ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	cell wall macromolecule catabolic process (GO:0016998)	9.14036888
2	cell wall macromolecule metabolic process (GO:0044036)	7.83192864
3	auditory receptor cell differentiation (GO:0042491)	6.88086051
4	acrosome assembly (GO:0001675)	6.47728669
5	rRNA methylation (GO:0031167)	6.47307407
6	cellular extravasation (GO:0045123)	6.41214996
7	rRNA modification (GO:0000154)	5.77511521
8	positive regulation of phosphoprotein phosphatase activity (GO:0032516)	5.72699001
9	positive regulation of inositol phosphate biosynthetic process (GO:0060732)	5.67878709
10	myelin assembly (GO:0032288)	5.34251733
11	positive regulation of uterine smooth muscle contraction (GO:0070474)	5.14217281
12	positive regulation of mast cell degranulation (GO:0043306)	4.81137569
13	positive regulation of mast cell activation involved in immune response (GO:0033008)	4.81137569
14	glomerular visceral epithelial cell development (GO:0072015)	4.77636545
15	regulation of cytokine secretion involved in immune response (GO:0002739)	4.67993714
16	negative regulation of Rho protein signal transduction (GO:0035024)	4.62944076
17	negative regulation of smooth muscle cell migration (GO:0014912)	4.60665538
18	positive regulation of macrophage activation (GO:0043032)	4.56424648
19	positive regulation of actin filament depolymerization (GO:0030836)	4.54075616
20	hair cell differentiation (GO:0035315)	4.48600258
21	phagocytosis, recognition (GO:0006910)	4.45897170
22	regulation of MHC class II biosynthetic process (GO:0045346)	4.41754069
23	phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)	4.29010014
24	Notch signaling involved in heart development (GO:0061314)	4.19035510
25	cAMP catabolic process (GO:0006198)	4.13457720
26	glomerular epithelial cell development (GO:0072310)	4.11401563
27	positive regulation of mast cell activation (GO:0033005)	4.10114894
28	cyclic nucleotide catabolic process (GO:0009214)	4.09953279
29	cardiac right ventricle morphogenesis (GO:0003215)	4.02587909
30	regulation of inositol phosphate biosynthetic process (GO:0010919)	4.01319952
31	transcription from mitochondrial promoter (GO:0006390)	3.99625553
32	negative regulation of stress fiber assembly (GO:0051497)	3.93781759
33	regulation of uterine smooth muscle contraction (GO:0070472)	3.93678397
34	regulation of timing of cell differentiation (GO:0048505)	3.91215477
35	regulation of gene silencing by RNA (GO:0060966)	3.82177320
36	regulation of posttranscriptional gene silencing (GO:0060147)	3.82177320
37	regulation of gene silencing by miRNA (GO:0060964)	3.82177320
38	regulation of cilium movement (GO:0003352)	3.81896704
39	TOR signaling (GO:0031929)	3.81090574
40	negative regulation of actin filament bundle assembly (GO:0032232)	3.70559213
41	positive regulation of smooth muscle cell migration (GO:0014911)	3.69260237
42	ventricular cardiac muscle cell development (GO:0055015)	3.63181135
43	regulation of development, heterochronic (GO:0040034)	3.56207112
44	mitochondrial RNA metabolic process (GO:0000959)	3.55226460
45	regulation of hippo signaling (GO:0035330)	3.52240876
46	negative regulation of cell cycle arrest (GO:0071157)	3.52188619
47	DNA double-strand break processing (GO:0000729)	3.51018818
48	positive regulation of myeloid leukocyte mediated immunity (GO:0002888)	3.50899648
49	corticosteroid receptor signaling pathway (GO:0031958)	3.47734669
50	retinal rod cell development (GO:0046548)	3.41715185
51	negative regulation of axon extension involved in axon guidance (GO:0048843)	3.41021231
52	fibroblast migration (GO:0010761)	3.40310604
53	regulation of DNA damage checkpoint (GO:2000001)	3.39641002
54	phosphorelay signal transduction system (GO:0000160)	3.38086573
55	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.36488594
56	nonmotile primary cilium assembly (GO:0035058)	3.29253685
