Evidence Details for UBE3A
Basic Information Top
| Gene Symbol: | UBE3A ( ANCR,AS,E6-AP,EPVE6AP,FLJ26981,HPVE6A ) |
|---|---|
| Gene Full Name: | ubiquitin protein ligase E3A |
| Band: | 15q11.2 |
| Quick Links | Entrez ID:7337; OMIM: 601623; Uniprot ID:UBE3A_HUMAN; ENSEMBL ID: ENSG00000114062; HGNC ID: 12496 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>UBE3A|7337|nucleotide
ATGGAGAAGCTGCACCAGTGTTATTGGAAATCAGGAGAACCTCAGTCTGACGACATTGAAGCTAGCCGAATGAAGCGAGCAGCTGCAAAGCATCTAATAGAACGC
TACTACCACCAGTTAACTGAGGGCTGTGGAAATGAAGCCTGCACGAATGAGTTTTGTGCTTCCTGTCCAACTTTTCTTCGTATGGATAATAATGCAGCAGCTATT
AAAGCCCTCGAGCTTTATAAGATTAATGCAAAACTCTGTGATCCTCATCCCTCCAAGAAAGGAGCAAGCTCAGCTTACCTTGAGAACTCGAAAGGTGCCCCCAAC
AACTCCTGCTCTGAGATAAAAATGAACAAGAAAGGCGCTAGAATTGATTTTAAAGATGTGACTTACTTAACAGAAGAGAAGGTATATGAAATTCTTGAATTATGT
AGAGAAAGAGAGGATTATTCCCCTTTAATCCGTGTTATTGGAAGAGTTTTTTCTAGTGCTGAGGCATTGGTACAGAGCTTCCGGAAAGTTAAACAACACACCAAG
GAAGAACTGAAATCTCTTCAAGCAAAAGATGAAGACAAAGATGAAGATGAAAAGGAAAAAGCTGCATGTTCTGCTGCTGCTATGGAAGAAGACTCAGAAGCATCT
TCCTCAAGGATAGGTGATAGCTCACAGGGAGACAACAATTTGCAAAAATTAGGCCCTGATGATGTGTCTGTGGATATTGATGCCATTAGAAGGGTCTACACCAGA
TTGCTCTCTAATGAAAAAATTGAAACTGCCTTTCTCAATGCACTTGTATATTTGTCACCTAACGTGGAATGTGACTTGACGTATCACAATGTATACTCTCGAGAT
CCTAATTATCTGAATTTGTTCATTATCGTAATGGAGAATAGAAATCTCCACAGTCCTGAATATCTGGAAATGGCTTTGCCATTATTTTGCAAAGCGATGAGCAAG
CTACCCCTTGCAGCCCAAGGAAAACTGATCAGACTGTGGTCTAAATACAATGCAGACCAGATTCGGAGAATGATGGAGACATTTCAGCAACTTATTACTTATAAA
GTCATAAGCAATGAATTTAACAGTCGAAATCTAGTGAATGATGATGATGCCATTGTTGCTGCTTCGAAGTGCTTGAAAATGGTTTACTATGCAAATGTAGTGGGA
Show »
ATGGAGAAGCTGCACCAGTGTTATTGGAAATCAGGAGAACCTCAGTCTGACGACATTGAAGCTAGCCGAATGAAGCGAGCAGCTGCAAAGCATCTAATAGAACGC
TACTACCACCAGTTAACTGAGGGCTGTGGAAATGAAGCCTGCACGAATGAGTTTTGTGCTTCCTGTCCAACTTTTCTTCGTATGGATAATAATGCAGCAGCTATT
AAAGCCCTCGAGCTTTATAAGATTAATGCAAAACTCTGTGATCCTCATCCCTCCAAGAAAGGAGCAAGCTCAGCTTACCTTGAGAACTCGAAAGGTGCCCCCAAC
AACTCCTGCTCTGAGATAAAAATGAACAAGAAAGGCGCTAGAATTGATTTTAAAGATGTGACTTACTTAACAGAAGAGAAGGTATATGAAATTCTTGAATTATGT
AGAGAAAGAGAGGATTATTCCCCTTTAATCCGTGTTATTGGAAGAGTTTTTTCTAGTGCTGAGGCATTGGTACAGAGCTTCCGGAAAGTTAAACAACACACCAAG
GAAGAACTGAAATCTCTTCAAGCAAAAGATGAAGACAAAGATGAAGATGAAAAGGAAAAAGCTGCATGTTCTGCTGCTGCTATGGAAGAAGACTCAGAAGCATCT
TCCTCAAGGATAGGTGATAGCTCACAGGGAGACAACAATTTGCAAAAATTAGGCCCTGATGATGTGTCTGTGGATATTGATGCCATTAGAAGGGTCTACACCAGA
TTGCTCTCTAATGAAAAAATTGAAACTGCCTTTCTCAATGCACTTGTATATTTGTCACCTAACGTGGAATGTGACTTGACGTATCACAATGTATACTCTCGAGAT
CCTAATTATCTGAATTTGTTCATTATCGTAATGGAGAATAGAAATCTCCACAGTCCTGAATATCTGGAAATGGCTTTGCCATTATTTTGCAAAGCGATGAGCAAG
CTACCCCTTGCAGCCCAAGGAAAACTGATCAGACTGTGGTCTAAATACAATGCAGACCAGATTCGGAGAATGATGGAGACATTTCAGCAACTTATTACTTATAAA
GTCATAAGCAATGAATTTAACAGTCGAAATCTAGTGAATGATGATGATGCCATTGTTGCTGCTTCGAAGTGCTTGAAAATGGTTTACTATGCAAATGTAGTGGGA
Show »
>UBE3A|7337|protein
MEKLHQCYWKSGEPQSDDIEASRMKRAAAKHLIERYYHQLTEGCGNEACTNEFCASCPTFLRMDNNAAAIKALELYKINAKLCDPHPSKKGASSAYLENSKGAPN
