ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	4.91789596
2	platelet dense granule organization (GO:0060155)	4.62473139
3	response to pheromone (GO:0019236)	4.37422363
4	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.37243151
5	epithelial cilium movement (GO:0003351)	3.92221465
6	cellular ketone body metabolic process (GO:0046950)	3.89818704
7	protein-cofactor linkage (GO:0018065)	3.88175265
8	axoneme assembly (GO:0035082)	3.79086009
9	regulation of cilium movement (GO:0003352)	3.69339816
10	indolalkylamine metabolic process (GO:0006586)	3.68527808
11	tryptophan catabolic process (GO:0006569)	3.63323840
12	indole-containing compound catabolic process (GO:0042436)	3.63323840
13	indolalkylamine catabolic process (GO:0046218)	3.63323840
14	DNA deamination (GO:0045006)	3.57283124
15	ketone body metabolic process (GO:1902224)	3.55600794
16	piRNA metabolic process (GO:0034587)	3.51854090
17	protein polyglutamylation (GO:0018095)	3.49286423
18	protein complex biogenesis (GO:0070271)	3.36730805
19	fucose catabolic process (GO:0019317)	3.33030706
20	L-fucose metabolic process (GO:0042354)	3.33030706
21	L-fucose catabolic process (GO:0042355)	3.33030706
22	negative regulation of telomere maintenance (GO:0032205)	3.27327032
23	preassembly of GPI anchor in ER membrane (GO:0016254)	3.25824801
24	tryptophan metabolic process (GO:0006568)	3.24495897
25	behavioral response to ethanol (GO:0048149)	3.22041158
26	cilium movement (GO:0003341)	3.20694440
27	kidney morphogenesis (GO:0060993)	3.17056804
28	axonemal dynein complex assembly (GO:0070286)	3.17032804
29	multicellular organism reproduction (GO:0032504)	3.14422828
30	water-soluble vitamin biosynthetic process (GO:0042364)	3.13994506
31	respiratory chain complex IV assembly (GO:0008535)	3.04892824
32	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.03634945
33	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.03634945
34	mitochondrial respiratory chain complex assembly (GO:0033108)	3.00782795
35	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.97127034
36	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.96742272
37	NADH dehydrogenase complex assembly (GO:0010257)	2.96742272
38	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.96742272
39	detection of light stimulus involved in visual perception (GO:0050908)	2.96672105
40	detection of light stimulus involved in sensory perception (GO:0050962)	2.96672105
41	cytochrome complex assembly (GO:0017004)	2.88951222
42	regulation of hexokinase activity (GO:1903299)	2.87564983
43	regulation of glucokinase activity (GO:0033131)	2.87564983
44	presynaptic membrane assembly (GO:0097105)	2.87009341
45	cilium or flagellum-dependent cell motility (GO:0001539)	2.86998887
46	mannosylation (GO:0097502)	2.86246226
47	kynurenine metabolic process (GO:0070189)	2.85377966
48	protein localization to cilium (GO:0061512)	2.85203615
49	regulation of action potential (GO:0098900)	2.85140819
50	GPI anchor metabolic process (GO:0006505)	2.82492805
51	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.82401213
52	sperm motility (GO:0030317)	2.81792075
53	DNA methylation involved in gamete generation (GO:0043046)	2.81457313
54	inositol phosphate catabolic process (GO:0071545)	2.81341566
55	neuronal action potential (GO:0019228)	2.81278772
56	regulation of microtubule-based movement (GO:0060632)	2.79892828
57	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.79681734
58	cellular biogenic amine catabolic process (GO:0042402)	2.79636651
59	amine catabolic process (GO:0009310)	2.79636651
60	cilium morphogenesis (GO:0060271)	2.77808493
61	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.76282929
62	indole-containing compound metabolic process (GO:0042430)	2.73779164
63	nonmotile primary cilium assembly (GO:0035058)	2.73474192
