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IGHV3-48 (immunoglobulin heavy variable 3-48)

Identity

Other aliasIGHV348
VH
HGNC (Hugo) IGHV3-48
LocusID (NCBI) 28424
Atlas_Id 64554
Location 14_KI270846v1_alt  [Link to chromosome band 14]
Location_base_pair Starts at 332359 and ends at 703126 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


External links

Nomenclature
HGNC (Hugo)IGHV3-48   5606
Cards
Entrez_Gene (NCBI)IGHV3-48  28424  immunoglobulin heavy variable 3-48
AliasesIGHV348; VH
GeneCards (Weizmann)IGHV3-48
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr14_KI270846v1_alt:332359-703126 [Contig_View]  IGHV3-48 [Vega]
TCGA cBioPortalIGHV3-48
AceView (NCBI)IGHV3-48
Genatlas (Paris)IGHV3-48
WikiGenes28424
SOURCE (Princeton)IGHV3-48
Genetics Home Reference (NIH)IGHV3-48
Genomic and cartography
GoldenPath hg38 (UCSC)IGHV3-48  -     chr14_KI270846v1_alt:332359-703126 -  14_KI270846v1_alt   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IGHV3-48  -     14_KI270846v1_alt   [Description]    (hg19-Feb_2009)
EnsemblIGHV3-48 - 14_KI270846v1_alt [CytoView hg19]  IGHV3-48 - 14_KI270846v1_alt [CytoView hg38]
Mapping of homologs : NCBIIGHV3-48 [Mapview hg19]  IGHV3-48 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF035023
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_001019 NT_187600
Consensus coding sequences : CCDS (NCBI)IGHV3-48
Cluster EST : UnigeneHs.703936 [ NCBI ]
CGAP (NCI)Hs.703936
Gene ExpressionIGHV3-48 [ NCBI-GEO ]   IGHV3-48 [ EBI - ARRAY_EXPRESS ]   IGHV3-48 [ SEEK ]   IGHV3-48 [ MEM ]
Gene Expression Viewer (FireBrowse)IGHV3-48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)28424
GTEX Portal (Tissue expression)IGHV3-48
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01763   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP01763  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01763
Splice isoforms : SwissVarP01763
PhosPhoSitePlusP01763
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_V-set   
Domain families : Pfam (Sanger)V-set (PF07686)   
Domain families : Pfam (NCBI)pfam07686   
Domain families : Smart (EMBL)IGv (SM00406)  
Conserved Domain (NCBI)IGHV3-48
DMDM Disease mutations28424
Blocks (Seattle)IGHV3-48
SuperfamilyP01763
Peptide AtlasP01763
IPIIPI00854841   
Protein Interaction databases
DIP (DOE-UCLA)P01763
IntAct (EBI)P01763
BioGRIDIGHV3-48
STRING (EMBL)IGHV3-48
ZODIACIGHV3-48
Ontologies - Pathways
QuickGOP01763
Ontology : AmiGOantigen binding  serine-type endopeptidase activity  extracellular region  extracellular region  plasma membrane  proteolysis  receptor-mediated endocytosis  immune response  complement activation  complement activation, classical pathway  Fc-epsilon receptor signaling pathway  Fc-gamma receptor signaling pathway involved in phagocytosis  regulation of immune response  leukocyte migration  
Ontology : EGO-EBIantigen binding  serine-type endopeptidase activity  extracellular region  extracellular region  plasma membrane  proteolysis  receptor-mediated endocytosis  immune response  complement activation  complement activation, classical pathway  Fc-epsilon receptor signaling pathway  Fc-gamma receptor signaling pathway involved in phagocytosis  regulation of immune response  leukocyte migration  
NDEx NetworkIGHV3-48
Atlas of Cancer Signalling NetworkIGHV3-48
Wikipedia pathwaysIGHV3-48
Orthology - Evolution
OrthoDB28424
Phylogenetic Trees/Animal Genes : TreeFamIGHV3-48
HOVERGENP01763
HOGENOMP01763
Homologs : HomoloGeneIGHV3-48
Homology/Alignments : Family Browser (UCSC)IGHV3-48
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIGHV3-48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IGHV3-48
dbVarIGHV3-48
ClinVarIGHV3-48
1000_GenomesIGHV3-48 
Exome Variant ServerIGHV3-48
ExAC (Exome Aggregation Consortium)IGHV3-48 (select the gene name)
Genetic variants : HAPMAP28424
Genomic Variants (DGV)IGHV3-48 [DGVbeta]
DECIPHERIGHV3-48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIGHV3-48 
Mutations
ICGC Data PortalIGHV3-48 
TCGA Data PortalIGHV3-48 
Broad Tumor PortalIGHV3-48
OASIS PortalIGHV3-48 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDIGHV3-48
BioMutasearch IGHV3-48
DgiDB (Drug Gene Interaction Database)IGHV3-48
DoCM (Curated mutations)IGHV3-48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IGHV3-48 (select a term)
intoGenIGHV3-48
Cancer3DIGHV3-48(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenIGHV3-48
Genetic Testing Registry IGHV3-48
NextProtP01763 [Medical]
TSGene28424
GENETestsIGHV3-48
Target ValidationIGHV3-48
Huge Navigator IGHV3-48 [HugePedia]
snp3D : Map Gene to Disease28424
BioCentury BCIQIGHV3-48
ClinGenIGHV3-48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD28424
Chemical/Pharm GKB GenePA35205
Clinical trialIGHV3-48
Miscellaneous
canSAR (ICR)IGHV3-48 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIGHV3-48
EVEXIGHV3-48
GoPubMedIGHV3-48
iHOPIGHV3-48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:11:03 CEST 2017

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