Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MBTD1 (mbt domain containing 1)

Identity

Alias_symbol (synonym)SA49P01
FLJ20055
Other alias
HGNC (Hugo) MBTD1
LocusID (NCBI) 54799
Atlas_Id 53715
Location 17q21.33  [Link to chromosome band 17q21]
Location_base_pair Starts at 51177425 and ends at 51260066 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)
KANSL1 (17q21.31) / MBTD1 (17q21.33)MBTD1 (17q21.33) / CXorf67 (Xp11.22)MBTD1 (17q21.33) / EFCAB3 (17q23.2)
MBTD1 (17q21.33) / MYO7A (11q13.5)MBTD1 (17q21.33) / SYBU (8q23.2)PHLDA1 (12q21.2) / MBTD1 (17q21.33)
PITPNC1 (17q24.2) / MBTD1 (17q21.33)SPAG9 (17q21.33) / MBTD1 (17q21.33)MBTD1 CXorf67
MBTD1 17q21.33 / EFCAB3 17q23.2MBTD1 17q21.33 / MYO7A 11q13.5MBTD1 17q21.33 / SYBU 8q23.2
PITPNC1 17q24.2 / MBTD1 17q21.33SPAG9 17q21.33 / MBTD1 17q21.33

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) [ 2 ]
  t(10;17)(p15;q21) ZMYND11/MBTD1
t(10;17)(p15;q21) MBTD1/ZMYND11

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 8 ]
  Uterus: Low-grade endometrial stromal sarcoma with t(X;17)(p11.2;q21.33) MBTD1/CXorf6
t(8;17)(q23;q21) MBTD1/SYBU
t(11;17)(q13;q21) MBTD1/MYO7A
KANSL1/MBTD1 (17q21)
SPAG9/MBTD1 (17q21)
SPAG9/MBTD1 (17q21)
t(17;17)(q21;q23) MBTD1/EFCAB3
t(17;17)(q21;q24) PITPNC1/MBTD1