57	regulation of transcription from RNA polymerase III promoter (GO:0006359)	3.27937817
58	ribosome assembly (GO:0042255)	3.26694784
59	relaxation of smooth muscle (GO:0044557)	3.25120170
60	positive regulation of ERBB signaling pathway (GO:1901186)	3.24993408
61	interkinetic nuclear migration (GO:0022027)	3.18686682
62	inner ear receptor cell differentiation (GO:0060113)	3.18126224
63	positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)	3.17180556
64	sperm-egg recognition (GO:0035036)	3.17180518
65	establishment of viral latency (GO:0019043)	3.13824434
66	positive regulation of leukocyte degranulation (GO:0043302)	3.05140560
67	neuronal stem cell maintenance (GO:0097150)	3.04014851
68	positive regulation of phosphatase activity (GO:0010922)	3.00972617
69	aspartate family amino acid catabolic process (GO:0009068)	2.98773574
70	negative regulation of axon guidance (GO:1902668)	2.98771663
71	branching involved in prostate gland morphogenesis (GO:0060442)	2.98439374
72	positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)	2.94661977
73	vasodilation (GO:0042311)	2.92870839
74	positive regulation of monocyte chemotaxis (GO:0090026)	2.90130019
75	protein polyglutamylation (GO:0018095)	2.87484927
76	indolalkylamine metabolic process (GO:0006586)	2.87414406
77	chondrocyte proliferation (GO:0035988)	2.86061320
78	microtubule anchoring (GO:0034453)	2.84829653
79	cellular response to leptin stimulus (GO:0044320)	2.84468319
80	regulation of response to food (GO:0032095)	2.84018823
81	iron ion import (GO:0097286)	2.83241373
82	positive regulation of dephosphorylation (GO:0035306)	2.81531156
83	positive regulation of neurotransmitter secretion (GO:0001956)	2.79539434
84	replicative senescence (GO:0090399)	2.78785701
85	cilium morphogenesis (GO:0060271)	2.75932124
86	carnitine metabolic process (GO:0009437)	2.75838987
87	ventricular system development (GO:0021591)	2.74466001
88	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	2.74302595
89	negative regulation of lipase activity (GO:0060192)	2.74155401
90	regulation of execution phase of apoptosis (GO:1900117)	2.71204350
91	wound healing, spreading of epidermal cells (GO:0035313)	2.70845862
92	positive regulation of fatty acid transport (GO:2000193)	2.70709017
93	positive regulation of icosanoid secretion (GO:0032305)	2.66967416
94	tRNA aminoacylation for protein translation (GO:0006418)	2.66920728
95	negative regulation of systemic arterial blood pressure (GO:0003085)	2.60239145
96	response to leptin (GO:0044321)	2.57430024
97	female gonad development (GO:0008585)	2.55768970
98	amino acid activation (GO:0043038)	2.55049135
99	tRNA aminoacylation (GO:0043039)	2.55049135
100	cell-cell recognition (GO:0009988)	2.54395900

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GBX2_23144817_ChIP-Seq_PC3_Human	3.81351008
2	VDR_22108803_ChIP-Seq_LS180_Human	3.80901934
3	RBPJ_22232070_ChIP-Seq_NCS_Mouse	3.70567793
4	ZNF274_21170338_ChIP-Seq_K562_Hela	3.09113507
5	FUS_26573619_Chip-Seq_HEK293_Human	2.61317695
6	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.60615027
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.58388431
8	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.56249450
9	EWS_26573619_Chip-Seq_HEK293_Human	2.52332413
10	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.46753099
11	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.29463766
12	TAF15_26573619_Chip-Seq_HEK293_Human	2.21239944
13	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.17523342
14	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.07710978
15	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	2.03351827
16	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.01142445
17	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.97412162
18	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.96894672
