TF information

TF name: IRF6
TF family: IRF
Ensembl gene ID: ENSG00000117595
Ensembl protein ID: ENSP00000355988, ENSP00000496669, ENSP00000403855
Entrez gene ID: 3664
Database name Link Database name Link
NCBI Gene: Genecards:
Uniprot: Wikipedia:
Cosmic 3D: Geneontology:
CCLE:

Frequency of IRF6 in all biosamples
Sample ID Biosample type Tissue type Biosample name TF Frequency
Sample_02_228Cell lineOesophagusKYSE5100.30848089468779
Sample_02_307Cell lineNeuroblastomaSJNB120.26760563380282

IRF6 distribution in samples’ most representative CRC
Sample ID Tissue type Biosample type Biosample name

IRF6 distribution in all CRCs
Biosample type
Biosample name
Sample ID

Genomic distribution of SEs associated with IRF6
Download

Mutation of IRF6
Database name Link
gnomAD: gnomAD
ExAC: ExAC
ICGC:
Database name Link
Cosmic:
Cosmic cell lines:
Depmap:

TCGA somatic mutations and clinical variants of IRF6

rsID Chr Start Stop Ref Alt Gene_region Gene_symble Effect TCGA_Occurrence
-chr1209969826209969826CGexonicIRF6nonsynonymous PAAD|1|185|0.00541
-chr1209968740209968740CTexonicIRF6nonsynonymous SKCM|1|368|0.00272
-chr1209963951209963951AGexonicIRF6nonsynonymous PAAD|1|185|0.00541
-chr1209964014209964014CTexonicIRF6nonsynonymous UCEC|1|248|0.00403
-chr1209964020209964020GAexonicIRF6synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr1209974644209974644GAexonicIRF6nonsynonymous SKCM|1|368|0.00272
rs121434228chr1209963054209963054CTexonicIRF6stopgain STAD|1|395|0.00253,STES|1|395|0.00253
-chr1209961990209961990CAsplicingIRF6splicing STAD|1|395|0.00253,STES|1|395|0.00253
rs121434227chr1209969821209969821CTexonicIRF6nonsynonymous STAD|2|395|0.00506,STES|2|395|0.00506
-chr1209963041209963041GAexonicIRF6nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr1209963024209963024GCexonicIRF6synonymous CESC|1|194|0.00515
-chr1209964001209964001CGexonicIRF6nonsynonymous BRCA|1|982|0.00102
-chr1209961934209961934CTexonicIRF6nonsynonymous SKCM|1|368|0.00272,UCEC|1|248|0.00403
-chr1209963949209963949GAexonicIRF6synonymous KIPAN|1|799|0.00125,KIRC|1|451|0.00222
-chr1209968692209968692CTexonicIRF6nonsynonymous HNSC|1|512|0.00195
-chr1209969776209969776CAexonicIRF6nonsynonymous UCEC|1|248|0.00403
-chr1209968732209968732CTexonicIRF6synonymous SKCM|1|368|0.00272
-chr1209969729209969729CAexonicIRF6nonsynonymous LUAD|1|543|0.00184
-chr1209974602209974602CTexonicIRF6nonsynonymous SKCM|2|368|0.00543
-chr1209968651209968651GAexonicIRF6synonymous SKCM|1|368|0.00272
-chr1209964021209964021CAexonicIRF6nonsynonymous UCEC|1|248|0.00403
-chr1209964183209964183CGexonicIRF6nonsynonymous LUSC|1|178|0.00562
-chr1209968639209968639GAexonicIRF6synonymous BLCA|1|396|0.00253
-chr1209974655209974655CTexonicIRF6nonsynonymous UCEC|1|248|0.00403
-chr1209974733209974733CTexonicIRF6nonsynonymous SKCM|1|368|0.00272
-chr1209961912209961912GAexonicIRF6synonymous BLCA|1|396|0.00253
rs2013162chr1209968684209968684CTexonicIRF6synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr1209969813209969813GAexonicIRF6nonsynonymous HNSC|1|512|0.00195
-chr1209964161209964161GAexonicIRF6stopgain HNSC|1|512|0.00195
-chr1209969722209969722GAexonicIRF6nonsynonymous LUAD|1|543|0.00184
-chr1209969771209969771TCexonicIRF6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr1209974759209974759GCUTR5IRF6unknown BLCA|1|396|0.00253