External links

Nomenclature
HGNC (Hugo)MBTD1   19866
Cards
Entrez_Gene (NCBI)MBTD1  54799  mbt domain containing 1
AliasesSA49P01
GeneCards (Weizmann)MBTD1
Ensembl hg19 (Hinxton)ENSG00000011258 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000011258 [Gene_View]  ENSG00000011258 [Sequence]  chr17:51177425-51260066 [Contig_View]  MBTD1 [Vega]
ICGC DataPortalENSG00000011258
TCGA cBioPortalMBTD1
AceView (NCBI)MBTD1
Genatlas (Paris)MBTD1
WikiGenes54799
SOURCE (Princeton)MBTD1
Genetics Home Reference (NIH)MBTD1
Genomic and cartography
GoldenPath hg38 (UCSC)MBTD1  -     chr17:51177425-51260066 -  17q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MBTD1  -     17q21.33   [Description]    (hg19-Feb_2009)
EnsemblMBTD1 - 17q21.33 [CytoView hg19]  MBTD1 - 17q21.33 [CytoView hg38]
Mapping of homologs : NCBIMBTD1 [Mapview hg19]  MBTD1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK000062 AK124061 AL133577 BC034364 BC101736
RefSeq transcript (Entrez)NM_017643
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MBTD1
Cluster EST : UnigeneHs.656803 [ NCBI ]
CGAP (NCI)Hs.656803
Alternative Splicing GalleryENSG00000011258
Gene ExpressionMBTD1 [ NCBI-GEO ]   MBTD1 [ EBI - ARRAY_EXPRESS ]   MBTD1 [ SEEK ]   MBTD1 [ MEM ]
Gene Expression Viewer (FireBrowse)MBTD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54799
GTEX Portal (Tissue expression)MBTD1
Human Protein AtlasENSG00000011258-MBTD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05BQ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ05BQ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ05BQ5
Splice isoforms : SwissVarQ05BQ5
PhosPhoSitePlusQ05BQ5
Domaine pattern : Prosite (Expaxy)MBT (PS51079)    ZF_FCS (PS51024)   
Domains : Interpro (EBI)Mbt    Znf_FCS    Znf_FCS_sf   
Domain families : Pfam (Sanger)MBT (PF02820)   
Domain families : Pfam (NCBI)pfam02820   
Domain families : Smart (EMBL)MBT (SM00561)  
Conserved Domain (NCBI)MBTD1
DMDM Disease mutations54799
Blocks (Seattle)MBTD1
PDB (SRS)3FEO    4C5I   
PDB (PDBSum)3FEO    4C5I   
PDB (IMB)3FEO    4C5I   
PDB (RSDB)3FEO    4C5I   
Structural Biology KnowledgeBase3FEO    4C5I   
SCOP (Structural Classification of Proteins)3FEO    4C5I   
CATH (Classification of proteins structures)3FEO    4C5I   
SuperfamilyQ05BQ5
Human Protein Atlas [tissue]ENSG00000011258-MBTD1 [tissue]
Peptide AtlasQ05BQ5
HPRD14369
IPIIPI00446447   IPI00165009   IPI00784023   
Protein Interaction databases
DIP (DOE-UCLA)Q05BQ5
IntAct (EBI)Q05BQ5
FunCoupENSG00000011258
BioGRIDMBTD1
STRING (EMBL)MBTD1
ZODIACMBTD1
Ontologies - Pathways
QuickGOQ05BQ5
Ontology : AmiGOnucleus  chromatin organization  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  methylated histone binding  embryonic skeletal system development  
Ontology : EGO-EBInucleus  chromatin organization  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  methylated histone binding  embryonic skeletal system development  
NDEx NetworkMBTD1
Atlas of Cancer Signalling NetworkMBTD1
Wikipedia pathwaysMBTD1
Orthology - Evolution
OrthoDB54799
GeneTree (enSembl)ENSG00000011258
Phylogenetic Trees/Animal Genes : TreeFamMBTD1
HOVERGENQ05BQ5
HOGENOMQ05BQ5
Homologs : HomoloGeneMBTD1
Homology/Alignments : Family Browser (UCSC)MBTD1
Gene fusions - Rearrangements
Fusion : MitelmanKANSL1/MBTD1 [17q21.31/17q21.33]  [t(17;17)(q21;q21)]  
Fusion : MitelmanMBTD1/CXorf67 [17q21.33/Xp11.22]  [t(X;17)(p11;q21)]  
Fusion : MitelmanMBTD1/EFCAB3 [17q21.33/17q23.2]  [t(17;17)(q21;q23)]  
Fusion : MitelmanMBTD1/MYO7A [17q21.33/11q13.5]  [t(11;17)(q13;q21)]  
Fusion : MitelmanMBTD1/SYBU [17q21.33/8q23.2]  [t(8;17)(q23;q21)]  
Fusion : MitelmanPITPNC1/MBTD1 [17q24.2/17q21.33]  [t(17;17)(q21;q24)]  
Fusion : MitelmanSPAG9/MBTD1 [17q21.33/17q21.33]  [t(17;17)(q21;q21)]  
Fusion PortalMBTD1 17q21.33 EFCAB3 17q23.2 BRCA
Fusion PortalMBTD1 17q21.33 MYO7A 11q13.5 BRCA
Fusion PortalMBTD1 17q21.33 SYBU 8q23.2 PRAD
Fusion PortalPITPNC1 17q24.2 MBTD1 17q21.33 BRCA
Fusion PortalSPAG9 17q21.33 MBTD1 17q21.33 OV
Fusion : QuiverMBTD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBTD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MBTD1
dbVarMBTD1
ClinVarMBTD1
1000_GenomesMBTD1 
Exome Variant ServerMBTD1
ExAC (Exome Aggregation Consortium)ENSG00000011258
GNOMAD BrowserENSG00000011258
Varsome BrowserMBTD1
Genetic variants : HAPMAP54799
Genomic Variants (DGV)MBTD1 [DGVbeta]
DECIPHERMBTD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMBTD1 
Mutations
ICGC Data PortalMBTD1 
TCGA Data PortalMBTD1 
Broad Tumor PortalMBTD1
OASIS PortalMBTD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMBTD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMBTD1
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 MBTD1
DgiDB (Drug Gene Interaction Database)MBTD1
DoCM (Curated mutations)MBTD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MBTD1 (select a term)
intoGenMBTD1
Cancer3DMBTD1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETMBTD1
MedgenMBTD1
Genetic Testing Registry MBTD1
NextProtQ05BQ5 [Medical]
TSGene54799
GENETestsMBTD1
Target ValidationMBTD1
Huge Navigator MBTD1 [HugePedia]
snp3D : Map Gene to Disease54799
BioCentury BCIQMBTD1
ClinGenMBTD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54799
Chemical/Pharm GKB GenePA134938339
Clinical trialMBTD1
Miscellaneous
canSAR (ICR)MBTD1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMBTD1
EVEXMBTD1
GoPubMedMBTD1
iHOPMBTD1
Genes in titleautomatic search in PubMed
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 : Mon Aug 27 11:34:32 CEST 2018
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