TF information

TF name: HNF1A
TF family: Homeobox
Ensembl gene ID: ENSG00000135100
Ensembl protein ID: ENSP00000443112, ENSP00000438804, ENSP00000257555, ENSP00000476181
Entrez gene ID: 6927
Database name Link Database name Link
NCBI Gene: Genecards:
Uniprot: Wikipedia:
Cosmic 3D: Geneontology:
CCLE:

Frequency of HNF1A in all biosamples
Sample ID Biosample type Tissue type Biosample name TF Frequency
Sample_01_001Cell lineProstate22Rv10.33414043583535
Sample_02_236Cell lineColonV2060.91511387163561
Sample_02_237Cell lineColonV3890.97110252162709
Sample_02_241Cell lineColonV4560.87923250564334
Sample_02_242Cell lineColonV4810.4499455232968
Sample_02_285Cell lineLiverHuH7_untreat0.49128919860627
Sample_02_322Cell lineColonCaco-20.06864064602961
Sample_02_354Cell lineColonColo2050.80930930930931
Sample_02_358Cell lineColonLS1800.90955766192733

HNF1A distribution in samples’ most representative CRC
Sample ID Tissue type Biosample type Biosample name
Sample_02_236ColonCell lineV206
Sample_02_237ColonCell lineV389
Sample_02_241ColonCell lineV456
Sample_02_354ColonCell lineColo205
Sample_02_358ColonCell lineLS180

HNF1A distribution in all CRCs
Biosample type
Biosample name
Sample ID

Genomic distribution of SEs associated with HNF1A
Download

Mutation of HNF1A
Database name Link
gnomAD: gnomAD
ExAC: ExAC
ICGC:
Database name Link
Cosmic:
Cosmic cell lines:
Depmap:

