ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	establishment of skin barrier (GO:0061436)	8.76749477
2	desmosome organization (GO:0002934)	7.70593763
3	regulation of water loss via skin (GO:0033561)	7.69798495
4	keratinization (GO:0031424)	6.98490204
5	keratinocyte proliferation (GO:0043616)	6.37983348
6	skin morphogenesis (GO:0043589)	5.18442508
7	collagen fibril organization (GO:0030199)	4.85709535
8	peptidyl-proline hydroxylation (GO:0019511)	4.82264178
9	multicellular organismal water homeostasis (GO:0050891)	4.58200623
10	hemidesmosome assembly (GO:0031581)	4.32450115
11	endothelium development (GO:0003158)	4.14028334
12	gap junction assembly (GO:0016264)	4.13659396
13	regulation of transforming growth factor beta1 production (GO:0032908)	4.13343634
14	keratinocyte differentiation (GO:0030216)	4.11841063
15	protein hydroxylation (GO:0018126)	4.04597157
16	endodermal cell differentiation (GO:0035987)	3.84001779
17	keratinocyte development (GO:0003334)	3.75364370
18	water homeostasis (GO:0030104)	3.75321017
19	establishment of planar polarity (GO:0001736)	3.75291233
20	establishment of tissue polarity (GO:0007164)	3.75291233
21	peptide cross-linking (GO:0018149)	3.75101466
22	negative regulation of chondrocyte differentiation (GO:0032331)	3.72779534
23	substrate-dependent cell migration (GO:0006929)	3.68896850
24	negative regulation of cardiac muscle tissue development (GO:0055026)	3.67780091
25	chondrocyte development (GO:0002063)	3.62924752
26	regulation of glomerular filtration (GO:0003093)	3.58830819
27	cell adhesion mediated by integrin (GO:0033627)	3.56492012
28	positive regulation of p38MAPK cascade (GO:1900745)	3.54777414
29	negative regulation of heart growth (GO:0061117)	3.52436742
30	negative regulation of cardiac muscle tissue growth (GO:0055022)	3.52436742
31	extracellular fibril organization (GO:0043206)	3.44852150
32	molting cycle (GO:0042303)	3.43126774
33	hair cycle (GO:0042633)	3.43126774
34	regulation of tight junction assembly (GO:2000810)	3.32441736
35	bundle of His cell to Purkinje myocyte communication (GO:0086069)	3.30450685
36	response to redox state (GO:0051775)	3.29055165
37	regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)	3.20650966
38	epidermis development (GO:0008544)	3.20020316
39	purine ribonucleotide transport (GO:0015868)	3.19723256
40	cellular response to arsenic-containing substance (GO:0071243)	3.19393241
41	ribosomal large subunit biogenesis (GO:0042273)	3.19089661
42	epidermal cell differentiation (GO:0009913)	3.16058416
43	regulation of cardioblast differentiation (GO:0051890)	3.15014616
44	intestinal epithelial cell development (GO:0060576)	3.12718678
45	regulation of transforming growth factor beta2 production (GO:0032909)	3.12384286
46	4-hydroxyproline metabolic process (GO:0019471)	3.08808668
47	adenine nucleotide transport (GO:0051503)	3.05164350
48	positive regulation of osteoblast proliferation (GO:0033690)	3.04995161
49	ribosomal small subunit biogenesis (GO:0042274)	3.03644395
50	membrane raft organization (GO:0031579)	3.03051520
51	sequestering of extracellular ligand from receptor (GO:0035581)	3.02433810
52	dichotomous subdivision of an epithelial terminal unit (GO:0060600)	2.98827785
53	regulation of type B pancreatic cell apoptotic process (GO:2000674)	2.98354437
54	fibril organization (GO:0097435)	2.95749065
55	collagen metabolic process (GO:0032963)	2.94569475
56	type B pancreatic cell proliferation (GO:0044342)	2.93826953
57	ER overload response (GO:0006983)	2.92971092
58	collagen catabolic process (GO:0030574)	2.89705326
59	fibrinolysis (GO:0042730)	2.83715845
60	basement membrane organization (GO:0071711)	2.82522610
61	chronic inflammatory response (GO:0002544)	2.81290075
62	cell migration involved in heart development (GO:0060973)	2.80296299