64	reflex (GO:0060004)	2.72873414
65	acrosome reaction (GO:0007340)	2.66866230
66	postsynaptic membrane organization (GO:0001941)	2.66794992
67	somite development (GO:0061053)	2.66791063
68	cilium organization (GO:0044782)	2.65543307
69	gamma-aminobutyric acid transport (GO:0015812)	2.64894080
70	pyrimidine nucleobase catabolic process (GO:0006208)	2.64842419
71	cornea development in camera-type eye (GO:0061303)	2.64646701
72	male meiosis (GO:0007140)	2.60724641
73	positive regulation of action potential (GO:0045760)	2.60477440
74	retinal cone cell development (GO:0046549)	2.56446783
75	male meiosis I (GO:0007141)	2.54625945
76	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.54194620
77	inositol phosphate dephosphorylation (GO:0046855)	2.54194620
78	cilium assembly (GO:0042384)	2.53938016
79	GPI anchor biosynthetic process (GO:0006506)	2.53720572
80	RNA destabilization (GO:0050779)	2.53034284
81	ATP synthesis coupled proton transport (GO:0015986)	2.52624350
82	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.52624350
83	ubiquinone metabolic process (GO:0006743)	2.51779090
84	presynaptic membrane organization (GO:0097090)	2.49806468
85	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.49497272
86	intraciliary transport (GO:0042073)	2.47328385
87	nucleobase catabolic process (GO:0046113)	2.46890069
88	photoreceptor cell maintenance (GO:0045494)	2.44846092
89	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.43466331
90	startle response (GO:0001964)	2.43398881
91	cell proliferation in forebrain (GO:0021846)	2.41213999
92	nephron tubule morphogenesis (GO:0072078)	2.41108907
93	nephron epithelium morphogenesis (GO:0072088)	2.41108907
94	phasic smooth muscle contraction (GO:0014821)	2.39265060
95	C-terminal protein lipidation (GO:0006501)	2.38626080
96	ubiquinone biosynthetic process (GO:0006744)	2.38018349
97	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.36300431
98	primary amino compound metabolic process (GO:1901160)	2.36296313
99	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.36092228
100	synaptic transmission, cholinergic (GO:0007271)	2.35787269

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.97412722
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.97194701
3	VDR_22108803_ChIP-Seq_LS180_Human	2.82630595
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.71201111
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.56017913
6	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.51920538
7	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.37944977
8	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.26374612
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.23122166
10	FUS_26573619_Chip-Seq_HEK293_Human	2.18871851
11	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.12586115
12	* CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.10481564
13	IGF1R_20145208_ChIP-Seq_DFB_Human	2.09941398
14	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.97809480
15	P300_19829295_ChIP-Seq_ESCs_Human	1.97409491
16	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.97169552
17	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.92939187
18	TAF15_26573619_Chip-Seq_HEK293_Human	1.87628566
19	EWS_26573619_Chip-Seq_HEK293_Human	1.85572687
20	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.84756100
21	ER_23166858_ChIP-Seq_MCF-7_Human	1.77713394
22	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.76602141
23	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.71855611
24	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.65588332
25	CBP_20019798_ChIP-Seq_JUKART_Human	1.56475788
26	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.56475788
27	TP53_22573176_ChIP-Seq_HFKS_Human	1.56412562
28	BCAT_22108803_ChIP-Seq_LS180_Human	1.55321158
