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	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, 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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Gene: FBN1 ENSG00000166147

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Gene: FBN1 ENSG00000166147

Summary