63	wound healing, spreading of epidermal cells (GO:0035313)	2.79629999
64	positive regulation of transforming growth factor beta production (GO:0071636)	2.77156110
65	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.76939127
66	ribonucleoprotein complex disassembly (GO:0032988)	2.76153137
67	COPII vesicle coating (GO:0048208)	2.73602863
68	cotranslational protein targeting to membrane (GO:0006613)	2.73480666
69	adhesion of symbiont to host cell (GO:0044650)	2.72675880
70	virion attachment to host cell (GO:0019062)	2.72675880
71	protein targeting to ER (GO:0045047)	2.72652844
72	chondrocyte proliferation (GO:0035988)	2.72617215
73	multicellular organismal macromolecule metabolic process (GO:0044259)	2.68776934
74	extracellular negative regulation of signal transduction (GO:1900116)	2.68553932
75	extracellular regulation of signal transduction (GO:1900115)	2.68553932
76	natural killer cell mediated immunity (GO:0002228)	2.67572740
77	natural killer cell mediated cytotoxicity (GO:0042267)	2.67572740
78	regulation of Wnt signaling pathway involved in heart development (GO:0003307)	2.67025577
79	kidney mesenchyme development (GO:0072074)	2.66680084
80	establishment of protein localization to endoplasmic reticulum (GO:0072599)	2.66546998
81	membrane budding (GO:0006900)	2.66151362
82	muscle cell migration (GO:0014812)	2.65061600
83	negative regulation of stem cell proliferation (GO:2000647)	2.63900218
84	protein localization to endoplasmic reticulum (GO:0070972)	2.63265342
85	multicellular organismal catabolic process (GO:0044243)	2.61495902
86	negative regulation of muscle organ development (GO:0048635)	2.61266447
87	protein heterotrimerization (GO:0070208)	2.60704195
88	intermediate filament organization (GO:0045109)	2.60389773
89	regulation of collagen metabolic process (GO:0010712)	2.60156225
90	viral transcription (GO:0019083)	2.58497440
91	neural crest cell development (GO:0014032)	2.56380245
92	negative regulation of cartilage development (GO:0061037)	2.55836544
93	nucleotide-sugar biosynthetic process (GO:0009226)	2.54633804
94	extracellular matrix disassembly (GO:0022617)	2.52183120
95	long-chain fatty acid biosynthetic process (GO:0042759)	2.52165709
96	multicellular organismal metabolic process (GO:0044236)	2.51860976
97	regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	2.49220340
98	protein retention in ER lumen (GO:0006621)	2.48059866
99	cellular response to zinc ion (GO:0071294)	2.47754338
100	regulation of metalloenzyme activity (GO:0048552)	2.46738121

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TP63_17297297_ChIP-ChIP_HaCaT_Human	8.17712052
2	TRIM28_21343339_ChIP-Seq_HEK293_Human	6.07558441
3	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	5.50803705
4	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.19266516
5	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	4.01844823
6	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	3.51570782
7	HIF1A_21447827_ChIP-Seq_MCF-7_Human	3.11796962
8	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.83949334
9	CJUN_26792858_Chip-Seq_BT549_Human	2.83639534
10	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	2.65140585
11	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	2.65140585
12	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.43606819
13	BRD4_25478319_ChIP-Seq_HGPS_Human	2.37988279
14	* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	2.30832233
15	P63_26484246_Chip-Seq_KERATINOCYTES_Human	2.30691271
16	RARG_19884340_ChIP-ChIP_MEFs_Mouse	2.24272859
17	TP53_18474530_ChIP-ChIP_U2OS_Human	2.17239143
18	ELK1_19687146_ChIP-ChIP_HELA_Human	2.11312188
19	ELK1_22589737_ChIP-Seq_MCF10A_Human	2.07845592
20	NRF2_20460467_ChIP-Seq_MEFs_Mouse	2.01672005
21	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	2.01672005
