ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	hemidesmosome assembly (GO:0031581)	5.41342784
2	cell adhesion mediated by integrin (GO:0033627)	5.08501771
3	protein localization to endosome (GO:0036010)	4.61797147
4	skin morphogenesis (GO:0043589)	4.50923120
5	cell-substrate junction assembly (GO:0007044)	4.43507090
6	COPI coating of Golgi vesicle (GO:0048205)	4.13674147
7	Golgi transport vesicle coating (GO:0048200)	4.13674147
8	nuclear pore complex assembly (GO:0051292)	3.95093919
9	paraxial mesoderm development (GO:0048339)	3.76677726
10	adherens junction assembly (GO:0034333)	3.74057716
11	mesodermal cell differentiation (GO:0048333)	3.72776175
12	convergent extension (GO:0060026)	3.70984792
13	hypotonic response (GO:0006971)	3.67203659
14	focal adhesion assembly (GO:0048041)	3.65085703
15	cell-substrate adherens junction assembly (GO:0007045)	3.65085703
16	endodermal cell differentiation (GO:0035987)	3.61878959
17	germ cell migration (GO:0008354)	3.61387723
18	epithelial cell-cell adhesion (GO:0090136)	3.54359433
19	maintenance of protein localization in endoplasmic reticulum (GO:0035437)	3.51077115
20	basement membrane organization (GO:0071711)	3.50829399
21	cytoskeletal anchoring at plasma membrane (GO:0007016)	3.38545649
22	desmosome organization (GO:0002934)	3.38034212
23	nuclear pore organization (GO:0006999)	3.35562084
24	planar cell polarity pathway involved in neural tube closure (GO:0090179)	3.34888982
25	protein retention in ER lumen (GO:0006621)	3.28157398
26	hippo signaling (GO:0035329)	3.25549229
27	positive regulation of blood vessel endothelial cell migration (GO:0043536)	3.25412187
28	substrate-dependent cell migration (GO:0006929)	3.21920452
29	regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)	3.18649901
30	endothelial cell morphogenesis (GO:0001886)	3.12742372
31	wound healing, spreading of epidermal cells (GO:0035313)	3.08836343
32	collagen fibril organization (GO:0030199)	3.04890351
33	tooth mineralization (GO:0034505)	3.02160854
34	barbed-end actin filament capping (GO:0051016)	3.01352793
35	regulation of early endosome to late endosome transport (GO:2000641)	3.00488227
36	dichotomous subdivision of an epithelial terminal unit (GO:0060600)	2.99291153
37	membrane protein ectodomain proteolysis (GO:0006509)	2.94928345
38	positive regulation of endothelial cell apoptotic process (GO:2000353)	2.92469003
39	regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)	2.92041378
40	chondrocyte proliferation (GO:0035988)	2.90677995
41	pore complex assembly (GO:0046931)	2.88239901
42	stress fiber assembly (GO:0043149)	2.84816574
43	cell migration involved in sprouting angiogenesis (GO:0002042)	2.81006483
44	embryonic process involved in female pregnancy (GO:0060136)	2.80264003
45	wound healing, spreading of cells (GO:0044319)	2.76718221
46	heparan sulfate proteoglycan biosynthetic process (GO:0015012)	2.76575336
47	regulation of axon extension involved in axon guidance (GO:0048841)	2.76048543
48	vascular endothelial growth factor signaling pathway (GO:0038084)	2.69576332
49	negative regulation of anoikis (GO:2000811)	2.67796219
50	retina vasculature morphogenesis in camera-type eye (GO:0061299)	2.65094188
51	regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	2.64082534
52	vascular endothelial growth factor receptor signaling pathway (GO:0048010)	2.62934972
53	negative regulation of chondrocyte differentiation (GO:0032331)	2.62088557
54	mammary gland epithelial cell proliferation (GO:0033598)	2.61848967
55	regulation of transforming growth factor beta1 production (GO:0032908)	2.60071342
56	activation of Rac GTPase activity (GO:0032863)	2.59584452
57	semaphorin-plexin signaling pathway (GO:0071526)	2.58978042
58	regulation of RNA export from nucleus (GO:0046831)	2.58933682
59	retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	2.57904888