19	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.93809017
20	ELK1_19687146_ChIP-ChIP_HELA_Human	1.91543303
21	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.83785883
22	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.80648602
23	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.80140605
24	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.78231877
25	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.75515184
26	P300_19829295_ChIP-Seq_ESCs_Human	1.72181427
27	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.69363726
28	SMAD4_21799915_ChIP-Seq_A2780_Human	1.65368832
29	ER_23166858_ChIP-Seq_MCF-7_Human	1.64995646
30	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.64435958
31	CDX2_22108803_ChIP-Seq_LS180_Human	1.61389634
32	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.59940977
33	CBP_20019798_ChIP-Seq_JUKART_Human	1.56791944
34	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.56791944
35	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.56697828
36	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.54816820
37	BCAT_22108803_ChIP-Seq_LS180_Human	1.53405557
38	IRF1_19129219_ChIP-ChIP_H3396_Human	1.52894781
39	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.49219847
40	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.46337182
41	STAT3_23295773_ChIP-Seq_U87_Human	1.44761513
42	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.43537948
43	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.43431900
44	TP53_16413492_ChIP-PET_HCT116_Human	1.42299866
45	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.41539280
46	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.41330853
47	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.40727560
48	VDR_23849224_ChIP-Seq_CD4+_Human	1.40618720
49	AR_25329375_ChIP-Seq_VCAP_Human	1.40327592
50	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.39950292
51	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.39581179
52	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.38291370
53	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.38191981
54	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.37359686
55	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.35942310
56	TCF4_22108803_ChIP-Seq_LS180_Human	1.33929203
57	TCF4_23295773_ChIP-Seq_U87_Human	1.32480165
58	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.32175705
59	P53_22387025_ChIP-Seq_ESCs_Mouse	1.30830744
60	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	1.29245373
61	MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	1.28629244
62	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.27123780
63	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.26927111
64	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.26860619
65	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.26442033
66	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.25466316
67	RUNX2_22187159_ChIP-Seq_PCA_Human	1.24257287
68	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.24053863
69	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.23214365
70	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.22440986
71	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.22211223
72	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.18266896
73	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.17726290
74	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.16067362
75	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.13755104
76	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.13481916
77	SOX2_19829295_ChIP-Seq_ESCs_Human	1.12848084
78	NANOG_19829295_ChIP-Seq_ESCs_Human	1.12848084
79	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.12074422
80	NR3C1_23031785_ChIP-Seq_PC12_Mouse	1.11573014
81	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.11492026
82	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.10535781