22	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.83905347
23	* TP63_23658742_ChIP-Seq_EP156T_Human	1.73381019
24	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.69541823
25	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.67752948
26	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.62813066
27	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	1.61217074
28	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.59444542
29	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.56901154
30	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	1.54163489
31	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.53681029
32	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	1.52679147
33	UBF1/2_26484160_Chip-Seq_HMECs_Human	1.50044144
34	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	1.46598341
35	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.45975167
36	* PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.43705305
37	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.38498949
38	SOX2_20726797_ChIP-Seq_SW620_Human	1.36642066
39	CLOCK_20551151_ChIP-Seq_293T_Human	1.35719582
40	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.34677277
41	TP53_16413492_ChIP-PET_HCT116_Human	1.27526247
42	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.25662352
43	ATF3_27146783_Chip-Seq_COLON_Human	1.21026318
44	ELF5_23300383_ChIP-Seq_T47D_Human	1.18251808
45	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.17414220
46	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.16714369
47	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	1.15057912
48	ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	1.12112043
49	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.11322981
50	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.10461066
51	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.09963464
52	DCP1A_22483619_ChIP-Seq_HELA_Human	1.08434535
53	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.07955245
54	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.06800757
55	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	1.05214337
56	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.04260073
57	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.03429884
58	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.01128552
59	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.00361081
60	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.99426415
61	FOXO3_23340844_ChIP-Seq_DLD1_Human	0.97797917
62	FOXM1_26456572_ChIP-Seq_MCF-7_Human	0.97663341
63	RBPJ_21746931_ChIP-Seq_IB4_Human	0.97372881
64	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	0.97012346
65	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	0.96962174
66	GATA3_24758297_ChIP-Seq_MCF-7_Human	0.95873033
67	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	0.92156361
68	NFI_21473784_ChIP-Seq_ESCs_Mouse	0.89780577
69	EST1_17652178_ChIP-ChIP_JURKAT_Human	0.89661647
70	ETS1_20019798_ChIP-Seq_JURKAT_Human	0.88259208
71	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.88240228
72	PHF8_20622853_ChIP-Seq_HELA_Human	0.87443278
73	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	0.87149517
74	SOX17_20123909_ChIP-Seq_XEN_Mouse	0.87003948
75	SMC1_22415368_ChIP-Seq_MEFs_Mouse	0.86224696
76	ESR2_21235772_ChIP-Seq_MCF-7_Human	0.85907053
77	TP53_22127205_ChIP-Seq_IMR90_Human	0.85542657
78	SA1_22415368_ChIP-Seq_MEFs_Mouse	0.84818547
79	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.83645058
80	EOMES_20176728_ChIP-ChIP_TSCs_Mouse	0.83495840
81	P300_27058665_Chip-Seq_ZR-75-30cells_Human	0.82971224
82	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	0.82601493
83	CDX2_22108803_ChIP-Seq_LS180_Human	0.82500494
84	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	0.81093925
