ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.56633161
2	DNA deamination (GO:0045006)	5.43898860
3	fucose catabolic process (GO:0019317)	4.33787903
4	L-fucose metabolic process (GO:0042354)	4.33787903
5	L-fucose catabolic process (GO:0042355)	4.33787903
6	tryptophan catabolic process (GO:0006569)	3.89679969
7	indole-containing compound catabolic process (GO:0042436)	3.89679969
8	indolalkylamine catabolic process (GO:0046218)	3.89679969
9	response to pheromone (GO:0019236)	3.87313487
10	kynurenine metabolic process (GO:0070189)	3.76104973
11	indolalkylamine metabolic process (GO:0006586)	3.69105849
12	cytidine metabolic process (GO:0046087)	3.66879814
13	cytidine catabolic process (GO:0006216)	3.66879814
14	cytidine deamination (GO:0009972)	3.66879814
15	negative regulation of telomere maintenance (GO:0032205)	3.58647770
16	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.52528843
17	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.44945607
18	tryptophan metabolic process (GO:0006568)	3.41987727
19	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.39003681
20	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.39003681
21	NADH dehydrogenase complex assembly (GO:0010257)	3.39003681
22	protein complex biogenesis (GO:0070271)	3.32997662
23	detection of light stimulus involved in visual perception (GO:0050908)	3.32048200
24	detection of light stimulus involved in sensory perception (GO:0050962)	3.32048200
25	negative regulation of mast cell activation (GO:0033004)	3.27050727
26	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.26482701
27	sulfation (GO:0051923)	3.26387800
28	cellular ketone body metabolic process (GO:0046950)	3.23920412
29	platelet dense granule organization (GO:0060155)	3.23708376
30	positive regulation of defense response to virus by host (GO:0002230)	3.21623702
31	protein import into peroxisome matrix (GO:0016558)	3.14619265
32	mitochondrial respiratory chain complex assembly (GO:0033108)	3.10436376
33	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.08228088
34	rRNA catabolic process (GO:0016075)	3.00108875
35	multicellular organism reproduction (GO:0032504)	2.95214314
36	indole-containing compound metabolic process (GO:0042430)	2.92578896
37	gamma-aminobutyric acid transport (GO:0015812)	2.92190411
38	cellular biogenic amine catabolic process (GO:0042402)	2.90311515
39	amine catabolic process (GO:0009310)	2.90311515
40	ketone body metabolic process (GO:1902224)	2.89276652
41	preassembly of GPI anchor in ER membrane (GO:0016254)	2.88578282
42	neural tube formation (GO:0001841)	2.86928702
43	respiratory chain complex IV assembly (GO:0008535)	2.83610073
44	piRNA metabolic process (GO:0034587)	2.80652434
45	regulation of action potential (GO:0098900)	2.79269864
46	regulation of hippo signaling (GO:0035330)	2.77739071
47	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.76388868
48	rhodopsin mediated signaling pathway (GO:0016056)	2.75339847
49	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.73724129
50	axoneme assembly (GO:0035082)	2.73468522
51	neuronal action potential (GO:0019228)	2.73303134
52	protein K11-linked deubiquitination (GO:0035871)	2.72665131
53	DNA demethylation (GO:0080111)	2.69401140
54	mannosylation (GO:0097502)	2.68563696
55	water-soluble vitamin biosynthetic process (GO:0042364)	2.64900919
56	primary amino compound metabolic process (GO:1901160)	2.63789322
57	cytochrome complex assembly (GO:0017004)	2.63017031
58	ubiquinone biosynthetic process (GO:0006744)	2.60619548
59	epithelial cilium movement (GO:0003351)	2.58897548
60	cilium or flagellum-dependent cell motility (GO:0001539)	2.57608935
61	behavioral response to ethanol (GO:0048149)	2.57516274
62	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.55608624
63	protein polyglutamylation (GO:0018095)	2.55527023
