LRTOMT (leucine rich transmembrane and O-methyltransferase domain containing)

2014-11-01  

Identity

HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
CFAP111,DFNB63,LRRC51
FUSION GENES

Other Information

Locus ID:

NCBI: 220074
MIM: 612414
HGNC: 25033
Ensembl: ENSG00000184154

Variants:

dbSNP: 220074
ClinVar: 220074
TCGA: ENSG00000184154
COSMIC: LRTOMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184154ENST00000289488Q96E66
ENSG00000184154ENST00000289488A0A024R5L6
ENSG00000184154ENST00000307198Q8WZ04
ENSG00000184154ENST00000324866Q96E66
ENSG00000184154ENST00000423494Q96E66
ENSG00000184154ENST00000435085Q8WZ04
ENSG00000184154ENST00000447974Q96E66
ENSG00000184154ENST00000447974A0A024R5L6
ENSG00000184154ENST00000535883F5H6K5
ENSG00000184154ENST00000536917Q96E66
ENSG00000184154ENST00000537483F5H614
ENSG00000184154ENST00000538413Q96E66
ENSG00000184154ENST00000538413A0A024R5L6
ENSG00000184154ENST00000538478Q96E66
ENSG00000184154ENST00000538478A0A024R5L6
ENSG00000184154ENST00000539271F5H6F7
ENSG00000184154ENST00000539587F5H6F7
ENSG00000184154ENST00000541614Q96E66
ENSG00000184154ENST00000542846F5GYI0
ENSG00000184154ENST00000615940Q96E66
ENSG00000184154ENST00000642478F5H6K5
ENSG00000184154ENST00000642510F5H6F7
ENSG00000184154ENST00000642648Q96E66
ENSG00000184154ENST00000642648A0A024R5L6
ENSG00000184154ENST00000645358F5H6K5
ENSG00000184154ENST00000647530Q96E66
ENSG00000184154ENST00000647530A0A024R5L6

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
189533412008Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.28
187945262008A catechol-O-methyltransferase that is essential for auditory function in mice and humans.23
170662952007Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.9
171661802007Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.8
172116112007A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.7
257885622015Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.3
217395862011A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.2
230539912012The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.2

Citation

Dessen P

LRTOMT (leucine rich transmembrane and O-methyltransferase domain containing)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68678/lrtomt