85	ESR1_20079471_ChIP-ChIP_T-47D_Human	0.80832525
86	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.79321580
87	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	0.79303323
88	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	0.78282265
89	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	0.77927070
90	CSB_26484114_Chip-Seq_FIBROBLAST_Human	0.77145540
91	NKX2-5_21415370_ChIP-Seq_HL-1_Mouse	0.74440740
92	FUS_26573619_Chip-Seq_HEK293_Human	0.74222931
93	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.74097045
94	NFYB_21822215_ChIP-Seq_K562_Human	0.73383775
95	TFEB_21752829_ChIP-Seq_HELA_Human	0.72612313
96	CREB1_15753290_ChIP-ChIP_HEK293T_Human	0.71617106
97	GATA4_25053715_ChIP-Seq_YYC3_Human	0.71080921
98	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.69979773
99	ETV1_20927104_ChIP-Seq_GIST48_Human	0.69718165
100	CDX2_19796622_ChIP-Seq_MESCs_Mouse	0.69383683

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005275_abnormal_skin_tensile	6.79925184
2	MP0008438_abnormal_cutaneous_collagen	6.04679641
3	MP0002796_impaired_skin_barrier	4.70316546
4	MP0009379_abnormal_foot_pigmentation	3.75570286
5	MP0005503_abnormal_tendon_morphology	3.59030354
6	MP0003950_abnormal_plasma_membrane	3.24846344
7	MP0003279_aneurysm	3.17348122
8	MP0004272_abnormal_basement_membrane	3.16485303
9	MP0005501_abnormal_skin_physiology	3.05947443
10	MP0002060_abnormal_skin_morphology	2.82641174
11	MP0003705_abnormal_hypodermis_morpholog	2.79147084
12	MP0005257_abnormal_intraocular_pressure	2.46881384
13	MP0010234_abnormal_vibrissa_follicle	2.46050606
14	MP0001542_abnormal_bone_strength	2.30147698
15	MP0003941_abnormal_skin_development	2.28349185
16	MP0000762_abnormal_tongue_morphology	2.18524802
17	MP0003566_abnormal_cell_adhesion	2.18322520
18	MP0009384_cardiac_valve_regurgitation	2.12029019
19	MP0010030_abnormal_orbit_morphology	2.06358448
20	MP0010771_integument_phenotype	2.01945902
21	MP0001216_abnormal_epidermal_layer	1.95197272
22	MP0010368_abnormal_lymphatic_system	1.93702779
23	MP0005023_abnormal_wound_healing	1.92416797
24	MP0003453_abnormal_keratinocyte_physiol	1.78889510
25	MP0005508_abnormal_skeleton_morphology	1.74870359
26	MP0005623_abnormal_meninges_morphology	1.64120957
27	MP0000579_abnormal_nail_morphology	1.50195182
28	MP0005171_absent_coat_pigmentation	1.46403707
29	MP0005197_abnormal_uvea_morphology	1.36255740
30	MP0001958_emphysema	1.35131750
31	MP0002877_abnormal_melanocyte_morpholog	1.34450154
32	MP0006054_spinal_hemorrhage	1.29535808
33	MP0010386_abnormal_urinary_bladder	1.29131990
34	MP0001243_abnormal_dermal_layer	1.28874890
35	MP0003191_abnormal_cellular_cholesterol	1.27246497
36	MP0000750_abnormal_muscle_regeneration	1.25508096
37	MP0010678_abnormal_skin_adnexa	1.23801543
38	MP0009250_abnormal_appendicular_skeleto	1.21176576
39	MP0004947_skin_inflammation	1.20357110
40	MP0009053_abnormal_anal_canal	1.17511982
41	MP0002896_abnormal_bone_mineralization	1.15140112
42	MP0002282_abnormal_trachea_morphology	1.12394696
43	MP0005408_hypopigmentation	1.11994362
44	MP0002295_abnormal_pulmonary_circulatio	1.08273605
45	MP0001191_abnormal_skin_condition	1.07916874
46	MP0000015_abnormal_ear_pigmentation	1.07062883
47	MP0002177_abnormal_outer_ear	1.06356171
48	MP0003091_abnormal_cell_migration	1.04063900
49	MP0002095_abnormal_skin_pigmentation	1.02853710
50	MP0001879_abnormal_lymphatic_vessel	1.00653725
51	MP0002098_abnormal_vibrissa_morphology	1.00456894
52	MP0005193_abnormal_anterior_eye	1.00379583
53	MP0009780_abnormal_chondrocyte_physiolo	0.99753812
54	MP0000647_abnormal_sebaceous_gland	0.96886484
55	MP0000013_abnormal_adipose_tissue	0.96287063
56	MP0003755_abnormal_palate_morphology	0.94210894
57	MP0001853_heart_inflammation	0.94067790
58	MP0002108_abnormal_muscle_morphology	0.93175125
