ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	negative regulation of telomere maintenance (GO:0032205)	4.17629369
2	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.06346377
3	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.92036591
4	ATP synthesis coupled proton transport (GO:0015986)	3.88157008
5	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.88157008
6	protein complex biogenesis (GO:0070271)	3.81113643
7	ribosomal small subunit assembly (GO:0000028)	3.55182466
8	behavioral response to nicotine (GO:0035095)	3.53495321
9	negative regulation of mast cell activation (GO:0033004)	3.52005488
10	presynaptic membrane assembly (GO:0097105)	3.47997177
11	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.45213929
12	postsynaptic membrane organization (GO:0001941)	3.42290177
13	viral transcription (GO:0019083)	3.40279795
14	presynaptic membrane organization (GO:0097090)	3.40059275
15	translational termination (GO:0006415)	3.39520281
16	cardiovascular system development (GO:0072358)	3.33908591
17	somite development (GO:0061053)	3.32830375
18	ventricular trabecula myocardium morphogenesis (GO:0003222)	3.25722155
19	mitochondrial respiratory chain complex assembly (GO:0033108)	3.24052456
20	replication fork processing (GO:0031297)	3.18933630
21	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	3.16560785
22	peptidyl-histidine modification (GO:0018202)	3.16036588
23	maturation of SSU-rRNA (GO:0030490)	3.13801174
24	prepulse inhibition (GO:0060134)	3.12668049
25	substrate-independent telencephalic tangential migration (GO:0021826)	3.11413453
26	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	3.11413453
27	regulation of respiratory gaseous exchange by neurological system process (GO:0002087)	3.10329927
28	regulation of telomere maintenance via telomerase (GO:0032210)	3.10252136
29	nephron epithelium morphogenesis (GO:0072088)	3.08663737
30	nephron tubule morphogenesis (GO:0072078)	3.08663737
31	cornea development in camera-type eye (GO:0061303)	3.00875852
32	tongue development (GO:0043586)	3.00738632
33	resolution of meiotic recombination intermediates (GO:0000712)	2.99951873
34	cotranslational protein targeting to membrane (GO:0006613)	2.99844227
35	regulation of timing of cell differentiation (GO:0048505)	2.97200222
36	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.95460468
37	protein targeting to ER (GO:0045047)	2.93426366
38	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.91826827
39	respiratory electron transport chain (GO:0022904)	2.90741841
40	spliceosomal complex assembly (GO:0000245)	2.90574547
41	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.89442819
42	NADH dehydrogenase complex assembly (GO:0010257)	2.89442819
43	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.89442819
44	protein neddylation (GO:0045116)	2.89039745
45	electron transport chain (GO:0022900)	2.88327674
46	retinal ganglion cell axon guidance (GO:0031290)	2.86888081
47	cell proliferation in forebrain (GO:0021846)	2.86809197
48	neuronal stem cell maintenance (GO:0097150)	2.85090175
49	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.84711730
50	negative regulation of systemic arterial blood pressure (GO:0003085)	2.84144374
51	DNA double-strand break processing (GO:0000729)	2.83539267
52	epithelial cilium movement (GO:0003351)	2.81899810
53	positive regulation of synaptic transmission, GABAergic (GO:0032230)	2.81091433
54	establishment of protein localization to endoplasmic reticulum (GO:0072599)	2.79924961
55	limb bud formation (GO:0060174)	2.79212860
56	translational elongation (GO:0006414)	2.79157010
57	ribosomal small subunit biogenesis (GO:0042274)	2.78983146
58	otic vesicle formation (GO:0030916)	2.77233311
59	protein localization to endoplasmic reticulum (GO:0070972)	2.76893459
60	dopamine transport (GO:0015872)	2.75825307
