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FAM53B (family with sequence similarity 53 member B)

Identity

Alias_namesKIAA0140
KIAA0140
family with sequence similarity 53, member B
Alias_symbol (synonym)bA12J10.2
smp
Other alias
HGNC (Hugo) FAM53B
LocusID (NCBI) 9679
Atlas_Id 63209
Location 10q26.13  [Link to chromosome band 10q26]
Location_base_pair Starts at 124619294 and ends at 124744361 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		FAM53B (10q26.13) / FAM53B (10q26.13)FAM53B (10q26.13) / KCNN1 (19p13.11)FAM53B (10q26.13) / SFTPB (2p11.2)
FAM53B (10q26.13) / SGK2 (20q13.12)GSTP1 (11q13.2) / FAM53B (10q26.13)METTL10 (10q26.13) / FAM53B (10q26.13)
FAM53B SGK2FAM53B KCNN1

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)FAM53B   28968
Cards
Entrez_Gene (NCBI)FAM53B  9679  family with sequence similarity 53 member B
AliasesKIAA0140; bA12J10.2; smp
GeneCards (Weizmann)FAM53B
Ensembl hg19 (Hinxton)ENSG00000189319 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000189319 [Gene_View]  chr10:124619294-124744361 [Contig_View]  FAM53B [Vega]
ICGC DataPortalENSG00000189319
TCGA cBioPortalFAM53B
AceView (NCBI)FAM53B
Genatlas (Paris)FAM53B
WikiGenes9679
SOURCE (Princeton)FAM53B
Genetics Home Reference (NIH)FAM53B
Genomic and cartography
GoldenPath hg38 (UCSC)FAM53B  -     chr10:124619294-124744361 -  10q26.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAM53B  -     10q26.13   [Description]    (hg19-Feb_2009)
EnsemblFAM53B - 10q26.13 [CytoView hg19]  FAM53B - 10q26.13 [CytoView hg38]
Mapping of homologs : NCBIFAM53B [Mapview hg19]  FAM53B [Mapview hg38]
OMIM617289   
Gene and transcription
Genbank (Entrez)AK127323 AK127343 AW504054 BC031654 BX344666
RefSeq transcript (Entrez)NM_014661
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FAM53B
Cluster EST : UnigeneHs.129195 [ NCBI ]
CGAP (NCI)Hs.129195
Alternative Splicing GalleryENSG00000189319
Gene ExpressionFAM53B [ NCBI-GEO ]   FAM53B [ EBI - ARRAY_EXPRESS ]   FAM53B [ SEEK ]   FAM53B [ MEM ]
Gene Expression Viewer (FireBrowse)FAM53B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9679
GTEX Portal (Tissue expression)FAM53B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14153   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14153  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14153
Splice isoforms : SwissVarQ14153
PhosPhoSitePlusQ14153
Domains : Interpro (EBI)FAM53   
Domain families : Pfam (Sanger)FAM53 (PF15242)   
Domain families : Pfam (NCBI)pfam15242   
Conserved Domain (NCBI)FAM53B
DMDM Disease mutations9679
Blocks (Seattle)FAM53B
SuperfamilyQ14153
Human Protein AtlasENSG00000189319
Peptide AtlasQ14153
HPRD13314
IPIIPI00029013   IPI00410408   
Protein Interaction databases
DIP (DOE-UCLA)Q14153
IntAct (EBI)Q14153
FunCoupENSG00000189319
BioGRIDFAM53B
STRING (EMBL)FAM53B
ZODIACFAM53B
Ontologies - Pathways
QuickGOQ14153
Ontology : AmiGOmolecular_function  cellular_component  biological_process  
Ontology : EGO-EBImolecular_function  cellular_component  biological_process  
NDEx NetworkFAM53B
Atlas of Cancer Signalling NetworkFAM53B
Wikipedia pathwaysFAM53B
Orthology - Evolution
OrthoDB9679
GeneTree (enSembl)ENSG00000189319
Phylogenetic Trees/Animal Genes : TreeFamFAM53B
HOVERGENQ14153
HOGENOMQ14153
Homologs : HomoloGeneFAM53B
Homology/Alignments : Family Browser (UCSC)FAM53B
Gene fusions - Rearrangements
Fusion: TCGAFAM53B SGK2
Fusion: TCGAFAM53B KCNN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM53B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM53B
dbVarFAM53B
ClinVarFAM53B
1000_GenomesFAM53B 
Exome Variant ServerFAM53B
ExAC (Exome Aggregation Consortium)FAM53B (select the gene name)
Genetic variants : HAPMAP9679
Genomic Variants (DGV)FAM53B [DGVbeta]
DECIPHERFAM53B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFAM53B 
Mutations
ICGC Data PortalFAM53B 
TCGA Data PortalFAM53B 
Broad Tumor PortalFAM53B
OASIS PortalFAM53B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAM53B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFAM53B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FAM53B
DgiDB (Drug Gene Interaction Database)FAM53B
DoCM (Curated mutations)FAM53B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAM53B (select a term)
intoGenFAM53B
Cancer3DFAM53B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617289   
Orphanet
MedgenFAM53B
Genetic Testing Registry FAM53B
NextProtQ14153 [Medical]
TSGene9679
GENETestsFAM53B
Target ValidationFAM53B
Huge Navigator FAM53B [HugePedia]
snp3D : Map Gene to Disease9679
BioCentury BCIQFAM53B
ClinGenFAM53B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9679
Chemical/Pharm GKB GenePA134957918
Clinical trialFAM53B
Miscellaneous
canSAR (ICR)FAM53B (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFAM53B
EVEXFAM53B
GoPubMedFAM53B
iHOPFAM53B
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 13:08:07 CEST 2017
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