LCA5L (lebercilin LCA5 like)

2014-11-01  

Identity

HGNC
LCA5L
LOCATION
21q22.2
LOCUSID
150082
ALIAS
C21orf13
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 150082
HGNC: 1255
Ensembl: ENSG00000157578

Variants:

dbSNP: 150082
ClinVar: 150082
TCGA: ENSG00000157578
COSMIC: LCA5L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157578ENST00000288350O95447
ENSG00000157578ENST00000358268O95447
ENSG00000157578ENST00000380671O95447
ENSG00000157578ENST00000411566C9J293
ENSG00000157578ENST00000415863C9JIJ8
ENSG00000157578ENST00000418018C9JFB6
ENSG00000157578ENST00000426783C9JRD7
ENSG00000157578ENST00000434281C9J198
ENSG00000157578ENST00000438404C9J5D2
ENSG00000157578ENST00000448288C9J9Z3
ENSG00000157578ENST00000451131A0A1D5RMP5
ENSG00000157578ENST00000456017C9JYR0
ENSG00000157578ENST00000485895U3KPS7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
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
271000872016Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.12
271000872016Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.12

Citation

Dessen P

LCA5L (lebercilin LCA5 like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65187/lca5l-(lebercilin-lca5-like)