60	endocytic recycling (GO:0032456)	2.57879343
61	regulation of water loss via skin (GO:0033561)	2.56070468
62	collagen metabolic process (GO:0032963)	2.55757263
63	regulation of integrin activation (GO:0033623)	2.54902049
64	DNA unwinding involved in DNA replication (GO:0006268)	2.54728158
65	cell junction assembly (GO:0034329)	2.52567800
66	membrane raft organization (GO:0031579)	2.51885322
67	glomerular visceral epithelial cell development (GO:0072015)	2.51062514
68	blood vessel endothelial cell migration (GO:0043534)	2.49993420
69	negative regulation of cartilage development (GO:0061037)	2.49509678
70	regulation of hippo signaling (GO:0035330)	2.49139041
71	protein localization to cell surface (GO:0034394)	2.45505059
72	cellular response to vitamin (GO:0071295)	2.45210033
73	regulation of nucleobase-containing compound transport (GO:0032239)	2.44128241
74	peptidyl-proline hydroxylation (GO:0019511)	2.43622497
75	branching involved in mammary gland duct morphogenesis (GO:0060444)	2.43475608
76	regulation of branching involved in salivary gland morphogenesis (GO:0060693)	2.43026695
77	Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	2.42762952
78	endoplasmic reticulum unfolded protein response (GO:0030968)	2.42755598
79	vesicle coating (GO:0006901)	2.42225511
80	regulation of glucocorticoid metabolic process (GO:0031943)	2.41151576
81	peptidyl-lysine dimethylation (GO:0018027)	2.40452231
82	positive regulation of axon extension (GO:0045773)	2.40431789
83	hyaluronan catabolic process (GO:0030214)	2.40111057
84	notochord development (GO:0030903)	2.39701242
85	positive regulation of calcium ion import (GO:0090280)	2.39555222
86	bone trabecula formation (GO:0060346)	2.39313256
87	insulin-like growth factor receptor signaling pathway (GO:0048009)	2.38981737
88	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	2.38785144
89	regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	2.38334590
90	extracellular matrix disassembly (GO:0022617)	2.38308663
91	collagen catabolic process (GO:0030574)	2.38216874
92	multicellular organismal macromolecule metabolic process (GO:0044259)	2.37812795
93	protein hydroxylation (GO:0018126)	2.37706578
94	regulation of NFAT protein import into nucleus (GO:0051532)	2.37347472
95	mesoderm formation (GO:0001707)	2.37056809
96	regulation of establishment of planar polarity (GO:0090175)	2.36883773
97	gap junction assembly (GO:0016264)	2.36841204
98	apoptotic cell clearance (GO:0043277)	2.36780807
99	cochlea morphogenesis (GO:0090103)	2.36697896
100	cellular protein complex localization (GO:0034629)	2.36234404

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TP63_17297297_ChIP-ChIP_HaCaT_Human	5.91100917
2	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	3.82926874
3	RARG_19884340_ChIP-ChIP_MEFs_Mouse	3.19269262
4	EGR1_19374776_ChIP-ChIP_THP-1_Human	3.01542103
5	CLOCK_20551151_ChIP-Seq_293T_Human	2.92613716
6	E2F7_22180533_ChIP-Seq_HELA_Human	2.84403859
7	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	2.83701505
8	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	2.82438845
9	ELK3_25401928_ChIP-Seq_HUVEC_Human	2.37632379
10	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	2.35837892
11	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	2.34944107
12	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	2.34944107
13	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	2.30006667
14	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	2.25829690
15	AR_21909140_ChIP-Seq_LNCAP_Human	2.13404359
16	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	2.13404210
17	WT1_19549856_ChIP-ChIP_CCG9911_Human	2.06526356
18	ESR2_21235772_ChIP-Seq_MCF-7_Human	2.02597967
19	P300_27058665_Chip-Seq_ZR-75-30cells_Human	2.02054214
20	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.99409792
