
9	MP0005670_abnormal_white_adipose	2.80820611
10	MP0000681_abnormal_thyroid_gland	2.65908094
11	MP0002249_abnormal_larynx_morphology	2.36725713
12	MP0003880_abnormal_central_pattern	2.32681713
13	MP0003698_abnormal_male_reproductive	2.31868146
14	MP0003878_abnormal_ear_physiology	2.31747658
15	MP0005377_hearing/vestibular/ear_phenot	2.31747658
16	MP0003879_abnormal_hair_cell	2.28408366
17	MP0009764_decreased_sensitivity_to	2.28011866
18	MP0001501_abnormal_sleep_pattern	2.25873340
19	MP0005397_hematopoietic_system_phenotyp	2.21343940
20	MP0001545_abnormal_hematopoietic_system	2.21343940
21	MP0003646_muscle_fatigue	2.08622456
22	MP0003941_abnormal_skin_development	2.03472044
23	MP0001929_abnormal_gametogenesis	1.98725105
24	MP0005551_abnormal_eye_electrophysiolog	1.97076212
25	MP0003045_fibrosis	1.83542925
26	MP0001348_abnormal_lacrimal_gland	1.78076437
27	MP0001664_abnormal_digestion	1.73831709
28	MP0002733_abnormal_thermal_nociception	1.61458426
29	MP0005646_abnormal_pituitary_gland	1.59800051
30	MP0003183_abnormal_peptide_metabolism	1.50045700
31	MP0003633_abnormal_nervous_system	1.48662995
32	MP0001486_abnormal_startle_reflex	1.47817383
33	MP0003638_abnormal_response/metabolism_	1.46585821
34	MP0006035_abnormal_mitochondrial_morpho	1.45401065
35	MP0009333_abnormal_splenocyte_physiolog	1.30813642
36	MP0003959_abnormal_lean_body	1.29355598
37	MP0009745_abnormal_behavioral_response	1.23100362
38	MP0005645_abnormal_hypothalamus_physiol	1.20582919
39	MP0001485_abnormal_pinna_reflex	1.19674505
40	MP0002132_abnormal_respiratory_system	1.16455382
41	MP0004859_abnormal_synaptic_plasticity	1.14549625
42	MP0009046_muscle_twitch	1.13962426
43	MP0005310_abnormal_salivary_gland	1.13424038
44	MP0003950_abnormal_plasma_membrane	1.10490589
45	MP0002272_abnormal_nervous_system	1.10189974
46	MP0004782_abnormal_surfactant_physiolog	1.08502264
47	MP0000049_abnormal_middle_ear	1.06433607
48	MP0000230_abnormal_systemic_arterial	1.05740078
49	MP0002161_abnormal_fertility/fecundity	1.02517065
50	MP0002971_abnormal_brown_adipose	1.02335496
51	MP0003718_maternal_effect	0.98365787
52	MP0009053_abnormal_anal_canal	0.95467100
53	MP0001963_abnormal_hearing_physiology	0.95175856
54	MP0001970_abnormal_pain_threshold	0.95060749
55	MP0003191_abnormal_cellular_cholesterol	0.94852574
56	MP0008057_abnormal_DNA_replication	0.93371553
57	MP0002796_impaired_skin_barrier	0.93121217
58	MP0002168_other_aberrant_phenotype	0.92408294
59	MP0003631_nervous_system_phenotype	0.90673024
60	MP0005167_abnormal_blood-brain_barrier	0.89613776
61	MP0001270_distended_abdomen	0.89605290
62	MP0010234_abnormal_vibrissa_follicle	0.87584210
63	MP0009765_abnormal_xenobiotic_induced	0.87373862
64	MP0002210_abnormal_sex_determination	0.86345755
65	MP0004742_abnormal_vestibular_system	0.86232524
66	MP0002229_neurodegeneration	0.86021562
67	MP0003195_calcinosis	0.82423779
68	MP0008775_abnormal_heart_ventricle	0.81266379
69	MP0005395_other_phenotype	0.80314152
70	MP0004085_abnormal_heartbeat	0.77581933
71	MP0001765_abnormal_ion_homeostasis	0.74667123
72	MP0002557_abnormal_social/conspecific_i	0.72992783
73	MP0004858_abnormal_nervous_system	0.72436622
74	MP0001881_abnormal_mammary_gland	0.71952597
75	MP0002693_abnormal_pancreas_physiology	0.71594933
76	MP0008874_decreased_physiological_sensi	0.70529226
77	MP0005379_endocrine/exocrine_gland_phen	0.69834290
78	MP0000749_muscle_degeneration	0.69522529
79	MP0002067_abnormal_sensory_capabilities	0.69164447
80	MP0002282_abnormal_trachea_morphology	0.68800553
81	MP0005334_abnormal_fat_pad	0.68800280
82	MP0005083_abnormal_biliary_tract	0.64826019
