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

2014-11-01  

Identity

HGNC
LRTOMT
LOCATION
11q13.4
LOCUSID
220074
ALIAS
CFAP111,DFNB63,LRRC51
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
369283212023Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.0
369283212023Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.0
345147482021Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.3
345147482021Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.3
325177082020A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.2
325177082020A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.2
257885622015Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.5
257885622015Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.5
230539912012The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.4
230539912012The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.4
217395862011A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.2
217395862011A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.2
187945262008A catechol-O-methyltransferase that is essential for auditory function in mice and humans.28
189533412008Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.34
187945262008A catechol-O-methyltransferase that is essential for auditory function in mice and humans.28

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/tumors-explorer/deep-insight-explorer/teaching-explorer/