TF information

TF name: HNF1B
TF family: Homeobox
Ensembl gene ID: ENSG00000275410
Ensembl protein ID: ENSP00000482529, ENSP00000480291, ENSP00000482711, ENSP00000477524, ENSP00000478682
Entrez gene ID: 6928
Database name Link Database name Link
NCBI Gene: Genecards:
Uniprot: Wikipedia:
Cosmic 3D: Geneontology:
CCLE:

Frequency of HNF1B in all biosamples
Sample ID Biosample type Tissue type Biosample name TF Frequency
Sample_01_001Cell lineProstate22Rv10.31719128329298
Sample_02_080Cell lineLungCalu-31
Sample_02_192Cell lineStomachMKN450.5
Sample_02_237Cell lineColonV3890.57003497147064
Sample_02_241Cell lineColonV4560.25846501128668
Sample_02_267Cell lineKidney786-O0.4
Sample_02_354Cell lineColonColo2050.36186186186186
Sample_02_361Cell lineColonHT29_DMSO0.092035398230088
Sample_02_430Cell lineKidney123642840.875

HNF1B distribution in samples’ most representative CRC
Sample ID Tissue type Biosample type Biosample name
Sample_01_001ProstateCell line22Rv1
Sample_02_080LungCell lineCalu-3
Sample_02_192StomachCell lineMKN45
Sample_02_237ColonCell lineV389
Sample_02_354ColonCell lineColo205
Sample_02_430KidneyCell line12364284

HNF1B distribution in all CRCs
Biosample type
Biosample name
Sample ID

Genomic distribution of SEs associated with HNF1B
Download

Mutation of HNF1B
Database name Link
gnomAD: gnomAD
ExAC: ExAC
ICGC:
Database name Link
Cosmic:
Cosmic cell lines:
Depmap:

TCGA somatic mutations and clinical variants of HNF1B

rsID Chr Start Stop Ref Alt Gene_region Gene_symble Effect TCGA_Occurrence
-chr173606498636064986TGexonicHNF1Bnonsynonymous COADREAD|1|489|0.00204,READ|1|122|0.00820
-chr173610458636104586GAexonicHNF1Bnonsynonymous SARC|1|247|0.00405
-chr173609161636091616GTexonicHNF1Bnonsynonymous SARC|1|247|0.00405
-chr173607062636070626GAexonicHNF1Bnonsynonymous HNSC|1|512|0.00195
-chr173604733836047338CTUTR3HNF1Bunknown SKCM|1|368|0.00272
-chr173609168636091686-TexonicHNF1Bframeshift PAAD|1|185|0.00541
rs764285484chr173604731636047316GAUTR3HNF1Bunknown SKCM|2|368|0.00543
-chr173609371636093716CGexonicHNF1Bnonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr173609945436099454CTexonicHNF1Bnonsynonymous HNSC|1|512|0.00195
-chr173606505236065052GAexonicHNF1Bnonsynonymous SKCM|1|368|0.00272
-chr173609176136091761CTexonicHNF1Bsynonymous SKCM|1|368|0.00272
-chr173609368836093688GCexonicHNF1Bnonsynonymous HNSC|1|512|0.00195
-chr173610466936104669GAexonicHNF1Bsynonymous BLCA|1|396|0.00253
-chr173609362536093625AGexonicHNF1Bnonsynonymous COAD|2|367|0.00545,COADREAD|2|489|0.00409,OV|1|469|0.00213
rs867882536chr173609366136093661CTexonicHNF1Bnonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr173609158636091586CAexonicHNF1Bstopgain OV|1|469|0.00213
-chr173609164436091644CTexonicHNF1Bsynonymous HNSC|1|512|0.00195
rs775094591chr173607060136070601GAexonicHNF1Bsynonymous HNSC|1|512|0.00195
-chr173605910036059100GAexonicHNF1Bsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
rs764042837chr173605917336059173-GexonicHNF1Bframeshift COAD|2|367|0.00545,COADREAD|2|489|0.00409,KIPAN|4|799|0.00501,KIRC|4|451|0.00887,LUAD|8|543|0.01473,PAAD|1|185|0.00541,STAD|1|395|0.00253,STES|1|395|0.00253
-chr173604704736047057TGTTCGATGAA-UTR3HNF1Bunknown -
-chr173605911836059118GTexonicHNF1Bnonsynonymous CESC|1|194|0.00515
-chr173609172536091725GCexonicHNF1Bnonsynonymous KIPAN|2|799|0.00250,KIRC|2|451|0.00443
-chr173609170136091701CTexonicHNF1Bsynonymous SKCM|1|368|0.00272
rs753220832chr173607053636070536TCexonicHNF1Bnonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr173610484036104840GTexonicHNF1Bsynonymous KIPAN|1|799|0.00125,KIRC|1|451|0.00222
rs772737211chr173604735436047354GAUTR3HNF1Bunknown SKCM|2|368|0.00543,STAD|1|395|0.00253,STES|1|395|0.00253
-chr173609177236091772CGexonicHNF1Bnonsynonymous SARC|1|247|0.00405
rs769477849chr173605918136059181TCexonicHNF1Bsynonymous SKCM|1|368|0.00272
-chr173609952336099523GAexonicHNF1Bnonsynonymous SKCM|1|368|0.00272
-chr173609363436093634GAexonicHNF1Bnonsynonymous SKCM|1|368|0.00272
-chr173609366336093663GCexonicHNF1Bsynonymous PRAD|1|499|0.00200
rs147218489chr173609953136099531CTexonicHNF1Bsynonymous STAD|2|395|0.00506,STES|2|395|0.00506,UCEC|1|248|0.00403
-chr173609364536093645CTexonicHNF1Bstopgain SKCM|1|368|0.00272
-chr173609370836093708CTexonicHNF1Bsynonymous SARC|1|247|0.00405
-chr173609358436093584CGexonicHNF1Bnonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr173609950936099510TG-exonicHNF1Bframeshift KICH|1|66|0.01515,KIPAN|1|799|0.00125
-chr173609378036093780CTexonicHNF1Bnonsynonymous SKCM|1|368|0.00272
rs776536485chr173606492536064925TCexonicHNF1Bsynonymous LUAD|1|543|0.00184
-chr173610453436104534GAexonicHNF1Bsynonymous BLCA|1|396|0.00253
-chr173609165536091655GAexonicHNF1Bsynonymous SKCM|1|368|0.00272
rs753701914chr173610475836104758CGexonicHNF1Bnonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr173610472836104728GTexonicHNF1Bnonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr173610485236104852GAexonicHNF1Bsynonymous SKCM|1|368|0.00272
-chr173609378736093787CTexonicHNF1Bnonsynonymous SKCM|1|368|0.00272
rs764561297chr173609945936099459GAexonicHNF1Bsynonymous UCEC|1|248|0.00403
-chr173606111736061117GTexonicHNF1Bnonsynonymous UCEC|1|248|0.00403
-chr173610453536104535AGexonicHNF1Bnonsynonymous LIHC|1|373|0.00268
-chr173609158536091585CTsplicingHNF1Bsplicing COAD|2|367|0.00545,COADREAD|2|489|0.00409