29	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.54212913
30	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.53745207
31	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.50556189
32	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.50342131
33	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.50301363
34	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.48746040
35	IRF1_19129219_ChIP-ChIP_H3396_Human	1.48372103
36	AR_25329375_ChIP-Seq_VCAP_Human	1.48290258
37	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.46748574
38	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.46201604
39	SOX2_19829295_ChIP-Seq_ESCs_Human	1.43861604
40	NANOG_19829295_ChIP-Seq_ESCs_Human	1.43861604
41	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.43701323
42	REST_21632747_ChIP-Seq_MESCs_Mouse	1.43517484
43	SMAD4_21799915_ChIP-Seq_A2780_Human	1.39387770
44	* SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.38886890
45	RNF2_27304074_Chip-Seq_NSC_Mouse	1.38866196
46	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.36695335
47	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.36695335
48	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.36053152
49	* TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.35270862
50	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.34603192
51	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.32047982
52	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.31451814
53	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.31444057
54	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.30941403
55	STAT3_23295773_ChIP-Seq_U87_Human	1.30918466
56	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.30748685
57	MYC_18940864_ChIP-ChIP_HL60_Human	1.30129046
58	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.29013755
59	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.28042720
60	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.27376568
61	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.27213044
62	TCF4_22108803_ChIP-Seq_LS180_Human	1.26533644
63	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.24139648
64	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.23810285
65	TCF4_23295773_ChIP-Seq_U87_Human	1.22238316
66	* KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.20614277
67	NCOR_22424771_ChIP-Seq_293T_Human	1.20140408
68	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.20121276
69	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.18976308
70	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.18424245
71	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.17445741
72	RUNX2_22187159_ChIP-Seq_PCA_Human	1.15967072
73	AR_20517297_ChIP-Seq_VCAP_Human	1.15747771
74	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.15205505
75	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.13684728
76	AR_21572438_ChIP-Seq_LNCaP_Human	1.13396465
77	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.13335136
78	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.13335136
79	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.12316892
80	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.11897614
81	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.11159382
82	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.10387804
83	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.10019726
84	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.08656873
85	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.07527134
86	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.07171995
87	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.07151873
88	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.06466116
89	HTT_18923047_ChIP-ChIP_STHdh_Human	1.05557234
90	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.03979984