61	regulation of respiratory system process (GO:0044065)	2.73574301
62	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.73286219
63	regulation of action potential (GO:0098900)	2.71375502
64	chromatin remodeling at centromere (GO:0031055)	2.71214514
65	auditory behavior (GO:0031223)	2.70470345
66	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.70367415
67	neuron fate determination (GO:0048664)	2.69073818
68	protein polyglutamylation (GO:0018095)	2.68727157
69	regulation of cilium movement (GO:0003352)	2.68587642
70	regulation of telomere maintenance (GO:0032204)	2.67525684
71	ribosomal large subunit biogenesis (GO:0042273)	2.67483365
72	water-soluble vitamin biosynthetic process (GO:0042364)	2.66924592
73	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.65257744
74	behavioral response to ethanol (GO:0048149)	2.65256522
75	protein-cofactor linkage (GO:0018065)	2.63122118
76	chaperone-mediated protein transport (GO:0072321)	2.62205418
77	detection of light stimulus involved in sensory perception (GO:0050962)	2.61469065
78	detection of light stimulus involved in visual perception (GO:0050908)	2.61469065
79	cellular protein complex disassembly (GO:0043624)	2.59063791
80	pyrimidine nucleobase catabolic process (GO:0006208)	2.58866935
81	artery development (GO:0060840)	2.58307548
82	positive regulation of amino acid transport (GO:0051957)	2.58270759
83	regulation of development, heterochronic (GO:0040034)	2.56773644
84	embryonic body morphogenesis (GO:0010172)	2.56549307
85	cytochrome complex assembly (GO:0017004)	2.55132139
86	forebrain neuron differentiation (GO:0021879)	2.53401275
87	sequestering of actin monomers (GO:0042989)	2.53109496
88	negative regulation of synaptic transmission, glutamatergic (GO:0051967)	2.53025919
89	neuronal action potential (GO:0019228)	2.52827136
90	regulation of microtubule-based movement (GO:0060632)	2.51786032
91	heart field specification (GO:0003128)	2.50521270
92	secondary heart field specification (GO:0003139)	2.50521270
93	CENP-A containing nucleosome assembly (GO:0034080)	2.50518484
94	dendritic spine morphogenesis (GO:0060997)	2.49948118
95	nonmotile primary cilium assembly (GO:0035058)	2.49008607
96	heart trabecula morphogenesis (GO:0061384)	2.48693272
97	neuron recognition (GO:0008038)	2.48165956
98	synaptic transmission, dopaminergic (GO:0001963)	2.48123869
99	anterograde axon cargo transport (GO:0008089)	2.47608807
100	eosinophil chemotaxis (GO:0048245)	2.46999781

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	RBPJ_22232070_ChIP-Seq_NCS_Mouse	4.73535635
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.85287507
3	VDR_22108803_ChIP-Seq_LS180_Human	3.70520196
4	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.67467439
5	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.67314891
6	GBX2_23144817_ChIP-Seq_PC3_Human	2.53886136
7	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.44980267
8	TAF15_26573619_Chip-Seq_HEK293_Human	2.44245594
9	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.44176099
10	FUS_26573619_Chip-Seq_HEK293_Human	2.43717719
11	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.42845799
12	ZNF274_21170338_ChIP-Seq_K562_Hela	2.42432159
13	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.39227505
14	EWS_26573619_Chip-Seq_HEK293_Human	2.38905735
15	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.36886691
16	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.22602703
17	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.19187509
18	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.14350654
19	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.13242973
20	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.11813610
21	ER_23166858_ChIP-Seq_MCF-7_Human	1.98481543
22	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.97705784
23	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.94439789
