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FAM49B (family with sequence similarity 49 member B)

Identity

Alias_namesfamily with sequence similarity 49, member B
Alias_symbol (synonym)BM-009
Other aliasL1
HGNC (Hugo) FAM49B
LocusID (NCBI) 51571
Atlas_Id 63206
Location 8q24.21  [Link to chromosome band 8q24]
Location_base_pair Starts at 129839593 and ends at 129939872 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CYLD (16q12.1) / FAM49B (8q24.21)FAM49B (8q24.21) / AK5 (1p31.1)FAM49B (8q24.21) / ASAP1 (8q24.21)
FAM49B (8q24.21) / FAM49B (8q24.21)FAM49B (8q24.21) / KAT6A (8p11.21)FAM49B (8q24.21) / PREX2 (8q13.2)
SPIDR (8q11.21) / FAM49B (8q24.21)FAM49B AK5FAM49B ASAP1
FAM49B KAT6AFAM49B PREX2

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)FAM49B   25216
Cards
Entrez_Gene (NCBI)FAM49B  51571  family with sequence similarity 49 member B
AliasesBM-009; L1
GeneCards (Weizmann)FAM49B
Ensembl hg19 (Hinxton)ENSG00000153310 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000153310 [Gene_View]  chr8:129839593-129939872 [Contig_View]  FAM49B [Vega]
ICGC DataPortalENSG00000153310
TCGA cBioPortalFAM49B
AceView (NCBI)FAM49B
Genatlas (Paris)FAM49B
WikiGenes51571
SOURCE (Princeton)FAM49B
Genetics Home Reference (NIH)FAM49B
Genomic and cartography
GoldenPath hg38 (UCSC)FAM49B  -     chr8:129839593-129939872 -  8q24.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAM49B  -     8q24.21   [Description]    (hg19-Feb_2009)
EnsemblFAM49B - 8q24.21 [CytoView hg19]  FAM49B - 8q24.21 [CytoView hg38]
Mapping of homologs : NCBIFAM49B [Mapview hg19]  FAM49B [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA975908 AF208851 AK001226 AK002059 AK130372
RefSeq transcript (Entrez)NM_001256763 NM_001330612 NM_016623
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FAM49B
Cluster EST : UnigeneHs.126941 [ NCBI ]
CGAP (NCI)Hs.126941
Alternative Splicing GalleryENSG00000153310
Gene ExpressionFAM49B [ NCBI-GEO ]   FAM49B [ EBI - ARRAY_EXPRESS ]   FAM49B [ SEEK ]   FAM49B [ MEM ]
Gene Expression Viewer (FireBrowse)FAM49B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51571
GTEX Portal (Tissue expression)FAM49B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NUQ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NUQ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NUQ9
Splice isoforms : SwissVarQ9NUQ9
PhosPhoSitePlusQ9NUQ9
Domains : Interpro (EBI)DUF1394   
Domain families : Pfam (Sanger)DUF1394 (PF07159)   
Domain families : Pfam (NCBI)pfam07159   
Conserved Domain (NCBI)FAM49B
DMDM Disease mutations51571
Blocks (Seattle)FAM49B
SuperfamilyQ9NUQ9
Human Protein AtlasENSG00000153310
Peptide AtlasQ9NUQ9
HPRD13313
IPIIPI00303318   IPI00651701   IPI00984351   IPI00979619   IPI00979101   IPI00980306   IPI00976007   IPI00979649   IPI00983688   IPI00976653   IPI01011690   IPI00982499   IPI00977851   
Protein Interaction databases
DIP (DOE-UCLA)Q9NUQ9
IntAct (EBI)Q9NUQ9
FunCoupENSG00000153310
BioGRIDFAM49B
STRING (EMBL)FAM49B
ZODIACFAM49B
Ontologies - Pathways
QuickGOQ9NUQ9
Ontology : AmiGOpositive regulation of T cell mediated cytotoxicity  platelet degranulation  protein binding  extracellular region  cilium  membrane  MHC class Ib protein binding, via antigen binding groove  platelet alpha granule lumen  positive regulation of interferon-gamma production  positive regulation of T cell activation  extracellular exosome  positive regulation of memory T cell activation  
Ontology : EGO-EBIpositive regulation of T cell mediated cytotoxicity  platelet degranulation  protein binding  extracellular region  cilium  membrane  MHC class Ib protein binding, via antigen binding groove  platelet alpha granule lumen  positive regulation of interferon-gamma production  positive regulation of T cell activation  extracellular exosome  positive regulation of memory T cell activation  
NDEx NetworkFAM49B
Atlas of Cancer Signalling NetworkFAM49B
Wikipedia pathwaysFAM49B
Orthology - Evolution
OrthoDB51571
GeneTree (enSembl)ENSG00000153310
Phylogenetic Trees/Animal Genes : TreeFamFAM49B
HOVERGENQ9NUQ9
HOGENOMQ9NUQ9
Homologs : HomoloGeneFAM49B
Homology/Alignments : Family Browser (UCSC)FAM49B
Gene fusions - Rearrangements
Fusion: TCGAFAM49B AK5
Fusion: TCGAFAM49B ASAP1
Fusion: TCGAFAM49B KAT6A
Fusion: TCGAFAM49B PREX2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM49B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM49B
dbVarFAM49B
ClinVarFAM49B
1000_GenomesFAM49B 
Exome Variant ServerFAM49B
ExAC (Exome Aggregation Consortium)FAM49B (select the gene name)
Genetic variants : HAPMAP51571
Genomic Variants (DGV)FAM49B [DGVbeta]
DECIPHERFAM49B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFAM49B 
Mutations
ICGC Data PortalFAM49B 
TCGA Data PortalFAM49B 
Broad Tumor PortalFAM49B
OASIS PortalFAM49B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAM49B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFAM49B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FAM49B
DgiDB (Drug Gene Interaction Database)FAM49B
DoCM (Curated mutations)FAM49B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAM49B (select a term)
intoGenFAM49B
Cancer3DFAM49B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenFAM49B
Genetic Testing Registry FAM49B
NextProtQ9NUQ9 [Medical]
TSGene51571
GENETestsFAM49B
Target ValidationFAM49B
Huge Navigator FAM49B [HugePedia]
snp3D : Map Gene to Disease51571
BioCentury BCIQFAM49B
ClinGenFAM49B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51571
Chemical/Pharm GKB GenePA134990565
Clinical trialFAM49B
Miscellaneous
canSAR (ICR)FAM49B (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFAM49B
EVEXFAM49B
GoPubMedFAM49B
iHOPFAM49B
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 13:08:06 CEST 2017

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