91	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.03057952
92	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.02994974
93	HOXB7_26014856_ChIP-Seq_BT474_Human	1.02151398
94	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.02092807
95	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.01260941
96	P53_22387025_ChIP-Seq_ESCs_Mouse	1.00506576
97	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.99961308
98	* MYC_19829295_ChIP-Seq_ESCs_Human	0.99856359
99	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.98416140
100	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.97399212

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003136_yellow_coat_color	2.50131313
2	MP0008877_abnormal_DNA_methylation	2.46912473
3	MP0003195_calcinosis	2.42839171
4	MP0005646_abnormal_pituitary_gland	2.41299955
5	MP0001968_abnormal_touch/_nociception	2.39930812
6	MP0003880_abnormal_central_pattern	2.31935184
7	MP0003646_muscle_fatigue	2.31056722
8	MP0002653_abnormal_ependyma_morphology	2.27577401
9	MP0001986_abnormal_taste_sensitivity	2.18992064
10	MP0002102_abnormal_ear_morphology	2.17374066
11	MP0002837_dystrophic_cardiac_calcinosis	2.17229885
12	MP0002638_abnormal_pupillary_reflex	2.14864425
13	MP0005645_abnormal_hypothalamus_physiol	2.14696027
14	MP0005551_abnormal_eye_electrophysiolog	2.14328196
15	MP0003011_delayed_dark_adaptation	2.05704378
16	MP0008872_abnormal_physiological_respon	2.03801388
17	MP0002876_abnormal_thyroid_physiology	2.02816176
18	MP0006072_abnormal_retinal_apoptosis	2.01094300
19	MP0000372_irregular_coat_pigmentation	1.98923848
20	MP0002736_abnormal_nociception_after	1.98324093
21	MP0009745_abnormal_behavioral_response	1.88511243
22	MP0004885_abnormal_endolymph	1.87918014
23	MP0006292_abnormal_olfactory_placode	1.77451610
24	MP0005084_abnormal_gallbladder_morpholo	1.73965031
25	MP0002272_abnormal_nervous_system	1.72580677
26	MP0005253_abnormal_eye_physiology	1.70721921
27	MP0002234_abnormal_pharynx_morphology	1.66653303
28	MP0001485_abnormal_pinna_reflex	1.58782294
29	MP0006276_abnormal_autonomic_nervous	1.58418755
30	MP0003787_abnormal_imprinting	1.56589135
31	MP0004043_abnormal_pH_regulation	1.55756800
32	MP0009046_muscle_twitch	1.54341162
33	MP0002735_abnormal_chemical_nociception	1.52351176
34	MP0002938_white_spotting	1.49079933
35	MP0008875_abnormal_xenobiotic_pharmacok	1.48320088
36	MP0001486_abnormal_startle_reflex	1.47070243
37	MP0000631_abnormal_neuroendocrine_gland	1.47009997
38	MP0002277_abnormal_respiratory_mucosa	1.46893128
39	MP0001529_abnormal_vocalization	1.45809386
40	MP0004142_abnormal_muscle_tone	1.43995793
41	MP0005174_abnormal_tail_pigmentation	1.41591493
42	MP0002928_abnormal_bile_duct	1.38942065
43	MP0001501_abnormal_sleep_pattern	1.38151152
44	MP0004133_heterotaxia	1.35152399
45	MP0001984_abnormal_olfaction	1.33636985
46	MP0005410_abnormal_fertilization	1.31996263
47	MP0002572_abnormal_emotion/affect_behav	1.31482501
48	MP0003283_abnormal_digestive_organ	1.29963034
49	MP0005085_abnormal_gallbladder_physiolo	1.29509866
50	MP0002822_catalepsy	1.27906067
51	MP0002095_abnormal_skin_pigmentation	1.27515278
52	MP0005379_endocrine/exocrine_gland_phen	1.26870328
53	MP0004742_abnormal_vestibular_system	1.26295098
54	MP0001764_abnormal_homeostasis	1.25489272
55	MP0002557_abnormal_social/conspecific_i	1.24137807
56	MP0001905_abnormal_dopamine_level	1.22592936
57	MP0001970_abnormal_pain_threshold	1.22063039
58	MP0005389_reproductive_system_phenotype	1.20296209
59	MP0002909_abnormal_adrenal_gland	1.19166002
60	MP0008995_early_reproductive_senescence	1.18735028
61	MP0005171_absent_coat_pigmentation	1.18186113
62	MP0002734_abnormal_mechanical_nocicepti	1.14307488
63	MP0002733_abnormal_thermal_nociception	1.14232575
64	MP0004145_abnormal_muscle_electrophysio	1.13323757
65	MP0005075_abnormal_melanosome_morpholog	1.13130293