24	P300_19829295_ChIP-Seq_ESCs_Human	1.91556131
25	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.89843690
26	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.88572209
27	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.81360909
28	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.77955695
29	RNF2_27304074_Chip-Seq_NSC_Mouse	1.76101924
30	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.74331538
31	IGF1R_20145208_ChIP-Seq_DFB_Human	1.73800559
32	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.73404878
33	REST_21632747_ChIP-Seq_MESCs_Mouse	1.70181320
34	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.63957169
35	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.61142816
36	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.58932291
37	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.57897963
38	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.56719582
39	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.52501539
40	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.52203079
41	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.46928614
42	MYC_18940864_ChIP-ChIP_HL60_Human	1.45364070
43	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.44985601
44	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.44985601
45	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.44367639
46	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.41638592
47	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.41007016
48	TP53_22573176_ChIP-Seq_HFKS_Human	1.40796064
49	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.39064554
50	AR_25329375_ChIP-Seq_VCAP_Human	1.37026473
51	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.35579028
52	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.33949780
53	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.33491899
54	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.32582974
55	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.32235616
56	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.29428146
57	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.29249295
58	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.28103929
59	CBP_20019798_ChIP-Seq_JUKART_Human	1.28103929
60	AR_21572438_ChIP-Seq_LNCaP_Human	1.26379545
61	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.25463922
62	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.23920157
63	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.22289382
64	SMAD4_21799915_ChIP-Seq_A2780_Human	1.20828582
65	IRF1_19129219_ChIP-ChIP_H3396_Human	1.20777296
66	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.20132185
67	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.18050538
68	NANOG_19829295_ChIP-Seq_ESCs_Human	1.17904686
69	SOX2_19829295_ChIP-Seq_ESCs_Human	1.17904686
70	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.16572314
71	BCAT_22108803_ChIP-Seq_LS180_Human	1.14816240
72	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.14384104
73	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.13430872
74	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.11914100
75	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.11507097
76	ELK1_19687146_ChIP-ChIP_HELA_Human	1.10408500
77	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.08860350
78	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.08537352
79	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.06726616
80	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.06481756
81	STAT3_23295773_ChIP-Seq_U87_Human	1.05845319
82	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.03674843
83	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.03451060
84	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.03331906
85	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.02720522