59	MP0001299_abnormal_eye_distance/	0.92476430
60	MP0009697_abnormal_copulation	0.90796707
61	MP0005174_abnormal_tail_pigmentation	0.89527810
62	MP0005164_abnormal_response_to	0.89224815
63	MP0000858_altered_metastatic_potential	0.89015521
64	MP0009931_abnormal_skin_appearance	0.86693980
65	MP0000377_abnormal_hair_follicle	0.85856642
66	MP0000427_abnormal_hair_cycle	0.85681779
67	MP0005390_skeleton_phenotype	0.85185960
68	MP0000163_abnormal_cartilage_morphology	0.83101243
69	MP0000462_abnormal_digestive_system	0.81371921
70	MP0000749_muscle_degeneration	0.80494894
71	MP0000767_abnormal_smooth_muscle	0.78988479
72	MP0002332_abnormal_exercise_endurance	0.78580070
73	MP0001340_abnormal_eyelid_morphology	0.76569092
74	MP0003385_abnormal_body_wall	0.71619799
75	MP0001915_intracranial_hemorrhage	0.71567999
76	MP0001188_hyperpigmentation	0.71172195
77	MP0000383_abnormal_hair_follicle	0.70932993
78	MP0002115_abnormal_skeleton_extremities	0.69454375
79	MP0004510_myositis	0.69365512
80	MP0000432_abnormal_head_morphology	0.67103937
81	MP0000428_abnormal_craniofacial_morphol	0.66969160
82	MP0000733_abnormal_muscle_development	0.66735208
83	MP0000467_abnormal_esophagus_morphology	0.65970122
84	MP0005165_increased_susceptibility_to	0.65528738
85	MP0002113_abnormal_skeleton_development	0.64962844
86	MP0002998_abnormal_bone_remodeling	0.64141402
87	MP0003828_pulmonary_edema	0.64090757
88	MP0000367_abnormal_coat/_hair	0.62726548
89	MP0000049_abnormal_middle_ear	0.61858395
90	MP0000627_abnormal_mammary_gland	0.61417285
91	MP0002006_tumorigenesis	0.60996150
92	MP0006082_CNS_inflammation	0.60285744
93	MP0003935_abnormal_craniofacial_develop	0.59840465
94	MP0000566_synostosis	0.57587023
95	MP0001851_eye_inflammation	0.57399120
96	MP0003448_altered_tumor_morphology	0.56223336
97	MP0001784_abnormal_fluid_regulation	0.56177508
98	MP0004134_abnormal_chest_morphology	0.55365484
99	MP0002109_abnormal_limb_morphology	0.55340805
100	MP0003186_abnormal_redox_activity	0.55273875

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Premature rupture of membranes (HP:0001788)	6.60348934
2	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	4.69927326
3	Atrophic scars (HP:0001075)	4.46989319
4	Protrusio acetabuli (HP:0003179)	4.40742193
5	Congenital ichthyosiform erythroderma (HP:0007431)	4.29220779
6	Aortic dissection (HP:0002647)	4.25625080
7	Fragile nails (HP:0001808)	4.13658524
8	Onycholysis (HP:0001806)	4.01490110
9	Erythroderma (HP:0001019)	3.91582576
10	Hypotrichosis (HP:0001006)	3.90369821
11	Fragile skin (HP:0001030)	3.70970052
12	Palmoplantar hyperkeratosis (HP:0000972)	3.70515611
13	Soft skin (HP:0000977)	3.57280180
14	Alopecia of scalp (HP:0002293)	3.56400613
15	Palmar hyperkeratosis (HP:0010765)	3.51130094
16	Spondylolisthesis (HP:0003302)	3.48820404
17	Arterial tortuosity (HP:0005116)	3.42610844
18	Plantar hyperkeratosis (HP:0007556)	3.30605314
19	Follicular hyperkeratosis (HP:0007502)	3.30409472
20	Selective tooth agenesis (HP:0001592)	3.27732514
21	Dry hair (HP:0011359)	3.21861294
22	Tetraparesis (HP:0002273)	3.21723879
23	Erythema (HP:0010783)	3.16771806
24	Short middle phalanx of the 5th finger (HP:0004220)	3.16161093
25	Osteolytic defects of the phalanges of the hand (HP:0009771)	3.10947819
26	Osteolytic defects of the hand bones (HP:0009699)	3.10947819
27	Vascular tortuosity (HP:0004948)	3.07107840
28	Aplasia of the phalanges of the hand (HP:0009802)	3.06957999
29	Aplasia involving bones of the extremities (HP:0009825)	3.06957999
30	Aplasia involving bones of the upper limbs (HP:0009823)	3.06957999
31	Metaphyseal dysplasia (HP:0100255)	3.06454870
32	Absent frontal sinuses (HP:0002688)	3.05216378
33	Bladder diverticulum (HP:0000015)	3.02745904
34	Abnormality of secondary sexual hair (HP:0009888)	2.90964196
