EnsemblEnsembl Home
Human (GRCh37.p13)
Description

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

Gene Synonyms

ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2

Location

Chromosome 15: 48,700,503-48,938,046 reverse strand.

GRCh37:CM000677.1

About this gene

This gene has 8 transcripts (splice variants), 7 paralogues and is associated with 22 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
FBN1-001ENST00000316623.5117562871aaENSP00000325527.5
 
Protein coding
CCDS32232H0YN80 P35555 Q75N88
Q75N89
NM_000138
NP_000129
GENCODE basic
FBN1-002ENST00000560355.1410955aaENSP00000453901.1
 
Protein coding
-H0YN80 -GENCODE basic
FBN1-004ENST00000559133.14901853aaENSP00000453958.1
 
Nonsense mediated decay
---CDS 5' incomplete
FBN1-003ENST00000537463.23766302aaENSP00000440294.2
 
Nonsense mediated decay
-F6U495 H0YN80 Q75N89
--
FBN1-009ENST00000561429.1660No protein-
 
Processed transcript
----
FBN1-006ENST00000558230.1482No protein-
 
Processed transcript
----
FBN1-008ENST00000560720.1686No protein-
 
Retained intron
----
FBN1-007ENST00000560820.1579No protein-
 
Retained intron
----

Gene-based displays