Description

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

Synonyms

FBN, MASS, MFS1, OCTD, SGS, WMS

Location

Chromosome 15: 48,408,306-48,645,849 reverse strand.

GRCh38:CM000677.2

About this gene

This gene has 8 transcripts (splice variants), 63 orthologues, 12 paralogues, is a member of 2 Ensembl protein families and is associated with 17 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
FBN1-001ENST00000316623117562871aaENSP00000325527
 
Protein coding
CCDS32232P35555 NM_000138
NP_000129
TSL:1GENCODE basicAPPRIS P1
FBN1-002ENST00000560355410955aaENSP00000453901
 
Protein coding
-H0YN80 -TSL:1GENCODE basic
FBN1-004ENST000005591334901853aaENSP00000453958
 
Nonsense mediated decay
-H0YND0 -CDS 5' incompleteTSL:1
FBN1-003ENST000005374633766302aaENSP00000440294
 
Nonsense mediated decay
-F6U495 -TSL:5
FBN1-009ENST00000561429660No protein-
 
Processed transcript
---TSL:5
FBN1-006ENST00000558230482No protein-
 
Processed transcript
---TSL:3
FBN1-008ENST00000560720686No protein-
 
Retained intron
---TSL:3
FBN1-007ENST00000560820579No protein-
 
Retained intron
---TSL:3

Gene-based displays