21	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	1.94183761
22	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.82179851
23	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	1.81668097
24	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.76789707
25	ATF3_27146783_Chip-Seq_COLON_Human	1.76285427
26	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.74256118
27	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.74101012
28	TCF3_18467660_ChIP-ChIP_MESCs_Mouse	1.69558420
29	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	1.67552629
30	BRD4_25478319_ChIP-Seq_HGPS_Human	1.65895520
31	RACK7_27058665_Chip-Seq_MCF-7_Human	1.65049378
32	ZNF263_19887448_ChIP-Seq_K562_Human	1.61947486
33	UBF1/2_26484160_Chip-Seq_HMECs_Human	1.60965949
34	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.59524168
35	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.58485882
36	KDM2B_26808549_Chip-Seq_SIL-ALL_Human	1.55682392
37	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.53193784
38	TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.51295558
39	TP53_22127205_ChIP-Seq_IMR90_Human	1.50054698
40	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.49395696
41	KDM2B_26808549_Chip-Seq_K562_Human	1.48397161
42	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	1.48291325
43	SALL4_18804426_ChIP-ChIP_MESCs_Mouse	1.47742673
44	NKX2-5_21415370_ChIP-Seq_HL-1_Mouse	1.47452955
45	KDM2B_26808549_Chip-Seq_SUP-B15_Human	1.47019019
46	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.46702890
47	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	1.43743560
48	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	1.42366435
49	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	1.40455759
50	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.39672223
51	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.38386531
52	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.38127389
53	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.36887954
54	MYC_22102868_ChIP-Seq_BL_Human	1.36115130
55	EOMES_20176728_ChIP-ChIP_TSCs_Mouse	1.35934042
56	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.29677726
57	TCF7_22412390_ChIP-Seq_EML_Mouse	1.29665707
58	KLF4_18555785_ChIP-Seq_MESCs_Mouse	1.28262283
59	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.27875452
60	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.27774882
61	P63_26484246_Chip-Seq_KERATINOCYTES_Human	1.27470620
62	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	1.27462798
63	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.25473472
64	NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human	1.23847741
65	ZIC3_20872845_ChIP-ChIP_MESCs_Mouse	1.22049052
66	ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	1.20240627
67	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.19855207
68	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.18110306
69	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.16869678
70	DMRT1_23473982_ChIP-Seq_TESTES_Mouse	1.15668066
71	CHD1_26751641_Chip-Seq_LNCaP_Human	1.14760620
72	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	1.14750348
73	ZFX_18555785_ChIP-Seq_MESCs_Mouse	1.14739209
74	TCF3_18692474_ChIP-Seq_MEFs_Mouse	1.13706312
75	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.12625095
76	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.12511359
77	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.12511359
78	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.11310641
79	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	1.10234256
80	ZFP281_27345836_Chip-Seq_ESCs_Mouse	1.09932354
81	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.08958042
82	LXR_22292898_ChIP-Seq_THP-1_Human	1.08432878
83	TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse	1.07884953