66	MP0001919_abnormal_reproductive_system	1.11706820
67	MP0002163_abnormal_gland_morphology	1.08849854
68	MP0002160_abnormal_reproductive_system	1.08650300
69	MP0002067_abnormal_sensory_capabilities	1.08524559
70	MP0002064_seizures	1.07864653
71	MP0002138_abnormal_hepatobiliary_system	1.07489063
72	MP0010386_abnormal_urinary_bladder	1.05270985
73	MP0000427_abnormal_hair_cycle	1.04842469
74	MP0005167_abnormal_blood-brain_barrier	1.04698027
75	MP0000015_abnormal_ear_pigmentation	1.04379338
76	MP0003635_abnormal_synaptic_transmissio	1.03216408
77	MP0005377_hearing/vestibular/ear_phenot	1.03011316
78	MP0003878_abnormal_ear_physiology	1.03011316
79	MP0000026_abnormal_inner_ear	1.00924315
80	MP0002063_abnormal_learning/memory/cond	1.00359793
81	MP0003252_abnormal_bile_duct	0.98527150
82	MP0003718_maternal_effect	0.95586488
83	MP0003698_abnormal_male_reproductive	0.95329642
84	MP0005195_abnormal_posterior_eye	0.94848030
85	MP0004147_increased_porphyrin_level	0.94688649
86	MP0005332_abnormal_amino_acid	0.92819914
87	MP0003122_maternal_imprinting	0.91705126
88	MP0009379_abnormal_foot_pigmentation	0.91276955
89	MP0002210_abnormal_sex_determination	0.91112451
90	MP0009780_abnormal_chondrocyte_physiolo	0.90933233
91	MP0004924_abnormal_behavior	0.89533930
92	MP0005386_behavior/neurological_phenoty	0.89533930
93	MP0005423_abnormal_somatic_nervous	0.87497270
94	MP0002282_abnormal_trachea_morphology	0.87474518
95	MP0001929_abnormal_gametogenesis	0.87385856
96	MP0000538_abnormal_urinary_bladder	0.86775687
97	MP0002752_abnormal_somatic_nervous	0.84218016
98	MP0002751_abnormal_autonomic_nervous	0.83561890
99	MP0001963_abnormal_hearing_physiology	0.82829039
100	MP0002184_abnormal_innervation	0.82155221

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.58475690
2	True hermaphroditism (HP:0010459)	4.29223287
3	Pancreatic fibrosis (HP:0100732)	4.03759375
4	Abnormality of midbrain morphology (HP:0002418)	3.91598579
5	Molar tooth sign on MRI (HP:0002419)	3.91598579
6	Congenital stationary night blindness (HP:0007642)	3.77485684
7	Nephronophthisis (HP:0000090)	3.74683617
8	Type II lissencephaly (HP:0007260)	3.17592459
9	Abnormality of the renal medulla (HP:0100957)	3.15734566
10	Medial flaring of the eyebrow (HP:0010747)	3.07569407
11	Abnormality of the renal cortex (HP:0011035)	3.06958302
12	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.02018681
13	Absent/shortened dynein arms (HP:0200106)	3.02018681
14	Abolished electroretinogram (ERG) (HP:0000550)	3.00804646
15	Tubular atrophy (HP:0000092)	2.97179776
16	Attenuation of retinal blood vessels (HP:0007843)	2.86455146
17	Cystic liver disease (HP:0006706)	2.79828065
18	Abnormal respiratory motile cilium morphology (HP:0005938)	2.77117363
19	Abnormal respiratory epithelium morphology (HP:0012253)	2.77117363
20	Congenital sensorineural hearing impairment (HP:0008527)	2.76791288
21	Abnormal rod and cone electroretinograms (HP:0008323)	2.76589113
22	Chronic hepatic failure (HP:0100626)	2.72467001
23	Abnormal drinking behavior (HP:0030082)	2.70229503
24	Polydipsia (HP:0001959)	2.70229503
25	Hypothermia (HP:0002045)	2.63431083
26	Sclerocornea (HP:0000647)	2.56560050
27	Pendular nystagmus (HP:0012043)	2.54977380
28	Abnormal ciliary motility (HP:0012262)	2.50414067
29	Mitochondrial inheritance (HP:0001427)	2.46737532
30	Inability to walk (HP:0002540)	2.43120523
31	Acute necrotizing encephalopathy (HP:0006965)	2.41865046
32	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.40155740
33	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.37553229
34	Abnormal respiratory motile cilium physiology (HP:0012261)	2.36870064
35	Increased CSF lactate (HP:0002490)	2.36384480
36	Congenital, generalized hypertrichosis (HP:0004540)	2.35538515
37	Nephrogenic diabetes insipidus (HP:0009806)	2.30339135