86	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.02615199
87	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.02272276
88	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.02050056
89	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.01722563
90	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.01722563
91	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.01508962
92	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.01508962
93	TCF4_22108803_ChIP-Seq_LS180_Human	1.01421865
94	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.00932618
95	SOX9_26525672_Chip-Seq_HEART_Mouse	0.99126293
96	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.98996897
97	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.96881554
98	RUNX2_22187159_ChIP-Seq_PCA_Human	0.95448682
99	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.95300918
100	SMAD3_21741376_ChIP-Seq_ESCs_Human	0.94397966

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003880_abnormal_central_pattern	4.70816889
2	MP0003136_yellow_coat_color	3.82503020
3	MP0009379_abnormal_foot_pigmentation	3.79445276
4	MP0000569_abnormal_digit_pigmentation	3.23878486
5	MP0002277_abnormal_respiratory_mucosa	2.67661980
6	MP0006292_abnormal_olfactory_placode	2.52421937
7	MP0005174_abnormal_tail_pigmentation	2.34529162
8	MP0000566_synostosis	2.34115183
9	MP0002822_catalepsy	2.21828472
10	MP0001188_hyperpigmentation	2.13099208
11	MP0005423_abnormal_somatic_nervous	2.07561681
12	MP0002653_abnormal_ependyma_morphology	2.00524022
13	MP0001968_abnormal_touch/_nociception	1.99900121
14	MP0002736_abnormal_nociception_after	1.96698944
15	MP0001485_abnormal_pinna_reflex	1.96260692
16	MP0002938_white_spotting	1.92947729
17	MP0000778_abnormal_nervous_system	1.89627945
18	MP0002272_abnormal_nervous_system	1.88615701
19	MP0001529_abnormal_vocalization	1.83011151
20	MP0002638_abnormal_pupillary_reflex	1.77981631
21	MP0004885_abnormal_endolymph	1.73446837
22	MP0005646_abnormal_pituitary_gland	1.70477155
23	MP0002735_abnormal_chemical_nociception	1.70394119
24	MP0001293_anophthalmia	1.66654794
25	MP0000015_abnormal_ear_pigmentation	1.66370298
26	MP0001984_abnormal_olfaction	1.61221199
27	MP0000631_abnormal_neuroendocrine_gland	1.60507115
28	MP0002837_dystrophic_cardiac_calcinosis	1.60258605
29	MP0003787_abnormal_imprinting	1.60219749
30	MP0004142_abnormal_muscle_tone	1.60159995
31	MP0002282_abnormal_trachea_morphology	1.58813896
32	MP0008877_abnormal_DNA_methylation	1.57283609
33	MP0000049_abnormal_middle_ear	1.56205495
34	MP0004742_abnormal_vestibular_system	1.54969717
35	MP0002095_abnormal_skin_pigmentation	1.53613174
36	MP0009046_muscle_twitch	1.52153374
37	MP0005551_abnormal_eye_electrophysiolog	1.45474571
38	MP0006276_abnormal_autonomic_nervous	1.45252716
39	MP0009745_abnormal_behavioral_response	1.40797810
40	MP0008058_abnormal_DNA_repair	1.39037765
41	MP0002102_abnormal_ear_morphology	1.38981110
42	MP0001986_abnormal_taste_sensitivity	1.36174431
43	MP0000955_abnormal_spinal_cord	1.30586969
44	MP0002234_abnormal_pharynx_morphology	1.27777454
45	MP0008995_early_reproductive_senescence	1.26823899
46	MP0002064_seizures	1.24239819
47	MP0003635_abnormal_synaptic_transmissio	1.22583504
48	MP0000026_abnormal_inner_ear	1.22154720
49	MP0002928_abnormal_bile_duct	1.20229785
50	MP0002734_abnormal_mechanical_nocicepti	1.18069641
51	MP0001905_abnormal_dopamine_level	1.12905140
52	MP0003938_abnormal_ear_development	1.12337689
53	MP0001970_abnormal_pain_threshold	1.11300361
54	MP0008872_abnormal_physiological_respon	1.09876432
55	MP0008789_abnormal_olfactory_epithelium	1.09103936
56	MP0001324_abnormal_eye_pigmentation	1.08690648
57	MP0006072_abnormal_retinal_apoptosis	1.07931914
58	MP0009384_cardiac_valve_regurgitation	1.07803320
59	MP0009053_abnormal_anal_canal	1.07457295
60	MP0002876_abnormal_thyroid_physiology	1.07178217
