C17orf49 (chromosome 17 open reading frame 49)

2017-08-01  

Identity

HGNC
C17orf49
LOCATION
17p13.1
LOCUSID
124944
ALIAS
BAP18,HEPIS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 124944
MIM: 617215
HGNC: 28737
Ensembl: ENSG00000258315

Variants:

dbSNP: 124944
ClinVar: 124944
TCGA: ENSG00000258315
COSMIC: C17orf49

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000258315ENST00000439424Q8IXM2
ENSG00000258315ENST00000546495Q8IXM2
ENSG00000258315ENST00000546760F8W038
ENSG00000258315ENST00000547747K7ES76
ENSG00000258315ENST00000552402Q8IXM2
ENSG00000258315ENST00000552775F8W1H0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
380423102024BAP18 acting as a novel peroxisome proliferator-activated receptor α co-regulator contributes to hepatocellular carcinoma progression.0
380423102024BAP18 acting as a novel peroxisome proliferator-activated receptor α co-regulator contributes to hepatocellular carcinoma progression.0
368289162023BAP18 facilitates CTCF-mediated chromatin accessible to regulate enhancer activity in breast cancer.0
368289162023BAP18 facilitates CTCF-mediated chromatin accessible to regulate enhancer activity in breast cancer.0
355870572022BAP18 induces growth of non-small-cell lung carcinoma through upregulating transcriptional level of CCND1/2.1
355870572022BAP18 induces growth of non-small-cell lung carcinoma through upregulating transcriptional level of CCND1/2.1
321131622020BAP18 is involved in upregulation of CCND1/2 transcription to promote cell growth in oral squamous cell carcinoma.6
329868412020An H3K4me3 reader, BAP18 as an adaptor of COMPASS-like core subunits co-activates ERα action and associates with the sensitivity of antiestrogen in breast cancer.10
321131622020BAP18 is involved in upregulation of CCND1/2 transcription to promote cell growth in oral squamous cell carcinoma.6
329868412020An H3K4me3 reader, BAP18 as an adaptor of COMPASS-like core subunits co-activates ERα action and associates with the sensitivity of antiestrogen in breast cancer.10
272264922016BAP18 coactivates androgen receptor action and promotes prostate cancer progression.0
272264922016BAP18 coactivates androgen receptor action and promotes prostate cancer progression.0

Citation

Dessen P

C17orf49 (chromosome 17 open reading frame 49)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56925/css/gene-fusions/?id=56925