FRAS1 (Fraser extracellular matrix complex subunit 1)

2014-11-01  

Identity

HGNC
LOCATION
4q21.21
LOCUSID
ALIAS
FRASRS1
FUSION GENES

Other Information

Locus ID:

NCBI: 80144
MIM: 607830
HGNC: 19185
Ensembl: ENSG00000138759

Variants:

dbSNP: 80144
ClinVar: 80144
TCGA: ENSG00000138759
COSMIC: FRAS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138759ENST00000325942Q86XX4
ENSG00000138759ENST00000502446H0Y9A6
ENSG00000138759ENST00000508900H0Y9C9
ENSG00000138759ENST00000508909D6RCP6
ENSG00000138759ENST00000510944H0Y8V2
ENSG00000138759ENST00000512123Q86XX4

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
326430342021Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.8
339563432021A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer.4
326430342021Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.8
339563432021A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer.4
315971942020Fraser extracellular matrix complex subunit 1 promotes liver metastasis of gastric cancer.13
319990762020Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.2
315971942020Fraser extracellular matrix complex subunit 1 promotes liver metastasis of gastric cancer.13
319990762020Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.2
296180292018The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.10
296180292018The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.10
247008792014Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.47
247008792014Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.47
222835182013A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.5
234738292013Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.10
222835182013A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.5

Citation

Dessen P

FRAS1 (Fraser extracellular matrix complex subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63583/gene-explorer/meetings/js/lib/jquery-3.5.1.min.js