R3HCC1 (R3H domain and coiled-coil containing 1)

2014-11-01  

Identity

HGNC
R3HCC1
LOCATION
8p21.3
LOCUSID
203069
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 203069
HGNC: 27329
Ensembl: ENSG00000104679

Variants:

dbSNP: 203069
ClinVar: 203069
TCGA: ENSG00000104679
COSMIC: R3HCC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104679ENST00000265806A0A0R4J2E2
ENSG00000104679ENST00000411463Q9Y3T6
ENSG00000104679ENST00000517633A0A0D9SFI4
ENSG00000104679ENST00000518840E5RHX3
ENSG00000104679ENST00000519952E5RIK1
ENSG00000104679ENST00000520480H0YBU3
ENSG00000104679ENST00000521588E5RIQ4
ENSG00000104679ENST00000522012A0A0D9SG39
ENSG00000104679ENST00000625275A0A0D9SF44

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
363080492023Association between a single nucleotide polymorphism in the R3HCC1 gene and irinotecan toxicity.1
363080492023Association between a single nucleotide polymorphism in the R3HCC1 gene and irinotecan toxicity.1
229274292012Global mapping of translation initiation sites in mammalian cells at single-nucleotide resolution.342
229274292012Global mapping of translation initiation sites in mammalian cells at single-nucleotide resolution.342
206914352010Efficacy of metformin therapy in adolescent girls with androgen excess: relation to sex hormone-binding globulin and androgen receptor polymorphisms.2
206914352010Efficacy of metformin therapy in adolescent girls with androgen excess: relation to sex hormone-binding globulin and androgen receptor polymorphisms.2

Citation

Dessen P

R3HCC1 (R3H domain and coiled-coil containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72447/r3hcc1-(r3h-domain-and-coiled-coil-containing-1)