84	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.06627626
85	KDM2B_26808549_Chip-Seq_JURKAT_Human	1.06479275
86	TP53_23651856_ChIP-Seq_MEFs_Mouse	1.06422913
87	ZFP281_18757296_ChIP-ChIP_E14_Mouse	1.06275138
88	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	1.06044267
89	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.03356354
90	MYB_21317192_ChIP-Seq_ERMYB_Mouse	1.01439627
91	STAT3_1855785_ChIP-Seq_MESCs_Mouse	1.00646462
92	CJUN_26792858_Chip-Seq_BT549_Human	1.00547453
93	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.99848085
94	CNOT3_19339689_ChIP-ChIP_MESCs_Mouse	0.99586875
95	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.99218493
96	KDM2B_26808549_Chip-Seq_DND41_Human	0.98232818
97	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	0.98192357
98	RUNX1_27514584_Chip-Seq_MCF-7_Human	0.96890292
99	NELFA_20434984_ChIP-Seq_ESCs_Mouse	0.95849839
100	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	0.95211664

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003705_abnormal_hypodermis_morpholog	4.67497283
2	MP0008438_abnormal_cutaneous_collagen	4.37111168
3	MP0004272_abnormal_basement_membrane	3.78856265
4	MP0003566_abnormal_cell_adhesion	3.40510740
5	MP0005623_abnormal_meninges_morphology	2.85291654
6	MP0010352_gastrointestinal_tract_polyps	2.76221106
7	MP0002877_abnormal_melanocyte_morpholog	2.72663192
8	MP0005275_abnormal_skin_tensile	2.67685398
9	MP0003941_abnormal_skin_development	2.26939809
10	MP0003950_abnormal_plasma_membrane	2.25433728
11	MP0005257_abnormal_intraocular_pressure	2.19324740
12	MP0002796_impaired_skin_barrier	2.16848698
13	MP0009278_abnormal_bone_marrow	2.13208769
14	MP0003091_abnormal_cell_migration	2.12184296
15	MP0010234_abnormal_vibrissa_follicle	2.07366875
16	MP0004233_abnormal_muscle_weight	2.04683241
17	MP0005023_abnormal_wound_healing	1.97182954
18	MP0002060_abnormal_skin_morphology	1.90955974
19	MP0001849_ear_inflammation	1.85013060
20	MP0010030_abnormal_orbit_morphology	1.84092938
21	MP0000579_abnormal_nail_morphology	1.80725268
22	MP0005501_abnormal_skin_physiology	1.80411818
23	MP0003279_aneurysm	1.74563068
24	MP0010368_abnormal_lymphatic_system	1.71422592
25	MP0003453_abnormal_keratinocyte_physiol	1.70785872
26	MP0001958_emphysema	1.70635611
27	MP0000537_abnormal_urethra_morphology	1.67770462
28	MP0004858_abnormal_nervous_system	1.67348419
29	MP0009840_abnormal_foam_cell	1.67235891
30	MP0009053_abnormal_anal_canal	1.53384863
31	MP0005503_abnormal_tendon_morphology	1.51968015
32	MP0005451_abnormal_body_composition	1.51576848
33	MP0004808_abnormal_hematopoietic_stem	1.47382602
34	MP0009780_abnormal_chondrocyte_physiolo	1.43742617
35	MP0001542_abnormal_bone_strength	1.40615072
36	MP0001299_abnormal_eye_distance/	1.38817232
37	MP0004782_abnormal_surfactant_physiolog	1.34384826
38	MP0000762_abnormal_tongue_morphology	1.32894552
39	MP0000733_abnormal_muscle_development	1.32082503
40	MP0003191_abnormal_cellular_cholesterol	1.29241526
41	MP0001915_intracranial_hemorrhage	1.27947727
42	MP0000428_abnormal_craniofacial_morphol	1.23410282
43	MP0000767_abnormal_smooth_muscle	1.23315902
44	MP0001216_abnormal_epidermal_layer	1.23296436
45	MP0004947_skin_inflammation	1.23284509
46	MP0000751_myopathy	1.20005579
47	MP0005508_abnormal_skeleton_morphology	1.18213657
48	MP0009384_cardiac_valve_regurgitation	1.17330252
49	MP0005076_abnormal_cell_differentiation	1.15948350
50	MP0001243_abnormal_dermal_layer	1.15927564
51	MP0010678_abnormal_skin_adnexa	1.09707299
52	MP0004185_abnormal_adipocyte_glucose	1.09700238
53	MP0000858_altered_metastatic_potential	1.09078856
54	MP0001879_abnormal_lymphatic_vessel	1.05925952
55	MP0002295_abnormal_pulmonary_circulatio	1.04529124
56	MP0001661_extended_life_span	1.03713700
57	MP0002896_abnormal_bone_mineralization	1.02775957
