Transcript: ENST00000316623.5 FBN1-001

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.

About this transcript

This transcript has 66 exons, is annotated with 411 domains and features, is associated with 103167 variant alleles and maps to 1809 oligo probes.

Gene

This transcript is a product of gene ENSG00000166147.9 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		-	-	-

Summary

Statistics

Exons: 66, Coding exons: 65, Transcript length: 11,756 bps, Translation length: 2,871 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P35555

CCDS

This transcript is a member of the Human CCDS set: CCDS32232

Version

ENST00000316623.5

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Stop codons

This transcript has a variant, rs363848, that causes a stop codon to be gained in at least 10% of HapMap or 1000 Genome population(s) CSHL-HAPMAP:HapMap-JPT, CSHL-HAPMAP:HapMap-CEU, CSHL-HAPMAP:HapMap-YRI, CSHL-HAPMAP:HapMap-HCB.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000417355 (version 1)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Favourite species

All species

Recent locations

Transcript: ENST00000316623.5 FBN1-001

Summary