-chr1209974721209974721CGexonicIRF6nonsynonymous BRCA|1|982|0.00102
-chr1209964227209964227CAexonicIRF6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr1209974658209974658TGexonicIRF6nonsynonymous CHOL|1|35|0.02857
-chr1209969723209969723GAexonicIRF6nonsynonymous LUAD|1|543|0.00184
-chr1209974688209974688GAexonicIRF6nonsynonymous SKCM|1|368|0.00272
-chr1209969762209969762GAexonicIRF6nonsynonymous OV|1|469|0.00213
-chr1209974723209974723GAexonicIRF6synonymous KIPAN|1|799|0.00125,KIRP|1|282|0.00355
-chr1209965672209965672GAexonicIRF6synonymous HNSC|1|512|0.00195
-chr1209961969209961969CAexonicIRF6synonymous LUAD|1|543|0.00184
rs121434224chr1209969798209969798CAexonicIRF6stopgain COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr1209969711209969711CAexonicIRF6nonsynonymous LUAD|1|543|0.00184
-chr1209968742209968742CTexonicIRF6stopgain TGCT|1|155|0.00645
-chr1209963984209963984CTexonicIRF6nonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
-chr1209961801209961801G-exonicIRF6frameshift STAD|1|395|0.00253,STES|1|395|0.00253
-chr1209969876209969876TAexonicIRF6stopgain SARC|1|247|0.00405
-chr1209961772209961772GAexonicIRF6nonsynonymous SKCM|2|368|0.00543
-chr1209961787209961787GAexonicIRF6nonsynonymous LIHC|1|373|0.00268
-chr1209963869209963869TGexonicIRF6nonsynonymous LUAD|1|543|0.00184
-chr1209969704209969704ACexonicIRF6nonsynonymous CHOL|1|35|0.02857
-chr1209969828209969828GCexonicIRF6nonsynonymous BLCA|1|396|0.00253
-chr1209969798209969798CGexonicIRF6nonsynonymous HNSC|1|512|0.00195
-chr1209961987209961987GAexonicIRF6synonymous SKCM|1|368|0.00272
-chr1209974619209974619CTexonicIRF6nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr1209968703209968703TCexonicIRF6nonsynonymous OV|1|469|0.00213
-chr1209961957209961957CTexonicIRF6synonymous SKCM|1|368|0.00272
-chr1209963984209963984CAexonicIRF6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr1209974642209974642GAexonicIRF6synonymous LIHC|1|373|0.00268
-chr1209964001209964001CTexonicIRF6nonsynonymous SKCM|1|368|0.00272
-chr1209968635209968635CGexonicIRF6nonsynonymous LUAD|1|543|0.00184
-chr1209974728209974728TAexonicIRF6stopgain LUAD|1|543|0.00184
-chr1209964128209964128GAexonicIRF6nonsynonymous SKCM|1|368|0.00272
-chr1209964105209964105GTexonicIRF6synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr1209968671209968671GAexonicIRF6nonsynonymous SKCM|1|368|0.00272
-chr1209969815209969815GAexonicIRF6nonsynonymous UCEC|1|248|0.00403
-chr1209961966209961966CTexonicIRF6nonsynonymous SKCM|2|368|0.00543
-chr1209963962209963962GAexonicIRF6nonsynonymous SKCM|1|368|0.00272
-chr1209964204209964204GAexonicIRF6synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr1209974608209974608CTexonicIRF6nonsynonymous LUAD|1|543|0.00184
-chr1209965758209965758GCexonicIRF6nonsynonymous LUAD|1|543|0.00184
-chr1209969798209969798CTexonicIRF6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr1209965712209965712GTexonicIRF6nonsynonymous LUSC|1|178|0.00562
-chr1209963884209963884CTexonicIRF6nonsynonymous SKCM|1|368|0.00272
-chr1209961873209961873GCexonicIRF6nonsynonymous CESC|1|194|0.00515
rs41303263chr1209964141209964141AGexonicIRF6synonymous BLCA|1|396|0.00253