58	MP0005058_abnormal_lysosome_morphology	1.01586381
59	MP0005409_darkened_coat_color	1.01393650
60	MP0010771_integument_phenotype	1.00344378
61	MP0003329_amyloid_beta_deposits	0.98275541
62	MP0001348_abnormal_lacrimal_gland	0.97549064
63	MP0000003_abnormal_adipose_tissue	0.97526737
64	MP0003385_abnormal_body_wall	0.95480344
65	MP0000467_abnormal_esophagus_morphology	0.95394550
66	MP0000432_abnormal_head_morphology	0.95133017
67	MP0006054_spinal_hemorrhage	0.94770303
68	MP0001730_embryonic_growth_arrest	0.92938786
69	MP0005621_abnormal_cell_physiology	0.91863438
70	MP0002086_abnormal_extraembryonic_tissu	0.91305576
71	MP0000383_abnormal_hair_follicle	0.89845931
72	MP0001672_abnormal_embryogenesis/_devel	0.88539912
73	MP0005380_embryogenesis_phenotype	0.88539912
74	MP0003984_embryonic_growth_retardation	0.88443930
75	MP0002697_abnormal_eye_size	0.86619142
76	MP0002254_reproductive_system_inflammat	0.86413186
77	MP0004957_abnormal_blastocyst_morpholog	0.85679136
78	MP0003448_altered_tumor_morphology	0.84335572
79	MP0005595_abnormal_vascular_smooth	0.84329663
80	MP0002098_abnormal_vibrissa_morphology	0.83822035
81	MP0000462_abnormal_digestive_system	0.83166843
82	MP0002088_abnormal_embryonic_growth/wei	0.83145150
83	MP0000759_abnormal_skeletal_muscle	0.81689852
84	MP0002084_abnormal_developmental_patter	0.81546227
85	MP0002925_abnormal_cardiovascular_devel	0.81261099
86	MP0001614_abnormal_blood_vessel	0.81232824
87	MP0004264_abnormal_extraembryonic_tissu	0.80628413
88	MP0000377_abnormal_hair_follicle	0.80597812
89	MP0008932_abnormal_embryonic_tissue	0.80079189
90	MP0001545_abnormal_hematopoietic_system	0.80032392
91	MP0005397_hematopoietic_system_phenotyp	0.80032392
92	MP0003300_gastrointestinal_ulcer	0.79346398
93	MP0002998_abnormal_bone_remodeling	0.77995694
94	MP0003111_abnormal_nucleus_morphology	0.75154169
95	MP0004084_abnormal_cardiac_muscle	0.74711720
96	MP0002085_abnormal_embryonic_tissue	0.74088781
97	MP0002080_prenatal_lethality	0.73939722
98	MP0000647_abnormal_sebaceous_gland	0.72874142
99	MP0004087_abnormal_muscle_fiber	0.72286870
100	MP0009931_abnormal_skin_appearance	0.72025034

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Premature rupture of membranes (HP:0001788)	5.38268207
2	Protrusio acetabuli (HP:0003179)	4.86116084
3	Vascular tortuosity (HP:0004948)	4.13925906
4	Arterial tortuosity (HP:0005116)	4.00474615
5	Atrophic scars (HP:0001075)	3.74044484
6	Natal tooth (HP:0000695)	3.33296391
7	Spinal rigidity (HP:0003306)	3.27453020
8	Short nail (HP:0001799)	3.16919331
9	Aortic dissection (HP:0002647)	3.15091873
10	Shallow orbits (HP:0000586)	3.10103965
11	Ankle contracture (HP:0006466)	3.07032087
12	Abnormality of dentin (HP:0010299)	3.00304214
13	Hyperacusis (HP:0010780)	2.99671466
14	Aortic aneurysm (HP:0004942)	2.93624422
15	Wormian bones (HP:0002645)	2.80386404
16	Cervical subluxation (HP:0003308)	2.78922053
17	Fragile skin (HP:0001030)	2.78130803
18	Soft skin (HP:0000977)	2.72999519
19	Bladder diverticulum (HP:0000015)	2.72587128
20	Increased connective tissue (HP:0009025)	2.69589066
21	Ulnar bowing (HP:0003031)	2.67648032
22	Distal lower limb amyotrophy (HP:0008944)	2.66126367
23	Blue sclerae (HP:0000592)	2.52453765
24	Osteolytic defects of the phalanges of the hand (HP:0009771)	2.48052945
25	Osteolytic defects of the hand bones (HP:0009699)	2.48052945
26	Mitral valve prolapse (HP:0001634)	2.44077720
27	Advanced eruption of teeth (HP:0006288)	2.41615026
28	Genu recurvatum (HP:0002816)	2.39449150
29	Broad face (HP:0000283)	2.37476680
30	Abnormality of oral frenula (HP:0000190)	2.35287867
31	Joint laxity (HP:0001388)	2.33940893
32	Neonatal short-limb short stature (HP:0008921)	2.33918525
33	Achilles tendon contracture (HP:0001771)	2.33236739
34	Ankyloglossia (HP:0010296)	2.31675254
35	Distal upper limb amyotrophy (HP:0007149)	2.30349292
