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ERVH48-1 (endogenous retrovirus group 48 member 1)

Identity

Alias (NCBI)C21orf105
NDUFV3-AS1
HGNC (Hugo) ERVH48-1
HGNC Previous nameC21orf105
 NDUFV3-AS1
HGNC Previous namechromosome 21 open reading frame 105
 NDUFV3 antisense RNA 1 (non-protein coding)
 endogenous retrovirus group 48, member 1
LocusID (NCBI) 90625
Atlas_Id 62909
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 42917251 and ends at 42925598 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)

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)ERVH48-1   17216
Cards
Entrez_Gene (NCBI)ERVH48-1  90625  endogenous retrovirus group 48 member 1
AliasesC21orf105; NDUFV3-AS1
GeneCards (Weizmann)ERVH48-1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  chr21:42917251-42925598 [Contig_View]  ERVH48-1 [Vega]
TCGA cBioPortalERVH48-1
AceView (NCBI)ERVH48-1
Genatlas (Paris)ERVH48-1
WikiGenes90625
SOURCE (Princeton)ERVH48-1
Genetics Home Reference (NIH)ERVH48-1
Genomic and cartography
GoldenPath hg38 (UCSC)ERVH48-1  -     chr21:42917251-42925598 -  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERVH48-1  -     21q22.3   [Description]    (hg19-Feb_2009)
GoldenPathERVH48-1 - 21q22.3 [CytoView hg19]  ERVH48-1 - 21q22.3 [CytoView hg38]
genome Data Viewer NCBIERVH48-1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AB610407 BC005107
RefSeq transcript (Entrez)NM_001308491
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ERVH48-1
Gene ExpressionERVH48-1 [ NCBI-GEO ]   ERVH48-1 [ EBI - ARRAY_EXPRESS ]   ERVH48-1 [ SEEK ]   ERVH48-1 [ MEM ]
Gene Expression Viewer (FireBrowse)ERVH48-1 [ Firebrowse - Broad ]
GenevisibleExpression of ERVH48-1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90625
GTEX Portal (Tissue expression)ERVH48-1
Protein : pattern, domain, 3D structure
UniProt/SwissProtM5A8F1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtM5A8F1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProM5A8F1
Splice isoforms : SwissVarM5A8F1
PhosPhoSitePlusM5A8F1
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ERVH48-1
DMDM Disease mutations90625
Blocks (Seattle)ERVH48-1
SuperfamilyM5A8F1
Peptide AtlasM5A8F1
IPIIPI00029542   IPI00847371   
Protein Interaction databases
DIP (DOE-UCLA)M5A8F1
IntAct (EBI)M5A8F1
BioGRIDERVH48-1
STRING (EMBL)ERVH48-1
ZODIACERVH48-1
Ontologies - Pathways
QuickGOM5A8F1
Ontology : AmiGOprotein binding  extracellular space  plasma membrane  syncytium formation  
Ontology : EGO-EBIprotein binding  extracellular space  plasma membrane  syncytium formation  
NDEx NetworkERVH48-1
Atlas of Cancer Signalling NetworkERVH48-1
Wikipedia pathwaysERVH48-1
Orthology - Evolution
OrthoDB90625
Phylogenetic Trees/Animal Genes : TreeFamERVH48-1
HOGENOMM5A8F1
Homologs : HomoloGeneERVH48-1
Homology/Alignments : Family Browser (UCSC)ERVH48-1
Gene fusions - Rearrangements
Fusion : QuiverERVH48-1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERVH48-1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERVH48-1
dbVarERVH48-1
ClinVarERVH48-1
1000_GenomesERVH48-1 
Exome Variant ServerERVH48-1
Varsome BrowserERVH48-1
Genetic variants : HAPMAP90625
Genomic Variants (DGV)ERVH48-1 [DGVbeta]
DECIPHERERVH48-1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERVH48-1 
Mutations
ICGC Data PortalERVH48-1 
TCGA Data PortalERVH48-1 
Broad Tumor PortalERVH48-1
OASIS PortalERVH48-1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDERVH48-1
BioMutasearch ERVH48-1
DgiDB (Drug Gene Interaction Database)ERVH48-1
DoCM (Curated mutations)ERVH48-1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERVH48-1 (select a term)
intoGenERVH48-1
Cancer3DERVH48-1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETERVH48-1
MedgenERVH48-1
Genetic Testing Registry ERVH48-1
NextProtM5A8F1 [Medical]
TSGene90625
GENETestsERVH48-1
Target ValidationERVH48-1
Huge Navigator ERVH48-1 [HugePedia]
snp3D : Map Gene to Disease90625
BioCentury BCIQERVH48-1
ClinGenERVH48-1
Clinical trials, drugs, therapy
Protein Interactions : CTD90625
Pharm GKB GenePA142672213
Clinical trialERVH48-1
Miscellaneous
canSAR (ICR)ERVH48-1 (select the gene name)
HarmonizomeERVH48-1
DataMed IndexERVH48-1
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERVH48-1
EVEXERVH48-1
GoPubMedERVH48-1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:54:36 CEST 2020
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