Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PTF1A (pancreas specific transcription factor, 1a)

Identity

Alias_symbol (synonym)PTF1-p48
bHLHa29
Other aliasPACA
PAGEN2
HGNC (Hugo) PTF1A
LocusID (NCBI) 256297
Atlas_Id 55733
Location 10p12.2  [Link to chromosome band 10p12]
Location_base_pair Starts at 23192531 and ends at 23194252 bp from pter ( according to hg38-Dec_2013)

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

 

External links

Nomenclature
HGNC (Hugo)PTF1A   23734
Cards
Entrez_Gene (NCBI)PTF1A  256297  pancreas specific transcription factor, 1a
AliasesPACA; PAGEN2; PTF1-p48; bHLHa29
GeneCards (Weizmann)PTF1A
Ensembl hg19 (Hinxton)ENSG00000168267 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168267 [Gene_View]  chr10:23192531-23194252 [Contig_View]  PTF1A [Vega]
ICGC DataPortalENSG00000168267
TCGA cBioPortalPTF1A
AceView (NCBI)PTF1A
Genatlas (Paris)PTF1A
WikiGenes256297
SOURCE (Princeton)PTF1A
Genetics Home Reference (NIH)PTF1A
Genomic and cartography
GoldenPath hg38 (UCSC)PTF1A  -     chr10:23192531-23194252 +  10p12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTF1A  -     10p12.2   [Description]    (hg19-Feb_2009)
EnsemblPTF1A - 10p12.2 [CytoView hg19]  PTF1A - 10p12.2 [CytoView hg38]
Mapping of homologs : NCBIPTF1A [Mapview hg19]  PTF1A [Mapview hg38]
OMIM607194   609069   615935   
Gene and transcription
Genbank (Entrez)AF181999 BC172252 BC172557 BM055347 CK904916
RefSeq transcript (Entrez)NM_178161
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PTF1A
Cluster EST : UnigeneHs.351503 [ NCBI ]
CGAP (NCI)Hs.351503
Alternative Splicing GalleryENSG00000168267
Gene ExpressionPTF1A [ NCBI-GEO ]   PTF1A [ EBI - ARRAY_EXPRESS ]   PTF1A [ SEEK ]   PTF1A [ MEM ]
Gene Expression Viewer (FireBrowse)PTF1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)256297
GTEX Portal (Tissue expression)PTF1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7RTS3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7RTS3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7RTS3
Splice isoforms : SwissVarQ7RTS3
PhosPhoSitePlusQ7RTS3
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)PTF1A
DMDM Disease mutations256297
Blocks (Seattle)PTF1A
SuperfamilyQ7RTS3
Human Protein AtlasENSG00000168267
Peptide AtlasQ7RTS3
HPRD09526
IPIIPI00160766   
Protein Interaction databases
DIP (DOE-UCLA)Q7RTS3
IntAct (EBI)Q7RTS3
FunCoupENSG00000168267
BioGRIDPTF1A
STRING (EMBL)PTF1A
ZODIACPTF1A
Ontologies - Pathways
QuickGOQ7RTS3
Ontology : AmiGORNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  chromatin binding  nucleus  transcription factor complex  cytoplasm  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  embryo development  tissue development  retina layer formation  cerebellum development  pancreas development  exocrine pancreas development  amacrine cell differentiation  positive regulation of transcription from RNA polymerase II promoter  protein dimerization activity  retinoic acid receptor signaling pathway  neuron fate commitment  regulation of neural retina development  E-box binding  
Ontology : EGO-EBIRNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  chromatin binding  nucleus  transcription factor complex  cytoplasm  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  embryo development  tissue development  retina layer formation  cerebellum development  pancreas development  exocrine pancreas development  amacrine cell differentiation  positive regulation of transcription from RNA polymerase II promoter  protein dimerization activity  retinoic acid receptor signaling pathway  neuron fate commitment  regulation of neural retina development  E-box binding  
NDEx NetworkPTF1A
Atlas of Cancer Signalling NetworkPTF1A
Wikipedia pathwaysPTF1A
Orthology - Evolution
OrthoDB256297
GeneTree (enSembl)ENSG00000168267
Phylogenetic Trees/Animal Genes : TreeFamPTF1A
HOVERGENQ7RTS3
HOGENOMQ7RTS3
Homologs : HomoloGenePTF1A
Homology/Alignments : Family Browser (UCSC)PTF1A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTF1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTF1A
dbVarPTF1A
ClinVarPTF1A
1000_GenomesPTF1A 
Exome Variant ServerPTF1A
ExAC (Exome Aggregation Consortium)PTF1A (select the gene name)
Genetic variants : HAPMAP256297
Genomic Variants (DGV)PTF1A [DGVbeta]
DECIPHERPTF1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTF1A 
Mutations
ICGC Data PortalPTF1A 
TCGA Data PortalPTF1A 
Broad Tumor PortalPTF1A
OASIS PortalPTF1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTF1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTF1A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PTF1A
DgiDB (Drug Gene Interaction Database)PTF1A
DoCM (Curated mutations)PTF1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTF1A (select a term)
intoGenPTF1A
Cancer3DPTF1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607194    609069    615935   
Orphanet2548    10870   
MedgenPTF1A
Genetic Testing Registry PTF1A
NextProtQ7RTS3 [Medical]
TSGene256297
GENETestsPTF1A
Target ValidationPTF1A
Huge Navigator PTF1A [HugePedia]
snp3D : Map Gene to Disease256297
BioCentury BCIQPTF1A
ClinGenPTF1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD256297
Chemical/Pharm GKB GenePA134864129
Clinical trialPTF1A
Miscellaneous
canSAR (ICR)PTF1A (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTF1A
EVEXPTF1A
GoPubMedPTF1A
iHOPPTF1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:12:02 CEST 2017
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