83	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.10048355
84	TBX3_20139965_ChIP-Seq_ESCs_Mouse	1.08118577
85	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.07465373
86	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.07363809
87	BRD4_25478319_ChIP-Seq_HGPS_Human	1.07181094
88	TBX3_20139965_ChIP-Seq_MESCs_Mouse	1.06800601
89	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.06737443
90	TP53_22573176_ChIP-Seq_HFKS_Human	1.06549837
91	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.05195517
92	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.04574037
93	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.04539590
94	SOX2_18555785_Chip-Seq_ESCs_Mouse	1.02252521
95	P300_18555785_Chip-Seq_ESCs_Mouse	1.01967303
96	POU5F1_16153702_ChIP-ChIP_HESCs_Human	0.98248499
97	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.97206117
98	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.96705091
99	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.96705091
100	AR_20517297_ChIP-Seq_VCAP_Human	0.96623502

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003646_muscle_fatigue	4.21697740
2	MP0008789_abnormal_olfactory_epithelium	4.01881241
3	MP0004147_increased_porphyrin_level	3.67530668
4	MP0004272_abnormal_basement_membrane	3.27030074
5	MP0002938_white_spotting	3.23098544
6	MP0001661_extended_life_span	3.16668313
7	MP0005499_abnormal_olfactory_system	2.87939822
8	MP0005394_taste/olfaction_phenotype	2.87939822
9	MP0010030_abnormal_orbit_morphology	2.82546882
10	MP0003195_calcinosis	2.78616341
11	MP0001984_abnormal_olfaction	2.72405474
12	MP0008260_abnormal_autophagy	2.61422516
13	MP0008877_abnormal_DNA_methylation	2.48111151
14	MP0005085_abnormal_gallbladder_physiolo	2.47706273
15	MP0000569_abnormal_digit_pigmentation	2.33016826
16	MP0005551_abnormal_eye_electrophysiolog	2.30767347
17	MP0003567_abnormal_fetal_cardiomyocyte	2.24947655
18	MP0005670_abnormal_white_adipose	2.21682765
19	MP0000516_abnormal_urinary_system	2.16592170
20	MP0005367_renal/urinary_system_phenotyp	2.16592170
21	MP0004133_heterotaxia	1.95858934
22	MP0010234_abnormal_vibrissa_follicle	1.89392363
23	MP0005332_abnormal_amino_acid	1.84400351
24	MP0002876_abnormal_thyroid_physiology	1.82715889
25	MP0000566_synostosis	1.81481173
26	MP0006054_spinal_hemorrhage	1.75521306
27	MP0004215_abnormal_myocardial_fiber	1.62810553
28	MP0003252_abnormal_bile_duct	1.62090002
29	MP0001986_abnormal_taste_sensitivity	1.53809436
30	MP0003566_abnormal_cell_adhesion	1.47428251
31	MP0000749_muscle_degeneration	1.46331258
32	MP0008775_abnormal_heart_ventricle	1.44211064
33	MP0003122_maternal_imprinting	1.43668513
34	MP0004233_abnormal_muscle_weight	1.42534575
35	MP0009046_muscle_twitch	1.42421128
36	MP0003137_abnormal_impulse_conducting	1.41579246
37	MP0005620_abnormal_muscle_contractility	1.32486776
38	MP0009697_abnormal_copulation	1.31432272
39	MP0010329_abnormal_lipoprotein_level	1.30378571
40	MP0000639_abnormal_adrenal_gland	1.21939532
41	MP0003011_delayed_dark_adaptation	1.18779956
42	MP0003656_abnormal_erythrocyte_physiolo	1.16921489
43	MP0002127_abnormal_cardiovascular_syste	1.16476900
44	MP0008875_abnormal_xenobiotic_pharmacok	1.14942030
45	MP0002972_abnormal_cardiac_muscle	1.14549794
46	MP0005075_abnormal_melanosome_morpholog	1.13874575
47	MP0000470_abnormal_stomach_morphology	1.13204591
48	MP0005310_abnormal_salivary_gland	1.13046979
49	MP0004742_abnormal_vestibular_system	1.11897136
50	MP0010094_abnormal_chromosome_stability	1.09707888
51	MP0002233_abnormal_nose_morphology	1.07197673
52	MP0003880_abnormal_central_pattern	1.06333320
53	MP0002160_abnormal_reproductive_system	1.05672385
54	MP0000230_abnormal_systemic_arterial	1.03002894
55	MP0000372_irregular_coat_pigmentation	1.01185155
56	MP0003121_genomic_imprinting	0.98431374
57	MP0000013_abnormal_adipose_tissue	0.97883301