64	reciprocal meiotic recombination (GO:0007131)	2.55496920
65	reciprocal DNA recombination (GO:0035825)	2.55496920
66	regulation of gene silencing by RNA (GO:0060966)	2.54689820
67	regulation of posttranscriptional gene silencing (GO:0060147)	2.54689820
68	regulation of gene silencing by miRNA (GO:0060964)	2.54689820
69	NAD biosynthetic process (GO:0009435)	2.54407471
70	reflex (GO:0060004)	2.52601879
71	recombinational repair (GO:0000725)	2.52166015
72	retinal cone cell development (GO:0046549)	2.50818237
73	cornea development in camera-type eye (GO:0061303)	2.50577421
74	positive regulation of fatty acid transport (GO:2000193)	2.49937149
75	double-strand break repair via homologous recombination (GO:0000724)	2.49876347
76	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.48572363
77	nonmotile primary cilium assembly (GO:0035058)	2.48214688
78	transmission of nerve impulse (GO:0019226)	2.45975214
79	serotonin metabolic process (GO:0042428)	2.45297937
80	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.43900274
81	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.43900274
82	adaptation of signaling pathway (GO:0023058)	2.42488155
83	synaptic transmission, cholinergic (GO:0007271)	2.40959908
84	protein-cofactor linkage (GO:0018065)	2.37895709
85	oxidative demethylation (GO:0070989)	2.37828955
86	dopamine transport (GO:0015872)	2.36727281
87	regulation of defense response to virus by host (GO:0050691)	2.36218740
88	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.35343204
89	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.35343204
90	ubiquinone metabolic process (GO:0006743)	2.35307087
91	cilium morphogenesis (GO:0060271)	2.34594480
92	cilium movement (GO:0003341)	2.34468465
93	pseudouridine synthesis (GO:0001522)	2.33941426
94	positive regulation of prostaglandin secretion (GO:0032308)	2.32876003
95	cAMP catabolic process (GO:0006198)	2.32136142
96	regulation of neurotransmitter uptake (GO:0051580)	2.31578366
97	protein localization to cilium (GO:0061512)	2.30911255
98	photoreceptor cell development (GO:0042461)	2.30489789
99	regulation of telomere maintenance (GO:0032204)	2.30122818
100	replication fork processing (GO:0031297)	2.29473236

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.10585302
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.27826735
3	VDR_22108803_ChIP-Seq_LS180_Human	3.20225292
4	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.88983239
5	GBX2_23144817_ChIP-Seq_PC3_Human	2.53852266
6	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.42181214
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.40252631
8	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.25709573
9	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.23455059
10	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.15998508
11	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.14680277
12	IGF1R_20145208_ChIP-Seq_DFB_Human	2.08194075
13	IRF1_19129219_ChIP-ChIP_H3396_Human	2.06305416
14	IRF8_22096565_ChIP-ChIP_GC-B_Human	2.01966485
15	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.97638657
16	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.96327329
17	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.96057814
18	EWS_26573619_Chip-Seq_HEK293_Human	1.95635603
19	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.93899596
20	ER_23166858_ChIP-Seq_MCF-7_Human	1.89118310
21	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.85284390
22	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.79720816
23	TAF15_26573619_Chip-Seq_HEK293_Human	1.71559396
24	MYC_18940864_ChIP-ChIP_HL60_Human	1.64669824
25	FUS_26573619_Chip-Seq_HEK293_Human	1.62886947
26	TP53_22573176_ChIP-Seq_HFKS_Human	1.62121036
27	P300_19829295_ChIP-Seq_ESCs_Human	1.56186304
