Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KRTAP5-2 (keratin associated protein 5-2)

Identity

Alias (NCBI)KRTAP5-8
KRTAP5.2
HGNC (Hugo) KRTAP5-2
HGNC Alias symbKRTAP5.2
KRTAP5-8
LocusID (NCBI) 440021
Atlas_Id 65122
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 1597177 and ends at 1598294 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACVR2B (3p22.2) / KRTAP5-2 (11p15.5)

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) [ 1 ]
  t(3;11)(p22;p15) ACVR2B/KRTAP5-2

External links

Nomenclature
HGNC (Hugo)KRTAP5-2   23597
Cards
Entrez_Gene (NCBI)KRTAP5-2    keratin associated protein 5-2
AliasesKRTAP5-8; KRTAP5.2
GeneCards (Weizmann)KRTAP5-2
Ensembl hg19 (Hinxton)ENSG00000205867 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000205867 [Gene_View]  ENSG00000205867 [Sequence]  chr11:1597177-1598294 [Contig_View]  KRTAP5-2 [Vega]
ICGC DataPortalENSG00000205867
TCGA cBioPortalKRTAP5-2
AceView (NCBI)KRTAP5-2
Genatlas (Paris)KRTAP5-2
SOURCE (Princeton)KRTAP5-2
Genetics Home Reference (NIH)KRTAP5-2
Genomic and cartography
GoldenPath hg38 (UCSC)KRTAP5-2  -     chr11:1597177-1598294 -  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KRTAP5-2  -     11p15.5   [Description]    (hg19-Feb_2009)
GoldenPathKRTAP5-2 - 11p15.5 [CytoView hg19]  KRTAP5-2 - 11p15.5 [CytoView hg38]
ImmunoBaseENSG00000205867
genome Data Viewer NCBIKRTAP5-2 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AB126071 AJ628245 BC132882 BC132908
RefSeq transcript (Entrez)NM_001004325
RefSeq genomic (Entrez)NC_000011 NT_187584 NT_187657
Consensus coding sequences : CCDS (NCBI)KRTAP5-2
Alternative Splicing GalleryENSG00000205867
Gene ExpressionKRTAP5-2 [ NCBI-GEO ]   KRTAP5-2 [ EBI - ARRAY_EXPRESS ]   KRTAP5-2 [ SEEK ]   KRTAP5-2 [ MEM ]
Gene Expression Viewer (FireBrowse)KRTAP5-2 [ Firebrowse - Broad ]
GenevisibleExpression of KRTAP5-2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)440021
GTEX Portal (Tissue expression)KRTAP5-2
Human Protein AtlasENSG00000205867-KRTAP5-2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ701N4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ701N4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ701N4
Splice isoforms : SwissVarQ701N4
PhosPhoSitePlusQ701N4
Domains : Interpro (EBI)KAP   
Domain families : Pfam (Sanger)Keratin_B2_2 (PF13885)   
Domain families : Pfam (NCBI)pfam13885   
Conserved Domain (NCBI)KRTAP5-2
Blocks (Seattle)KRTAP5-2
SuperfamilyQ701N4
Human Protein Atlas [tissue]ENSG00000205867-KRTAP5-2 [tissue]
Peptide AtlasQ701N4
HPRD17249
IPIIPI00555784   
Protein Interaction databases
DIP (DOE-UCLA)Q701N4
IntAct (EBI)Q701N4
BioGRIDKRTAP5-2
STRING (EMBL)KRTAP5-2
ZODIACKRTAP5-2
Ontologies - Pathways
QuickGOQ701N4
Ontology : AmiGOcytosol  keratinization  keratin filament  
Ontology : EGO-EBIcytosol  keratinization  keratin filament  
NDEx NetworkKRTAP5-2
Atlas of Cancer Signalling NetworkKRTAP5-2
Wikipedia pathwaysKRTAP5-2
Orthology - Evolution
OrthoDB440021
GeneTree (enSembl)ENSG00000205867
Phylogenetic Trees/Animal Genes : TreeFamKRTAP5-2
HOGENOMQ701N4
Homologs : HomoloGeneKRTAP5-2
Homology/Alignments : Family Browser (UCSC)KRTAP5-2
Gene fusions - Rearrangements
Fusion : QuiverKRTAP5-2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKRTAP5-2 [hg38]
dbVarKRTAP5-2
ClinVarKRTAP5-2
MonarchKRTAP5-2
1000_GenomesKRTAP5-2 
Exome Variant ServerKRTAP5-2
GNOMAD BrowserENSG00000205867
Varsome BrowserKRTAP5-2
Genomic Variants (DGV)KRTAP5-2 [DGVbeta]
DECIPHERKRTAP5-2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKRTAP5-2 
Mutations
ICGC Data PortalKRTAP5-2 
TCGA Data PortalKRTAP5-2 
Broad Tumor PortalKRTAP5-2
OASIS PortalKRTAP5-2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKRTAP5-2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKRTAP5-2
Mutations and Diseases : HGMDKRTAP5-2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KRTAP5-2
DgiDB (Drug Gene Interaction Database)KRTAP5-2
DoCM (Curated mutations)KRTAP5-2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KRTAP5-2 (select a term)
intoGenKRTAP5-2
Cancer3DKRTAP5-2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETKRTAP5-2
MedgenKRTAP5-2
Genetic Testing Registry KRTAP5-2
NextProtQ701N4 [Medical]
GENETestsKRTAP5-2
Target ValidationKRTAP5-2
Huge Navigator KRTAP5-2 [HugePedia]
ClinGenKRTAP5-2
Clinical trials, drugs, therapy
MyCancerGenomeKRTAP5-2
Protein Interactions : CTD
Pharm GKB GenePA134981423
Clinical trialKRTAP5-2
Miscellaneous
canSAR (ICR)KRTAP5-2 (select the gene name)
HarmonizomeKRTAP5-2
DataMed IndexKRTAP5-2
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKRTAP5-2
EVEXKRTAP5-2
GoPubMedKRTAP5-2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:59:26 CET 2020
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