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SPEN (spen family transcriptional repressor)

Identity

Alias_namesSPEN homolog, transcriptional regulator (Drosophila)
spen homolog, transcriptional regulator (Drosophila)
Alias_symbol (synonym)KIAA0929
MINT
SHARP
RBM15C
Other aliasHIAA0929
HGNC (Hugo) SPEN
LocusID (NCBI) 23013
Atlas_Id 42285
Location 1p36.21  [Link to chromosome band 1p36]
Location_base_pair Starts at 15847864 and ends at 15940455 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)
SPEN (1p36.21) / CERS4 (19p13.2)SPEN (1p36.21) / EFHD2 (1p36.21)SPEN (1p36.21) / FBLIM1 (1p36.21)
SPEN (1p36.21) / IRF3 (19q13.33)SPEN (1p36.21) / SPEN (1p36.21)SPEN (1p36.21) / TMEM51 (1p36.21)
SPEN (1p36.21) / TNFRSF1B (1p36.22)SPTBN1 (2p16.2) / SPEN (1p36.21)YARS (1p35.1) / SPEN (1p36.21)
SPEN 1p36.21 / CERS4 19p13.2SPEN 1p36.21 / EFHD2 1p36.21SPEN 1p36.21 / FBLIM1 1p36.21
SPEN 1p36.21 / TMEM51 1p36.21SPEN 1p36.21 / TNFRSF1B 1p36.22

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(9;17)(p13;p12) PAX5/NCOR1


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Thyroid: Anaplastic (undifferentiated) carcinoma
Gastric Tumors: an overview