28	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.56061986
29	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.50883852
30	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.50056352
31	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.46675402
32	REST_21632747_ChIP-Seq_MESCs_Mouse	1.45780728
33	AR_21572438_ChIP-Seq_LNCaP_Human	1.44228306
34	BCAT_22108803_ChIP-Seq_LS180_Human	1.44209142
35	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.44152796
36	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.43936648
37	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.43936648
38	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.43410135
39	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.43410135
40	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.41282284
41	STAT3_23295773_ChIP-Seq_U87_Human	1.39645137
42	VDR_23849224_ChIP-Seq_CD4+_Human	1.36597984
43	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.36242609
44	HOXB7_26014856_ChIP-Seq_BT474_Human	1.30797247
45	TCF4_23295773_ChIP-Seq_U87_Human	1.26430285
46	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.25730268
47	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.25719111
48	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.25649444
49	NANOG_19829295_ChIP-Seq_ESCs_Human	1.23435576
50	SOX2_19829295_ChIP-Seq_ESCs_Human	1.23435576
51	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.22544157
52	AR_25329375_ChIP-Seq_VCAP_Human	1.22273370
53	CBP_20019798_ChIP-Seq_JUKART_Human	1.22083920
54	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.22083920
55	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.20017822
56	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.19689602
57	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.18383674
58	* NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.18155642
59	NCOR_22424771_ChIP-Seq_293T_Human	1.18034430
60	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.16634659
61	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.16571494
62	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.16567740
63	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.15539435
64	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.15183055
65	AR_20517297_ChIP-Seq_VCAP_Human	1.14685629
66	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.13356472
67	GATA3_26560356_Chip-Seq_TH2_Human	1.11878980
68	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.09671321
69	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.09212060
70	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.09065014
71	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.08323098
72	TCF4_22108803_ChIP-Seq_LS180_Human	1.07696254
73	NANOG_20526341_ChIP-Seq_ESCs_Human	1.07690593
74	ERA_21632823_ChIP-Seq_H3396_Human	1.07087183
75	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.06882500
76	RNF2_27304074_Chip-Seq_NSC_Mouse	1.06020880
77	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.05397371
78	TAF2_19829295_ChIP-Seq_ESCs_Human	1.05081678
79	SMAD4_21799915_ChIP-Seq_A2780_Human	1.04641637
80	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.03656597
81	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.03011751
82	MYC_19829295_ChIP-Seq_ESCs_Human	1.02254346
83	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.01493506
84	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.01230812
85	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.00943442
86	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.00823224
87	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.00620604
88	FLI1_21867929_ChIP-Seq_TH2_Mouse	0.99297593
89	RUNX2_22187159_ChIP-Seq_PCA_Human	0.97615764
90	DROSHA_22980978_ChIP-Seq_HELA_Human	0.97480140
91	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.97336008
