UBE3A
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
UBE3A (HGNC:12496) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ubiquitin protein ligase E3A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
EPVE6AP, HPVE6A
Alias symbols
AS, ANCR, E6-AP, FLJ26981
%HI
2.11(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.14(Read more about gnomAD LOEUF score)
Cytoband
15q11.2
Genomic Coordinates
GRCh37/hg19: chr15:25578875-25684203 NCBI Ensembl UCSC
GRCh38/hg38: chr15:25333728-25439056 NCBI Ensembl UCSC
MANE Select Transcript
NM_130839.5 ENST00000648336.2 (Read more about MANE Select)
Function
E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates (PubMed:10373495, PubMed:16772533, PubMed:19204938, PubMed:19233847, PubMed:19325566, PubMed:19591933, PubMed:22645313, PubMed:24273172, PubMed:24728990, PubMed:30020076). Several substrates have been identified including the BMAL1, ARC, LAMTOR1, RAD23A and RAD23B, MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppresso... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28084
ClinGen Curation ID:
CCID:008077
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
08/23/2012

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 20034088
    Abaied et al. (2010) found a frameshift mutation in UBE3A (3240_3255delinsAGATGTT) in a large family with 14 individuals affected with AS.
  • PUBMED: 19213023
    Camprubı et al. (2009) identified 11 pathogenic mutations (including 8 mutations that had not been previously reported) in UBE3A in patients with AS. One of the novel mutations was a de novo frameshift.
  • PUBMED: 8988172
    Matsuura et al. (1997) sequenced UBE3A in 11 AS patients. They found a de novo frameshift mutation (1344delAG) and a de novo nonsense mutation (R417X).
HI Evidence Comments:
Maternally inherited mutations cause Angelman syndrome.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Focal duplications of UBE3A have not been reported. 15q11-q13 maternally inherited interstitial duplications are associated with autism (608636). Please see linked region for details (15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1), ISCA-37404).

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)