58	MP0006035_abnormal_mitochondrial_morpho	0.97826893
59	MP0001324_abnormal_eye_pigmentation	0.97531325
60	MP0005360_urolithiasis	0.96781178
61	MP0005253_abnormal_eye_physiology	0.96699247
62	MP0005408_hypopigmentation	0.94982061
63	MP0002272_abnormal_nervous_system	0.92921686
64	MP0003718_maternal_effect	0.91997450
65	MP0000428_abnormal_craniofacial_morphol	0.89532572
66	MP0005595_abnormal_vascular_smooth	0.88257530
67	MP0001929_abnormal_gametogenesis	0.88170959
68	MP0003786_premature_aging	0.87715432
69	MP0010678_abnormal_skin_adnexa	0.86007578
70	MP0003698_abnormal_male_reproductive	0.84601577
71	MP0004957_abnormal_blastocyst_morpholog	0.83799952
72	MP0005195_abnormal_posterior_eye	0.83606160
73	MP0001501_abnormal_sleep_pattern	0.83225223
74	MP0001145_abnormal_male_reproductive	0.79137394
75	MP0000653_abnormal_sex_gland	0.78619053
76	MP0005174_abnormal_tail_pigmentation	0.77984437
77	MP0004270_analgesia	0.76374430
78	MP0001485_abnormal_pinna_reflex	0.74363109
79	MP0002928_abnormal_bile_duct	0.74354340
80	MP0002006_tumorigenesis	0.70404396
81	MP0000751_myopathy	0.70011608
82	MP0002734_abnormal_mechanical_nocicepti	0.68393111
83	MP0009384_cardiac_valve_regurgitation	0.68200813
84	MP0002108_abnormal_muscle_morphology	0.67923348
85	MP0002254_reproductive_system_inflammat	0.65605075
86	MP0000427_abnormal_hair_cycle	0.65483299
87	MP0005636_abnormal_mineral_homeostasis	0.64216729
88	MP0002925_abnormal_cardiovascular_devel	0.64211299
89	MP0008995_early_reproductive_senescence	0.63827401
90	MP0003119_abnormal_digestive_system	0.63716989
91	MP0009703_decreased_birth_body	0.63224822
92	MP0002210_abnormal_sex_determination	0.62960747
93	MP0002269_muscular_atrophy	0.60285410
94	MP0001915_intracranial_hemorrhage	0.56395906
95	MP0005410_abnormal_fertilization	0.56301073
96	MP0005395_other_phenotype	0.56216375
97	MP0004264_abnormal_extraembryonic_tissu	0.56051248
98	MP0004085_abnormal_heartbeat	0.55337360
99	MP0002557_abnormal_social/conspecific_i	0.55260514
100	MP0003890_abnormal_embryonic-extraembry	0.54340786

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Short tibia (HP:0005736)	4.64194232
2	Aplasia/Hypoplasia of the tibia (HP:0005772)	4.58162143
3	Retinal dysplasia (HP:0007973)	4.55766478
4	Type II lissencephaly (HP:0007260)	4.48832564
5	Exercise-induced muscle cramps (HP:0003710)	4.44860080
6	Metaphyseal dysplasia (HP:0100255)	4.32479357
7	Bifid tongue (HP:0010297)	4.18642666
8	Hypokinesia (HP:0002375)	4.06805982
9	Chorioretinal atrophy (HP:0000533)	3.95097628
10	Abnormality of midbrain morphology (HP:0002418)	3.60612779
11	Molar tooth sign on MRI (HP:0002419)	3.60612779
12	Hyperalaninemia (HP:0003348)	3.48546723
13	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.48546723
14	Abnormality of alanine metabolism (HP:0010916)	3.48546723
15	Cerebellar dysplasia (HP:0007033)	3.40699109
16	Median cleft lip (HP:0000161)	3.30629290
17	Diminished movement (HP:0002374)	3.28745378
18	Degeneration of anterior horn cells (HP:0002398)	3.22852017
19	Abnormality of the anterior horn cell (HP:0006802)	3.22852017
20	Microglossia (HP:0000171)	3.15281447
21	Gastrointestinal atresia (HP:0002589)	3.07414808
22	Pancreatic fibrosis (HP:0100732)	3.02377563
23	Fair hair (HP:0002286)	3.01734222
24	Increased serum pyruvate (HP:0003542)	2.93355501
25	Abnormal biliary tract morphology (HP:0012440)	2.92584266
26	Genital tract atresia (HP:0001827)	2.92408920
27	Anterior segment dysgenesis (HP:0007700)	2.76748349
28	Pancreatic cysts (HP:0001737)	2.73495981
29	Preaxial foot polydactyly (HP:0001841)	2.71403372
30	Pulmonary artery stenosis (HP:0004415)	2.65835979
31	Gaze-evoked nystagmus (HP:0000640)	2.59092322
32	Congenital, generalized hypertrichosis (HP:0004540)	2.58764263
33	Large for gestational age (HP:0001520)	2.52390657
34	Gait imbalance (HP:0002141)	2.50510697
35	Abnormality of glycolysis (HP:0004366)	2.49487966