External links

Nomenclature
HGNC (Hugo)SPEN   17575
Cards
Entrez_Gene (NCBI)SPEN  23013  spen family transcriptional repressor
AliasesHIAA0929; MINT; RBM15C; SHARP
GeneCards (Weizmann)SPEN
Ensembl hg19 (Hinxton)ENSG00000065526 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000065526 [Gene_View]  chr1:15847864-15940455 [Contig_View]  SPEN [Vega]
ICGC DataPortalENSG00000065526
TCGA cBioPortalSPEN
AceView (NCBI)SPEN
Genatlas (Paris)SPEN
WikiGenes23013
SOURCE (Princeton)SPEN
Genetics Home Reference (NIH)SPEN
Genomic and cartography
GoldenPath hg38 (UCSC)SPEN  -     chr1:15847864-15940455 +  1p36.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPEN  -     1p36.21   [Description]    (hg19-Feb_2009)
EnsemblSPEN - 1p36.21 [CytoView hg19]  SPEN - 1p36.21 [CytoView hg38]
Mapping of homologs : NCBISPEN [Mapview hg19]  SPEN [Mapview hg38]
OMIM613484   
Gene and transcription
Genbank (Entrez)AB023146 AF085964 AF356524 AK000882 AK022949
RefSeq transcript (Entrez)NM_015001
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPEN
Cluster EST : UnigeneHs.744843 [ NCBI ]
CGAP (NCI)Hs.744843
Alternative Splicing GalleryENSG00000065526
Gene ExpressionSPEN [ NCBI-GEO ]   SPEN [ EBI - ARRAY_EXPRESS ]   SPEN [ SEEK ]   SPEN [ MEM ]
Gene Expression Viewer (FireBrowse)SPEN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23013
GTEX Portal (Tissue expression)SPEN
Human Protein AtlasENSG00000065526-SPEN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96T58   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96T58  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96T58
Splice isoforms : SwissVarQ96T58
PhosPhoSitePlusQ96T58
Domaine pattern : Prosite (Expaxy)RRM (PS50102)    SPOC (PS50917)   
Domains : Interpro (EBI)Nucleotide-bd_a/b_plait    RRM_dom    SHARP_RRM1    SHARP_RRM2    SHARP_RRM3    SHARP_RRM4    SPOC-like_C_dom    SPOC_C    SPOC_met   
Domain families : Pfam (Sanger)RRM_1 (PF00076)    SPOC (PF07744)   
Domain families : Pfam (NCBI)pfam00076    pfam07744   
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)SPEN
DMDM Disease mutations23013
Blocks (Seattle)SPEN
PDB (SRS)1OW1    2RT5    4P6Q   
PDB (PDBSum)1OW1    2RT5    4P6Q   
PDB (IMB)1OW1    2RT5    4P6Q   
PDB (RSDB)1OW1    2RT5    4P6Q   
Structural Biology KnowledgeBase1OW1    2RT5    4P6Q   
SCOP (Structural Classification of Proteins)1OW1    2RT5    4P6Q   
CATH (Classification of proteins structures)1OW1    2RT5    4P6Q   
SuperfamilyQ96T58
Human Protein Atlas [tissue]ENSG00000065526-SPEN [tissue]
Peptide AtlasQ96T58
HPRD10230
IPIIPI00045914   IPI00982714   IPI00477898   IPI00640931   
Protein Interaction databases
DIP (DOE-UCLA)Q96T58
IntAct (EBI)Q96T58
FunCoupENSG00000065526
BioGRIDSPEN
STRING (EMBL)SPEN
ZODIACSPEN
Ontologies - Pathways
QuickGOQ96T58
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  mRNA splicing, via spliceosome  RNA polymerase II transcription factor binding  transcriptional repressor activity, RNA polymerase II transcription factor binding  nucleic acid binding  DNA binding  RNA binding  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  Notch signaling pathway  viral process  transcriptional repressor complex  negative regulation of transcription, DNA-templated  positive regulation of neurogenesis  extracellular exosome  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  mRNA splicing, via spliceosome  RNA polymerase II transcription factor binding  transcriptional repressor activity, RNA polymerase II transcription factor binding  nucleic acid binding  DNA binding  RNA binding  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  Notch signaling pathway  viral process  transcriptional repressor complex  negative regulation of transcription, DNA-templated  positive regulation of neurogenesis  extracellular exosome  
Pathways : BIOCARTACARM1 and Regulation of the Estrogen Receptor [Genes]   
NDEx NetworkSPEN
Atlas of Cancer Signalling NetworkSPEN
Wikipedia pathwaysSPEN
Orthology - Evolution
OrthoDB23013
GeneTree (enSembl)ENSG00000065526
Phylogenetic Trees/Animal Genes : TreeFamSPEN
HOVERGENQ96T58
HOGENOMQ96T58
Homologs : HomoloGeneSPEN
Homology/Alignments : Family Browser (UCSC)SPEN
Gene fusions - Rearrangements
Fusion : MitelmanSPEN/CERS4 [1p36.21/19p13.2]  
Fusion : MitelmanSPEN/EFHD2 [1p36.21/1p36.21]  [t(1;1)(p36;p36)]  
Fusion : MitelmanSPEN/FBLIM1 [1p36.21/1p36.21]  [t(1;1)(p36;p36)]  
Fusion : MitelmanSPEN/TMEM51 [1p36.21/1p36.21]  [t(1;1)(p36;p36)]  
Fusion : MitelmanSPEN/TNFRSF1B [1p36.21/1p36.22]  [t(1;1)(p36;p36)]  
Fusion: TCGASPEN 1p36.21 CERS4 19p13.2 LUAD
Fusion: TCGASPEN 1p36.21 EFHD2 1p36.21 BLCA
Fusion: TCGASPEN 1p36.21 FBLIM1 1p36.21 BLCA
Fusion: TCGASPEN 1p36.21 TMEM51 1p36.21 OV
Fusion: TCGASPEN 1p36.21 TNFRSF1B 1p36.22 PRAD
Fusion: Tumor Portal SPEN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPEN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPEN
dbVarSPEN
ClinVarSPEN
1000_GenomesSPEN 
Exome Variant ServerSPEN
ExAC (Exome Aggregation Consortium)ENSG00000065526
GNOMAD BrowserENSG00000065526
Genetic variants : HAPMAP23013
Genomic Variants (DGV)SPEN [DGVbeta]
DECIPHERSPEN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPEN 
Mutations
ICGC Data PortalSPEN 
TCGA Data PortalSPEN 
Broad Tumor PortalSPEN
OASIS PortalSPEN [ Somatic mutations - Copy number]
Cancer Gene: CensusSPEN 
Somatic Mutations in Cancer : COSMICSPEN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPEN
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 SPEN
DgiDB (Drug Gene Interaction Database)SPEN
DoCM (Curated mutations)SPEN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPEN (select a term)
intoGenSPEN
Cancer3DSPEN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613484   
Orphanet
MedgenSPEN
Genetic Testing Registry SPEN
NextProtQ96T58 [Medical]
TSGene23013
GENETestsSPEN
Target ValidationSPEN
Huge Navigator SPEN [HugePedia]
snp3D : Map Gene to Disease23013
BioCentury BCIQSPEN
ClinGenSPEN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23013
Chemical/Pharm GKB GenePA134895302
Clinical trialSPEN
Miscellaneous
canSAR (ICR)SPEN (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPEN
EVEXSPEN
GoPubMedSPEN
iHOPSPEN
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 : Thu Nov 9 13:12:23 CET 2017

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