61	MP0005645_abnormal_hypothalamus_physiol	1.06910952
62	MP0003011_delayed_dark_adaptation	1.04571890
63	MP0002067_abnormal_sensory_capabilities	1.03565242
64	MP0001486_abnormal_startle_reflex	1.02368861
65	MP0003283_abnormal_digestive_organ	1.01087346
66	MP0002557_abnormal_social/conspecific_i	0.97673488
67	MP0002752_abnormal_somatic_nervous	0.97359305
68	MP0004859_abnormal_synaptic_plasticity	0.96994731
69	MP0004133_heterotaxia	0.95969582
70	MP0001764_abnormal_homeostasis	0.95794867
71	MP0002572_abnormal_emotion/affect_behav	0.94599970
72	MP0002163_abnormal_gland_morphology	0.94505808
73	MP0001286_abnormal_eye_development	0.94154060
74	MP0002063_abnormal_learning/memory/cond	0.93788090
75	MP0010386_abnormal_urinary_bladder	0.92619195
76	MP0008875_abnormal_xenobiotic_pharmacok	0.91503170
77	MP0001963_abnormal_hearing_physiology	0.91416503
78	MP0005171_absent_coat_pigmentation	0.91044505
79	MP0002733_abnormal_thermal_nociception	0.90982720
80	MP0003315_abnormal_perineum_morphology	0.90933525
81	MP0003890_abnormal_embryonic-extraembry	0.90641261
82	MP0004924_abnormal_behavior	0.90508421
83	MP0005386_behavior/neurological_phenoty	0.90508421
84	MP0002138_abnormal_hepatobiliary_system	0.90375431
85	MP0005195_abnormal_posterior_eye	0.90143918
86	MP0003121_genomic_imprinting	0.89535412
87	MP0005084_abnormal_gallbladder_morpholo	0.89362296
88	MP0002882_abnormal_neuron_morphology	0.88006500
89	MP0002184_abnormal_innervation	0.87916196
90	MP0000372_irregular_coat_pigmentation	0.85265698
91	MP0004145_abnormal_muscle_electrophysio	0.83395062
92	MP0003755_abnormal_palate_morphology	0.82509818
93	MP0009250_abnormal_appendicular_skeleto	0.82260892
94	MP0002233_abnormal_nose_morphology	0.82003096
95	MP0002177_abnormal_outer_ear	0.81243714
96	MP0002751_abnormal_autonomic_nervous	0.80594627
97	MP0002160_abnormal_reproductive_system	0.80158081
98	MP0005187_abnormal_penis_morphology	0.78912136
99	MP0003122_maternal_imprinting	0.77376701
100	MP0005394_taste/olfaction_phenotype	0.75339454

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Septo-optic dysplasia (HP:0100842)	3.48781576
2	Stenosis of the external auditory canal (HP:0000402)	3.46383635
3	Maternal diabetes (HP:0009800)	3.27404328
4	Progressive cerebellar ataxia (HP:0002073)	3.23130437
5	Rib fusion (HP:0000902)	3.19000416
6	Oligodactyly (hands) (HP:0001180)	3.09879765
7	Anophthalmia (HP:0000528)	3.09762640
8	Aplasia/Hypoplasia of the sacrum (HP:0008517)	3.06574759
9	Focal motor seizures (HP:0011153)	3.00730176
10	Atonic seizures (HP:0010819)	2.99287639
11	True hermaphroditism (HP:0010459)	2.95999828
12	Hip dysplasia (HP:0001385)	2.90807038
13	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	2.85648128
14	Absent/shortened dynein arms (HP:0200106)	2.82613931
15	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.82613931
16	Pancreatic fibrosis (HP:0100732)	2.82519753
17	Esophageal atresia (HP:0002032)	2.82146308
18	Abnormality of the phalanges of the 5th finger (HP:0004213)	2.81087939
19	Pancreatic cysts (HP:0001737)	2.78998736
20	11 pairs of ribs (HP:0000878)	2.75263521
21	Oligodactyly (HP:0012165)	2.74805801
22	Medial flaring of the eyebrow (HP:0010747)	2.74517276
23	Acute necrotizing encephalopathy (HP:0006965)	2.73878833
24	Congenital stationary night blindness (HP:0007642)	2.73490392
25	Hypothermia (HP:0002045)	2.71310267
26	Abnormality of cells of the erythroid lineage (HP:0012130)	2.70222164
27	Nephronophthisis (HP:0000090)	2.69940081
28	Reticulocytopenia (HP:0001896)	2.68174710
29	Focal seizures (HP:0007359)	2.67234263
30	Abnormal mitochondria in muscle tissue (HP:0008316)	2.66144482
31	Split foot (HP:0001839)	2.65780479
32	Mitochondrial inheritance (HP:0001427)	2.65722344
33	Increased CSF lactate (HP:0002490)	2.62549074
34	Sclerocornea (HP:0000647)	2.62495894
35	Abnormal rod and cone electroretinograms (HP:0008323)	2.58628782
