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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.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000316623.5FBN1-001117562871aaENSP00000325527.5
 
Protein coding
CCDS32232H0YN80 P35555 Q75N88
Q75N89
NM_000138
NP_000129
GENCODE basic
ENST00000560355.1FBN1-002410955aaENSP00000453901.1
 
Protein coding
H0YN80 -GENCODE basic
ENST00000559133.1FBN1-0044901853aaENSP00000453958.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000537463.2FBN1-0033766302aaENSP00000440294.2
 
Nonsense mediated decay
F6U495 H0YN80 Q75N89
--
ENST00000561429.1FBN1-009660No protein-
 
Processed transcript
---
ENST00000558230.1FBN1-006482No protein-
 
Processed transcript
---
ENST00000560720.1FBN1-008686No protein-
 
Retained intron
---
ENST00000560820.1FBN1-007579No protein-
 
Retained intron
---

Gene-based displays