36	Abnormality of lateral ventricle (HP:0030047)	2.48269724
37	Papillary thyroid carcinoma (HP:0002895)	2.47994524
38	Medial flaring of the eyebrow (HP:0010747)	2.47605549
39	Congenital primary aphakia (HP:0007707)	2.46027904
40	Abnormality of chromosome stability (HP:0003220)	2.42837504
41	Vertebral arch anomaly (HP:0008438)	2.33322148
42	Neonatal respiratory distress (HP:0002643)	2.31558211
43	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.31299651
44	Chronic hepatic failure (HP:0100626)	2.30388048
45	Abolished electroretinogram (ERG) (HP:0000550)	2.28576067
46	Broad-based gait (HP:0002136)	2.25717123
47	Neoplasm of the adrenal gland (HP:0100631)	2.23295826
48	Squamous cell carcinoma (HP:0002860)	2.22802640
49	Amyotrophic lateral sclerosis (HP:0007354)	2.18994034
50	Thyroid carcinoma (HP:0002890)	2.18615968
51	Poor coordination (HP:0002370)	2.17256151
52	Biliary tract neoplasm (HP:0100574)	2.14802189
53	Prolonged neonatal jaundice (HP:0006579)	2.11643641
54	Neoplasm of the adrenal cortex (HP:0100641)	2.11444138
55	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.11028872
56	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	2.09534660
57	Meckel diverticulum (HP:0002245)	2.08552415
58	Cutaneous melanoma (HP:0012056)	2.08342881
59	Hemiparesis (HP:0001269)	2.07404724
60	Nephrogenic diabetes insipidus (HP:0009806)	2.06095749
61	Mutism (HP:0002300)	2.01581247
62	Abnormality of serum amino acid levels (HP:0003112)	2.00272481
63	Vaginal atresia (HP:0000148)	2.00208265
64	Aplasia/Hypoplasia of the hallux (HP:0008362)	1.99993275
65	Renal hypoplasia (HP:0000089)	1.99062609
66	Hyperventilation (HP:0002883)	1.98328845
67	Hypothermia (HP:0002045)	1.97575664
68	Short hallux (HP:0010109)	1.96764354
69	Cupped ear (HP:0000378)	1.93621680
70	Subcapsular cataract (HP:0000523)	1.93237517
71	Furrowed tongue (HP:0000221)	1.91904964
72	Abnormality of the ileum (HP:0001549)	1.90858623
73	Porencephaly (HP:0002132)	1.88806711
74	Tubulointerstitial nephritis (HP:0001970)	1.88250888
75	Abnormality of the carotid arteries (HP:0005344)	1.88145191
76	Type I transferrin isoform profile (HP:0003642)	1.87985024
77	Abnormality of the lower motor neuron (HP:0002366)	1.87328045
78	Abdominal situs inversus (HP:0003363)	1.82016063
79	Abnormality of abdominal situs (HP:0011620)	1.82016063
80	Abnormality of the renal medulla (HP:0100957)	1.81842953
81	Oculomotor apraxia (HP:0000657)	1.80831468
82	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.80347996
83	Generalized hypopigmentation of hair (HP:0011358)	1.79151281
84	Hematochezia (HP:0002573)	1.79051225
85	Preaxial hand polydactyly (HP:0001177)	1.79005447
86	Absent thumb (HP:0009777)	1.73455186
87	Hemivertebrae (HP:0002937)	1.72762488
88	Confusion (HP:0001289)	1.70523006
89	Atrophy/Degeneration involving motor neurons (HP:0007373)	1.69581888
90	Long nose (HP:0003189)	1.68448791
91	Tubular atrophy (HP:0000092)	1.67250275
92	Impaired proprioception (HP:0010831)	1.67193842
93	Abnormality of DNA repair (HP:0003254)	1.65998717
94	Ectropion (HP:0000656)	1.65343608
95	Menstrual irregularities (HP:0000858)	1.64502631
96	Increased corneal curvature (HP:0100692)	1.64446147
97	Keratoconus (HP:0000563)	1.64446147
98	Abnormality of the renal cortex (HP:0011035)	1.64277179
99	Methylmalonic aciduria (HP:0012120)	1.63952362
100	Gonadotropin excess (HP:0000837)	1.63828792

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TAF1	6.70536230
2	FRK	5.12773579
3	NTRK1	4.12716196
4	EIF2AK3	3.53706064
5	TIE1	3.25277452
6	NTRK2	2.86702056
7	EPHA4	2.69002656
8	WNK3	2.19843177
9	MAP4K2	2.15263834
10	STK39	2.12043369
11	FGFR2	1.79137791
12	OXSR1	1.74538902
13	BRSK2	1.72545764
14	ZAK	1.69212354
15	BMPR1B	1.67219387
16	ARAF	1.57334593
17	KSR2	1.50123657
18	TSSK6	1.46891687
19	MAP3K13	1.45477202
20	LIMK1	1.34413426
21	PDK2	1.34363177
22	PLK2	1.30332547
23	SRPK1	1.29920795
24	WEE1	1.28722948
