LRCH1 (leucine rich repeats and calponin homology domain containing 1)

2014-11-01  

Identity

HGNC
LRCH1
LOCATION
13q14.13
LOCUSID
23143
ALIAS
CHDC1,NP81
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23143
MIM: 610368
HGNC: 20309
Ensembl: ENSG00000136141

Variants:

dbSNP: 23143
ClinVar: 23143
TCGA: ENSG00000136141
COSMIC: LRCH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136141ENST00000311191Q9Y2L9
ENSG00000136141ENST00000389797Q9Y2L9
ENSG00000136141ENST00000389798Q9Y2L9
ENSG00000136141ENST00000463929C9J5B8
ENSG00000136141ENST00000478412C9JWE0

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
nasopharynx
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
164472292006Association between a variation in LRCH1 and knee osteoarthritis: a genome-wide single-nucleotide polymorphism association study using DNA pooling.14
164472292006Association between a variation in LRCH1 and knee osteoarthritis: a genome-wide single-nucleotide polymorphism association study using DNA pooling.14
279743012017Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis.7
180497932008Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibility.6
168916532007Genetic association analysis of LRCH1 as an osteoarthritis susceptibility locus.5
202371512010Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system.4
223250412012Genetic association analysis of LRCH-1 for knee osteoarthritis.1
318427902019LRCH1 polymorphisms linked to delayed encephalopathy after acute carbon monoxide poisoning identified by GWAS analysis followed by Sequenom MassARRAY® validation.0

Citation

Dessen P

LRCH1 (leucine rich repeats and calponin homology domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68572/lrch1