TCGA somatic mutations and clinical variants of HNF1A

rsID Chr Start Stop Ref Alt Gene_region Gene_symble Effect TCGA_Occurrence
-chr12121435420121435420AGexonicHNF1Anonsynonymous ESCA|1|185|0.00541
rs772756175chr12121435350121435350CTexonicHNF1Asynonymous PRAD|1|499|0.00200
-chr12121432128121432128GAexonicHNF1Anonsynonymous SKCM|1|368|0.00272
rs570915522chr12121432114121432114CTexonicHNF1Asynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs766191969chr12121432116121432116-CexonicHNF1Aframeshift BRCA|2|982|0.00204
-chr12121431465121431465CTexonicHNF1Asynonymous SKCM|1|368|0.00272
-chr12121434601121434601GAintronicHNF1Aunknown SARC|1|247|0.00405
-chr12121426820121426820CTexonicHNF1Astopgain LIHC|1|373|0.00268
-chr12121431506121431506AGexonicHNF1Anonsynonymous LIHC|1|373|0.00268
-chr12121426785121426785GTexonicHNF1Anonsynonymous LUAD|1|543|0.00184
-chr12121432064121432064CTexonicHNF1Anonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr12121434128121434128CTexonicHNF1Anonsynonymous SKCM|2|368|0.00543
rs774996577chr12121426649121426649CTexonicHNF1Anonsynonymous UCEC|1|248|0.00403
-chr12121431498121431498GAexonicHNF1Asynonymous SKCM|1|368|0.00272
-chr12121416712121416714GGA-exonicHNF1Anonframeshift LIHC|1|373|0.00268
-chr12121426802121426802TCexonicHNF1Anonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs766982432chr12121432118121432118C-exonicHNF1Aframeshift COAD|2|367|0.00545,COADREAD|2|489|0.00409,ESCA|1|185|0.00541,STAD|4|395|0.01013,STES|4|395|0.01013
-chr12121416768121416768AGexonicHNF1Anonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121438866121438866AGsplicingHNF1Asplicing STAD|1|395|0.00253,STES|1|395|0.00253
-chr12121431330121431330CTexonicHNF1Asynonymous HNSC|1|512|0.00195
-chr12121434399121434399GAexonicHNF1Anonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121416631121416631GAexonicHNF1Asynonymous SKCM|1|368|0.00272
-chr12121426813121426813CGexonicHNF1Asynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121431453121431453GCexonicHNF1Anonsynonymous BLCA|1|396|0.00253
-chr12121431429121431429GAexonicHNF1Asynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121435510121435510GTintronicHNF1Aunknown ESCA|1|185|0.00541
-chr12121416852121416852CAexonicHNF1Anonsynonymous LUSC|1|178|0.00562
-chr12121432043121432043GAexonicHNF1Anonsynonymous HNSC|1|512|0.00195
rs2259820chr12121435342121435342CTexonicHNF1Asynonymous DLBC|2|48|0.04167
-chr12121426687121426687CAexonicHNF1Anonsynonymous BRCA|1|982|0.00102
-chr12121426736121426736CTexonicHNF1Anonsynonymous KICH|1|66|0.01515,KIPAN|1|799|0.00125
-chr12121416899121416899TAsplicingHNF1Asplicing LIHC|1|373|0.00268
rs375702866chr12121438947121438947CTexonicHNF1Asynonymous STAD|2|395|0.00506,STES|2|395|0.00506
-chr12121437343121437343CTexonicHNF1Astopgain KIPAN|1|799|0.00125,KIRP|1|282|0.00355
-chr12121431360121431360GTexonicHNF1Anonsynonymous UCEC|1|248|0.00403
rs201934320chr12121426830121426830CTexonicHNF1Anonsynonymous SKCM|1|368|0.00272
rs55834942chr12121437114121437114GAexonicHNF1Asynonymous DLBC|3|48|0.06250
-chr12121438965121438965CTexonicHNF1Asynonymous CESC|1|194|0.00515
-chr12121437070121437070GAsplicingHNF1Asplicing LIHC|1|373|0.00268
-chr12121434205121434205GCexonicHNF1Anonsynonymous BLCA|1|396|0.00253
-chr12121434166121434166C-exonicHNF1Aframeshift LIHC|1|373|0.00268
-chr12121426669121426669GTexonicHNF1Anonsynonymous BRCA|1|982|0.00102
-chr12121416664121416664TCexonicHNF1Asynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121426771121426771GAexonicHNF1Anonsynonymous SKCM|1|368|0.00272
-chr12121434630121434630-CATTCATintronicHNF1Aunknown OV|1|469|0.00213
-chr12121431424121431424TAexonicHNF1Anonsynonymous LIHC|1|373|0.00268
-chr12121416572121416744ATGGTTTCTAAACTGAGCCAGCTGCAGACGGAGCTCCTGGCGGCCCTGCTCGAGTCAGGGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCGGGGCCCTACCTCCTGGCTGGAGAAGGCCCCCTGGACAAGGGGGAGTCCTGCGGCGGCGGTCGAGGGGAGCTGGC-exonicHNF1Aframeshift -
-chr12121416797121416797GAexonicHNF1Anonsynonymous SKCM|1|368|0.00272
-chr12121434448121434448CTexonicHNF1Asynonymous SKCM|1|368|0.00272
rs371807951chr12121435468121435468GAexonicHNF1Anonsynonymous HNSC|1|512|0.00195
rs762703502chr12121432115121432115G-exonicHNF1Aframeshift COAD|4|367|0.01090,COADREAD|4|489|0.00818,HNSC|1|512|0.00195,SKCM|1|368|0.00272,STAD|4|395|0.01013,STES|4|395|0.01013,UCEC|2|248|0.00806
-chr12121416684121416684TCexonicHNF1Anonsynonymous LIHC|1|373|0.00268
rs2464196chr12121435427121435427GAexonicHNF1Anonsynonymous DLBC|2|48|0.04167
-chr12121426634121426634AGsplicingHNF1Asplicing COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121431351121431351GAexonicHNF1Asynonymous SKCM|1|368|0.00272
-chr12121434172121434172GTexonicHNF1Anonsynonymous LUAD|1|543|0.00184
-chr12121416718121416718CTexonicHNF1Asynonymous SKCM|1|368|0.00272
-chr12121434164121434164CTexonicHNF1Anonsynonymous LIHC|1|373|0.00268
rs56348580chr12121432117121432117GCexonicHNF1Asynonymous DLBC|3|48|0.06250
-chr12121432014121432014TAexonicHNF1Anonsynonymous LIHC|1|373|0.00268
-chr12121426701121426701GTexonicHNF1Anonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204,GBM|1|290|0.00345,GBMLGG|1|820|0.00122
rs201694197chr12121435467121435467CTexonicHNF1Asynonymous HNSC|1|512|0.00195
-chr12121434148121434148CTexonicHNF1Anonsynonymous SKCM|1|368|0.00272
-chr12121434482121434482CAexonicHNF1Anonsynonymous LUAD|1|543|0.00184
rs1169289chr12121416622121416622CGexonicHNF1Asynonymous DLBC|2|48|0.04167
-chr12121426777121426777GAexonicHNF1Asynonymous HNSC|2|512|0.00391
-chr12121437302121437302CGexonicHNF1Anonsynonymous HNSC|1|512|0.00195
-chr12121435299121435299GCexonicHNF1Anonsynonymous BLCA|1|396|0.00253
-chr12121431982121431982GAexonicHNF1Asynonymous BLCA|1|396|0.00253
-chr12121431417121431417CAexonicHNF1Asynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121438773121438773GAintronicHNF1Aunknown STAD|1|395|0.00253,STES|1|395|0.00253
-chr12121432189121432189CGexonicHNF1Asynonymous ESCA|1|185|0.00541
