FBN1 (fibrillin 1)

2007-02-01  

Identity

HGNC
FBN1
LOCATION
15q21.1
LOCUSID
2200
ALIAS
ACMICD,ECTOL1,FBN,GPHYSD2,MASS,MFLS,MFS1,OCTD,SGS,SSKS,WMS,WMS2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2200
MIM: 134797
HGNC: 3603
Ensembl: ENSG00000166147

Variants:

dbSNP: 2200
ClinVar: 2200
TCGA: ENSG00000166147
COSMIC: FBN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166147ENST00000316623P35555
ENSG00000166147ENST00000537463F6U495
ENSG00000166147ENST00000559133H0YND0
ENSG00000166147ENST00000560355H0YN80

Expression (GTEx)

0
50
100
150
200
250
300
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

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Elastic fibre formationREACTOMER-HSA-1566948
Integrin cell surface interactionsREACTOMER-HSA-216083

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA161907438Thoracic Aortic Aneurysms and Dissections (TAAD)DiseaseDataAnnotationassociated
PA166123310loeys-dietz syndromeDiseaseDataAnnotationassociated
PA24456ACTA2GeneDataAnnotationassociated
PA30526SMAD3GeneDataAnnotationassociated
PA31367MYH11GeneDataAnnotationassociated
PA31388MYLKGeneDataAnnotationassociated
PA36485TGFBR1GeneDataAnnotationassociated
PA36486TGFBR2GeneDataAnnotationassociated
PA444552HypertensionDiseaseLiterature, MultilinkAnnotationassociated24560520
PA444880Marfan SyndromeDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
376845202024A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.3
378403112024Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines.0
381922432024Role of asprosin and meteorin-like peptide in progression of actinic keratosis to squamous cell carcinoma.0
382178012024Salivary and serum asprosin hormone levels in the 2018 EFP/AAP classification of periodontitis stages and body mass index status: a case-control study.0
382340872024Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.1
383171752024Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification.1
383631892024The correlation between serum asprosin and left ventricular diastolic dysfunction in elderly patients with type 2 diabetes mellitus in the community.0
383635092024The mediation effect of asprosin on the association between ambient air pollution and diabetes mellitus in the elderly population in Taiyuan, China.0
384388652024Association of serum asprosin with metabolic dysfunction-associated fatty liver disease in older adult type 2 diabetic patients: a cross-sectional study.0
384480132024[Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene].1
384587562024Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.0
386700072024Targeted genetic analysis in a cohort of sporadic death from spontaneous rupture of thoracic aortic dissection in Han Chinese population.0
387736612024Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.0
389557622024[Correlation of posterior segment lesions with anterior segment biometric parameters and FBN1 genotype in patients with Marfan syndrome].0
376845202024A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.3

Citation

Dessen P

FBN1 (fibrillin 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43778/tumors-explorer/gene-explorer/js/lib/teaching-explorer/