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FAM53B (family with sequence similarity 53 member B)

Identity

Alias (NCBI)KIAA0140
bA12J10.2
smp
HGNC (Hugo) FAM53B
HGNC Alias symbbA12J10.2
smp
HGNC Alias namesimplet homolog (zebrafish)
HGNC Previous nameKIAA0140
HGNC Previous nameKIAA0140
 family with sequence similarity 53, member B
LocusID (NCBI) 9679
Atlas_Id 63209
Location 10q26.13  [Link to chromosome band 10q26]
Location_base_pair Starts at 124619292 and ends at 124744378 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)
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    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]  ENSG00000189319 [Sequence]  chr10:124619292-124744378 [Contig_View]  FAM53B [Vega]
ICGC DataPortalENSG00000189319
TCGA cBioPortalFAM53B
AceView (NCBI)FAM53B
Genatlas (Paris)FAM53B
SOURCE (Princeton)FAM53B
Genetics Home Reference (NIH)FAM53B
Genomic and cartography
GoldenPath hg38 (UCSC)FAM53B  -     chr10:124619292-124744378 -  10q26.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAM53B  -     10q26.13   [Description]    (hg19-Feb_2009)
GoldenPathFAM53B - 10q26.13 [CytoView hg19]  FAM53B - 10q26.13 [CytoView hg38]
ImmunoBaseENSG00000189319
Genome Data Viewer NCBIFAM53B [Mapview hg19]  
OMIM617289   
Gene and transcription
Genbank (Entrez)AK127323 AK127343 AW504054 BC031654 BX344666
RefSeq transcript (Entrez)NM_014661
Consensus coding sequences : CCDS (NCBI)FAM53B
Gene ExpressionFAM53B [ NCBI-GEO ]   FAM53B [ EBI - ARRAY_EXPRESS ]   FAM53B [ SEEK ]   FAM53B [ MEM ]
Gene Expression Viewer (FireBrowse)FAM53B [ Firebrowse - Broad ]
GenevisibleExpression of FAM53B in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9679
GTEX Portal (Tissue expression)FAM53B
Human Protein AtlasENSG00000189319-FAM53B [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ14153
Domains : Interpro (EBI)FAM53   
Domain families : Pfam (Sanger)FAM53 (PF15242)   
Domain families : Pfam (NCBI)pfam15242   
Conserved Domain (NCBI)FAM53B
SuperfamilyQ14153
AlphaFold pdb e-kbQ14153   
Human Protein Atlas [tissue]ENSG00000189319-FAM53B [tissue]
HPRD13314
Protein Interaction databases
DIP (DOE-UCLA)Q14153
IntAct (EBI)Q14153
BioGRIDFAM53B
STRING (EMBL)FAM53B
ZODIACFAM53B
Ontologies - Pathways
QuickGOQ14153
Ontology : AmiGOnucleus  nucleus  protein import into nucleus  Wnt signaling pathway  regulation of canonical Wnt signaling pathway  positive regulation of canonical Wnt signaling pathway  positive regulation of canonical Wnt signaling pathway  
Ontology : EGO-EBInucleus  nucleus  protein import into nucleus  Wnt signaling pathway  regulation of canonical Wnt signaling pathway  positive regulation of canonical Wnt signaling pathway  positive regulation of canonical Wnt signaling pathway  
NDEx NetworkFAM53B
Atlas of Cancer Signalling NetworkFAM53B
Wikipedia pathwaysFAM53B
Orthology - Evolution
OrthoDB9679
GeneTree (enSembl)ENSG00000189319
Phylogenetic Trees/Animal Genes : TreeFamFAM53B
Homologs : HomoloGeneFAM53B
Homology/Alignments : Family Browser (UCSC)FAM53B
Gene fusions - Rearrangements
Fusion : QuiverFAM53B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM53B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM53B
dbVarFAM53B
ClinVarFAM53B
MonarchFAM53B
1000_GenomesFAM53B 
Exome Variant ServerFAM53B
GNOMAD BrowserENSG00000189319
Varsome BrowserFAM53B
ACMGFAM53B variants
VarityQ14153
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]  
Somatic Mutations in Cancer : COSMIC3DFAM53B
Mutations and Diseases : HGMDFAM53B
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaFAM53B
DgiDB (Drug Gene Interaction Database)FAM53B
DoCM (Curated mutations)FAM53B
CIViC (Clinical Interpretations of Variants in Cancer)FAM53B
Cancer3DFAM53B
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617289   
Orphanet
DisGeNETFAM53B
MedgenFAM53B
Genetic Testing Registry FAM53B
NextProtQ14153 [Medical]
GENETestsFAM53B
Target ValidationFAM53B
Huge Navigator FAM53B [HugePedia]
ClinGenFAM53B
Clinical trials, drugs, therapy
MyCancerGenomeFAM53B
Protein Interactions : CTDFAM53B
Pharm GKB GenePA134957918
PharosQ14153
Clinical trialFAM53B
Miscellaneous
canSAR (ICR)FAM53B
HarmonizomeFAM53B
DataMed IndexFAM53B
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFAM53B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:50:06 CEST 2021
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