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CHRFAM7A (CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion)

Identity

Alias_namesCHRNA7 (cholinergic receptor
Alias_symbol (synonym)D-10
CHRNA7-DR1
Other aliasCHRNA7
HGNC (Hugo) CHRFAM7A
LocusID (NCBI) 89832
Atlas_Id 51508
Location 15q13.2  [Link to chromosome band 15q13]
Location_base_pair Starts at 30361240 and ends at 30393661 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)
CHRFAM7A (15q13.2) / CRLF2 (Xp22.33)

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)CHRFAM7A   15781
Cards
Entrez_Gene (NCBI)CHRFAM7A  89832  CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion
AliasesCHRNA7; CHRNA7-DR1; D-10
GeneCards (Weizmann)CHRFAM7A
Ensembl hg19 (Hinxton)ENSG00000166664 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166664 [Gene_View]ENSG00000166664 [Sequence]  chr15:30361240-30393661 [Contig_View]  CHRFAM7A [Vega]
ICGC DataPortalENSG00000166664
TCGA cBioPortalCHRFAM7A
AceView (NCBI)CHRFAM7A
Genatlas (Paris)CHRFAM7A
WikiGenes89832
SOURCE (Princeton)CHRFAM7A
Genetics Home Reference (NIH)CHRFAM7A
Genomic and cartography
GoldenPath hg38 (UCSC)CHRFAM7A  -     chr15:30361240-30393661 -  15q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHRFAM7A  -     15q13.2   [Description]    (hg19-Feb_2009)
EnsemblCHRFAM7A - 15q13.2 [CytoView hg19]  CHRFAM7A - 15q13.2 [CytoView hg38]
Mapping of homologs : NCBICHRFAM7A [Mapview hg19]  CHRFAM7A [Mapview hg38]
OMIM609756   
Gene and transcription
Genbank (Entrez)AF029838 AF029839 AF036903 AF037646 AK292984
RefSeq transcript (Entrez)NM_139320 NM_148911
RefSeq genomic (Entrez)NC_000015 NC_018926 NT_187660 NW_011332701
Consensus coding sequences : CCDS (NCBI)CHRFAM7A
Cluster EST : UnigeneHs.510853 [ NCBI ]
CGAP (NCI)Hs.510853
Alternative Splicing GalleryENSG00000166664
Gene ExpressionCHRFAM7A [ NCBI-GEO ]   CHRFAM7A [ EBI - ARRAY_EXPRESS ]   CHRFAM7A [ SEEK ]   CHRFAM7A [ MEM ]
Gene Expression Viewer (FireBrowse)CHRFAM7A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)89832
GTEX Portal (Tissue expression)CHRFAM7A
Human Protein AtlasENSG00000166664-CHRFAM7A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ494W8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ494W8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ494W8
Splice isoforms : SwissVarQ494W8
PhosPhoSitePlusQ494W8
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)Acetylcholine_rcpt_TM    Neur_chan_lig-bd    Neur_channel    Neurotrans-gated_channel_TM    Neurotransmitter_ion_chnl_CS   
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
Conserved Domain (NCBI)CHRFAM7A
DMDM Disease mutations89832
Blocks (Seattle)CHRFAM7A
SuperfamilyQ494W8
Human Protein Atlas [tissue]ENSG00000166664-CHRFAM7A [tissue]
Peptide AtlasQ494W8
HPRD18704
IPIIPI00784684   IPI00171948   
Protein Interaction databases
DIP (DOE-UCLA)Q494W8
IntAct (EBI)Q494W8
FunCoupENSG00000166664
BioGRIDCHRFAM7A
STRING (EMBL)CHRFAM7A
ZODIACCHRFAM7A
Ontologies - Pathways
QuickGOQ494W8
Ontology : AmiGOtransmembrane signaling receptor activity  extracellular ligand-gated ion channel activity  signal transduction  integral component of membrane  ion transmembrane transport  
Ontology : EGO-EBItransmembrane signaling receptor activity  extracellular ligand-gated ion channel activity  signal transduction  integral component of membrane  ion transmembrane transport  
NDEx NetworkCHRFAM7A
Atlas of Cancer Signalling NetworkCHRFAM7A
Wikipedia pathwaysCHRFAM7A
Orthology - Evolution
OrthoDB89832
GeneTree (enSembl)ENSG00000166664
Phylogenetic Trees/Animal Genes : TreeFamCHRFAM7A
HOVERGENQ494W8
HOGENOMQ494W8
Homologs : HomoloGeneCHRFAM7A
Homology/Alignments : Family Browser (UCSC)CHRFAM7A
Gene fusions - Rearrangements
Fusion : QuiverCHRFAM7A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHRFAM7A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHRFAM7A
dbVarCHRFAM7A
ClinVarCHRFAM7A
1000_GenomesCHRFAM7A 
Exome Variant ServerCHRFAM7A
ExAC (Exome Aggregation Consortium)ENSG00000166664
GNOMAD BrowserENSG00000166664
Genetic variants : HAPMAP89832
Genomic Variants (DGV)CHRFAM7A [DGVbeta]
DECIPHERCHRFAM7A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHRFAM7A 
Mutations
ICGC Data PortalCHRFAM7A 
TCGA Data PortalCHRFAM7A 
Broad Tumor PortalCHRFAM7A
OASIS PortalCHRFAM7A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHRFAM7A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHRFAM7A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHRFAM7A
DgiDB (Drug Gene Interaction Database)CHRFAM7A
DoCM (Curated mutations)CHRFAM7A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHRFAM7A (select a term)
intoGenCHRFAM7A
Cancer3DCHRFAM7A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609756   
Orphanet
DisGeNETCHRFAM7A
MedgenCHRFAM7A
Genetic Testing Registry CHRFAM7A
NextProtQ494W8 [Medical]
TSGene89832
GENETestsCHRFAM7A
Target ValidationCHRFAM7A
Huge Navigator CHRFAM7A [HugePedia]
snp3D : Map Gene to Disease89832
BioCentury BCIQCHRFAM7A
ClinGenCHRFAM7A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD89832
Chemical/Pharm GKB GenePA26483
Clinical trialCHRFAM7A
Miscellaneous
canSAR (ICR)CHRFAM7A (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHRFAM7A
EVEXCHRFAM7A
GoPubMedCHRFAM7A
iHOPCHRFAM7A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jun 21 16:44:23 CEST 2018
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