Human (GRCh38.p14)
Description

fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]

Gene Synonyms

FBN, MASS, MFS1, OCTD, SGS, WMS

Location

Chromosome 15: 48,408,313-48,645,721 reverse strand.

GRCh38:CM000677.2

About this gene

This gene has 13 transcripts (splice variants), 238 orthologues, 2 paralogues and is associated with 26 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000316623.10FBN1-201116092871aaENSP00000325527.5
 
Protein coding
CCDS32232P35555 NM_000138.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000560355.1FBN1-205410955aaENSP00000453901.1
 
Protein coding
H0YN80 -GENCODE basicTSL:1
ENST00000559133.6FBN1-20499102417aaENSP00000453958.2
 
Nonsense mediated decay
H0YND0 -TSL:1
ENST00000674301.2FBN1-20889952217aaENSP00000501333.2
 
Nonsense mediated decay
A0A6I8PL22 --
ENST00000537463.6FBN1-2023766302aaENSP00000440294.2
 
Nonsense mediated decay
F6U495 -TSL:5
ENST00000561429.1FBN1-207660No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000558230.1FBN1-203482No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000682170.1FBN1-2105283No protein-
 
Retained intron
---
ENST00000684448.1FBN1-2135150No protein-
 
Retained intron
---
ENST00000682767.1FBN1-2114399No protein-
 
Retained intron
---
ENST00000682158.1FBN1-2092885No protein-
 
Retained intron
---
ENST00000683268.1FBN1-212967No protein-
 
Retained intron
---
ENST00000560820.1FBN1-206579No protein-
 
Retained intron
--TSL:3