Gene: FBN1 ENSG00000166147

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 29 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000316623.5	FBN1-001	11756	2871aa	ENSP00000325527.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS32232	H0YN80 P35555 Q75N88 Q75N89	NM_000138.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000560355.1	FBN1-002	4109	55aa	ENSP00000453901.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YN80	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000559133.1	FBN1-004	4901	853aa	ENSP00000453958.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000537463.2	FBN1-003	3766	302aa	ENSP00000440294.2	Nonsense mediated decay		F6U495 H0YN80 Q75N89	-	-
ENST00000561429.1	FBN1-009	660	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000558230.1	FBN1-006	482	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000560720.1	FBN1-008	686	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000560820.1	FBN1-007	579	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Recent locations

Gene: FBN1 ENSG00000166147

Summary