STON1-GTF2A1L (STON1-GTF2A1L readthrough)

2014-11-01  

Identity

HGNC
STON1-GTF2A1L
LOCATION
2p16.3
LOCUSID
286749
ALIAS
ALF,GTF2A1L,GTF2A1LF,SALF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 286749
HGNC: 30651
Ensembl: ENSG00000068781

Variants:

dbSNP: 286749
ClinVar: 286749
TCGA: ENSG00000068781
COSMIC: STON1-GTF2A1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000068781ENST00000394751A0A0A6YYG5
ENSG00000068781ENST00000394754Q53S48
ENSG00000068781ENST00000405008Q53S48

Expression (GTEx)

0
1
2
3
4
5
6
7
8
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
N/A

References

Pubmed IDYearTitleCitations
287752562017A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration.2

Citation

Dessen P

STON1-GTF2A1L (STON1-GTF2A1L readthrough)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74319/ston1-gtf2a1l