Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HNF1A (HNF1 homeobox A)

Identity

Other namesHNF-1A
HNF1
IDDM20
LFB1
MODY3
TCF-1
TCF1
HGNC (Hugo) HNF1A
LocusID (NCBI) 6927
Atlas_Id 470
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 121416371 and ends at 121440314 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CMKLR1 (12q23.3) / HNF1A (12q24.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Liver: Adenoma

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Familial liver adenomatosis

External links

Nomenclature
HGNC (Hugo)HNF1A   11621
Cards
Entrez_Gene (NCBI)HNF1A  6927  HNF1 homeobox A
AliasesHNF-1A; HNF1; IDDM20; LFB1; 
MODY3; TCF-1; TCF1
GeneCards (Weizmann)HNF1A
Ensembl hg19 (Hinxton)ENSG00000135100 [Gene_View]  chr12:121416371-121440314 [Contig_View]  HNF1A [Vega]
Ensembl hg38 (Hinxton)ENSG00000135100 [Gene_View]  chr12:121416371-121440314 [Contig_View]  HNF1A [Vega]
ICGC DataPortalENSG00000135100
TCGA cBioPortalHNF1A
AceView (NCBI)HNF1A
Genatlas (Paris)HNF1A
WikiGenes6927
SOURCE (Princeton)HNF1A
Genomic and cartography
GoldenPath hg19 (UCSC)HNF1A  -     chr12:121416371-121440314 +  12q24.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HNF1A  -     12q24.31   [Description]    (hg38-Dec_2013)
EnsemblHNF1A - 12q24.31 [CytoView hg19]  HNF1A - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBIHNF1A [Mapview hg19]  HNF1A [Mapview hg38]
OMIM125853   142330   142410   144700   222100   600496   612520   
Gene and transcription
Genbank (Entrez)AK298422 AW294801 BC104908 BC104910 BC143483
RefSeq transcript (Entrez)NM_000545 NM_001306179
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_011731 NT_029419 NW_004929385
Consensus coding sequences : CCDS (NCBI)HNF1A
Cluster EST : UnigeneHs.654455 [ NCBI ]
CGAP (NCI)Hs.654455
Alternative Splicing GalleryENSG00000135100
Gene ExpressionHNF1A [ NCBI-GEO ]   HNF1A [ EBI - ARRAY_EXPRESS ]   HNF1A [ SEEK ]   HNF1A [ MEM ]
Gene Expression Viewer (FireBrowse)HNF1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6927
GTEX Portal (Tissue expression)HNF1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20823 (Uniprot)
NextProtP20823  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20823
Splice isoforms : SwissVarP20823 (Swissvar)
PhosPhoSitePlusP20823
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)HNF-1_N    HNF1_dimer_dom    HNF1a_C    HNF1b_C    Homeobox_dom    Homeodomain-like    Lambda_DNA-bd_dom   
Domain families : Pfam (Sanger)HNF-1_N (PF04814)    HNF-1A_C (PF04813)    HNF-1B_C (PF04812)    Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam04814    pfam04813    pfam04812    pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
DMDM Disease mutations6927
Blocks (Seattle)HNF1A
PDB (SRS)1IC8    2GYP   
PDB (PDBSum)1IC8    2GYP   
PDB (IMB)1IC8    2GYP   
PDB (RSDB)1IC8    2GYP   
Structural Biology KnowledgeBase1IC8    2GYP   
SCOP (Structural Classification of Proteins)1IC8    2GYP   
CATH (Classification of proteins structures)1IC8    2GYP   
SuperfamilyP20823
Human Protein AtlasENSG00000135100
Peptide AtlasP20823
HPRD00800
IPIIPI00025839   IPI00411416   IPI00219056   IPI01013668   IPI00971187   IPI01012243   IPI01009840   IPI01018182   IPI00979621   IPI01012412   IPI00981532   IPI00971064   IPI01013500   IPI00972971   IPI00972937   IPI01014756   
Protein Interaction databases
DIP (DOE-UCLA)P20823
IntAct (EBI)P20823
FunCoupENSG00000135100
BioGRIDHNF1A
STRING (EMBL)HNF1A
ZODIACHNF1A
Ontologies - Pathways
QuickGOP20823
Ontology : AmiGOtranscriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  cytoplasm  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  insulin secretion  regulation of pronephros size  renal glucose absorption  glucose homeostasis  protein homodimerization activity  protein complex  transcription regulatory region DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  glucose import  protein heterodimerization activity  protein dimerization activity  positive regulation of transcription initiation from RNA polymerase II promoter  
Ontology : EGO-EBItranscriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  cytoplasm  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  insulin secretion  regulation of pronephros size  renal glucose absorption  glucose homeostasis  protein homodimerization activity  protein complex  transcription regulatory region DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  glucose import  protein heterodimerization activity  protein dimerization activity  positive regulation of transcription initiation from RNA polymerase II promoter  
Pathways : BIOCARTAGrowth Hormone Signaling Pathway [Genes]    WNT Signaling Pathway [Genes]    Presenilin action in Notch and Wnt signaling [Genes]    Segmentation Clock [Genes]    Role of MAL in Rho-Mediated Activation of SRF [Genes]    ALK in cardiac myocytes [Genes]   
Pathways : KEGGMaturity onset diabetes of the young   
NDEx NetworkHNF1A
Atlas of Cancer Signalling NetworkHNF1A
Wikipedia pathwaysHNF1A
Orthology - Evolution
OrthoDB6927
GeneTree (enSembl)ENSG00000135100
Phylogenetic Trees/Animal Genes : TreeFamHNF1A
Homologs : HomoloGeneHNF1A
Homology/Alignments : Family Browser (UCSC)HNF1A
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerHNF1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HNF1A
dbVarHNF1A
ClinVarHNF1A
1000_GenomesHNF1A 
Exome Variant ServerHNF1A
ExAC (Exome Aggregation Consortium)HNF1A (select the gene name)
Genetic variants : HAPMAP6927
Genomic Variants (DGV)HNF1A [DGVbeta]
Mutations
ICGC Data PortalHNF1A 
TCGA Data PortalHNF1A 
Broad Tumor PortalHNF1A
OASIS PortalHNF1A [ Somatic mutations - Copy number]
Cancer Gene: CensusHNF1A 
Somatic Mutations in Cancer : COSMICHNF1A 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Monogenic Diabetes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HNF1A
DgiDB (Drug Gene Interaction Database)HNF1A
DoCM (Curated mutations)HNF1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HNF1A (select a term)
intoGenHNF1A
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:121416371-121440314  ENSG00000135100
CONAN: Copy Number AnalysisHNF1A 
Mutations and Diseases : HGMDHNF1A
OMIM125853    142330    142410    144700    222100    600496    612520   
MedgenHNF1A
Genetic Testing Registry HNF1A
NextProtP20823 [Medical]
TSGene6927
GENETestsHNF1A
Huge Navigator HNF1A [HugePedia]
snp3D : Map Gene to Disease6927
BioCentury BCIQHNF1A
ClinGenHNF1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6927
Chemical/Pharm GKB GenePA36380
Clinical trialHNF1A
Miscellaneous
canSAR (ICR)HNF1A (select the gene name)
Probes
Litterature
PubMed381 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHNF1A
EVEXHNF1A
GoPubMedHNF1A
iHOPHNF1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 19 18:53:16 CEST 2016

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