-chr12121431342121431342GAexonicHNF1Asynonymous SKCM|1|368|0.00272
rs113111047chr12121434647121434647ATintronicHNF1Aunknown ESCA|1|185|0.00541
-chr12121431983121431983AGexonicHNF1Anonsynonymous LIHC|1|373|0.00268
-chr12121432065121432065GTexonicHNF1Anonsynonymous SARC|1|247|0.00405
-chr12121432060121432060CTexonicHNF1Asynonymous BLCA|2|396|0.00505
-chr12121431483121431483AGexonicHNF1Asynonymous COAD|1|367|0.00272,COADREAD|2|489|0.00409,READ|1|122|0.00820
-chr12121434449121434449ATexonicHNF1Anonsynonymous LUSC|1|178|0.00562
-chr12121432002121432002AGexonicHNF1Anonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs769086289chr12121431481121431481CTexonicHNF1Astopgain COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121416794121416794GAexonicHNF1Anonsynonymous SARC|1|247|0.00405
rs368683806chr12121434479121434479GAexonicHNF1Anonsynonymous BLCA|1|396|0.00253
-chr12121434696121434696TAintronicHNF1Aunknown BRCA|1|982|0.00102
-chr12121431369121431369-GexonicHNF1Aframeshift KICH|1|66|0.01515,KIPAN|1|799|0.00125
-chr12121434389121434389GAexonicHNF1Anonsynonymous BLCA|1|396|0.00253
rs763412043chr12121434123121434123CTexonicHNF1Asynonymous PRAD|2|499|0.00401,STAD|1|395|0.00253,STES|1|395|0.00253
rs144674840chr12121437365121437365CTexonicHNF1Anonsynonymous PRAD|1|499|0.00200
-chr12121434367121434367C-exonicHNF1Aframeshift COAD|2|367|0.00545,COADREAD|2|489|0.00409
rs760640415chr12121432086121432086GAexonicHNF1Anonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121438965121438965CAexonicHNF1Asynonymous BLCA|1|396|0.00253
-chr12121437400121437400CTexonicHNF1Anonsynonymous SKCM|1|368|0.00272
-chr12121416653121416653CTexonicHNF1Astopgain SKCM|1|368|0.00272
-chr12121434594121434594AGintronicHNF1Aunknown SKCM|1|368|0.00272
-chr12121437209121437209CTintronicHNF1Aunknown ESCA|1|185|0.00541
-chr12121432067121432067CAexonicHNF1Anonsynonymous LUSC|1|178|0.00562
-chr12121437354121437354CTexonicHNF1Asynonymous LUAD|1|543|0.00184
-chr12121437168121437168GAexonicHNF1Asynonymous SKCM|1|368|0.00272
-chr12121437150121437150CTexonicHNF1Asynonymous SKCM|1|368|0.00272
-chr12121434405121434405AGexonicHNF1Anonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121426712121426712GAexonicHNF1Anonsynonymous UCEC|1|248|0.00403
-chr12121434162121434162GTexonicHNF1Asynonymous LIHC|1|373|0.00268
-chr12121435406121435406TCexonicHNF1Anonsynonymous BLCA|1|396|0.00253
-chr12121437158121437158TCexonicHNF1Anonsynonymous KIPAN|1|799|0.00125,KIRP|1|282|0.00355
rs757068809chr12121434170121434170CTexonicHNF1Anonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr12121431395121431395GAexonicHNF1Anonsynonymous SKCM|1|368|0.00272
-chr12121437175121437175CTexonicHNF1Anonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
rs751449138chr12121432117121432117-CexonicHNF1Aframeshift KIPAN|2|799|0.00250,KIRC|2|451|0.00443,LUAD|1|543|0.00184
-chr12121426770121426770TCexonicHNF1Anonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs199511735chr12121437180121437180GAexonicHNF1Asynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121439044121439044GTUTR3HNF1Aunknown ESCA|1|185|0.00541
-chr12121437368121437368-CexonicHNF1Aframeshift KICH|1|66|0.01515,KIPAN|1|799|0.00125
rs758875084chr12121434487121434487TAexonicHNF1Asynonymous HNSC|2|512|0.00391
rs193922580chr12121435391121435391CTexonicHNF1Anonsynonymous SKCM|1|368|0.00272
rs760910961chr12121426657121426657GAexonicHNF1Asynonymous SKCM|1|368|0.00272
-chr12121416709121416709GAexonicHNF1Asynonymous SKCM|1|368|0.00272
-chr12121432040121432040CGexonicHNF1Anonsynonymous LIHC|1|373|0.00268
-chr12121438953121438953CAexonicHNF1Asynonymous HNSC|2|512|0.00391
-chr12121431496121431496GAexonicHNF1Anonsynonymous SKCM|1|368|0.00272
rs139016696chr12121426650121426650GAexonicHNF1Anonsynonymous BLCA|1|396|0.00253,UCEC|1|248|0.00403
rs774637975chr12121416600121416600CTexonicHNF1Anonsynonymous PRAD|1|499|0.00200
-chr12121435302121435302TGexonicHNF1Anonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr12121437163121437163GAexonicHNF1Anonsynonymous UCEC|1|248|0.00403
rs137853244chr12121426700121426700CTexonicHNF1Anonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121416806121416806GAexonicHNF1Anonsynonymous SKCM|1|368|0.00272
-chr12121431475121431475GAexonicHNF1Anonsynonymous SKCM|1|368|0.00272
-chr12121437184121437184AGexonicHNF1Anonsynonymous PAAD|1|185|0.00541
-chr12121431999121431999CGexonicHNF1Astopgain ESCA|1|185|0.00541
-chr12121431321121431321AGsplicingHNF1Asplicing COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121416810121416810AGexonicHNF1Anonsynonymous SKCM|1|368|0.00272
-chr12121416877121416877CAexonicHNF1Asynonymous LUSC|1|178|0.00562
rs753998395chr12121426701121426701GAexonicHNF1Anonsynonymous UCEC|1|248|0.00403
rs549471872chr12121434120121434120CTexonicHNF1Asynonymous OV|1|469|0.00213
-chr12121416639121416639A-exonicHNF1Aframeshift STAD|1|395|0.00253,STES|1|395|0.00253
-chr12121434799121434799ATintronicHNF1Aunknown SARC|1|247|0.00405
-chr12121416883121416883GAexonicHNF1Asynonymous HNSC|1|512|0.00195
-chr12121431482121431482GAexonicHNF1Anonsynonymous BRCA|1|982|0.00102
-chr12121438927121438927-TexonicHNF1Aframeshift STAD|1|395|0.00253,STES|1|395|0.00253
-chr12121426689121426689AGexonicHNF1Anonsynonymous COADREAD|1|489|0.00204,READ|1|122|0.00820
rs776169793chr12121435308121435308GAexonicHNF1Asynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs773895173chr12121437383121437383GAexonicHNF1Anonsynonymous OV|1|469|0.00213
-chr12121416586121416586GCexonicHNF1Asynonymous BLCA|1|396|0.00253
-chr12121426788121426788CAexonicHNF1Anonsynonymous SKCM|1|368|0.00272
-chr12121426774121426774GAexonicHNF1Asynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12121431449121431449AGexonicHNF1Anonsynonymous BRCA|1|982|0.00102
-chr12121434509121434509ACexonicHNF1Anonsynonymous KIPAN|1|799|0.00125,KIRP|1|282|0.00355
rs193922576chr12121434361121434361C-exonicHNF1Aframeshift STAD|1|395|0.00253,STES|1|395|0.00253