36	Limb dystonia (HP:0002451)	2.56868744
37	Abnormality of the diencephalon (HP:0010662)	2.56756411
38	Supernumerary spleens (HP:0009799)	2.54368769
39	Hepatic necrosis (HP:0002605)	2.41031374
40	Symphalangism affecting the phalanges of the hand (HP:0009773)	2.39960845
41	Thyroid-stimulating hormone excess (HP:0002925)	2.37045950
42	Absent thumb (HP:0009777)	2.36077712
43	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.35810258
44	Dialeptic seizures (HP:0011146)	2.34822117
45	Progressive macrocephaly (HP:0004481)	2.34043745
46	Down-sloping shoulders (HP:0200021)	2.30646130
47	Abnormal ciliary motility (HP:0012262)	2.26391970
48	Absent septum pellucidum (HP:0001331)	2.21487815
49	Renal Fanconi syndrome (HP:0001994)	2.20900566
50	Optic nerve hypoplasia (HP:0000609)	2.20777602
51	Hepatocellular necrosis (HP:0001404)	2.19058757
52	Anencephaly (HP:0002323)	2.19007879
53	Pendular nystagmus (HP:0012043)	2.17435098
54	Absence seizures (HP:0002121)	2.16496865
55	Gastrointestinal atresia (HP:0002589)	2.13590025
56	Ulnar claw (HP:0001178)	2.11952383
57	Optic disc pallor (HP:0000543)	2.11544903
58	Acute encephalopathy (HP:0006846)	2.09775358
59	Gait imbalance (HP:0002141)	2.09719705
60	Increased hepatocellular lipid droplets (HP:0006565)	2.09202417
61	Midline defect of the nose (HP:0004122)	2.08342095
62	Missing ribs (HP:0000921)	2.07997423
63	Febrile seizures (HP:0002373)	2.05392488
64	Abnormality of the renal medulla (HP:0100957)	2.03398675
65	Synostosis involving the elbow (HP:0003938)	2.02233068
66	Humeroradial synostosis (HP:0003041)	2.02233068
67	Colon cancer (HP:0003003)	2.00896533
68	Abnormal respiratory epithelium morphology (HP:0012253)	2.00776102
69	Abnormal respiratory motile cilium morphology (HP:0005938)	2.00776102
70	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.00563348
71	Tubulointerstitial nephritis (HP:0001970)	1.99695519
72	Macrocytic anemia (HP:0001972)	1.96102683
73	Abnormal number of erythroid precursors (HP:0012131)	1.95679608
74	Tubular atrophy (HP:0000092)	1.95528359
75	Molar tooth sign on MRI (HP:0002419)	1.95461547
76	Abnormality of midbrain morphology (HP:0002418)	1.95461547
77	Nephrogenic diabetes insipidus (HP:0009806)	1.95192765
78	Elevated erythrocyte sedimentation rate (HP:0003565)	1.91651292
79	Congenital primary aphakia (HP:0007707)	1.91555956
80	Abnormal respiratory motile cilium physiology (HP:0012261)	1.91527164
81	Generalized tonic-clonic seizures (HP:0002069)	1.89805152
82	Confusion (HP:0001289)	1.86004689
83	Congenital, generalized hypertrichosis (HP:0004540)	1.85247632
84	Male pseudohermaphroditism (HP:0000037)	1.83359974
85	Median cleft lip (HP:0000161)	1.77975323
86	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.77873560
87	Exertional dyspnea (HP:0002875)	1.76712535
88	Shawl scrotum (HP:0000049)	1.74760291
89	Genital tract atresia (HP:0001827)	1.74736457
90	Lipid accumulation in hepatocytes (HP:0006561)	1.72479641
91	Postaxial hand polydactyly (HP:0001162)	1.71280939
92	Hypoplastic pelvis (HP:0008839)	1.70857141
93	Disproportionate short-trunk short stature (HP:0003521)	1.70431500
94	3-Methylglutaconic aciduria (HP:0003535)	1.70400135
95	Severe Myopia (HP:0011003)	1.70225217
96	Abnormal number of incisors (HP:0011064)	1.70202545
97	Increased serum lactate (HP:0002151)	1.68926982
98	Vaginal atresia (HP:0000148)	1.68689145
99	Abnormality of renal resorption (HP:0011038)	1.68680255
100	Myokymia (HP:0002411)	1.66727642

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	3.36303114
2	EPHB2	2.84531955
3	ZAK	2.57536458
4	BMPR1B	2.54044174
5	TLK1	2.53483632
6	WNK3	2.51484846
7	WEE1	2.46428270
8	PNCK	2.44412758
9	WNK4	2.42412360
10	TNIK	2.35219687
11	CASK	2.27971508
12	DYRK2	2.06239490
13	STK39	1.96982167
14	BCKDK	1.68264267
15	MARK1	1.62410242
16	MKNK2	1.58505168
17	GRK1	1.58472959
18	ADRBK2	1.55153370
19	VRK1	1.50086767
20	CAMK1D	1.46515697
