Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

RBM15 (RNA binding motif protein 15)

Written2001-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)OTT (one twenty-two)
HGNC (Hugo) RBM15
HGNC Alias symbOTT
OTT1
HGNC Alias nameone twenty-two
LocusID (NCBI) 64783
Atlas_Id 175
Location 1p13.3  [Link to chromosome band 1p13]
Location_base_pair Starts at 110339323 and ends at 110346681 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping RBM15.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CD8A (2p11.2)::RBM15 (1p13.3)GNB5 (15q21.2)::RBM15 (1p13.3)MKL1 (22q13.1)::RBM15 (1p13.3)
RBM15 (1p13.3)::CD8A (2p11.2)RBM15 (1p13.3)::MAL (2q11.1)RBM15 (1p13.3)::MKL1 (22q13.1)
RBM15 (1p13.3)::TIRAP (11q24.2)

DNA/RNA

Description one exon
Transcription alternate splicing; a 8.2 kb single exon transcript and a 3.9 kb transcript

Protein

Description 957 amino acids; contains 3 RNA recognition motif (RMM) consensus in NH2 term and up to amino acid 528, and a SPOC (Spen Paralog and Ortholog) domain in COOH-term
Expression wide
Homology with the Drosophila split-end (spen)

Implicated in

Note
  
Entity / acute megakaryocytic leukaemia (M7 AML) --> RBM15 - MAL
Disease acute megakaryocytic leukaemia found in infants
Prognosis complete remission in only 50% of cases; median survival: 8 months
Cytogenetics 60% of cases have the t(1;22) as a single anomaly; the remaining cases exhibit complex and hyperploid clones
Hybrid/Mutated Gene 5' OTT - 3' MAL, comprisng most of OTT fused to most of MAL; the reciprocal 5' MAL - 3' OTT may or may not be present
Abnormal Protein includes most of OTT with the RNA recognition motifs and the SPOC domain in N-term, and most of MAL, with the scaffold attachment factor box in C-term
Oncogenesis may play a role in chromatin organization, HOX differentiation pathways, or extracellular signaling
  

Bibliography

Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia.
Mercher T, Coniat MB, Monni R, Mauchauffe M, Nguyen Khac F, Gressin L, Mugneret F, Leblanc T, Dastugue N, Berger R, Bernard OA
Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (10) : 5776-5779.
PMID 11344311
 

Citation

This paper should be referenced as such :
Huret, JL
OTT (one twenty-two) - RBM15 (RNA binding motif protein 15)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):189-189.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  del(12)(q24q24) SETD1B::GTF2H3
inv(16)(p13q24) CBFA2T3::GLIS2
Acute megakaryoblastic leukemia (AMegL)::M7 acute myeloid leukemia (M7-AML)
t(1;22)(p13;q13) RBM15::MKL1
t(11;12)(p15;p13) NUP98::KDM5A


External links

Nomenclature
HGNC (Hugo)RBM15   14959
Cards
AtlasOTTID175
Entrez_Gene (NCBI)RBM15    RNA binding motif protein 15
AliasesOTT; OTT1; SPEN
GeneCards (Weizmann)RBM15
Ensembl hg19 (Hinxton)ENSG00000162775 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162775 [Gene_View]  ENSG00000162775 [Sequence]  chr1:110339323-110346681 [Contig_View]  RBM15 [Vega]
ICGC DataPortalENSG00000162775
TCGA cBioPortalRBM15
AceView (NCBI)RBM15
Genatlas (Paris)RBM15
SOURCE (Princeton)RBM15
Genetics Home Reference (NIH)RBM15
Genomic and cartography
GoldenPath hg38 (UCSC)RBM15  -     chr1:110339323-110346681 +  1p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RBM15  -     1p13.3   [Description]    (hg19-Feb_2009)
GoldenPathRBM15 - 1p13.3 [CytoView hg19]  RBM15 - 1p13.3 [CytoView hg38]
ImmunoBaseENSG00000162775
Genome Data Viewer NCBIRBM15 [Mapview hg19]  
OMIM606077   
Gene and transcription
Genbank (Entrez)AB209680 AF086464 AF368062 AF368063 AF368064
RefSeq transcript (Entrez)NM_001201545 NM_022768
Consensus coding sequences : CCDS (NCBI)RBM15
Gene ExpressionRBM15 [ NCBI-GEO ]   RBM15 [ EBI - ARRAY_EXPRESS ]   RBM15 [ SEEK ]   RBM15 [ MEM ]
Gene Expression Viewer (FireBrowse)RBM15 [ Firebrowse - Broad ]
GenevisibleExpression of RBM15 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64783
GTEX Portal (Tissue expression)RBM15
Human Protein AtlasENSG00000162775-RBM15 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)RBM15
Human Protein Atlas [tissue]ENSG00000162775-RBM15 [tissue]
HPRD05832
Protein Interaction databases
BioGRIDRBM15
STRING (EMBL)RBM15
ZODIACRBM15
Ontologies - Pathways
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRBM15
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 21:24:20 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.