-chr173607059836070598GTexonicHNF1Bsynonymous LIHC|1|373|0.00268
-chr173609172336091723CTexonicHNF1Bnonsynonymous HNSC|1|512|0.00195
-chr173609172136091721TCexonicHNF1Bnonsynonymous BRCA|1|982|0.00102
-chr173609956436099564CTexonicHNF1Bsynonymous SKCM|2|368|0.00543
-chr173609162336091623GTexonicHNF1Bnonsynonymous HNSC|1|512|0.00195
-chr173605917936059179GAexonicHNF1Bnonsynonymous OV|1|469|0.00213
-chr173609380036093800CAexonicHNF1Bnonsynonymous LUSC|1|178|0.00562
-chr173609951036099511TG-exonicHNF1Bframeshift KICH|1|66|0.01515,KIPAN|1|799|0.00125
-chr173610467036104680TGGCCGTTGGT-exonicHNF1Bframeshift KIPAN|1|799|0.00125,KIRP|1|282|0.00355
-chr173609944336099443CTexonicHNF1Bnonsynonymous BLCA|1|396|0.00253
-chr173609958236099582TCexonicHNF1Bsynonymous KIPAN|1|799|0.00125,KIRP|1|282|0.00355
-chr173607054036070549GGCCTGGGTC-exonicHNF1Bframeshift OV|1|469|0.00213
-chr173609360536093605GTexonicHNF1Bsynonymous LUSC|1|178|0.00562
-chr173609947336099473GCexonicHNF1Bnonsynonymous CESC|1|194|0.00515
-chr173607061536070615GAexonicHNF1Bnonsynonymous BLCA|1|396|0.00253
-chr173606499736064997GAexonicHNF1Bsynonymous SKCM|1|368|0.00272
-chr173609951936099519CTexonicHNF1Bsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
rs377555356chr173609370136093701CTexonicHNF1Bnonsynonymous SKCM|1|368|0.00272
-chr173609177836091778CTexonicHNF1Bnonsynonymous PRAD|1|499|0.00200,STAD|1|395|0.00253,STES|1|395|0.00253
-chr173609358436093584CTexonicHNF1Bnonsynonymous SKCM|1|368|0.00272
-chr173610454336104543GAexonicHNF1Bsynonymous HNSC|1|512|0.00195
-chr173609377636093776CTexonicHNF1Bnonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr173605915236059152AGexonicHNF1Bnonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
-chr173609362336093623AGexonicHNF1Bsynonymous BLCA|1|396|0.00253
-chr173606497236064972GCexonicHNF1Bnonsynonymous HNSC|1|512|0.00195
-chr173606503336065033CAexonicHNF1Bnonsynonymous PAAD|1|185|0.00541
rs780554506chr173605919636059196GAexonicHNF1Bsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr173606501336065013GAexonicHNF1Bnonsynonymous GBM|2|290|0.00690,GBMLGG|2|820|0.00244
-chr173606493536064935GCexonicHNF1Bnonsynonymous HNSC|1|512|0.00195
rs757452269chr173609947636099476CTexonicHNF1Bnonsynonymous UCEC|1|248|0.00403
-chr173609161936091619GAexonicHNF1Bstopgain LIHC|1|373|0.00268
-chr173609366436093664CAexonicHNF1Bnonsynonymous SKCM|1|368|0.00272
-chr173606502636065026CAexonicHNF1Bnonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr173610474636104746CGexonicHNF1Bnonsynonymous CESC|1|194|0.00515
-chr173606498436064984GAexonicHNF1Bnonsynonymous SKCM|1|368|0.00272
-chr173609171936091719CTexonicHNF1Bsynonymous SKCM|1|368|0.00272
-chr173609377836093778GCexonicHNF1Bnonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr173605917436059174G-exonicHNF1Bframeshift STAD|2|395|0.00506,STES|2|395|0.00506
-chr173607054636070555GGTCCAGGCT-exonicHNF1Bframeshift UCEC|1|248|0.00403
rs148713761chr173609370236093702GAexonicHNF1Bsynonymous CESC|1|194|0.00515
-chr173610479736104797CAexonicHNF1Bnonsynonymous LUAD|1|543|0.00184
rs866277746chr173609955436099554CTexonicHNF1Bnonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr173609944136099441CTexonicHNF1Bsynonymous SKCM|1|368|0.00272
-chr173609943136099431GAexonicHNF1Bstopgain BRCA|1|982|0.00102,PCPG|1|184|0.00543
-chr173609163036091630GAexonicHNF1Bnonsynonymous SKCM|1|368|0.00272
-chr173609361336093613GTexonicHNF1Bnonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr173610462736104627GTexonicHNF1Bsynonymous TGCT|1|155|0.00645
-chr173609960336099603CTexonicHNF1Bnonsynonymous SKCM|1|368|0.00272
-chr173605911936059119CAexonicHNF1Bnonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr173606103736061037CTexonicHNF1Bnonsynonymous SKCM|1|368|0.00272
-chr173609366436093664CTexonicHNF1Bnonsynonymous OV|1|469|0.00213
-chr173606501536065015CTexonicHNF1Bsynonymous STAD|1|395|0.00253,STES|1|395|0.00253