36	Upper limb amyotrophy (HP:0009129)	2.30349292
37	Vertebral compression fractures (HP:0002953)	2.29124081
38	Dilatation of the ascending aorta (HP:0005111)	2.28095373
39	Overgrowth (HP:0001548)	2.25582431
40	Disproportionate tall stature (HP:0001519)	2.24456267
41	Abnormality of the distal phalanx of the thumb (HP:0009617)	2.23054140
42	Broad metatarsal (HP:0001783)	2.21161278
43	Flat acetabular roof (HP:0003180)	2.19451162
44	Follicular hyperkeratosis (HP:0007502)	2.19002011
45	Lower limb amyotrophy (HP:0007210)	2.12487536
46	Mildly elevated creatine phosphokinase (HP:0008180)	2.11673417
47	Type 1 muscle fiber predominance (HP:0003803)	2.08579583
48	Elbow flexion contracture (HP:0002987)	2.08030657
49	Insomnia (HP:0100785)	2.07073615
50	Difficulty climbing stairs (HP:0003551)	2.06860722
51	Spondylolisthesis (HP:0003302)	2.05955452
52	Mitral regurgitation (HP:0001653)	2.01152649
53	Abnormality of the Achilles tendon (HP:0005109)	2.00416268
54	Hyperextensible skin (HP:0000974)	1.98731030
55	Long eyelashes (HP:0000527)	1.98238526
56	Bowel diverticulosis (HP:0005222)	1.97165656
57	Long palpebral fissure (HP:0000637)	1.96514408
58	Aneurysm (HP:0002617)	1.95313198
59	Spinal cord lesions (HP:0100561)	1.93241489
60	Syringomyelia (HP:0003396)	1.93241489
61	Abnormality of the acetabulum (HP:0003170)	1.92907995
62	Distal lower limb muscle weakness (HP:0009053)	1.89761118
63	Entropion (HP:0000621)	1.89063510
64	Cerebral aneurysm (HP:0004944)	1.87655163
65	Increased variability in muscle fiber diameter (HP:0003557)	1.87022952
66	Abnormality of skull ossification (HP:0002703)	1.85507197
67	Aortic regurgitation (HP:0001659)	1.85358318
68	Sparse lateral eyebrow (HP:0005338)	1.84893614
69	Hand muscle atrophy (HP:0009130)	1.81858603
70	Increased mean platelet volume (HP:0011877)	1.80615950
71	Slender build (HP:0001533)	1.78859658
72	Spastic diplegia (HP:0001264)	1.78149168
73	Thin bony cortex (HP:0002753)	1.77433812
74	Abnormality of the phalanges of the hallux (HP:0010057)	1.76594679
75	Myocardial infarction (HP:0001658)	1.76259929
76	Cerebral inclusion bodies (HP:0100314)	1.75965202
77	Abnormal vertebral ossification (HP:0100569)	1.75933112
78	Abnormality of nail color (HP:0100643)	1.75260888
79	Onycholysis (HP:0001806)	1.75194852
80	Milia (HP:0001056)	1.74523560
81	Arnold-Chiari malformation (HP:0002308)	1.73970677
82	Premature skin wrinkling (HP:0100678)	1.73147485
83	Overriding aorta (HP:0002623)	1.71715303
84	Absent frontal sinuses (HP:0002688)	1.71669633
85	Turricephaly (HP:0000262)	1.69182317
86	Coronal craniosynostosis (HP:0004440)	1.68767513
87	Patellar dislocation (HP:0002999)	1.67243200
88	Decreased skull ossification (HP:0004331)	1.66927983
89	Selective tooth agenesis (HP:0001592)	1.66701282
90	Abnormality of skeletal muscle fiber size (HP:0012084)	1.66680649
91	Right ventricular cardiomyopathy (HP:0011663)	1.65328211
92	Abnormality of the distal phalanges of the toes (HP:0010182)	1.64604651
93	Neonatal death (HP:0003811)	1.64365297
94	Short clavicles (HP:0000894)	1.64288097
95	Obstructive sleep apnea (HP:0002870)	1.64108380
96	Long toe (HP:0010511)	1.63726464
97	Hypoplastic toenails (HP:0001800)	1.63366815
98	Wide anterior fontanel (HP:0000260)	1.62932301
99	Fragile nails (HP:0001808)	1.62540399
100	Renal duplication (HP:0000075)	1.61413138

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	CDK12	3.56662056
2	TRIB3	3.31724596
3	PDGFRA	3.20801986
4	TTN	2.85888313
5	LATS2	2.68792816
6	EPHA2	2.65384806
7	MET	2.51309796
8	MST1R	2.34033045
9	PTK2	2.32196838
10	NTRK1	2.23727729
11	ERN1	2.11233939
12	EEF2K	2.10998571
13	LATS1	2.05512101
14	TGFBR2	2.01109925
15	ICK	1.87722416
16	SMG1	1.78826678
17	PAK4	1.70716223
18	ERBB4	1.68948096
19	MOS	1.68744469
20	PAK2	1.67084596
21	SCYL2	1.66082894
22	IRAK3	1.65847090
23	BMX	1.63133763
24	PKN2	1.57802151