25	MAP3K2	1.26369107
26	NTRK3	1.24264916
27	BCKDK	1.22426103
28	RAF1	1.21357203
29	PAK3	1.19858057
30	PRKCE	1.19838424
31	PBK	1.18861851
32	MAP3K9	1.17082902
33	KSR1	1.14782754
34	PLK3	1.10732536
35	GRK1	1.10438417
36	EIF2AK1	1.09384957
37	ADRBK2	1.07665036
38	STK11	1.05224486
39	ZAP70	1.04502761
40	MKNK2	1.03617589
41	NUAK1	1.02852427
42	TRIM28	1.00755527
43	BUB1	0.99196582
44	CDK3	0.94484877
45	PLK4	0.93809321
46	MKNK1	0.92978386
47	PINK1	0.92033075
48	EIF2AK2	0.78362801
49	MST4	0.77536756
50	MAPK13	0.75501935
51	PIK3CG	0.68717345
52	ACVR1B	0.65121957
53	MAP3K12	0.63574282
54	PRKAA1	0.63039221
55	TNIK	0.61165735
56	PRKD1	0.60135589
57	PLK1	0.59501199
58	CDK8	0.59154802
59	BRSK1	0.55995912
60	TAOK3	0.55893662
61	ERBB4	0.53765651
62	OBSCN	0.53700513
63	STK3	0.53219214
64	MOS	0.52494254
65	INSRR	0.49311846
66	MAP3K1	0.47193635
67	CDC42BPA	0.46743135
68	TTK	0.46477093
69	NEK1	0.44514268
70	VRK1	0.42733504
71	PRKG1	0.42307346
72	MAPK12	0.40802866
73	CCNB1	0.40629849
74	MAP2K1	0.39919499
75	TGFBR1	0.38646335
76	TYK2	0.37755640
77	ERBB3	0.37490544
78	JAK2	0.36920244
79	TEC	0.36633839
80	MYLK	0.36548339
81	CSNK1A1	0.35906972
82	AKT1	0.35280857
83	MET	0.34292278
84	ATM	0.33336125
85	ABL1	0.32285361
86	STK16	0.31916004
87	AURKB	0.30138068
88	TNK2	0.28817672
89	ADRBK1	0.28202368
90	RPS6KB1	0.27238196
91	SIK3	0.27040470
92	IGF1R	0.24793266
93	ATR	0.24627228
94	EGFR	0.23577293
95	CAMK2A	0.23415554
96	ILK	0.23408325
97	MAPKAPK5	0.21949479
98	PRKCQ	0.21404948
99	KIT	0.20907784
100	PTK2B	0.18784702

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Basal transcription factors_Homo sapiens_hsa03022	4.18808000
2	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	3.17735760
3	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	3.03893582
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.03298427
5	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	2.82839675
6	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.77833607
7	Selenocompound metabolism_Homo sapiens_hsa00450	2.77513112
8	Propanoate metabolism_Homo sapiens_hsa00640	2.56616215
9	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.56171518
10	Homologous recombination_Homo sapiens_hsa03440	2.50648687
11	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.17967109
12	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.13147019
13	Tryptophan metabolism_Homo sapiens_hsa00380	2.12986350
14	ABC transporters_Homo sapiens_hsa02010	2.07262585
15	Protein export_Homo sapiens_hsa03060	1.83038498
16	Sulfur metabolism_Homo sapiens_hsa00920	1.71281242
17	Non-homologous end-joining_Homo sapiens_hsa03450	1.67448066
18	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.56856003
19	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.54567855
20	Linoleic acid metabolism_Homo sapiens_hsa00591	1.52456325
21	Regulation of autophagy_Homo sapiens_hsa04140	1.50669269
22	Histidine metabolism_Homo sapiens_hsa00340	1.48908986
23	Chemical carcinogenesis_Homo sapiens_hsa05204	1.41676898
24	Fanconi anemia pathway_Homo sapiens_hsa03460	1.39550203
25	Pyruvate metabolism_Homo sapiens_hsa00620	1.30361632
26	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.28855175
27	Mismatch repair_Homo sapiens_hsa03430	1.25606351
28	Proteasome_Homo sapiens_hsa03050	1.24709239
29	Butanoate metabolism_Homo sapiens_hsa00650	1.20310491
30	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.18632344
31	Phototransduction_Homo sapiens_hsa04744	1.14069060
32	Parkinsons disease_Homo sapiens_hsa05012	1.13884241
33	Nucleotide excision repair_Homo sapiens_hsa03420	1.13284654
34	Inositol phosphate metabolism_Homo sapiens_hsa00562	1.10125984
35	Fat digestion and absorption_Homo sapiens_hsa04975	1.07996915
36	Fatty acid degradation_Homo sapiens_hsa00071	1.02436086
37	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.00044622
38	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.98743005
