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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/23/2012
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Angelman syndrome Monarch
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)