35	Abnormality of the axillary hair (HP:0100134)	2.90964196
36	Wormian bones (HP:0002645)	2.89614462
37	Conjunctival hamartoma (HP:0100780)	2.85878352
38	Corneal erosion (HP:0200020)	2.76822202
39	Lip pit (HP:0100267)	2.75371657
40	Woolly hair (HP:0002224)	2.73472250
41	Right ventricular cardiomyopathy (HP:0011663)	2.72609310
42	Neonatal short-limb short stature (HP:0008921)	2.63659390
43	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	2.63124343
44	Abnormality of the frontal sinuses (HP:0002687)	2.62762322
45	Increased IgE level (HP:0003212)	2.56801691
46	Abnormality of nail color (HP:0100643)	2.54395593
47	Short nail (HP:0001799)	2.46112423
48	Vertebral compression fractures (HP:0002953)	2.43053247
49	Sparse eyelashes (HP:0000653)	2.41648828
50	Ulnar bowing (HP:0003031)	2.41431768
51	Aortic aneurysm (HP:0004942)	2.40487730
52	Sensory axonal neuropathy (HP:0003390)	2.36672462
53	Palmoplantar keratoderma (HP:0000982)	2.30316515
54	Blue sclerae (HP:0000592)	2.29076923
55	Abnormality of dentin (HP:0010299)	2.28973832
56	Oral leukoplakia (HP:0002745)	2.27491293
57	Sparse scalp hair (HP:0002209)	2.23816439
58	Thick nail (HP:0001805)	2.23023692
59	Cupped ribs (HP:0000887)	2.20155090
60	Mitral stenosis (HP:0001718)	2.18626637
61	Nasolacrimal duct obstruction (HP:0000579)	2.17122920
62	Hyperextensible skin (HP:0000974)	2.14057557
63	Parakeratosis (HP:0001036)	2.13418281
64	Dilatation of the ascending aorta (HP:0005111)	2.10630903
65	Nail dystrophy (HP:0008404)	2.10155546
66	Shallow orbits (HP:0000586)	2.10044864
67	Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)	2.08079065
68	Long nose (HP:0003189)	2.07364361
69	Radial bowing (HP:0002986)	2.06233592
70	Peritonitis (HP:0002586)	2.06067804
71	Genu recurvatum (HP:0002816)	2.04384124
72	Aplasia/Hypoplasia involving the sinuses (HP:0009120)	2.03147347
73	Entropion (HP:0000621)	2.02272341
74	Tibial bowing (HP:0002982)	1.99124936
75	Mixed hearing impairment (HP:0000410)	1.97143713
76	Natal tooth (HP:0000695)	1.94465381
77	Knee flexion contracture (HP:0006380)	1.92394792
78	Ankle contracture (HP:0006466)	1.92226741
79	Reduced subcutaneous adipose tissue (HP:0003758)	1.92018284
80	Abnormality of molar (HP:0011077)	1.91957025
81	Abnormality of molar morphology (HP:0011070)	1.91957025
82	Coxa vara (HP:0002812)	1.91533567
83	Hyporeflexia of lower limbs (HP:0002600)	1.91152307
84	Cervical subluxation (HP:0003308)	1.89994456
85	Hypoplastic left heart (HP:0004383)	1.87556026
86	Mitral valve prolapse (HP:0001634)	1.86758006
87	Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)	1.84331985
88	Bifid uvula (HP:0000193)	1.83237761
89	Patent foramen ovale (HP:0001655)	1.82678552
90	Abnormal delivery (HP:0001787)	1.82607270
91	Abnormality of placental membranes (HP:0011409)	1.82547901
92	Amniotic constriction ring (HP:0009775)	1.82547901
93	Bowed forearm bones (HP:0003956)	1.82170400
94	Bowing of the arm (HP:0006488)	1.82170400
95	Xerostomia (HP:0000217)	1.80834442
96	Thin skin (HP:0000963)	1.77007463
97	Cardiovascular calcification (HP:0011915)	1.74572242
98	Hamartoma of the eye (HP:0010568)	1.73047461
99	Taurodontia (HP:0000679)	1.71158106
100	Abnormality of permanent molar morphology (HP:0011071)	1.71158106

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	EPHA2	4.62546085
2	STK24	4.19192242
3	MYLK	3.53116297
4	TESK1	2.98997892
5	EIF2AK3	2.97838288
6	MAP3K12	2.61726624
7	PAK4	2.37912200
8	MST1R	2.35542363
9	LIMK1	2.31872330
10	STK16	2.29790841
11	LATS2	2.24212397
12	NME2	2.23062101
13	IRAK3	2.19706183
14	MAP3K3	2.06804402
15	EPHB2	2.05049441
16	ILK	1.95534165
17	EIF2AK1	1.91754985
18	MAP3K6	1.89134572
19	PIK3CG	1.83701961
20	ARAF	1.81236739
21	MST4	1.79401372
22	TGFBR2	1.78214379
23	PAK2	1.77743545
24	PTK2	1.75536091
25	CDK8	1.60443286
26	MOS	1.56471490
