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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: GBE1 ENSG00000114480

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Description

glucan (1,4-alpha-), branching enzyme 1 [Source:HGNC Symbol;Acc:4180]

Gene Synonyms

APBD, GBE, GSD4

Location

Chromosome 3: 81,538,850-81,811,312 reverse strand.

GRCh37:CM000665.1

About this gene

This gene has 6 transcripts (splice variants) and is associated with 11 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000429644.2	GBE1-001	3461	702aa	ENSP00000410833.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS54612	Q04446	NM_000158.3	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,
ENST00000489715.1	GBE1-002	2513	661aa	ENSP00000419638.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PGM4	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000477426.1	GBE1-004	568	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000484687.1	GBE1-006	863	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000498468.1	GBE1-008	752	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000486920.1	GBE1-005	576	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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Summary

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