38	Decreased central vision (HP:0007663)	2.29874366
39	Methylmalonic acidemia (HP:0002912)	2.27799269
40	Polyuria (HP:0000103)	2.26763558
41	Progressive macrocephaly (HP:0004481)	2.26542545
42	Gait imbalance (HP:0002141)	2.25199318
43	Anencephaly (HP:0002323)	2.25147831
44	Abnormal biliary tract physiology (HP:0012439)	2.23905244
45	Bile duct proliferation (HP:0001408)	2.23905244
46	Focal motor seizures (HP:0011153)	2.21602147
47	Hyperventilation (HP:0002883)	2.20539877
48	Furrowed tongue (HP:0000221)	2.19251457
49	Congenital primary aphakia (HP:0007707)	2.19186517
50	Keratoconus (HP:0000563)	2.18576500
51	Increased corneal curvature (HP:0100692)	2.18576500
52	Congenital hepatic fibrosis (HP:0002612)	2.16250624
53	Acute encephalopathy (HP:0006846)	2.15901388
54	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.15265555
55	Optic nerve hypoplasia (HP:0000609)	2.15165859
56	Lissencephaly (HP:0001339)	2.14392306
57	Hepatic necrosis (HP:0002605)	2.13738852
58	Hepatocellular necrosis (HP:0001404)	2.13530484
59	Male pseudohermaphroditism (HP:0000037)	2.13426558
60	Large for gestational age (HP:0001520)	2.09186938
61	3-Methylglutaconic aciduria (HP:0003535)	2.06869067
62	Abnormality of alanine metabolism (HP:0010916)	2.05438178
63	Hyperalaninemia (HP:0003348)	2.05438178
64	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.05438178
65	Methylmalonic aciduria (HP:0012120)	2.03645830
66	Renal cortical cysts (HP:0000803)	2.03215302
67	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.02376848
68	Abnormal mitochondria in muscle tissue (HP:0008316)	2.01716664
69	Constricted visual fields (HP:0001133)	2.01507855
70	Occipital encephalocele (HP:0002085)	2.00250292
71	Concave nail (HP:0001598)	1.99357198
72	Septo-optic dysplasia (HP:0100842)	1.97662349
73	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.97158559
74	Hemiparesis (HP:0001269)	1.96891422
75	Ketoacidosis (HP:0001993)	1.96486192
76	Chorioretinal atrophy (HP:0000533)	1.95910190
77	Severe visual impairment (HP:0001141)	1.95853212
78	Retinal dysplasia (HP:0007973)	1.95332020
79	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.94758166
80	Lipid accumulation in hepatocytes (HP:0006561)	1.92901862
81	Bony spicule pigmentary retinopathy (HP:0007737)	1.92730819
82	Gaze-evoked nystagmus (HP:0000640)	1.92359599
83	Abnormality of macular pigmentation (HP:0008002)	1.91840291
84	Tubulointerstitial nephritis (HP:0001970)	1.91739666
85	Postaxial foot polydactyly (HP:0001830)	1.90808801
86	Optic disc pallor (HP:0000543)	1.90497786
87	Short tibia (HP:0005736)	1.88205869
88	Intestinal atresia (HP:0011100)	1.87624686
89	Hyperglycinemia (HP:0002154)	1.87486040
90	Abnormal urine output (HP:0012590)	1.86628804
91	Ketosis (HP:0001946)	1.86531007
92	Cerebellar dysplasia (HP:0007033)	1.86105545
93	Rhinitis (HP:0012384)	1.82861420
94	Postaxial hand polydactyly (HP:0001162)	1.82724274
95	Increased serum lactate (HP:0002151)	1.80577019
96	Progressive inability to walk (HP:0002505)	1.80141482
97	Aplasia/hypoplasia of the uterus (HP:0008684)	1.80108532
98	Genital tract atresia (HP:0001827)	1.79000419
99	Tubulointerstitial abnormality (HP:0001969)	1.77523231
100	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.76038957

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.00380811
2	MAP4K2	3.52263362
3	ADRBK2	3.36064080
4	PINK1	2.81224609
5	BMPR1B	2.62600464
6	TAOK3	2.56403017
7	ZAK	2.52856482
8	GRK1	2.47014468
9	NUAK1	2.39469610
10	WNK4	2.16444758
11	WNK3	2.15031841
12	ACVR1B	2.03186408
13	MAPK13	2.02311031
14	TXK	2.01722277
15	TLK1	1.85457425
16	PNCK	1.83698590
17	STK39	1.82371114
18	INSRR	1.81859709
19	CASK	1.67310555
20	MAP3K4	1.57490325
21	MAPK15	1.54265606
22	BCKDK	1.45835837
23	NTRK3	1.35124466
24	DAPK2	1.30761941
25	VRK1	1.27812996
26	OXSR1	1.26849375
27	DYRK2	1.16989981