27	MET	1.55095922
28	STK38L	1.51435499
29	MAPK7	1.48527879
30	PBK	1.47619405
31	TGFBR1	1.45532917
32	LMTK2	1.44143193
33	PIM2	1.34883925
34	TTN	1.33480550
35	SRPK1	1.32522605
36	MAP3K2	1.24890410
37	ERBB4	1.19747074
38	STK3	1.18304843
39	BCR	1.16496204
40	RIPK1	1.16346099
41	PRKCE	1.10303001
42	TRPM7	1.09789505
43	NEK9	1.05775226
44	NME1	1.05232652
45	BRSK2	1.03623705
46	STK38	0.97880149
47	ABL2	0.96590815
48	DDR2	0.94060544
49	PRKG2	0.93586657
50	FGFR1	0.91130434
51	RPS6KB2	0.89611523
52	DMPK	0.85736267
53	MAPK12	0.84589500
54	MAPKAPK3	0.79803703
55	PHKG1	0.79003900
56	PHKG2	0.79003900
57	KIT	0.77827705
58	DAPK3	0.74532638
59	NTRK1	0.69530725
60	PDGFRA	0.65786003
61	ERBB3	0.64268832
62	BUB1	0.64009894
63	VRK1	0.63438017
64	TIE1	0.62720414
65	ROCK1	0.62366261
66	ADRBK1	0.60910876
67	ROCK2	0.55544742
68	EIF2AK2	0.55414668
69	GSK3A	0.54977608
70	LATS1	0.52936137
71	CDK9	0.52740086
72	CAMK2G	0.50307485
73	PLK2	0.50216287
74	RPS6KA4	0.49667908
75	BMPR1B	0.46765706
76	ICK	0.46518969
77	INSRR	0.41017119
78	PTK2B	0.40945379
79	TBK1	0.39442427
80	SIK1	0.39398742
81	MAPKAPK2	0.39201277
82	MAP3K5	0.37670013
83	STK10	0.34495512
84	TAOK2	0.34035068
85	MAPKAPK5	0.32654806
86	PRPF4B	0.32118300
87	PKN1	0.31838513
88	FLT3	0.29812724
89	PIK3CA	0.29526851
90	MAP3K9	0.28301278
91	DYRK3	0.27495592
92	CASK	0.27447439
93	PDGFRB	0.27213715
94	PAK1	0.26593966
95	AURKB	0.25949902
96	ERN1	0.25772904
97	MTOR	0.24853488
98	PAK6	0.24645001
99	PRKCI	0.24279173
100	MAP2K1	0.22005707

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	3.94444336
2	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	3.83873714
3	ECM-receptor interaction_Homo sapiens_hsa04512	3.69906517
4	Protein export_Homo sapiens_hsa03060	3.51771925
5	Circadian rhythm_Homo sapiens_hsa04710	2.82942155
6	Oxidative phosphorylation_Homo sapiens_hsa00190	2.21531514
7	Amoebiasis_Homo sapiens_hsa05146	2.18180225
8	Focal adhesion_Homo sapiens_hsa04510	2.07262289
9	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	2.05910945
10	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.00803761
11	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.97033823
12	Nucleotide excision repair_Homo sapiens_hsa03420	1.94747607
13	Malaria_Homo sapiens_hsa05144	1.88821556
14	p53 signaling pathway_Homo sapiens_hsa04115	1.83573368
15	Basal transcription factors_Homo sapiens_hsa03022	1.81788196
16	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.75988697
17	Proteasome_Homo sapiens_hsa03050	1.70952698
18	Protein digestion and absorption_Homo sapiens_hsa04974	1.67822606
19	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.66463997
20	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.61100373
21	Sphingolipid metabolism_Homo sapiens_hsa00600	1.59817182
22	Vibrio cholerae infection_Homo sapiens_hsa05110	1.48769443
23	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.46234314
24	Alzheimers disease_Homo sapiens_hsa05010	1.44218191
25	Proteoglycans in cancer_Homo sapiens_hsa05205	1.42389383
26	Small cell lung cancer_Homo sapiens_hsa05222	1.40050269
27	RNA polymerase_Homo sapiens_hsa03020	1.36764921
28	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.33932629
29	Parkinsons disease_Homo sapiens_hsa05012	1.31711036
30	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.20484477
31	Sulfur metabolism_Homo sapiens_hsa00920	1.18775534
32	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.16707567
33	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	1.13979597
34	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	1.13168725
35	Hippo signaling pathway_Homo sapiens_hsa04390	1.10831811
36	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.10720462
37	Huntingtons disease_Homo sapiens_hsa05016	1.09036089
38	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.08771788