92	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.96294252
93	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.95438299
94	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	0.95049174
95	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.94988945
96	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.94300329
97	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.92885264
98	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.92641010
99	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	0.91636892
100	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.90887219

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	2.60798056
2	MP0005645_abnormal_hypothalamus_physiol	2.58822345
3	MP0001968_abnormal_touch/_nociception	2.54667934
4	MP0002653_abnormal_ependyma_morphology	2.40650657
5	MP0009046_muscle_twitch	2.36711741
6	MP0008872_abnormal_physiological_respon	2.34344379
7	MP0003195_calcinosis	2.29858510
8	MP0005551_abnormal_eye_electrophysiolog	2.29362660
9	MP0001986_abnormal_taste_sensitivity	2.25459487
10	MP0000569_abnormal_digit_pigmentation	2.22671394
11	MP0005671_abnormal_response_to	2.08589381
12	MP0002102_abnormal_ear_morphology	2.07453451
13	MP0002736_abnormal_nociception_after	2.01474534
14	MP0009745_abnormal_behavioral_response	2.01324086
15	MP0003787_abnormal_imprinting	1.89676062
16	MP0004043_abnormal_pH_regulation	1.86684045
17	MP0000427_abnormal_hair_cycle	1.86439253
18	MP0000372_irregular_coat_pigmentation	1.80021353
19	MP0003646_muscle_fatigue	1.79138695
20	MP0004142_abnormal_muscle_tone	1.76664239
21	MP0006292_abnormal_olfactory_placode	1.70573857
22	MP0005646_abnormal_pituitary_gland	1.68608142
23	MP0003136_yellow_coat_color	1.64610045
24	MP0008875_abnormal_xenobiotic_pharmacok	1.63803077
25	MP0006072_abnormal_retinal_apoptosis	1.63737952
26	MP0003880_abnormal_central_pattern	1.61374733
27	MP0002837_dystrophic_cardiac_calcinosis	1.60274621
28	MP0001501_abnormal_sleep_pattern	1.56168492
29	MP0002876_abnormal_thyroid_physiology	1.55458943
30	MP0002272_abnormal_nervous_system	1.55376021
31	MP0004147_increased_porphyrin_level	1.51316224
32	MP0002735_abnormal_chemical_nociception	1.51055246
33	MP0000631_abnormal_neuroendocrine_gland	1.49765139
34	MP0005253_abnormal_eye_physiology	1.43469111
35	MP0000685_abnormal_immune_system	1.43444513
36	MP0005174_abnormal_tail_pigmentation	1.42705817
37	MP0004885_abnormal_endolymph	1.41898828
38	MP0001800_abnormal_humoral_immune	1.41647205
39	MP0005075_abnormal_melanosome_morpholog	1.39900256
40	MP0002638_abnormal_pupillary_reflex	1.35266313
41	MP0002064_seizures	1.33944242
42	MP0001873_stomach_inflammation	1.33490220
43	MP0001919_abnormal_reproductive_system	1.31771164
44	MP0002572_abnormal_emotion/affect_behav	1.31167186
45	MP0004133_heterotaxia	1.27946497
46	MP0002733_abnormal_thermal_nociception	1.26630154
47	MP0001485_abnormal_pinna_reflex	1.25663880
48	MP0005389_reproductive_system_phenotype	1.25386189
49	MP0001486_abnormal_startle_reflex	1.24812619
50	MP0004742_abnormal_vestibular_system	1.23955492
51	MP0002163_abnormal_gland_morphology	1.21557456
52	MP0006276_abnormal_autonomic_nervous	1.21275945
53	MP0002928_abnormal_bile_duct	1.20886272
54	MP0002138_abnormal_hepatobiliary_system	1.19574400
55	MP0002938_white_spotting	1.19223509
56	MP0001970_abnormal_pain_threshold	1.17020484
57	MP0003011_delayed_dark_adaptation	1.15950561
58	MP0002557_abnormal_social/conspecific_i	1.12955814
59	MP0005423_abnormal_somatic_nervous	1.12525491
60	MP0002067_abnormal_sensory_capabilities	1.11659469
61	MP0005386_behavior/neurological_phenoty	1.09290629
62	MP0004924_abnormal_behavior	1.09290629
63	MP0003635_abnormal_synaptic_transmissio	1.09138201
64	MP0002160_abnormal_reproductive_system	1.08943078
65	MP0005084_abnormal_gallbladder_morpholo	1.08237480
