MBTD1 (mbt domain containing 1)

2014-03-01  

Identity

HGNC
LOCATION
17q21.33
LOCUSID
ALIAS
SA49P01
FUSION GENES

Other Information

Locus ID:

NCBI: 54799
MIM: 618705
HGNC: 19866
Ensembl: ENSG00000011258

Variants:

dbSNP: 54799
ClinVar: 54799
TCGA: ENSG00000011258
COSMIC: MBTD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000011258ENST00000376381Q05BQ5
ENSG00000011258ENST00000405860Q05BQ5
ENSG00000011258ENST00000415868Q05BQ5
ENSG00000011258ENST00000586178Q05BQ5
ENSG00000011258ENST00000586898K7EQ11

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198416752009Structural studies of a four-MBT repeat protein MBTD1.23
239599732014Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma.21
266085082016Recurrent translocation t(10;17)(p15;q21) in minimally differentiated acute myeloid leukemia results in ZMYND11/MBTD1 fusion.4

Citation

Dessen P

MBTD1 (mbt domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version: http://atlasgeneticsoncology.org/gene/53715/mbtd1