83	MP0002108_abnormal_muscle_morphology	0.63469992
84	MP0001145_abnormal_male_reproductive	0.60968033
85	MP0003136_yellow_coat_color	0.60576593
86	MP0009384_cardiac_valve_regurgitation	0.60549780
87	MP0000015_abnormal_ear_pigmentation	0.60295093
88	MP0002572_abnormal_emotion/affect_behav	0.59527468
89	MP0002735_abnormal_chemical_nociception	0.59056026
90	MP0004130_abnormal_muscle_cell	0.57972305
91	MP0003635_abnormal_synaptic_transmissio	0.57219348
92	MP0003567_abnormal_fetal_cardiomyocyte	0.55440604
93	MP0002127_abnormal_cardiovascular_syste	0.52434517
94	MP0005195_abnormal_posterior_eye	0.52281176
95	MP0000653_abnormal_sex_gland	0.51203098
96	MP0003936_abnormal_reproductive_system	0.51103907
97	MP0008877_abnormal_DNA_methylation	0.48850984
98	MP0008872_abnormal_physiological_respon	0.48458720
99	MP0004036_abnormal_muscle_relaxation	0.46521445
100	MP0003868_abnormal_feces_composition	0.45496150

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of the aortic arch (HP:0012303)	6.50458182
2	Volvulus (HP:0002580)	6.27712167
3	Intestinal atresia (HP:0011100)	5.96020823
4	Severe visual impairment (HP:0001141)	5.77279440
5	Pancreatic islet-cell hyperplasia (HP:0004510)	5.20228591
6	Thickened helices (HP:0000391)	4.98315294
7	Broad alveolar ridges (HP:0000187)	4.69039514
8	Large for gestational age (HP:0001520)	4.50991824
9	Oligodontia (HP:0000677)	4.43818668
10	Mesangial abnormality (HP:0001966)	4.23856420
11	Attenuation of retinal blood vessels (HP:0007843)	4.15466878
12	Focal motor seizures (HP:0011153)	3.87597237
13	Tubular atrophy (HP:0000092)	3.84128139
14	Abnormality of macular pigmentation (HP:0008002)	3.82166918
15	Poor head control (HP:0002421)	3.75864813
16	Gaze-evoked nystagmus (HP:0000640)	3.72103959
17	Bony spicule pigmentary retinopathy (HP:0007737)	3.54518874
18	Agitation (HP:0000713)	3.43725261
19	Abnormality of endocrine pancreas physiology (HP:0012093)	3.39823384
20	Abnormality of the pancreatic islet cells (HP:0006476)	3.39823384
21	Impulsivity (HP:0100710)	3.36736161
22	Gastrointestinal atresia (HP:0002589)	3.35833687
23	Cerebellar dysplasia (HP:0007033)	3.33404069
24	Abnormality of the ileum (HP:0001549)	3.33373588
25	Type II lissencephaly (HP:0007260)	3.30138077
26	Congenital ichthyosiform erythroderma (HP:0007431)	3.25364484
27	Optic nerve hypoplasia (HP:0000609)	3.22997673
28	Hyperthyroidism (HP:0000836)	3.18196013
29	Abnormal rod and cone electroretinograms (HP:0008323)	3.00456363
30	Amelogenesis imperfecta (HP:0000705)	2.94566895
31	Cone-rod dystrophy (HP:0000548)	2.93749207
32	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.88502365
33	Absent/shortened dynein arms (HP:0200106)	2.88502365
34	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.81140603
35	Hypoproteinemia (HP:0003075)	2.73422068
36	Tented upper lip vermilion (HP:0010804)	2.71107028
37	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.64772454
38	Large eyes (HP:0001090)	2.64449498
39	Myositis (HP:0100614)	2.57122281
40	Abnormal respiratory motile cilium morphology (HP:0005938)	2.46809137
41	Abnormal respiratory epithelium morphology (HP:0012253)	2.46809137
42	Hypoplasia of the brainstem (HP:0002365)	2.46096950
43	Aplasia/Hypoplasia of the brainstem (HP:0007362)	2.46096950
44	Abnormal respiratory motile cilium physiology (HP:0012261)	2.41683043
45	Abnormal ciliary motility (HP:0012262)	2.40455692
46	Orchitis (HP:0100796)	2.36216379
47	Nonprogressive disorder (HP:0003680)	2.32342868
48	Pendular nystagmus (HP:0012043)	2.31766786
49	Neonatal respiratory distress (HP:0002643)	2.31511509
