Transcript: ENST00000572338.1 GBA-001

Description

glucosidase, beta, acid [Source:HGNC Symbol;Acc:4177]

Gene Synonyms

GBA1, GC, GCB, GLUC

Location

Chromosome HSCHR1_2_CTG31: 155,219,647-155,226,429 reverse strand.

About this transcript

This transcript has 11 exons, is annotated with 16 domains and features, is associated with 3109 variant alleles and maps to 880 oligo probes.

Gene

This transcript is a product of gene ENSG00000262446.1 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	RefSeq	Flags
ENST00000574670.1	GBA-002	2387	536aa	ENSP00000458274.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	Q9UQU9	-	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,
ENST00000572338.1	GBA-001	2276	536aa	ENSP00000459642.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	Q9UQU9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000575321.1	GBA-012	1020	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-
ENST00000574935.1	GBA-005	1005	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-
ENST00000571863.1	GBA-010	892	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-
ENST00000576759.1	GBA-013	862	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-
ENST00000570868.1	GBA-009	750	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-
ENST00000576421.1	GBA-006	749	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-
ENST00000570340.1	GBA-004	740	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-
ENST00000573998.1	GBA-008	697	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-
ENST00000573812.1	GBA-007	696	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-
ENST00000570491.1	GBA-014	625	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-
ENST00000571897.1	GBA-003	559	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-
ENST00000573492.1	GBA-011	487	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-

Summary

Statistics

Exons: 11, Coding exons: 11, Transcript length: 2,276 bps, Translation length: 536 residues

Version

ENST00000572338.1

Type

Protein coding

Annotation Method

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

Stop codons

This transcript has a variant, rs1141807, that causes a stop codon to be gained in at least 10% of HapMap or 1000 Genome population(s) CSHL-HAPMAP:HapMap-YRI, CSHL-HAPMAP:HapMap-CEU, CSHL-HAPMAP:HapMap-JPT, CSHL-HAPMAP:HapMap-HCB.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000429294 (version 1)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000572338.1 GBA-001

Summary