Transcript: ENST00000414306.1 SBDS-005

Description

Shwachman-Bodian-Diamond syndrome [Source:HGNC Symbol;Acc:19440]

Gene Synonyms

CGI-97, FLJ10917, SDS, SWDS

Location

About this transcript

This transcript has 5 exons, is annotated with 6 domains and features, is associated with 3997 variant alleles and maps to 421 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000246868.2	SBDS-001	1631	250aa	ENSP00000246868.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5537	Q9Y3A5	NM_016038.2	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,
ENST00000414306.1	SBDS-005	1531	86aa	ENSP00000394586.1	Nonsense mediated decay		F8WE72	-	-
ENST00000490953.1	SBDS-004	841	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000463579.1	SBDS-007	513	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: 5, Coding exons: 3, Transcript length: 1,531 bps, Translation length: 86 residues

Version

ENST00000414306.1

Type

Nonsense mediated decay

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000346556 (version 1)