Disease information of HNF1A
TF_name Disease_name Disease_class Disease_semantic_type TF_disease_source
HNF1A Renal Cell Carcinoma C04;C12;C13 Neoplastic Process CTD_human
HNF1A Coronary heart disease C14 Disease or Syndrome CTD_human
HNF1A Diabetes Mellitus, Insulin-Dependent C18;C19;C20 Disease or Syndrome CTD_human
HNF1A Diabetes Mellitus, Non-Insulin-Dependent C18;C19 Disease or Syndrome CTD_human
HNF1A Hyperinsulinism C18 Disease or Syndrome GENOMICS_ENGLAND
HNF1A Hypoglycemia C18 Disease or Syndrome CTD_human
HNF1A Diabetes, Autoimmune C18;C19;C20 Disease or Syndrome CTD_human
HNF1A Hepatocellular Adenoma C04;C06 Neoplastic Process CGI
HNF1A Fasting Hypoglycemia C18 Disease or Syndrome CTD_human
HNF1A Reactive hypoglycemia C18 Disease or Syndrome CTD_human
HNF1A Conventional (Clear Cell) Renal Cell Carcinoma C04;C12;C13 Neoplastic Process CGI;CTD_human
HNF1A Maturity onset diabetes mellitus in young C18;C19 Disease or Syndrome ORPHANET
HNF1A Brittle diabetes C18;C19;C20 Disease or Syndrome CTD_human
HNF1A Chromophobe Renal Cell Carcinoma C04;C12;C13 Neoplastic Process CTD_human;ORPHANET
HNF1A Sarcomatoid Renal Cell Carcinoma C04;C12;C13 Neoplastic Process CTD_human
HNF1A Collecting Duct Carcinoma of the Kidney C04;C12;C13 Neoplastic Process CTD_human
HNF1A Papillary Renal Cell Carcinoma C04;C12;C13 Neoplastic Process CTD_human
HNF1A MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) C18;C19 Disease or Syndrome CTD_human;UNIPROT
HNF1A Hepatic Adenomas, Familial C04;C06 Disease or Syndrome CTD_human
HNF1A Liver carcinoma C04;C06 Neoplastic Process CGI;UNIPROT
HNF1A DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) C18;C19;C20 Disease or Syndrome CTD_human;UNIPROT
HNF1A Diabetes Mellitus, Ketosis-Prone C18;C19;C20 Disease or Syndrome CTD_human
HNF1A Hyperinsulinism due to HNF1A deficiency Disease or Syndrome ORPHANET
HNF1A Clear cell papillary renal cell carcinoma Neoplastic Process ORPHANET