25	MTOR	1.56002933
26	EPHB2	1.50815352
27	CAMK1D	1.49892569
28	SIK1	1.46194351
29	PDGFRB	1.40712934
30	RIPK1	1.39055574
31	CAMK1G	1.37103522
32	MYLK	1.34628988
33	DDR2	1.30199766
34	BRD4	1.26156134
35	FLT3	1.21271500
36	CDK8	1.18312133
37	LMTK2	1.16862226
38	NEK9	1.15924671
39	CDC42BPA	1.10915406
40	STK38	1.05763758
41	TAOK2	0.98768424
42	PRKD3	0.96935681
43	TSSK6	0.96384342
44	ARAF	0.96279843
45	TESK1	0.95102831
46	EPHB1	0.87795816
47	PRKD2	0.87098087
48	PRPF4B	0.87048425
49	RPS6KA2	0.85900176
50	ILK	0.83471843
51	AKT3	0.79738666
52	STK3	0.77394177
53	MAP3K9	0.75517542
54	FGFR4	0.75375550
55	PTK6	0.74892915
56	NME2	0.74145947
57	MAP3K8	0.73889922
58	MAP3K6	0.73586929
59	TRPM7	0.70851960
60	TTK	0.70540494
61	BRAF	0.69287522
62	PBK	0.69063353
63	STK10	0.66955387
64	KSR2	0.64732444
65	ROCK2	0.63930827
66	MAP3K12	0.63351585
67	BRSK2	0.63181817
68	CHEK2	0.61955060
69	NEK2	0.60300919
70	MAP3K3	0.58911835
71	CDK7	0.58398566
72	TYRO3	0.58395334
73	LIMK1	0.57585524
74	STK38L	0.53146168
75	MAP2K3	0.52990534
76	AKT2	0.52413032
77	CDK6	0.52210255
78	PTK2B	0.50472947
79	CLK1	0.50275743
80	DMPK	0.50110086
81	WNK1	0.49330168
82	LRRK2	0.48260370
83	PRKG2	0.47767076
84	DAPK3	0.46887962
85	TGFBR1	0.46836816
86	CHEK1	0.46153062
87	PIM2	0.42884903
88	FER	0.42358931
89	PLK4	0.38956946
90	CDK9	0.38681366
91	PAK6	0.37801916
92	RPS6KA4	0.37141771
93	ROCK1	0.34983014
94	MAP3K11	0.33161150
95	TIE1	0.32836322
96	RET	0.32812656
97	MAPKAPK2	0.31740850
98	TAOK1	0.31128004
99	ABL2	0.30869730
100	MELK	0.30710950

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	ECM-receptor interaction_Homo sapiens_hsa04512	2.69959624
2	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	2.40340668
3	Adherens junction_Homo sapiens_hsa04520	2.31727238
4	Focal adhesion_Homo sapiens_hsa04510	2.20870727
5	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	2.05318558
6	Bladder cancer_Homo sapiens_hsa05219	1.99281504
7	Thyroid cancer_Homo sapiens_hsa05216	1.84552472
8	Small cell lung cancer_Homo sapiens_hsa05222	1.81896934
9	Proteoglycans in cancer_Homo sapiens_hsa05205	1.79029642
10	Chronic myeloid leukemia_Homo sapiens_hsa05220	1.65164301
11	Central carbon metabolism in cancer_Homo sapiens_hsa05230	1.64375117
12	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	1.63107080
13	MicroRNAs in cancer_Homo sapiens_hsa05206	1.62597459
14	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.58727192
15	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.57859593
16	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.56733173
17	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.48437402
18	Amoebiasis_Homo sapiens_hsa05146	1.47919854
19	Prion diseases_Homo sapiens_hsa05020	1.46336098
20	Leukocyte transendothelial migration_Homo sapiens_hsa04670	1.36882424
21	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.35247178
22	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	1.30356893
23	Other glycan degradation_Homo sapiens_hsa00511	1.29311384
24	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.28095482
25	Hippo signaling pathway_Homo sapiens_hsa04390	1.27339080
26	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.26510142
27	Pancreatic cancer_Homo sapiens_hsa05212	1.24684410
28	Prostate cancer_Homo sapiens_hsa05215	1.21321578
29	Endometrial cancer_Homo sapiens_hsa05213	1.16187592
30	Renal cell carcinoma_Homo sapiens_hsa05211	1.13927164
31	Tight junction_Homo sapiens_hsa04530	1.13841972
32	Notch signaling pathway_Homo sapiens_hsa04330	1.11807310
33	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.11805109
34	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	1.09394690
35	Melanoma_Homo sapiens_hsa05218	1.06995933
36	Lysine degradation_Homo sapiens_hsa00310	1.06911066
37	Pathways in cancer_Homo sapiens_hsa05200	1.06813596
38	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.06510457