Disease information of HNF1B
TF_name Disease_name Disease_class Disease_semantic_type TF_disease_source
HNF1B Renal Cell Carcinoma C04;C12;C13 Neoplastic Process CTD_human
HNF1B Cholestasis C06 Disease or Syndrome GENOMICS_ENGLAND
HNF1B Diabetes Mellitus, Non-Insulin-Dependent C18;C19 Disease or Syndrome CTD_human;UNIPROT
HNF1B Prostatic Neoplasms C04;C12 Neoplastic Process CTD_human
HNF1B Conventional (Clear Cell) Renal Cell Carcinoma C04;C12;C13 Neoplastic Process CTD_human
HNF1B Malignant neoplasm of prostate C04;C12 Neoplastic Process CTD_human
HNF1B Renal cysts and diabetes syndrome C10;C12;C13;C18;C19 Disease or Syndrome CTD_human;ORPHANET;UNIPROT
HNF1B Cholestasis in newborn Disease or Syndrome GENOMICS_ENGLAND
HNF1B Chromophobe Renal Cell Carcinoma C04;C12;C13 Neoplastic Process CTD_human
HNF1B Sarcomatoid Renal Cell Carcinoma C04;C12;C13 Neoplastic Process CTD_human
HNF1B Collecting Duct Carcinoma of the Kidney C04;C12;C13 Neoplastic Process CTD_human
HNF1B Papillary Renal Cell Carcinoma C04;C12;C13 Neoplastic Process CTD_human
HNF1B Unilateral Multicystic Dysplastic Kidney C12;C13;C16 Congenital Abnormality; Disease or Syndrome ORPHANET
HNF1B Bilateral Multicystic Dysplastic Kidneys C12;C13;C16 Congenital Abnormality; Disease or Syndrome ORPHANET
HNF1B Cystic Kidney Diseases C12;C13 Disease or Syndrome GENOMICS_ENGLAND
HNF1B Hypomagnesemia 2, renal C12;C13;C16;C18 Disease or Syndrome ORPHANET
HNF1B MULTICYSTIC RENAL DYSPLASIA, BILATERAL C12;C13;C16 Disease or Syndrome ORPHANET
HNF1B INSULIN RESISTANCE, SUSCEPTIBILITY TO Finding UNIPROT
HNF1B Cakut C12;C13;C16 Disease or Syndrome GENOMICS_ENGLAND
HNF1B Prostate cancer, familial C04;C12 Neoplastic Process ORPHANET
HNF1B CHROMOSOME 17q12 DELETION SYNDROME Disease or Syndrome ORPHANET
HNF1B DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST Finding UNIPROT
HNF1B Ciliopathies C16 Congenital Abnormality GENOMICS_ENGLAND