21	PRKCG	1.40704948
22	CAMKK2	1.38594742
23	MAPK15	1.36257065
24	BUB1	1.34268930
25	PLK4	1.34218513
26	MAPK13	1.33927858
27	NTRK2	1.33634838
28	FGFR2	1.32572883
29	ERBB3	1.30023585
30	CAMK1G	1.29775230
31	PINK1	1.25066747
32	MAP3K4	1.24238774
33	STK24	1.23488321
34	MAPKAPK5	1.14817466
35	DYRK3	1.13142550
36	PLK3	1.12723808
37	PHKG1	1.09988510
38	PHKG2	1.09988510
39	MKNK1	1.09571536
40	EPHA4	1.08773772
41	PLK2	1.04095476
42	PKN1	1.00933300
43	MST4	1.00557177
44	CCNB1	1.00013461
45	MAP3K9	0.99850448
46	PRKCE	0.97661706
47	STK3	0.94903210
48	VRK2	0.91893692
49	TGFBR1	0.90515052
50	MAP3K12	0.90443394
51	NUAK1	0.89629204
52	WNK1	0.88386257
53	PAK3	0.86605598
54	PLK1	0.84648002
55	CDK3	0.80998000
56	EIF2AK2	0.78965555
57	ABL2	0.77054217
58	TTK	0.75735730
59	MAP4K2	0.74724402
60	BRSK2	0.74084367
61	MINK1	0.72492728
62	BLK	0.71929449
63	CSNK1G2	0.71704187
64	ADRBK1	0.71290484
65	CAMK1	0.69316800
66	IRAK1	0.68881862
67	PIK3CA	0.67758401
68	CAMK2A	0.67606253
69	CSNK1E	0.64527294
70	ACVR1B	0.60326302
71	STK38L	0.59118217
72	TSSK6	0.58583880
73	CDC7	0.56934911
74	STK11	0.55848082
75	SRPK1	0.55685230
76	PRKG1	0.54732768
77	INSRR	0.53705032
78	OXSR1	0.53643575
79	MAP2K4	0.53047076
80	CHEK2	0.51907770
81	CSNK1G3	0.50588981
82	CAMK2B	0.48898682
83	NTRK3	0.48702861
84	PRKCZ	0.45987735
85	MAP2K7	0.45923680
86	PRKACA	0.45806249
87	DYRK1A	0.44771375
88	PAK2	0.44152708
89	MAP2K6	0.40382138
90	TAOK3	0.39595674
91	CSNK1G1	0.38839070
92	PDK2	0.38737152
93	ERBB2	0.38568479
94	NEK2	0.38496303
95	DYRK1B	0.38444051
96	RPS6KA5	0.38232182
97	TEC	0.38071098
98	TIE1	0.37998707
99	TAOK2	0.34683129
100	CSNK2A1	0.34209267

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.90969035
2	Ribosome_Homo sapiens_hsa03010	3.73380601
3	Parkinsons disease_Homo sapiens_hsa05012	3.47145047
4	Protein export_Homo sapiens_hsa03060	3.38048847
5	Nicotine addiction_Homo sapiens_hsa05033	2.76630779
6	Phototransduction_Homo sapiens_hsa04744	2.38697174
7	Homologous recombination_Homo sapiens_hsa03440	2.33817690
8	Cardiac muscle contraction_Homo sapiens_hsa04260	2.21733731
9	Huntingtons disease_Homo sapiens_hsa05016	2.13761680
10	Alzheimers disease_Homo sapiens_hsa05010	2.12157382
11	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.88614672
12	Asthma_Homo sapiens_hsa05310	1.86290388
13	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.79319499
14	Cocaine addiction_Homo sapiens_hsa05030	1.77339046
15	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.73018216
16	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.72121114
17	Proteasome_Homo sapiens_hsa03050	1.70447131
18	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.66232531
19	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.65703622
20	Fanconi anemia pathway_Homo sapiens_hsa03460	1.61170382
21	Basal transcription factors_Homo sapiens_hsa03022	1.60718694
22	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.47851365
23	Collecting duct acid secretion_Homo sapiens_hsa04966	1.47105851
24	Sulfur relay system_Homo sapiens_hsa04122	1.38204720
25	RNA polymerase_Homo sapiens_hsa03020	1.31542261
26	RNA degradation_Homo sapiens_hsa03018	1.25728893
27	Linoleic acid metabolism_Homo sapiens_hsa00591	1.17501213
28	Amphetamine addiction_Homo sapiens_hsa05031	1.15162309
29	Base excision repair_Homo sapiens_hsa03410	1.14410691
30	GABAergic synapse_Homo sapiens_hsa04727	1.14372854
31	Basal cell carcinoma_Homo sapiens_hsa05217	1.12339333
32	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.11502852
33	Taste transduction_Homo sapiens_hsa04742	1.09736857
34	Butanoate metabolism_Homo sapiens_hsa00650	1.07518847
35	Morphine addiction_Homo sapiens_hsa05032	1.07457349
36	Rheumatoid arthritis_Homo sapiens_hsa05323	1.05073312
37	Propanoate metabolism_Homo sapiens_hsa00640	1.04869133
38	Nitrogen metabolism_Homo sapiens_hsa00910	1.03488784
