Evidence Details for UBE2H
Basic Information Top
| Gene Symbol: | UBE2H ( E2-20K,UBC8,UBCH,UBCH2 ) |
|---|---|
| Gene Full Name: | ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) |
| Band: | 7q32.2 |
| Quick Links | Entrez ID:7328; OMIM: 601082; Uniprot ID:UBE2H_HUMAN; ENSEMBL ID: ENSG00000186591; HGNC ID: 12484 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>UBE2H|7328|nucleotide
ATGAATAAAATTTTCCATCCCAACATTGATGAAGCGTCAGGAACTGTGTGTCTAGATGTAATTAATCAAACTTGGACAGCTCTCTATGATCTTACCAATATATTT
GAGTCCTTCCTGCCTCAGTTATTGGCCTATCCTAACCCCATAGATCCTCTCAATGGTGACGCTGCAGCCATGTACCTCCACCGACCAGAAGAATACAAGCAGAAA
ATTAAAGAGTACATCCAGAAATACGCCACGGAGGAGGCGCTGAAAGAACAGGAAGAGGGTACCGGGGACAGCTCATCGGAGAGCTCTATGTCTGACTTTTCCGAA
GATGAGGCCCAGGATATGGAGTTGTAG
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ATGAATAAAATTTTCCATCCCAACATTGATGAAGCGTCAGGAACTGTGTGTCTAGATGTAATTAATCAAACTTGGACAGCTCTCTATGATCTTACCAATATATTT
GAGTCCTTCCTGCCTCAGTTATTGGCCTATCCTAACCCCATAGATCCTCTCAATGGTGACGCTGCAGCCATGTACCTCCACCGACCAGAAGAATACAAGCAGAAA
ATTAAAGAGTACATCCAGAAATACGCCACGGAGGAGGCGCTGAAAGAACAGGAAGAGGGTACCGGGGACAGCTCATCGGAGAGCTCTATGTCTGACTTTTCCGAA
GATGAGGCCCAGGATATGGAGTTGTAG
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>UBE2H|7328|protein
MNKIFHPNIDEASGTVCLDVINQTWTALYDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSE
DEAQDMEL
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MNKIFHPNIDEASGTVCLDVINQTWTALYDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSE
DEAQDMEL
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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) | No | 0 (0) | 0 (0) | 1 (3) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Schellenberg, 2006 | USA | microsatellite-based genomic screen |  | | autism | 222 | - | 222 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 0
| Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
Case Control Based Association Studies: 2
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | |||||||||||
| Vourc, 2003_1 | France | ABI Prism 377 sequencer | |  | ASD | - (4-38) |
- | 100 (-) |
- - | ||
| Vourc, 2003_2 | France | ABI Prism 377 sequencer | | | ASD | - (4-38) |
- | 100 (-) |
- - | ||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.