-chr1209968732209968732CAexonicIRF6nonsynonymous LUSC|1|178|0.00562
-chr1209965706209965706CTexonicIRF6stopgain STAD|1|395|0.00253,STES|1|395|0.00253
-chr1209968716209968716CTexonicIRF6nonsynonymous SKCM|1|368|0.00272
rs121434229chr1209974625209974625CTexonicIRF6nonsynonymous PRAD|1|499|0.00200
-chr1209968702209968702TCexonicIRF6synonymous COAD|2|367|0.00545,COADREAD|2|489|0.00409
-chr1209964078209964078GAexonicIRF6synonymous BLCA|1|396|0.00253
-chr1209969868209969868CAexonicIRF6nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr1209963071209963071ACexonicIRF6nonsynonymous PRAD|1|499|0.00200
-chr1209969892209969892CTexonicIRF6stopgain UCEC|1|248|0.00403
-chr1209965773209965773CTsplicingIRF6splicing PAAD|1|185|0.00541
-chr1209974625209974625CGexonicIRF6nonsynonymous OV|1|469|0.00213
-chr1209974736209974736ATexonicIRF6nonsynonymous BLCA|1|396|0.00253
-chr1209964185209964185GAexonicIRF6stopgain LUSC|1|178|0.00562
-chr1209969822209969822GTexonicIRF6nonsynonymous BRCA|1|982|0.00102
-chr1209969858209969858CTexonicIRF6nonsynonymous CESC|1|194|0.00515
-chr1209974599209974599TGexonicIRF6nonsynonymous UCS|1|57|0.01754
-chr1209965773209965773CAsplicingIRF6splicing LUAD|1|543|0.00184,LUSC|1|178|0.00562
-chr1209964145209964145AGexonicIRF6nonsynonymous ACC|1|90|0.01111
-chr1209964089209964089GCexonicIRF6nonsynonymous KIPAN|1|799|0.00125,KIRP|1|282|0.00355
rs774866638chr1209961960209961960GAexonicIRF6synonymous LUAD|1|543|0.00184
-chr1209964227209964227CGexonicIRF6nonsynonymous OV|1|469|0.00213
-chr1209964079209964079ATexonicIRF6nonsynonymous LUAD|1|543|0.00184
-chr1209963884209963890CTCTCAA-exonicIRF6frameshift PRAD|1|499|0.00200
-chr1209969745209969745CAexonicIRF6nonsynonymous UCEC|1|248|0.00403
-chr1209961786209961786GAexonicIRF6synonymous SARC|1|247|0.00405
-chr1209961817209961817GAexonicIRF6nonsynonymous SKCM|1|368|0.00272
rs778870225chr1209961873209961873GAexonicIRF6synonymous SARC|1|247|0.00405,SKCM|2|368|0.00543
-chr1209969757209969757CAexonicIRF6nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr1209963069209963069GTexonicIRF6stopgain ESCA|1|185|0.00541
rs200808685chr1209963840209963840CTexonicIRF6nonsynonymous PAAD|1|185|0.00541
-chr1209964129209964129ACexonicIRF6synonymous SKCM|1|368|0.00272
rs750021967chr1209961847209961847CTexonicIRF6nonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
rs748882482chr1209964012209964012GAexonicIRF6synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr1209974644209974644GCexonicIRF6nonsynonymous BLCA|1|396|0.00253
-chr1209969692209969692CGsplicingIRF6splicing HNSC|2|512|0.00391
-chr1209964110209964110CTexonicIRF6nonsynonymous SKCM|1|368|0.00272
-chr1209968664209968664TCexonicIRF6nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr1209968741209968741CAexonicIRF6nonsynonymous LUAD|1|543|0.00184
-chr1209964072209964072GAexonicIRF6synonymous SKCM|1|368|0.00272
-chr1209961959209961959CTexonicIRF6nonsynonymous STAD|2|395|0.00506,STES|2|395|0.00506
-chr1209969720209969720GAexonicIRF6stopgain LUSC|1|178|0.00562
rs28942093chr1209974754209974754GAexonicIRF6nonsynonymous SKCM|1|368|0.00272
-chr1209964097209964097GAexonicIRF6nonsynonymous UCEC|1|248|0.00403
rs778608344chr1209974763209974763-GsplicingIRF6unknown KIPAN|5|799|0.00626,KIRC|5|451|0.01109,PAAD|1|185|0.00541