66	MP0001790_abnormal_immune_system	1.08147964
67	MP0005387_immune_system_phenotype	1.08147964
68	MP0005310_abnormal_salivary_gland	1.07941191
69	MP0010386_abnormal_urinary_bladder	1.07585742
70	MP0002095_abnormal_skin_pigmentation	1.06482677
71	MP0000383_abnormal_hair_follicle	1.06193590
72	MP0001905_abnormal_dopamine_level	1.04631180
73	MP0002693_abnormal_pancreas_physiology	1.04169620
74	MP0002063_abnormal_learning/memory/cond	1.03661605
75	MP0005379_endocrine/exocrine_gland_phen	1.02731923
76	MP0004145_abnormal_muscle_electrophysio	1.01563521
77	MP0008961_abnormal_basal_metabolism	1.00727113
78	MP0001984_abnormal_olfaction	0.95886274
79	MP0003763_abnormal_thymus_physiology	0.95878634
80	MP0002277_abnormal_respiratory_mucosa	0.91739556
81	MP0002234_abnormal_pharynx_morphology	0.91717135
82	MP0008995_early_reproductive_senescence	0.91216796
83	MP0001529_abnormal_vocalization	0.90801777
84	MP0002723_abnormal_immune_serum	0.90622242
85	MP0003718_maternal_effect	0.90262259
86	MP0003878_abnormal_ear_physiology	0.86085345
87	MP0005377_hearing/vestibular/ear_phenot	0.86085345
88	MP0003283_abnormal_digestive_organ	0.85638163
89	MP0001835_abnormal_antigen_presentation	0.85038690
90	MP0005195_abnormal_posterior_eye	0.81591522
91	MP0002752_abnormal_somatic_nervous	0.81588862
92	MP0005410_abnormal_fertilization	0.80356572
93	MP0002734_abnormal_mechanical_nocicepti	0.80284857
94	MP0003698_abnormal_male_reproductive	0.79841526
95	MP0008058_abnormal_DNA_repair	0.79376088
96	MP0002452_abnormal_antigen_presenting	0.78481153
97	MP0002751_abnormal_autonomic_nervous	0.77957071
98	MP0002254_reproductive_system_inflammat	0.77888857
99	MP0004130_abnormal_muscle_cell	0.77678291
100	MP0000026_abnormal_inner_ear	0.77209098

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.63848266
2	Congenital stationary night blindness (HP:0007642)	4.07776487
3	Molar tooth sign on MRI (HP:0002419)	4.01253948
4	Abnormality of midbrain morphology (HP:0002418)	4.01253948
5	Pancreatic fibrosis (HP:0100732)	3.93255497
6	True hermaphroditism (HP:0010459)	3.84703153
7	Nephronophthisis (HP:0000090)	3.30802858
8	Type II lissencephaly (HP:0007260)	3.26212656
9	Attenuation of retinal blood vessels (HP:0007843)	3.24157348
10	Inability to walk (HP:0002540)	3.00060027
11	Abnormality of the renal cortex (HP:0011035)	2.98413465
12	Hyperalaninemia (HP:0003348)	2.97361519
13	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.97361519
14	Abnormality of alanine metabolism (HP:0010916)	2.97361519
15	Chronic hepatic failure (HP:0100626)	2.92057961
16	Concave nail (HP:0001598)	2.90520725
17	Hyperventilation (HP:0002883)	2.90320648
18	Abnormality of the renal medulla (HP:0100957)	2.86162119
19	Gaze-evoked nystagmus (HP:0000640)	2.71832713
20	Medial flaring of the eyebrow (HP:0010747)	2.70295069
21	Cystic liver disease (HP:0006706)	2.69022884
22	Pendular nystagmus (HP:0012043)	2.65855833
23	Progressive cerebellar ataxia (HP:0002073)	2.65326628
24	Abnormal rod and cone electroretinograms (HP:0008323)	2.63228859
25	Genetic anticipation (HP:0003743)	2.62985933
26	Large for gestational age (HP:0001520)	2.56299448
27	IgG deficiency (HP:0004315)	2.52940020
28	Congenital, generalized hypertrichosis (HP:0004540)	2.52742881
29	Furrowed tongue (HP:0000221)	2.48456248
30	Stomach cancer (HP:0012126)	2.46332279
31	Progressive inability to walk (HP:0002505)	2.42983446
32	Clumsiness (HP:0002312)	2.42799999
33	Abolished electroretinogram (ERG) (HP:0000550)	2.42585970
34	Tubular atrophy (HP:0000092)	2.40264112
35	Lissencephaly (HP:0001339)	2.40187669
36	Increased corneal curvature (HP:0100692)	2.32418134
37	Keratoconus (HP:0000563)	2.32418134
38	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.31845191
39	Cerebellar dysplasia (HP:0007033)	2.30360219