39	VEGF signaling pathway_Homo sapiens_hsa04370	0.99490078
40	Apoptosis_Homo sapiens_hsa04210	0.96826964
41	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.95896502
42	Shigellosis_Homo sapiens_hsa05131	0.95807424
43	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.95047495
44	TNF signaling pathway_Homo sapiens_hsa04668	0.94771820
45	Glioma_Homo sapiens_hsa05214	0.94337132
46	Gap junction_Homo sapiens_hsa04540	0.93963810
47	ErbB signaling pathway_Homo sapiens_hsa04012	0.93655085
48	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.92712337
49	Pentose phosphate pathway_Homo sapiens_hsa00030	0.92705392
50	Acute myeloid leukemia_Homo sapiens_hsa05221	0.92468607
51	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.92288878
52	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.92036759
53	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.91870328
54	Colorectal cancer_Homo sapiens_hsa05210	0.86200304
55	Rap1 signaling pathway_Homo sapiens_hsa04015	0.86049242
56	Non-small cell lung cancer_Homo sapiens_hsa05223	0.85770038
57	p53 signaling pathway_Homo sapiens_hsa04115	0.85685465
58	Cell cycle_Homo sapiens_hsa04110	0.83848151
59	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.82348664
60	Salmonella infection_Homo sapiens_hsa05132	0.80802813
61	Platelet activation_Homo sapiens_hsa04611	0.80681019
62	Axon guidance_Homo sapiens_hsa04360	0.79838729
63	Vibrio cholerae infection_Homo sapiens_hsa05110	0.79236159
64	Basal cell carcinoma_Homo sapiens_hsa05217	0.77014065
65	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.76441523
66	Sphingolipid metabolism_Homo sapiens_hsa00600	0.76176880
67	Endocytosis_Homo sapiens_hsa04144	0.75403777
68	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.74213375
69	Viral carcinogenesis_Homo sapiens_hsa05203	0.73121967
70	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.72722303
71	DNA replication_Homo sapiens_hsa03030	0.72692799
72	Insulin signaling pathway_Homo sapiens_hsa04910	0.71972614
73	Hepatitis C_Homo sapiens_hsa05160	0.70959178
74	Estrogen signaling pathway_Homo sapiens_hsa04915	0.68727521
75	mRNA surveillance pathway_Homo sapiens_hsa03015	0.67448171
76	Nucleotide excision repair_Homo sapiens_hsa03420	0.67008447
77	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.66851266
78	Prolactin signaling pathway_Homo sapiens_hsa04917	0.66132134
79	AMPK signaling pathway_Homo sapiens_hsa04152	0.66067172
80	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.64964834
81	HTLV-I infection_Homo sapiens_hsa05166	0.64676515
82	Choline metabolism in cancer_Homo sapiens_hsa05231	0.64019268
83	Hepatitis B_Homo sapiens_hsa05161	0.63195574
84	Wnt signaling pathway_Homo sapiens_hsa04310	0.62725471
85	Protein digestion and absorption_Homo sapiens_hsa04974	0.62537501
86	GnRH signaling pathway_Homo sapiens_hsa04912	0.61906337
87	Lysosome_Homo sapiens_hsa04142	0.61665122
88	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.59926739
89	Renin-angiotensin system_Homo sapiens_hsa04614	0.59626034
90	mTOR signaling pathway_Homo sapiens_hsa04150	0.59236243
91	Melanogenesis_Homo sapiens_hsa04916	0.58695557
92	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.58448414
93	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.58328151
94	Malaria_Homo sapiens_hsa05144	0.57944018
95	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.57027807
96	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.56993725
97	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.52799828
98	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.52617540
99	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.52267390
100	Galactose metabolism_Homo sapiens_hsa00052	0.52133833

KBTBD11-OT1

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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