50	Abnormality of the alveolar ridges (HP:0006477)	2.28969738
51	Abnormality of the vitreous humor (HP:0004327)	2.28100381
52	Poor speech (HP:0002465)	2.27023923
53	Nephroblastoma (Wilms tumor) (HP:0002667)	2.25399688
54	Increased corneal curvature (HP:0100692)	2.24669986
55	Keratoconus (HP:0000563)	2.24669986
56	Hyperpituitarism (HP:0010514)	2.22846878
57	Facial shape deformation (HP:0011334)	2.20383037
58	Potter facies (HP:0002009)	2.20383037
59	Chromsome breakage (HP:0040012)	2.18985969
60	Goiter (HP:0000853)	2.18684413
61	Congenital stationary night blindness (HP:0007642)	2.17667642
62	Focal seizures (HP:0007359)	2.16115482
63	Scotoma (HP:0000575)	2.14652262
64	Abnormality of dental color (HP:0011073)	2.12637608
65	Embryonal renal neoplasm (HP:0011794)	2.10988847
66	Dialeptic seizures (HP:0011146)	2.09467850
67	Peritonitis (HP:0002586)	2.07352710
68	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.06518867
69	Infertility (HP:0000789)	2.06480130
70	Asymmetric septal hypertrophy (HP:0001670)	2.06304576
71	Lissencephaly (HP:0001339)	2.05683227
72	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	2.03593885
73	Abnormal drinking behavior (HP:0030082)	2.03375276
74	Polydipsia (HP:0001959)	2.03375276
75	Chronic hepatic failure (HP:0100626)	2.01181893
76	Thyroid-stimulating hormone excess (HP:0002925)	12.2259710
77	Amblyopia (HP:0000646)	1.98409982
78	Abnormal urine output (HP:0012590)	1.97960552
79	Truncal obesity (HP:0001956)	1.97365610
80	Polyuria (HP:0000103)	1.88568814
81	Hypophosphatemic rickets (HP:0004912)	1.86392579
82	Hyperkalemia (HP:0002153)	1.85061602
83	Pili torti (HP:0003777)	1.84930279
84	Photophobia (HP:0000613)	1.84155651
85	Broad-based gait (HP:0002136)	1.83645296
86	Decreased central vision (HP:0007663)	1.83021737
87	Enlarged epiphyses (HP:0010580)	1.82972214
88	Round face (HP:0000311)	1.82775248
89	Pigmentary retinal degeneration (HP:0001146)	1.82514926
90	Hypoplastic ischia (HP:0003175)	1.80301411
91	Dysdiadochokinesis (HP:0002075)	1.79946512
92	Hypohidrosis (HP:0000966)	1.79454693
93	Horizontal nystagmus (HP:0000666)	1.76893735
94	Progressive inability to walk (HP:0002505)	1.73377579
95	Central scotoma (HP:0000603)	1.72866017
96	Long nose (HP:0003189)	1.72673982
97	Ectropion (HP:0000656)	1.71793478
98	Hamartoma (HP:0010566)	1.69580225
99	Atonic seizures (HP:0010819)	1.68850293
100	Muscular dystrophy (HP:0003560)	1.68432912

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	ADRBK2	9.43476780
2	FRK	5.00868330
3	PLK4	4.23639160
4	ERN1	4.23313072
5	PINK1	3.53821927
6	PNCK	3.21242115
7	IRAK3	2.67097633
8	INSRR	2.57916656
9	PLK2	2.50563009
10	ADRBK1	2.30667038
11	DDR2	2.21414867
12	TYRO3	2.12008903
13	STK38	1.98990237
14	TESK1	1.85731863
15	CAMK1G	1.85118338
16	PRKCG	1.75232481
17	MAP4K2	1.63210812
18	STK38L	1.43938670
19	ACVR1B	1.41360938
20	PRKCE	1.39604403
21	DYRK3	1.37648140
22	RIPK1	1.34719334
23	TGFBR1	1.27683905
24	IRAK1	1.26654439
25	MAPK11	1.24601965
26	BMPR1B	1.13064364
27	PIK3CG	1.10294209
28	BRD4	1.06163032
29	PTK2B	0.95345071
30	MAPK15	0.91306831
31	PDK1	0.86288289
32	CDK12	0.84614742
33	CLK1	0.80616086
34	PDPK1	0.79497523
35	GRK1	0.73323232
36	CAMK2A	0.72704550
37	NEK9	0.69475771
38	MST1R	0.67162785
39	CAMK1	0.66045745
40	PRKD3	0.61523020
41	BRAF	0.56171917
42	BRSK1	0.55635575
43	CDK7	0.53932475
44	ERBB2	0.52036840
45	MAPK1	0.49588621
46	MAP2K2	0.48363253
47	STK3	0.48309709
48	GRK7	0.48294428
49	SGK1	0.47948061
50	PRKCB	0.46865104
51	SIK2	0.46248637
52	NEK2	0.43929313
53	CAMK4	0.43769297
54	OXSR1	0.42253855
55	MAPKAPK5	0.41518547
56	PRKCI	0.39793505
57	CAMK1D	0.39523470