28	ADRBK1	1.16798675
29	TNIK	1.14279226
30	VRK2	1.14139883
31	PLK2	1.10714709
32	TRIM28	1.09095226
33	EIF2AK3	1.05983650
34	MAPKAPK3	1.02130953
35	CSNK1G1	1.01190256
36	ERBB3	0.99669125
37	CSNK1G2	0.99373194
38	CCNB1	0.95843728
39	MUSK	0.95379659
40	PRKCE	0.94938439
41	WEE1	0.94924807
42	MARK1	0.91572093
43	PLK4	0.91434206
44	MAP2K7	0.89772469
45	PAK3	0.87643399
46	PHKG1	0.86479766
47	PHKG2	0.86479766
48	TGFBR1	0.86187576
49	STK38L	0.85824904
50	NTRK2	0.84975825
51	PRKCG	0.84172990
52	CSNK1G3	0.83654251
53	MKNK2	0.78455865
54	NLK	0.70396705
55	NME1	0.66660457
56	MAPKAPK5	0.66659086
57	FGFR2	0.66358367
58	PRKCQ	0.65054674
59	CAMKK2	0.63168744
60	MAP2K2	0.62258709
61	BRSK2	0.62084813
62	AKT3	0.61800488
63	MST4	0.60973590
64	PLK3	0.60465527
65	BCR	0.59407823
66	OBSCN	0.57691382
67	GRK7	0.57228817
68	STK11	0.55733279
69	TIE1	0.55422832
70	CSNK1A1L	0.55300203
71	CSNK1A1	0.53427874
72	CAMK2A	0.50504896
73	IKBKB	0.50427236
74	EPHA4	0.50278592
75	TNK2	0.49615221
76	CAMK1	0.49435617
77	PRKACA	0.49266265
78	KIT	0.48943655
79	CDK3	0.48188658
80	SGK2	0.47903944
81	SGK223	0.47767232
82	SGK494	0.47767232
83	PKN1	0.47156338
84	RPS6KA5	0.46972048
85	IKBKE	0.46672953
86	PTK2B	0.44732939
87	TSSK6	0.43647203
88	MAP2K1	0.41857264
89	TAF1	0.41583164
90	PIK3CA	0.40232786
91	MAP2K6	0.38909923
92	MKNK1	0.38215230
93	MARK3	0.37904908
94	TEC	0.36391789
95	MAP2K4	0.35603415
96	PRKCA	0.35129525
97	PRKCI	0.35004919
98	CDK19	0.32356383
99	DYRK1A	0.31498725
100	IGF1R	0.30563698

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.95249696
2	Oxidative phosphorylation_Homo sapiens_hsa00190	2.79510035
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.77328858
4	Phototransduction_Homo sapiens_hsa04744	2.73964193
5	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.63179810
6	Nitrogen metabolism_Homo sapiens_hsa00910	2.48099167
7	Butanoate metabolism_Homo sapiens_hsa00650	2.45949319
8	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.21902315
9	Protein export_Homo sapiens_hsa03060	2.17190422
10	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.11653046
11	Parkinsons disease_Homo sapiens_hsa05012	2.09467409
12	Nicotine addiction_Homo sapiens_hsa05033	2.08934757
13	Linoleic acid metabolism_Homo sapiens_hsa00591	2.00944638
14	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.95677810
15	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.89452265
16	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.76712520
17	Tryptophan metabolism_Homo sapiens_hsa00380	1.69677089
18	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.64580496
19	Caffeine metabolism_Homo sapiens_hsa00232	1.63926925
20	RNA polymerase_Homo sapiens_hsa03020	1.62977092
21	Ether lipid metabolism_Homo sapiens_hsa00565	1.61935547
22	Selenocompound metabolism_Homo sapiens_hsa00450	1.52490874
23	Taste transduction_Homo sapiens_hsa04742	1.46783690
24	Peroxisome_Homo sapiens_hsa04146	1.46761628
25	Olfactory transduction_Homo sapiens_hsa04740	1.45770162
26	Propanoate metabolism_Homo sapiens_hsa00640	1.42403328
27	Basal transcription factors_Homo sapiens_hsa03022	1.40364319
28	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.40093409
29	Huntingtons disease_Homo sapiens_hsa05016	1.39234098
30	Alzheimers disease_Homo sapiens_hsa05010	1.37328612
31	Morphine addiction_Homo sapiens_hsa05032	1.32512048
32	Cardiac muscle contraction_Homo sapiens_hsa04260	1.31659483
33	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.31225925
34	Insulin secretion_Homo sapiens_hsa04911	1.29094436
35	Proteasome_Homo sapiens_hsa03050	1.24843950
36	Fanconi anemia pathway_Homo sapiens_hsa03460	1.23782983
37	Homologous recombination_Homo sapiens_hsa03440	1.23303745
38	Sulfur metabolism_Homo sapiens_hsa00920	1.19074347
39	GABAergic synapse_Homo sapiens_hsa04727	1.13215665
40	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.11016849
