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SPIDR (scaffolding protein involved in DNA repair)

Identity

Alias_namesKIAA0146
KIAA0146
Other alias
HGNC (Hugo) SPIDR
LocusID (NCBI) 23514
Atlas_Id 53444
Location 8q11.21  [Link to chromosome band 8q11]
Location_base_pair Starts at 47260878 and ends at 47736001 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CAMK2B (7p13) / SPIDR (8q11.21)CDC42SE2 (5q23.3) / SPIDR (8q11.21)FNTA (8p11.21) / SPIDR (8q11.21)
MKL1 (22q13.1) / SPIDR (8q11.21)MTA2 (11q12.3) / SPIDR (8q11.21)MTDH (8q22.1) / SPIDR (8q11.21)
MYADM (19q13.42) / SPIDR (8q11.21)RHOC (1p13.2) / SPIDR (8q11.21)SLC24A2 (9p22.1) / SPIDR (8q11.21)
SPIDR (8q11.21) / DST (6p12.1)SPIDR (8q11.21) / FAM49B (8q24.21)SPIDR (8q11.21) / SNX7 (1p21.3)
SPIDR (8q11.21) / SPIDR (8q11.21)SPIDR (8q11.21) / ZFAT (8q24.22)STIM2 (4p15.2) / SPIDR (8q11.21)