58	WNK1	0.39072243
59	STK39	0.38280257
60	AKT1	0.38055952
61	PRKAA2	0.36161173
62	MAP3K9	0.35495569
63	GSK3B	0.35375142
64	PRKG1	0.34513006
65	TIE1	0.30972182
66	RPS6KA3	0.29021440
67	PRKCA	0.28915364
68	MAP3K8	0.26388988
69	TAOK3	0.25089344
70	CDK2	0.24331478
71	MUSK	0.23355532
72	CDK1	0.23280908
73	RPS6KA6	0.22561751
74	GRK5	0.22376257
75	LATS2	0.20907397
76	MAPK8	0.20547840
77	RPS6KA1	0.20485649
78	MOS	0.19685825
79	WNK4	0.19568511
80	PRKG2	0.18758982
81	DYRK1A	0.18671882
82	MAPK3	0.18663958
83	KIT	0.18020200
84	PRKACA	0.17571867
85	MAPK10	0.17219463
86	CSNK1E	0.16935273
87	CSNK1A1	0.16083298
88	FLT3	0.16021395
89	MAPK14	0.15844350
90	ZAK	0.15399374
91	NEK6	0.14989299
92	PRKAA1	0.14689287
93	MAP2K1	0.14655522
94	FGFR2	0.13841139
95	PKN2	0.12797707
96	PRKCH	0.12384058
97	PRKACG	0.11393512
98	MKNK1	0.11374154
99	CHUK	0.10379095
100	RPS6KC1	0.10083990

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	4.53054956
2	Olfactory transduction_Homo sapiens_hsa04740	4.47454890
3	Dorso-ventral axis formation_Homo sapiens_hsa04320	4.18245103
4	Fatty acid biosynthesis_Homo sapiens_hsa00061	2.65118357
5	Butanoate metabolism_Homo sapiens_hsa00650	2.55035210
6	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.54610686
7	ABC transporters_Homo sapiens_hsa02010	2.43038454
8	Steroid hormone biosynthesis_Homo sapiens_hsa00140	2.40437283
9	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.38036898
10	Phototransduction_Homo sapiens_hsa04744	2.29420046
11	Morphine addiction_Homo sapiens_hsa05032	2.29223090
12	Cyanoamino acid metabolism_Homo sapiens_hsa00460	2.28710497
13	Taste transduction_Homo sapiens_hsa04742	2.05280217
14	Sphingolipid metabolism_Homo sapiens_hsa00600	1.86212458
15	Glycerolipid metabolism_Homo sapiens_hsa00561	1.82769647
16	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.71228713
17	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.60732543
18	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.60225495
19	Tryptophan metabolism_Homo sapiens_hsa00380	1.52963479
20	Glycerophospholipid metabolism_Homo sapiens_hsa00564	1.52544490
21	Fatty acid degradation_Homo sapiens_hsa00071	1.44435983
22	Sulfur relay system_Homo sapiens_hsa04122	1.35761470
23	Salivary secretion_Homo sapiens_hsa04970	1.31117475
24	Fanconi anemia pathway_Homo sapiens_hsa03460	1.30824637
25	Linoleic acid metabolism_Homo sapiens_hsa00591	1.30520565
26	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.18889647
27	Retinol metabolism_Homo sapiens_hsa00830	1.18407704
28	Pentose phosphate pathway_Homo sapiens_hsa00030	1.17573803
29	Calcium signaling pathway_Homo sapiens_hsa04020	1.15673560
30	Estrogen signaling pathway_Homo sapiens_hsa04915	1.14978425
31	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.13603500
32	Graft-versus-host disease_Homo sapiens_hsa05332	1.08150988
33	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.02574508
34	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.01034507
35	Circadian entrainment_Homo sapiens_hsa04713	0.98582542
36	Arginine biosynthesis_Homo sapiens_hsa00220	0.95314531
37	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.95196300
38	Arginine and proline metabolism_Homo sapiens_hsa00330	0.93542983
39	Nicotine addiction_Homo sapiens_hsa05033	0.93019509
40	Complement and coagulation cascades_Homo sapiens_hsa04610	0.91070899
41	Nitrogen metabolism_Homo sapiens_hsa00910	0.90446356
42	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.89817615
43	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.89188478
44	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.87149514