40	Sclerocornea (HP:0000647)	2.30348367
41	Protruding tongue (HP:0010808)	2.29087937
42	Renal cortical cysts (HP:0000803)	2.29085096
43	Patellar aplasia (HP:0006443)	2.28286352
44	Decreased central vision (HP:0007663)	2.27870350
45	Abnormality of the pons (HP:0007361)	2.19824179
46	Aplasia/Hypoplasia of the patella (HP:0006498)	2.19562358
47	Hypoplasia of the pons (HP:0012110)	2.18999895
48	Gait imbalance (HP:0002141)	2.18670481
49	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.10260708
50	Broad-based gait (HP:0002136)	2.09216554
51	Congenital primary aphakia (HP:0007707)	2.08587183
52	Anencephaly (HP:0002323)	2.06810288
53	Abnormal drinking behavior (HP:0030082)	2.06793965
54	Polydipsia (HP:0001959)	2.06793965
55	Severe muscular hypotonia (HP:0006829)	2.03473604
56	Absent/shortened dynein arms (HP:0200106)	2.02636088
57	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.02636088
58	Birth length less than 3rd percentile (HP:0003561)	2.02298660
59	Abnormal number of erythroid precursors (HP:0012131)	2.00140801
60	Febrile seizures (HP:0002373)	1.98062034
61	Nephrogenic diabetes insipidus (HP:0009806)	1.97113673
62	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.95246974
63	Male pseudohermaphroditism (HP:0000037)	1.94224904
64	Congenital hepatic fibrosis (HP:0002612)	1.93576437
65	Mitochondrial inheritance (HP:0001427)	1.93459250
66	Agammaglobulinemia (HP:0004432)	1.86025830
67	Postaxial foot polydactyly (HP:0001830)	1.83369847
68	Fair hair (HP:0002286)	1.82675389
69	Recurrent sinusitis (HP:0011108)	1.82337650
70	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.81716895
71	Increased CSF lactate (HP:0002490)	1.80850911
72	Bony spicule pigmentary retinopathy (HP:0007737)	1.80727673
73	3-Methylglutaconic aciduria (HP:0003535)	1.80094651
74	Genital tract atresia (HP:0001827)	1.78082885
75	Chorioretinal atrophy (HP:0000533)	1.77332537
76	Abnormal respiratory epithelium morphology (HP:0012253)	1.76896447
77	Abnormal respiratory motile cilium morphology (HP:0005938)	1.76896447
78	Bile duct proliferation (HP:0001408)	1.74989465
79	Abnormal biliary tract physiology (HP:0012439)	1.74989465
80	Vaginal atresia (HP:0000148)	1.74594372
81	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	1.74320143
82	Panhypogammaglobulinemia (HP:0003139)	1.73922474
83	Ketosis (HP:0001946)	1.73601538
84	Polyuria (HP:0000103)	1.73591805
85	Abnormal ciliary motility (HP:0012262)	1.72992186
86	Abnormal albumin level (HP:0012116)	1.72173845
87	Hypoalbuminemia (HP:0003073)	1.72173845
88	Abnormal delayed hypersensitivity skin test (HP:0002963)	1.71586642
89	Optic disc pallor (HP:0000543)	1.71537712
90	Recurrent bronchitis (HP:0002837)	1.71390390
91	Abnormality of B cell number (HP:0010975)	1.70366702
92	Focal motor seizures (HP:0011153)	1.69611496
93	Colon cancer (HP:0003003)	1.69203468
94	Acute necrotizing encephalopathy (HP:0006965)	1.68904260
95	Ketoacidosis (HP:0001993)	1.67169387
96	Conical tooth (HP:0000698)	1.64960757
97	Methylmalonic aciduria (HP:0012120)	1.64162531
98	Optic nerve hypoplasia (HP:0000609)	1.63425929
99	Thyroiditis (HP:0100646)	1.62965482
100	Hemiparesis (HP:0001269)	1.62797519

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.88038649
2	ADRBK2	3.48031408
3	ZAK	3.27313066
4	TLK1	3.27258473
5	BMPR1B	2.98159400
6	TAOK3	2.88305857
7	INSRR	2.75655071
8	GRK1	2.62050407
9	TXK	2.57730469
10	ACVR1B	2.26608909
11	NUAK1	2.24120622
12	MAP4K2	2.10785980
13	VRK2	1.87763196
14	MAP4K1	1.78924517
15	VRK1	1.75096423
16	WNK4	1.63412020
17	WNK3	1.63314520
18	MAPK13	1.60396665
19	PINK1	1.56148265
20	MUSK	1.50582748
21	DAPK2	1.47750179
22	OXSR1	1.46857172
23	MAPKAPK3	1.45552892
24	CASK	1.27377954
25	ADRBK1	1.22373384
26	SYK	1.18820164
27	BCKDK	1.16029367
28	IKBKB	1.12875271
29	CAMKK2	1.09419631
30	STK39	1.07626895
31	NTRK3	1.05635545