Disease information of IRF6
TF_name Disease_name Disease_class Disease_semantic_type TF_disease_source
IRF6 Arthrogryposis C05;C16 Disease or Syndrome GENOMICS_ENGLAND
IRF6 Cleft upper lip C07;C16 Congenital Abnormality CTD_human;ORPHANET
IRF6 Cleft Palate C05;C07;C16 Congenital Abnormality CTD_human
IRF6 Hypodontia C07;C16 Congenital Abnormality ORPHANET
IRF6 Skin Abnormalities C16;C17 Congenital Abnormality CTD_human
IRF6 Cleft palate with cleft lip Congenital Abnormality ORPHANET
IRF6 Van der Woude syndrome C04;C05;C07;C16;C23 Disease or Syndrome CTD_human;ORPHANET;UNIPROT
IRF6 Limb Deformities, Congenital C05;C16 Congenital Abnormality CTD_human
IRF6 Popliteal pterygium syndrome C05;C07;C11;C12;C13;C16 Disease or Syndrome CTD_human;ORPHANET;UNIPROT
IRF6 Craniofacial Abnormalities C05;C16 Congenital Abnormality CTD_human
IRF6 Cleft lip and alveolus Congenital Abnormality ORPHANET
IRF6 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO Finding CTD_human;UNIPROT
IRF6 Cleft palate, isolated C05;C07;C16 Congenital Abnormality CTD_human
IRF6 Intellectual Disability C10;C23;F01;F03 Mental or Behavioral Dysfunction GENOMICS_ENGLAND
IRF6 Oligodontia Congenital Abnormality ORPHANET

Pathway associated with IRF6
pathway_ID pathway_name pathway_source gene_number edge_number
pathway0002849 Hs_Hypothetical_Craniofacial_Development_Pathway_WP3655_88473 wikipathways 5 6

Go term information of IRF6
GO_term_name GO_term_type TF_name
GO_KERATINOCYTE_PROLIFERATION BP IRF6
GO_MAMMARY_GLAND_EPITHELIUM_DEVELOPMENT BP IRF6
GO_RESPONSE_TO_TYPE_I_INTERFERON BP IRF6
GO_MAMMARY_GLAND_EPITHELIAL_CELL_DIFFERENTIATION BP IRF6
GO_KERATINOCYTE_DIFFERENTIATION BP IRF6
GO_CELL_PROLIFERATION BP IRF6
GO_CELL_CYCLE BP IRF6
GO_EPITHELIAL_CELL_PROLIFERATION BP IRF6
GO_RESPONSE_TO_CYTOKINE BP IRF6

Survival analysis of IRF6



Calculate the hazards ratio based on Cox PH Model.
Add the 95% CI as dotted line.

Expression of IRF6