45	Glutamatergic synapse_Homo sapiens_hsa04724	0.85248491
46	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.83123055
47	Allograft rejection_Homo sapiens_hsa05330	0.81664719
48	Mineral absorption_Homo sapiens_hsa04978	0.80461109
49	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.77900691
50	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.76544744
51	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.75434082
52	Protein digestion and absorption_Homo sapiens_hsa04974	0.73705990
53	Caffeine metabolism_Homo sapiens_hsa00232	0.71967947
54	Basal transcription factors_Homo sapiens_hsa03022	0.70205837
55	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.68755203
56	Chemical carcinogenesis_Homo sapiens_hsa05204	0.68411572
57	ECM-receptor interaction_Homo sapiens_hsa04512	0.67853810
58	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.66942354
59	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.65612424
60	Type I diabetes mellitus_Homo sapiens_hsa04940	0.64444486
61	Serotonergic synapse_Homo sapiens_hsa04726	0.61723754
62	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.59336976
63	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.58006001
64	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.57912351
65	cAMP signaling pathway_Homo sapiens_hsa04024	0.56131817
66	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.55981167
67	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.54370359
68	Pancreatic secretion_Homo sapiens_hsa04972	0.53143650
69	Insulin secretion_Homo sapiens_hsa04911	0.52617966
70	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.51772894
71	Histidine metabolism_Homo sapiens_hsa00340	0.48921320
72	PPAR signaling pathway_Homo sapiens_hsa03320	0.47912526
73	Legionellosis_Homo sapiens_hsa05134	0.47329290
74	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.46473203
75	Long-term depression_Homo sapiens_hsa04730	0.45737745
76	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.45692660
77	mRNA surveillance pathway_Homo sapiens_hsa03015	0.43206361
78	Renin secretion_Homo sapiens_hsa04924	0.42255376
79	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.41710434
80	Purine metabolism_Homo sapiens_hsa00230	0.39938074
81	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.39672197
82	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.39328795
83	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.39141718
84	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.38340241
85	Metabolic pathways_Homo sapiens_hsa01100	0.36427871
86	Antigen processing and presentation_Homo sapiens_hsa04612	0.34914428
87	Phenylalanine metabolism_Homo sapiens_hsa00360	0.34466552
88	Cardiac muscle contraction_Homo sapiens_hsa04260	0.34455360
89	MicroRNAs in cancer_Homo sapiens_hsa05206	0.33914199
90	Bile secretion_Homo sapiens_hsa04976	0.32312787
91	MAPK signaling pathway_Homo sapiens_hsa04010	0.32211330
92	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.31475647
93	Renin-angiotensin system_Homo sapiens_hsa04614	0.31222143
94	RNA transport_Homo sapiens_hsa03013	0.30192270
95	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.30102223
96	Ether lipid metabolism_Homo sapiens_hsa00565	0.30023809
97	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.29605220
98	GABAergic synapse_Homo sapiens_hsa04727	0.28777603
99	Fatty acid metabolism_Homo sapiens_hsa01212	0.26946915
100	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.24382879

SPATA31D4

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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