32	PASK	1.02354459
33	MAP3K4	0.99014412
34	PRKCQ	0.98005076
35	TNK2	0.95701857
36	TGFBR1	0.94756001
37	GRK6	0.91517640
38	CAMKK1	0.91098445
39	RPS6KA5	0.90342561
40	ITK	0.86929416
41	KIT	0.85815526
42	PAK3	0.85510118
43	SIK2	0.84226233
44	TEC	0.78320412
45	BRSK2	0.76361599
46	MST4	0.75092465
47	CHUK	0.74920650
48	MAPK15	0.74707939
49	IKBKE	0.74058379
50	MKNK2	0.72828288
51	PTK2B	0.72758768
52	PRKCG	0.72272072
53	WEE1	0.71626138
54	MAP2K2	0.70423894
55	DYRK2	0.64415985
56	TAF1	0.63992390
57	PRKCE	0.63391885
58	MAP2K7	0.63345653
59	TRIM28	0.62824833
60	PRKCI	0.61939612
61	BLK	0.61720213
62	LYN	0.61614923
63	BTK	0.59269647
64	GRK5	0.58231866
65	CSF1R	0.54382873
66	PNCK	0.53983827
67	PIK3CA	0.53424166
68	PKN1	0.53385512
69	IRAK4	0.52797050
70	PRKCH	0.50885257
71	KDR	0.50275457
72	EPHA4	0.50254799
73	CSNK1G2	0.49813530
74	TNIK	0.49708416
75	CSNK1A1L	0.48074617
76	NME1	0.47792504
77	CSNK1G3	0.47313193
78	CAMK1	0.46493837
79	CHEK2	0.46326956
80	FGFR2	0.46192361
81	MAPKAPK5	0.45884142
82	LCK	0.45298137
83	CSNK1G1	0.44584106
84	STK11	0.44388420
85	MAP2K6	0.44357685
86	CAMK2A	0.41353740
87	STK38L	0.40250136
88	NEK2	0.38949382
89	CSNK1A1	0.38728383
90	ATR	0.37657585
91	PIM1	0.36852824
92	PHKG2	0.36449206
93	PHKG1	0.36449206
94	PRKACA	0.35092779
95	MARK1	0.34805630
96	MAP2K1	0.33268081
97	STK3	0.32397183
98	PLK2	0.31387058
99	PRKCZ	0.31162961
100	CSNK1D	0.30826706

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Primary immunodeficiency_Homo sapiens_hsa05340	3.03253783
2	Phototransduction_Homo sapiens_hsa04744	2.82066602
3	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.69465983
4	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.21833980
5	Nitrogen metabolism_Homo sapiens_hsa00910	2.18785283
6	Homologous recombination_Homo sapiens_hsa03440	2.18184587
7	Linoleic acid metabolism_Homo sapiens_hsa00591	2.11231397
8	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.10702202
9	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.08845089
10	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.99584572
11	Butanoate metabolism_Homo sapiens_hsa00650	1.97754611
12	Selenocompound metabolism_Homo sapiens_hsa00450	1.96886098
13	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.95692314
14	Asthma_Homo sapiens_hsa05310	1.95273591
15	Graft-versus-host disease_Homo sapiens_hsa05332	1.94449967
16	Nicotine addiction_Homo sapiens_hsa05033	1.94178317
17	Oxidative phosphorylation_Homo sapiens_hsa00190	1.93682223
18	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.93402205
19	Allograft rejection_Homo sapiens_hsa05330	1.92132552
20	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.89355611
21	RNA polymerase_Homo sapiens_hsa03020	1.89098238
22	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.73824368
23	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.72236995
24	Type I diabetes mellitus_Homo sapiens_hsa04940	1.66848033
25	Fanconi anemia pathway_Homo sapiens_hsa03460	1.56672124
26	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.50807336
27	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.50720857
28	Parkinsons disease_Homo sapiens_hsa05012	1.46048034
29	Taste transduction_Homo sapiens_hsa04742	1.45164211
30	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.40897427
31	Morphine addiction_Homo sapiens_hsa05032	1.39866410
32	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.37683595
33	Caffeine metabolism_Homo sapiens_hsa00232	1.36071522
34	Tryptophan metabolism_Homo sapiens_hsa00380	1.33835990
35	ABC transporters_Homo sapiens_hsa02010	1.33436855
36	Ether lipid metabolism_Homo sapiens_hsa00565	1.30133800
37	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.25115060
38	Basal transcription factors_Homo sapiens_hsa03022	1.25099811
39	Olfactory transduction_Homo sapiens_hsa04740	1.24678672