41	One carbon pool by folate_Homo sapiens_hsa00670	1.08487716
42	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.08456792
43	Chemical carcinogenesis_Homo sapiens_hsa05204	1.07623790
44	Collecting duct acid secretion_Homo sapiens_hsa04966	1.07393829
45	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.06795541
46	Retinol metabolism_Homo sapiens_hsa00830	1.05390923
47	RNA degradation_Homo sapiens_hsa03018	1.05266696
48	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.03587852
49	Circadian entrainment_Homo sapiens_hsa04713	1.01517787
50	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.94772771
51	Regulation of autophagy_Homo sapiens_hsa04140	0.92905785
52	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.92365715
53	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.91777711
54	Serotonergic synapse_Homo sapiens_hsa04726	0.91449823
55	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.88725419
56	ABC transporters_Homo sapiens_hsa02010	0.87973622
57	Asthma_Homo sapiens_hsa05310	0.85899967
58	Glutamatergic synapse_Homo sapiens_hsa04724	0.85507183
59	Salivary secretion_Homo sapiens_hsa04970	0.83047574
60	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.79262220
61	Ribosome_Homo sapiens_hsa03010	0.75284982
62	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.74283363
63	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.73977278
64	Fatty acid elongation_Homo sapiens_hsa00062	0.70431356
65	Type I diabetes mellitus_Homo sapiens_hsa04940	0.70246338
66	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.69228898
67	Purine metabolism_Homo sapiens_hsa00230	0.67519038
68	Primary immunodeficiency_Homo sapiens_hsa05340	0.67308995
69	Metabolic pathways_Homo sapiens_hsa01100	0.66250468
70	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.65736669
71	Fat digestion and absorption_Homo sapiens_hsa04975	0.65492812
72	Fatty acid degradation_Homo sapiens_hsa00071	0.65109173
73	Calcium signaling pathway_Homo sapiens_hsa04020	0.63420350
74	Dopaminergic synapse_Homo sapiens_hsa04728	0.63232891
75	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.62696560
76	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.58136418
77	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.55429995
78	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.53148634
79	Rheumatoid arthritis_Homo sapiens_hsa05323	0.53005303
80	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.52541749
81	beta-Alanine metabolism_Homo sapiens_hsa00410	0.51450347
82	Glycerolipid metabolism_Homo sapiens_hsa00561	0.50916742
83	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.50466770
84	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.50391858
85	Amphetamine addiction_Homo sapiens_hsa05031	0.49739576
86	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.48998676
87	Fatty acid metabolism_Homo sapiens_hsa01212	0.48545503
88	Steroid biosynthesis_Homo sapiens_hsa00100	0.47336856
89	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.45101433
90	Cocaine addiction_Homo sapiens_hsa05030	0.44742549
91	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.42398063
92	Pyrimidine metabolism_Homo sapiens_hsa00240	0.41818024
93	Sulfur relay system_Homo sapiens_hsa04122	0.40087198
94	Nucleotide excision repair_Homo sapiens_hsa03420	0.39104107
95	Mineral absorption_Homo sapiens_hsa04978	0.38311731
96	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.37313880
97	Cholinergic synapse_Homo sapiens_hsa04725	0.37271129
98	Histidine metabolism_Homo sapiens_hsa00340	0.37193299
99	Long-term depression_Homo sapiens_hsa04730	0.36830976
100	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.35089863

GTF2IRD2P1

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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