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)SPIDR   28971
Cards
Entrez_Gene (NCBI)SPIDR  23514  scaffolding protein involved in DNA repair
AliasesKIAA0146
GeneCards (Weizmann)SPIDR
Ensembl hg19 (Hinxton)ENSG00000164808 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164808 [Gene_View]  chr8:47260878-47736001 [Contig_View]  SPIDR [Vega]
ICGC DataPortalENSG00000164808
TCGA cBioPortalSPIDR
AceView (NCBI)SPIDR
Genatlas (Paris)SPIDR
WikiGenes23514
SOURCE (Princeton)SPIDR
Genetics Home Reference (NIH)SPIDR
Genomic and cartography
GoldenPath hg38 (UCSC)SPIDR  -     chr8:47260878-47736001 +  8q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPIDR  -     8q11.21   [Description]    (hg19-Feb_2009)
EnsemblSPIDR - 8q11.21 [CytoView hg19]  SPIDR - 8q11.21 [CytoView hg38]
Mapping of homologs : NCBISPIDR [Mapview hg19]  SPIDR [Mapview hg38]
OMIM615384   
Gene and transcription
Genbank (Entrez)AK026929 AK055680 AK092336 AK095778 AK122820
RefSeq transcript (Entrez)NM_001080394 NM_001282916 NM_001282919
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPIDR
Cluster EST : UnigeneHs.381058 [ NCBI ]
CGAP (NCI)Hs.381058
Alternative Splicing GalleryENSG00000164808
Gene ExpressionSPIDR [ NCBI-GEO ]   SPIDR [ EBI - ARRAY_EXPRESS ]   SPIDR [ SEEK ]   SPIDR [ MEM ]
Gene Expression Viewer (FireBrowse)SPIDR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23514
GTEX Portal (Tissue expression)SPIDR
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14159   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14159  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14159
Splice isoforms : SwissVarQ14159
PhosPhoSitePlusQ14159
Domains : Interpro (EBI)DUF4502    DUF4503   
Domain families : Pfam (Sanger)DUF4502 (PF14950)    DUF4503 (PF14951)   
Domain families : Pfam (NCBI)pfam14950    pfam14951   
Conserved Domain (NCBI)SPIDR
DMDM Disease mutations23514
Blocks (Seattle)SPIDR
SuperfamilyQ14159
Human Protein AtlasENSG00000164808
Peptide AtlasQ14159
IPIIPI00029021   IPI00984237   IPI00973883   IPI00981069   IPI00793668   IPI00794270   IPI01011714   IPI00977600   IPI01015299   IPI01009623   IPI00978331   IPI00984950   IPI00979780   IPI00983637   IPI00976973   IPI00974529   IPI00981004   IPI00974010   
Protein Interaction databases
DIP (DOE-UCLA)Q14159
IntAct (EBI)Q14159
FunCoupENSG00000164808
BioGRIDSPIDR
STRING (EMBL)SPIDR
ZODIACSPIDR
Ontologies - Pathways
QuickGOQ14159
Ontology : AmiGOnuclear chromosome  double-strand break repair via homologous recombination  protein binding  nucleoplasm  nucleoplasm  cellular response to DNA damage stimulus  regulation of double-strand break repair via homologous recombination  positive regulation of protein complex assembly  regulation of establishment of protein localization to chromosome  cellular response to ionizing radiation  cellular response to hydroxyurea  cellular response to camptothecin  positive regulation of double-strand break repair  
Ontology : EGO-EBInuclear chromosome  double-strand break repair via homologous recombination  protein binding  nucleoplasm  nucleoplasm  cellular response to DNA damage stimulus  regulation of double-strand break repair via homologous recombination  positive regulation of protein complex assembly  regulation of establishment of protein localization to chromosome  cellular response to ionizing radiation  cellular response to hydroxyurea  cellular response to camptothecin  positive regulation of double-strand break repair  
NDEx NetworkSPIDR
Atlas of Cancer Signalling NetworkSPIDR
Wikipedia pathwaysSPIDR
Orthology - Evolution
OrthoDB23514
GeneTree (enSembl)ENSG00000164808
Phylogenetic Trees/Animal Genes : TreeFamSPIDR
HOVERGENQ14159
HOGENOMQ14159
Homologs : HomoloGeneSPIDR
Homology/Alignments : Family Browser (UCSC)SPIDR
Gene fusions - Rearrangements
Fusion : MitelmanCAMK2B/SPIDR [7p13/8q11.21]  [t(7;8)(p13;q11)]  
Fusion : MitelmanCDC42SE2/SPIDR [5q23.3/8q11.21]  [t(5;8)(q23;q11)]  
Fusion : MitelmanFNTA/SPIDR [8p11.21/8q11.21]  [t(8;8)(p11;q11)]  
Fusion : MitelmanMKL1/SPIDR [22q13.1/8q11.21]  [t(8;22)(q11;q13)]  
Fusion : MitelmanMTDH/SPIDR [8q22.1/8q11.21]  [t(8;8)(q11;q22)]  
Fusion : MitelmanSPIDR/SNX7 [8q11.21/1p21.3]  [t(1;8)(p21;q11)]  
Fusion : MitelmanSTIM2/SPIDR [4p15.2/8q11.21]  [t(4;8)(p15;q11)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPIDR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPIDR
dbVarSPIDR
ClinVarSPIDR
1000_GenomesSPIDR 
Exome Variant ServerSPIDR
ExAC (Exome Aggregation Consortium)SPIDR (select the gene name)
Genetic variants : HAPMAP23514
Genomic Variants (DGV)SPIDR [DGVbeta]
DECIPHERSPIDR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPIDR 
Mutations
ICGC Data PortalSPIDR 
TCGA Data PortalSPIDR 
Broad Tumor PortalSPIDR
OASIS PortalSPIDR [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSPIDR
BioMutasearch SPIDR
DgiDB (Drug Gene Interaction Database)SPIDR
DoCM (Curated mutations)SPIDR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPIDR (select a term)
intoGenSPIDR
Cancer3DSPIDR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615384   
Orphanet
MedgenSPIDR
Genetic Testing Registry SPIDR
NextProtQ14159 [Medical]
TSGene23514
GENETestsSPIDR
Huge Navigator SPIDR [HugePedia]
snp3D : Map Gene to Disease23514
BioCentury BCIQSPIDR
ClinGenSPIDR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23514
Chemical/Pharm GKB GenePA142671636
Clinical trialSPIDR
Miscellaneous
canSAR (ICR)SPIDR (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPIDR
EVEXSPIDR
GoPubMedSPIDR
iHOPSPIDR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:38:50 CEST 2017

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