39	Glutathione metabolism_Homo sapiens_hsa00480	0.96096608
40	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.95537515
41	Oxidative phosphorylation_Homo sapiens_hsa00190	0.95238992
42	Olfactory transduction_Homo sapiens_hsa04740	0.93272755
43	ECM-receptor interaction_Homo sapiens_hsa04512	0.92450488
44	beta-Alanine metabolism_Homo sapiens_hsa00410	0.90488890
45	RNA degradation_Homo sapiens_hsa03018	0.90456554
46	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.90353111
47	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.88907533
48	Lysine degradation_Homo sapiens_hsa00310	0.88221249
49	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.88211912
50	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.87970873
51	Caffeine metabolism_Homo sapiens_hsa00232	0.87667706
52	Purine metabolism_Homo sapiens_hsa00230	0.86593363
53	Huntingtons disease_Homo sapiens_hsa05016	0.83444182
54	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.83198629
55	Long-term depression_Homo sapiens_hsa04730	0.80090379
56	Ether lipid metabolism_Homo sapiens_hsa00565	0.79020750
57	Retinol metabolism_Homo sapiens_hsa00830	0.77037219
58	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.75435252
59	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.75248806
60	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.74701454
61	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.71765185
62	Serotonergic synapse_Homo sapiens_hsa04726	0.71713169
63	Estrogen signaling pathway_Homo sapiens_hsa04915	0.69773028
64	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.68453517
65	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.65598703
66	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.63628429
67	Mineral absorption_Homo sapiens_hsa04978	0.61050548
68	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.60143528
69	Sphingolipid metabolism_Homo sapiens_hsa00600	0.57860911
70	Fatty acid elongation_Homo sapiens_hsa00062	0.57074701
71	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.56673357
72	Taste transduction_Homo sapiens_hsa04742	0.50983780
73	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.50768794
74	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.50725270
75	Nitrogen metabolism_Homo sapiens_hsa00910	0.50219158
76	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.49828545
77	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.48308041
78	Fatty acid metabolism_Homo sapiens_hsa01212	0.45390516
79	RNA transport_Homo sapiens_hsa03013	0.44379201
80	Glycerolipid metabolism_Homo sapiens_hsa00561	0.44090289
81	Steroid biosynthesis_Homo sapiens_hsa00100	0.43685140
82	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.43643461
83	Alzheimers disease_Homo sapiens_hsa05010	0.42682566
84	p53 signaling pathway_Homo sapiens_hsa04115	0.42414465
85	mRNA surveillance pathway_Homo sapiens_hsa03015	0.42217923
86	RNA polymerase_Homo sapiens_hsa03020	0.41889744
87	Peroxisome_Homo sapiens_hsa04146	0.41768379
88	Salivary secretion_Homo sapiens_hsa04970	0.41457113
89	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.41404155
90	Morphine addiction_Homo sapiens_hsa05032	0.40515119
91	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.40347234
92	Metabolic pathways_Homo sapiens_hsa01100	0.37983341
93	Asthma_Homo sapiens_hsa05310	0.37665372
94	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.35982267
95	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.33592473
96	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.33078845
97	Adherens junction_Homo sapiens_hsa04520	0.32783150
98	PPAR signaling pathway_Homo sapiens_hsa03320	0.31776632
99	Arginine and proline metabolism_Homo sapiens_hsa00330	0.30838751
100	Glioma_Homo sapiens_hsa05214	0.27746747

GTF2F2P1

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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