NSCSEIKMNKKGARIDFKDVTYLTEEKVYEILELCREREDYSPLIRVIGRVFSSAEALVQSFRKVKQHTKEELKSLQAKDEDKDEDEKEKAACSAAAMEEDSEAS
SSRIGDSSQGDNNLQKLGPDDVSVDIDAIRRVYTRLLSNEKIETAFLNALVYLSPNVECDLTYHNVYSRDPNYLNLFIIVMENRNLHSPEYLEMALPLFCKAMSK
LPLAAQGKLIRLWSKYNADQIRRMMETFQQLITYKVISNEFNSRNLVNDDDAIVAASKCLKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNK
KGPRVDPLETELGVKTLDCRKPLIPFEEFINEPLNEVLEMDKDYTFFKVETENKFSFMTCPFILNAVTKNLGLYYDNRIRMYSERRITVLYSLVQGQQLNPYLRL
Show »
MEKLHQCYWKSGEPQSDDIEASRMKRAAAKHLIERYYHQLTEGCGNEACTNEFCASCPTFLRMDNNAAAIKALELYKINAKLCDPHPSKKGASSAYLENSKGAPN
NSCSEIKMNKKGARIDFKDVTYLTEEKVYEILELCREREDYSPLIRVIGRVFSSAEALVQSFRKVKQHTKEELKSLQAKDEDKDEDEKEKAACSAAAMEEDSEAS
SSRIGDSSQGDNNLQKLGPDDVSVDIDAIRRVYTRLLSNEKIETAFLNALVYLSPNVECDLTYHNVYSRDPNYLNLFIIVMENRNLHSPEYLEMALPLFCKAMSK
LPLAAQGKLIRLWSKYNADQIRRMMETFQQLITYKVISNEFNSRNLVNDDDAIVAASKCLKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNK
KGPRVDPLETELGVKTLDCRKPLIPFEEFINEPLNEVLEMDKDYTFFKVETENKFSFMTCPFILNAVTKNLGLYYDNRIRMYSERRITVLYSLVQGQQLNPYLRL
Show »
Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | Yes | 0 (0) | 2 (20) | 0 (0) | 1 (4) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 1 (2) | 25 (28) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AD |
|---|---|
| OMIM | Angelman syndrome (105830) |
| Description | Angelman syndrome is an imprinting disorder caused by maternal deletion of chromosome 15, paternal uniparental disomy, imprinting defect, or UBE3A mutation. Over one-half of the patients with Angelman syndrome have ASD |
| Reference(s) | 17415598; 16183798; 15165432; 21831244; |
| Level | Level 4: The disorder is a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Wolpert, 2000 | - | STS mapping |  |  | autism | 3 | - | 3 | - | 3 | - | 3 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Silva, 2002 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Keller, 2003 | USA | FISH | | | ASD | - | - | - | - | 2 | - | 2 |
| Mann, 2004 | - | STS mapping | | | PDD-NOS | - | - | - | - | 2 | - | 2 |
| Sahoo, 2005 | USA | aCGH | | | autism | - | - | - | - | 9 | - | 9 |
| Jacquemont, 2006 | France | aCGH | | | ASD | - | - | - | - | 29 | - | 29 |
| Kwasnicka-Crawford, 2007 | - | STS mapping | | | autism | - | - | - | - | 1 | - | 1 |
| Sebat, 2007 | USA | aCGH | | | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Wassink, 2007 | USA | FISH | | | PDD | - | - | - | - | 104 | - | 104 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Christian, 2008 | USA | aCGH | | | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
| Weiss, 2008 | USA, Ireland | aCGH, SNP microarray | | | ASD | 751 | - | - | - | 2252 | 23502 | 25754 |
| Bucan, 2009 | USA | SNP microarray | | | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
| Bremer, 2009 | - | aCGH | | | ASD | - | - | - | - | 148 | - | 148 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top