Evidence Details for PSMA3
Basic Information Top
| Gene Symbol: | PSMA3 ( HC8,MGC12306,MGC32631,PSC3 ) |
|---|---|
| Gene Full Name: | proteasome (prosome, macropain) subunit, alpha type, 3 |
| Band: | 14q23.1 |
| Quick Links | Entrez ID:5684; OMIM: 176843; Uniprot ID:PSA3_HUMAN; ENSEMBL ID: ENSG00000100567; HGNC ID: 9532 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PSMA3|5684|nucleotide
ATGAGCTCAATCGGCACTGGGTATGACCTGTCAGCCTCTACATTCTCTCCTGACGGAAGAGTTTTTCAAGTTGAATATGCTATGAAGGCTGTGGAAAATAGTAGT
ACAGCTATTGGAATCAGATGCAAAGATGGTGTTGTCTTTGGGGTAGAAAAATTAGTCCTTTCTAAACTTTATGAAGAAGGTTCCAACAAAAGACTTTTTAATGTT
GATCGGCATGTTGGAATGGCAGTAGCAGGTTTGTTGGCAGATGCTCGTTCTTTAGCAGACATAGCAAGAGAAGAAGCTTCCAACTTCAGATCTAACTTTGGCTAC
AACATTCCACTAAAACATCTTGCAGACAGAGTGGCCATGTATGTGCATGCATATACACTCTACAGTGCTGTTAGACCTTTTGGCTGCAGTTTCATGTTAGGGTCT
TACAGTGTGAATGACGGTGCGCAACTCTACATGATTGACCCATCAGGTGTTTCATACGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACG
GAAATAGAGAAGCTTCAGATGAAAGAAATGACCTGCCGTGATATCGTTAAAGAAGTTGCAAAAATAATTTACATAGTACATGACGAAGTTAAGGATAAAGCTTTT
GAACTAGAACTCAGCTGGGTTGGTGAATTAACTAATGGAAGACATGAAATTGTTCCAAAAGATATAAGAGAAGAAGCAGAGAAATATGCTAAGGAATCTCTGAAG
GAAGAAGATGAATCAGATGATGATAATATGTAA
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ATGAGCTCAATCGGCACTGGGTATGACCTGTCAGCCTCTACATTCTCTCCTGACGGAAGAGTTTTTCAAGTTGAATATGCTATGAAGGCTGTGGAAAATAGTAGT
ACAGCTATTGGAATCAGATGCAAAGATGGTGTTGTCTTTGGGGTAGAAAAATTAGTCCTTTCTAAACTTTATGAAGAAGGTTCCAACAAAAGACTTTTTAATGTT
GATCGGCATGTTGGAATGGCAGTAGCAGGTTTGTTGGCAGATGCTCGTTCTTTAGCAGACATAGCAAGAGAAGAAGCTTCCAACTTCAGATCTAACTTTGGCTAC
AACATTCCACTAAAACATCTTGCAGACAGAGTGGCCATGTATGTGCATGCATATACACTCTACAGTGCTGTTAGACCTTTTGGCTGCAGTTTCATGTTAGGGTCT
TACAGTGTGAATGACGGTGCGCAACTCTACATGATTGACCCATCAGGTGTTTCATACGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACG
GAAATAGAGAAGCTTCAGATGAAAGAAATGACCTGCCGTGATATCGTTAAAGAAGTTGCAAAAATAATTTACATAGTACATGACGAAGTTAAGGATAAAGCTTTT
GAACTAGAACTCAGCTGGGTTGGTGAATTAACTAATGGAAGACATGAAATTGTTCCAAAAGATATAAGAGAAGAAGCAGAGAAATATGCTAAGGAATCTCTGAAG
GAAGAAGATGAATCAGATGATGATAATATGTAA
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>PSMA3|5684|protein
MSSIGTGYDLSASTFSPDGRVFQVEYAMKAVENSSTAIGIRCKDGVVFGVEKLVLSKLYEEGSNKRLFNVDRHVGMAVAGLLADARSLADIAREEASNFRSNFGY
NIPLKHLADRVAMYVHAYTLYSAVRPFGCSFMLGSYSVNDGAQLYMIDPSGVSYGYWGCAIGKARQAAKTEIEKLQMKEMTCRDIVKEVAKIIYIVHDEVKDKAF
ELELSWVGELTNGRHEIVPKDIREEAEKYAKESLKEEDESDDDNM
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MSSIGTGYDLSASTFSPDGRVFQVEYAMKAVENSSTAIGIRCKDGVVFGVEKLVLSKLYEEGSNKRLFNVDRHVGMAVAGLLADARSLADIAREEASNFRSNFGY
NIPLKHLADRVAMYVHAYTLYSAVRPFGCSFMLGSYSVNDGAQLYMIDPSGVSYGYWGCAIGKARQAAKTEIEKLQMKEMTCRDIVKEVAKIIYIVHDEVKDKAF
ELELSWVGELTNGRHEIVPKDIREEAEKYAKESLKEEDESDDDNM
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
Syndromic Autism Gene TopGenome-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 | ||||||
| Christian, 2008 | USA | aCGH |  | | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
Linkage Studies Top