Gene: UBE3A ENSG00000114062

Description

ubiquitin protein ligase E3A [Source:HGNC Symbol;Acc:12496]

Gene Synonyms

ANCR, AS, E6-AP, E6AP, EPVE6AP, FLJ26981, HPVE6A

Location

Chromosome 15: 25,582,381-25,684,128 reverse strand.

GRCh37:CM000677.1

About this gene

This gene has 6 transcripts (splice variants), 6 paralogues and is associated with 8 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000232165.3	UBE3A-001	5179	872aa	ENSP00000232165.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45191	Q05086 Q96GR7 Q9H2G0 Q9UBN9	NM_130839.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000438097.1	UBE3A-201	4491	852aa	ENSP00000411258.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS32177	Q05086 Q96GR7 Q9H2G0 Q9UBN9	NM_130838.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000566215.1	UBE3A-002	3176	852aa	ENSP00000457771.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS32177	Q05086 Q96GR7 Q9H2G0 Q9UBN9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000428984.2	UBE3A-004	2699	852aa	ENSP00000401265.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS32177	Q05086 Q96GR7 Q9H2G0 Q9UBN9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000397954.2	UBE3A-003	2628	875aa	ENSP00000381045.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45192	Q05086 Q96GR7 Q9H2G0 Q9UBN9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000604860.1	UBE3A-005	855	179aa	ENSP00000473822.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,

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Gene: UBE3A ENSG00000114062

Summary