39	Glutamatergic synapse_Homo sapiens_hsa04724	1.03390476
40	Allograft rejection_Homo sapiens_hsa05330	1.02092658
41	Fatty acid elongation_Homo sapiens_hsa00062	1.01889354
42	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.96228183
43	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.93643908
44	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.91915807
45	Nucleotide excision repair_Homo sapiens_hsa03420	0.91718555
46	Graft-versus-host disease_Homo sapiens_hsa05332	0.90674760
47	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.89074263
48	Type I diabetes mellitus_Homo sapiens_hsa04940	0.88926788
49	Dopaminergic synapse_Homo sapiens_hsa04728	0.87756153
50	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.87354590
51	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.87088990
52	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.86740972
53	Mismatch repair_Homo sapiens_hsa03430	0.86019569
54	Caffeine metabolism_Homo sapiens_hsa00232	0.85132271
55	Spliceosome_Homo sapiens_hsa03040	0.84203763
56	Insulin secretion_Homo sapiens_hsa04911	0.82935407
57	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.80908655
58	Notch signaling pathway_Homo sapiens_hsa04330	0.80236329
59	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.78681935
60	Serotonergic synapse_Homo sapiens_hsa04726	0.77944262
61	Ether lipid metabolism_Homo sapiens_hsa00565	0.77126668
62	Circadian entrainment_Homo sapiens_hsa04713	0.76100222
63	One carbon pool by folate_Homo sapiens_hsa00670	0.75539984
64	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.74747711
65	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.73757194
66	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.72566109
67	Olfactory transduction_Homo sapiens_hsa04740	0.72108215
68	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.71188015
69	Steroid biosynthesis_Homo sapiens_hsa00100	0.69975079
70	Regulation of autophagy_Homo sapiens_hsa04140	0.68342994
71	Axon guidance_Homo sapiens_hsa04360	0.67710888
72	Pyrimidine metabolism_Homo sapiens_hsa00240	0.65579240
73	Folate biosynthesis_Homo sapiens_hsa00790	0.65161760
74	Chemical carcinogenesis_Homo sapiens_hsa05204	0.63876581
75	Tryptophan metabolism_Homo sapiens_hsa00380	0.62162797
76	Peroxisome_Homo sapiens_hsa04146	0.61903445
77	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.59448988
78	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.57454052
79	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.56116991
80	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.55200382
81	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.54023612
82	Alcoholism_Homo sapiens_hsa05034	0.52250756
83	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.52201624
84	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.51380299
85	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.49364364
86	Metabolic pathways_Homo sapiens_hsa01100	0.49319709
87	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.47615395
88	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.45472722
89	cAMP signaling pathway_Homo sapiens_hsa04024	0.43788007
90	Purine metabolism_Homo sapiens_hsa00230	0.40890739
91	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.39599479
92	Cholinergic synapse_Homo sapiens_hsa04725	0.39246634
93	Retinol metabolism_Homo sapiens_hsa00830	0.38666560
94	Oocyte meiosis_Homo sapiens_hsa04114	0.38182357
95	Wnt signaling pathway_Homo sapiens_hsa04310	0.37115600
96	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.36693118
97	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.36499951
98	Phagosome_Homo sapiens_hsa04145	0.35712843
99	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.33771514
100	Calcium signaling pathway_Homo sapiens_hsa04020	0.32814371

GTF2IRD1P1

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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