Pathway associated with HNF1A
pathway_ID pathway_name pathway_source gene_number edge_number
pathway0000825 FOXA2 and FOXA3 transcription factor networks pid 45 202
pathway0001132 IL6 netpath 85 1335
pathway0001714 Presenilin action in Notch and Wnt signaling pid 46 287
pathway0001834 Regulation of gene expression in beta cells reactome 17 54
pathway0002631 Maturity onset diabetes of the young kegg 25 76

Go term information of HNF1A
GO_term_name GO_term_type TF_name
GO_AMIDE_TRANSPORT BP HNF1A
GO_PROTEIN_SECRETION BP HNF1A
GO_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION BP HNF1A
GO_INSULIN_SECRETION BP HNF1A
GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER BP HNF1A
GO_HORMONE_TRANSPORT BP HNF1A
GO_POSITIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS BP HNF1A
GO_PEPTIDE_SECRETION BP HNF1A
GO_GLUCOSE_IMPORT BP HNF1A
GO_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION BP HNF1A
GO_MONOSACCHARIDE_TRANSPORT BP HNF1A
GO_CARBOHYDRATE_HOMEOSTASIS BP HNF1A
GO_RENAL_ABSORPTION BP HNF1A
GO_KIDNEY_MORPHOGENESIS BP HNF1A
GO_PEPTIDE_TRANSPORT BP HNF1A
GO_RENAL_SYSTEM_PROCESS BP HNF1A
GO_REGULATION_OF_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER BP HNF1A
GO_IDENTICAL_PROTEIN_BINDING MF HNF1A

Survival analysis of HNF1A



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

Expression of HNF1A