FRAS1 (Fraser extracellular matrix complex subunit 1)

2014-11-01 Affiliation

Identity

HGNC

FRAS1

LOCATION

4q21.21

LOCUSID

80144

ALIAS

FRASRS1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000138759	ENST00000325942	Q86XX4
ENSG00000138759	ENST00000502446	H0Y9A6
ENSG00000138759	ENST00000508900	H0Y9C9
ENSG00000138759	ENST00000508909	D6RCP6
ENSG00000138759	ENST00000510944	H0Y8V2
ENSG00000138759	ENST00000512123	Q86XX4

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
32643034	2021	Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.	8
33956343	2021	A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer.	4
32643034	2021	Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.	8
33956343	2021	A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer.	4
31597194	2020	Fraser extracellular matrix complex subunit 1 promotes liver metastasis of gastric cancer.	13
31999076	2020	Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.	2
31597194	2020	Fraser extracellular matrix complex subunit 1 promotes liver metastasis of gastric cancer.	13
31999076	2020	Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.	2
29618029	2018	The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.	10
29618029	2018	The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.	10
24700879	2014	Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.	47
24700879	2014	Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.	47
22283518	2013	A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.	5
23473829	2013	Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.	10
22283518	2013	A 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/css/template-nav.css