39	Adherens junction_Homo sapiens_hsa04520	1.08419686
40	Pertussis_Homo sapiens_hsa05133	1.06663809
41	Glutathione metabolism_Homo sapiens_hsa00480	1.05295607
42	Basal cell carcinoma_Homo sapiens_hsa05217	1.03417716
43	Legionellosis_Homo sapiens_hsa05134	1.02444293
44	African trypanosomiasis_Homo sapiens_hsa05143	1.01542639
45	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.99583255
46	Folate biosynthesis_Homo sapiens_hsa00790	0.96377115
47	Salmonella infection_Homo sapiens_hsa05132	0.92558030
48	Collecting duct acid secretion_Homo sapiens_hsa04966	0.90250003
49	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.88156653
50	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.84607566
51	Rheumatoid arthritis_Homo sapiens_hsa05323	0.83297116
52	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.82871951
53	Histidine metabolism_Homo sapiens_hsa00340	0.80447711
54	Renal cell carcinoma_Homo sapiens_hsa05211	0.79572524
55	Fatty acid elongation_Homo sapiens_hsa00062	0.79112510
56	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.77944122
57	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.77729168
58	Pathways in cancer_Homo sapiens_hsa05200	0.72607197
59	Pyrimidine metabolism_Homo sapiens_hsa00240	0.68993562
60	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.66260660
61	Galactose metabolism_Homo sapiens_hsa00052	0.65001879
62	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.64575752
63	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.64540540
64	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.64304030
65	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.63956238
66	Wnt signaling pathway_Homo sapiens_hsa04310	0.61591323
67	Bladder cancer_Homo sapiens_hsa05219	0.58731591
68	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.58519219
69	TNF signaling pathway_Homo sapiens_hsa04668	0.58440133
70	Melanogenesis_Homo sapiens_hsa04916	0.57316430
71	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.57169708
72	Regulation of autophagy_Homo sapiens_hsa04140	0.56241703
73	Cardiac muscle contraction_Homo sapiens_hsa04260	0.56072307
74	Endocytosis_Homo sapiens_hsa04144	0.56004529
75	HIF-1 signaling pathway_Homo sapiens_hsa04066	0.54087009
76	Mineral absorption_Homo sapiens_hsa04978	0.52463830
77	Shigellosis_Homo sapiens_hsa05131	0.51968111
78	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.50333097
79	Tight junction_Homo sapiens_hsa04530	0.48067727
80	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.45905070
81	Pancreatic cancer_Homo sapiens_hsa05212	0.44230410
82	RNA transport_Homo sapiens_hsa03013	0.41819720
83	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.41187910
84	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.41025272
85	Thyroid cancer_Homo sapiens_hsa05216	0.39725213
86	Melanoma_Homo sapiens_hsa05218	0.38291070
87	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.37313868
88	Ras signaling pathway_Homo sapiens_hsa04014	0.37308387
89	Arginine and proline metabolism_Homo sapiens_hsa00330	0.37256127
90	Chemical carcinogenesis_Homo sapiens_hsa05204	0.34816849
91	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.33080308
92	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.32780601
93	Metabolic pathways_Homo sapiens_hsa01100	0.31878556
94	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.30545353
95	Lysosome_Homo sapiens_hsa04142	0.29109682
96	Alcoholism_Homo sapiens_hsa05034	0.29105982
97	Retinol metabolism_Homo sapiens_hsa00830	0.28109400
98	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.25846623
99	Sulfur relay system_Homo sapiens_hsa04122	0.25393233
100	Axon guidance_Homo sapiens_hsa04360	0.25139142

C5ORF46

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

Tissue Expression Export image »

Cell Line Expression Export image »