40	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.21214428
41	RNA degradation_Homo sapiens_hsa03018	1.19382208
42	Huntingtons disease_Homo sapiens_hsa05016	1.01151212
43	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.00258859
44	Peroxisome_Homo sapiens_hsa04146	0.94396451
45	Ribosome_Homo sapiens_hsa03010	0.93842470
46	Cardiac muscle contraction_Homo sapiens_hsa04260	0.93616667
47	Alzheimers disease_Homo sapiens_hsa05010	0.93348001
48	Antigen processing and presentation_Homo sapiens_hsa04612	0.91959073
49	Insulin secretion_Homo sapiens_hsa04911	0.91558939
50	GABAergic synapse_Homo sapiens_hsa04727	0.91389490
51	Sulfur relay system_Homo sapiens_hsa04122	0.90806668
52	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.90783620
53	Serotonergic synapse_Homo sapiens_hsa04726	0.90158963
54	Circadian entrainment_Homo sapiens_hsa04713	0.89125168
55	Alcoholism_Homo sapiens_hsa05034	0.87299688
56	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.85901618
57	Protein export_Homo sapiens_hsa03060	0.85702043
58	Regulation of autophagy_Homo sapiens_hsa04140	0.84529695
59	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.82234634
60	Calcium signaling pathway_Homo sapiens_hsa04020	0.78773333
61	Glutamatergic synapse_Homo sapiens_hsa04724	0.78657340
62	One carbon pool by folate_Homo sapiens_hsa00670	0.78420910
63	Chemical carcinogenesis_Homo sapiens_hsa05204	0.72723358
64	Purine metabolism_Homo sapiens_hsa00230	0.71851701
65	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.70616187
66	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.70488515
67	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.69796226
68	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.67874319
69	Pyrimidine metabolism_Homo sapiens_hsa00240	0.67658734
70	Salivary secretion_Homo sapiens_hsa04970	0.65478775
71	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.59777751
72	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.59407151
73	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.58484194
74	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.57888499
75	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.56551597
76	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.52979786
77	Cholinergic synapse_Homo sapiens_hsa04725	0.52750167
78	Glycerolipid metabolism_Homo sapiens_hsa00561	0.52385546
79	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.52280304
80	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.51819655
81	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.51402523
82	Retinol metabolism_Homo sapiens_hsa00830	0.48987512
83	Rheumatoid arthritis_Homo sapiens_hsa05323	0.48505287
84	Proteasome_Homo sapiens_hsa03050	0.46944285
85	Dopaminergic synapse_Homo sapiens_hsa04728	0.45976143
86	Propanoate metabolism_Homo sapiens_hsa00640	0.44822019
87	Amphetamine addiction_Homo sapiens_hsa05031	0.43516456
88	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.41878678
89	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.41701284
90	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.40770197
91	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.39670287
92	Nucleotide excision repair_Homo sapiens_hsa03420	0.36851493
93	cAMP signaling pathway_Homo sapiens_hsa04024	0.36760729
94	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.35771387
95	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.35638069
96	Metabolic pathways_Homo sapiens_hsa01100	0.35122139
97	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.32301773
98	Base excision repair_Homo sapiens_hsa03410	0.30329059
99	Cocaine addiction_Homo sapiens_hsa05030	0.29447878
100	Sulfur metabolism_Homo sapiens_hsa00920	0.28494845

BCAS4

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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