CLRN1 (clarin 1)

2014-11-01  

Identity

HGNC
CLRN1
LOCATION
3q25.1
LOCUSID
7401
ALIAS
RP61,USH3,USH3A

Other Information

Locus ID:

NCBI: 7401
MIM: 606397
HGNC: 12605
Ensembl: ENSG00000163646

Variants:

dbSNP: 7401
ClinVar: 7401
TCGA: ENSG00000163646
COSMIC: CLRN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163646ENST00000295911P58418
ENSG00000163646ENST00000327047P58418
ENSG00000163646ENST00000328863P58418
ENSG00000163646ENST00000468836C9JYI2
ENSG00000163646ENST00000644099E1ACV0
ENSG00000163646ENST00000645441A0A2R8Y8A4

Expression (GTEx)

0
1
2
3
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
354818382022Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.0
354818382022Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.0
319684012020Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.4
319684012020Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.4
310975782019Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model.3
310975782019Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model.3
294903462018The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.7
294903462018The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.7
284691442017A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.20
284691442017A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.20
257431792015Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.1
257431792015Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.1
226818932013Extended mutation spectrum of Usher syndrome in Finland.6
229649892013Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.24
226818932013Extended mutation spectrum of Usher syndrome in Finland.6

Citation

Dessen P

CLRN1 (clarin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61903/js/lib/case-report-explorer/haematological-explorer/