Pathway associated with HNF1B
pathway_ID pathway_name pathway_source gene_number edge_number
pathway0001835 Regulation of gene expression in early pancreatic precursor cells reactome 8 8
pathway0001837 Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells reactome 7 9
pathway0002631 Maturity onset diabetes of the young kegg 25 76

Go term information of HNF1B
GO_term_name GO_term_type TF_name
GO_NEGATIVE_REGULATION_OF_KIDNEY_DEVELOPMENT BP HNF1B
GO_REGULATION_OF_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE BP HNF1B
GO_AMIDE_TRANSPORT BP HNF1B
GO_NEGATIVE_REGULATION_OF_STEM_CELL_DIFFERENTIATION BP HNF1B
GO_PROTEIN_SECRETION BP HNF1B
GO_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION BP HNF1B
GO_INSULIN_SECRETION BP HNF1B
GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER BP HNF1B
GO_HORMONE_TRANSPORT BP HNF1B
GO_CIRCADIAN_REGULATION_OF_GENE_EXPRESSION BP HNF1B
GO_KIDNEY_EPITHELIUM_DEVELOPMENT BP HNF1B
GO_BLASTOCYST_FORMATION BP HNF1B
GO_PEPTIDE_SECRETION BP HNF1B
GO_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM BP HNF1B
GO_REGULATION_OF_MESONEPHROS_DEVELOPMENT BP HNF1B
GO_PANCREAS_DEVELOPMENT BP HNF1B
GO_EMBRYONIC_DIGESTIVE_TRACT_MORPHOGENESIS BP HNF1B
GO_DIGESTIVE_SYSTEM_DEVELOPMENT BP HNF1B
GO_NEPHRIC_DUCT_DEVELOPMENT BP HNF1B
GO_REGULATION_OF_KIDNEY_DEVELOPMENT BP HNF1B
GO_CELL_FATE_COMMITMENT_INVOLVED_IN_FORMATION_OF_PRIMARY_GERM_LAYER BP HNF1B
GO_REGULATION_OF_MESENCHYMAL_CELL_APOPTOTIC_PROCESS BP HNF1B
GO_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION BP HNF1B
GO_NEPHRON_EPITHELIUM_DEVELOPMENT BP HNF1B
GO_EMBRYONIC_DIGESTIVE_TRACT_DEVELOPMENT BP HNF1B
GO_ENDOCRINE_PANCREAS_DEVELOPMENT BP HNF1B
GO_ENDODERMAL_CELL_DIFFERENTIATION BP HNF1B
GO_ORGAN_MORPHOGENESIS BP HNF1B
GO_DIGESTIVE_TRACT_MORPHOGENESIS BP HNF1B
GO_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION BP HNF1B
GO_REGULATION_OF_CELL_DIFFERENTIATION BP HNF1B
GO_MESONEPHRIC_TUBULE_MORPHOGENESIS BP HNF1B
GO_BLASTOCYST_DEVELOPMENT BP HNF1B
GO_GASTRULATION BP HNF1B
GO_ENDODERM_DEVELOPMENT BP HNF1B
GO_REGULATION_OF_STEM_CELL_POPULATION_MAINTENANCE BP HNF1B
GO_REGULATION_OF_GASTRULATION BP HNF1B
GO_POSITIVE_REGULATION_OF_PROTEIN_COMPLEX_ASSEMBLY BP HNF1B
GO_REGULATION_OF_METANEPHROS_DEVELOPMENT BP HNF1B
GO_ENDODERM_FORMATION BP HNF1B
GO_EPITHELIAL_CELL_PROLIFERATION BP HNF1B
GO_REGULATION_OF_CELL_FATE_SPECIFICATION BP HNF1B
GO_CELL_FATE_SPECIFICATION BP HNF1B
GO_KIDNEY_MORPHOGENESIS BP HNF1B
GO_DEVELOPMENTAL_GROWTH_INVOLVED_IN_MORPHOGENESIS BP HNF1B
GO_NEPHRON_TUBULE_FORMATION BP HNF1B
GO_NEPHRON_DEVELOPMENT BP HNF1B
GO_GENITALIA_DEVELOPMENT BP HNF1B
GO_BRANCHING_MORPHOGENESIS_OF_AN_EPITHELIAL_TUBE BP HNF1B
GO_MESONEPHROS_DEVELOPMENT BP HNF1B
GO_ENDODERMAL_CELL_FATE_COMMITMENT BP HNF1B
GO_NEPHRIC_DUCT_MORPHOGENESIS BP HNF1B
GO_PEPTIDE_TRANSPORT BP HNF1B
GO_REGULATION_OF_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER BP HNF1B
GO_REGULATION_OF_CELL_FATE_COMMITMENT BP HNF1B
GO_REGULATION_OF_STEM_CELL_DIFFERENTIATION BP HNF1B
GO_TRANSCRIPTION_FACTOR_COMPLEX CC HNF1B
GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_DISTAL_ENHANCER_SEQUENCE_SPECIFIC_BINDING MF HNF1B
GO_NUCLEIC_ACID_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY MF HNF1B

Survival analysis of HNF1B



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

Expression of HNF1B