FRAS1 (Fraser extracellular matrix complex subunit 1)

2014-11-01  

Identity

HGNC
FRAS1
LOCATION
4q21.21
LOCUSID
80144
ALIAS
FRASRS1
FUSION GENES
Show Gene Fusions

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
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
127667692003Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.59
247008792014Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.32
219008772012Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.28
186712812008Molecular study of 33 families with Fraser syndrome new data and mutation review.19
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
176541182007Let's stick together: the role of the Fras1 and Frem proteins in epidermal adhesion.17
181550422008Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1.13
206027512010Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.6
234738292013Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.5
222835182013A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.3

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/fras1