Evidence Details for PCMT1
Basic Information Top
| Gene Symbol: | PCMT1 ( - ) |
|---|---|
| Gene Full Name: | protein-L-isoaspartate (D-aspartate) O-methyltransferase |
| Band: | 6q25.1 |
| Quick Links | Entrez ID:5110; OMIM: 176851; Uniprot ID:PIMT_HUMAN; ENSEMBL ID: ENSG00000120265; HGNC ID: 8728 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PCMT1|5110|nucleotide
ATGCCGGGAGCGCGCAGTGGCGGCAGCGGCGGCGACGGCAGTAACAGCGGCAGCTACAGCGGGGACGCGAGCGGGGCGGTGACGGTGTGGGAGGTGGTCTCACTC
TTGGGAAAACTGCTGGGCACCGTCGTCGCGCTGAAGGTGGTTCTGTACCTGCTCCGAGTGTGCTTAGCGATGGCCTGGAAATCCGGCGGCGCCAGCCACTCGGAG
CTAATCCACAATCTCCGCAAAAATGGAATCATCAAGACAGATAAAGTATTTGAAGTGATGCTGGCTACAGACCGCTCCCACTATGCAAAATGTAACCCATACATG
GATTCTCCACAATCAATAGGTTTCCAAGCAACAATCAGTGCTCCACACATGCATGCATATGCGCTAGAACTTCTATTTGATCAGTTGCATGAAGGAGCTAAAGCT
CTTGATGTAGGATCTGGAAGTGGAATCCTTACTGCATGTTTTGCACGTATGGTTGGATGTACTGGAAAAGTCATAGGAATTGATCACATTAAAGAGCTAGTAGAT
GACTCAGTAAATAATGTCAGGAAGGACGATCCAACACTTCTGTCTTCAGGGAGAGTACAGCTTGTTGTGGGGGATGGAAGAATGGGATATGCTGAAGAAGCCCCT
TATGATGCCATTCATGTGGGAGCTGCAGCCCCTGTTGTACCCCAGGCGCTAATAGATCAGTTAAAGCCCGGAGGAAGATTGATATTGCCTGTTGGTCCTGCAGGC
GGAAACCAAATGTTGGAGCAGTATGACAAGCTACAAGATGGCAGCATCAAAATGAAGCCTCTGATGGGGGTGATATACGTGCCTTTAACAGATAAAGAAAAGCAG
TGGTCCAGGTGGAAGTGA
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ATGCCGGGAGCGCGCAGTGGCGGCAGCGGCGGCGACGGCAGTAACAGCGGCAGCTACAGCGGGGACGCGAGCGGGGCGGTGACGGTGTGGGAGGTGGTCTCACTC
TTGGGAAAACTGCTGGGCACCGTCGTCGCGCTGAAGGTGGTTCTGTACCTGCTCCGAGTGTGCTTAGCGATGGCCTGGAAATCCGGCGGCGCCAGCCACTCGGAG
CTAATCCACAATCTCCGCAAAAATGGAATCATCAAGACAGATAAAGTATTTGAAGTGATGCTGGCTACAGACCGCTCCCACTATGCAAAATGTAACCCATACATG
GATTCTCCACAATCAATAGGTTTCCAAGCAACAATCAGTGCTCCACACATGCATGCATATGCGCTAGAACTTCTATTTGATCAGTTGCATGAAGGAGCTAAAGCT
CTTGATGTAGGATCTGGAAGTGGAATCCTTACTGCATGTTTTGCACGTATGGTTGGATGTACTGGAAAAGTCATAGGAATTGATCACATTAAAGAGCTAGTAGAT
GACTCAGTAAATAATGTCAGGAAGGACGATCCAACACTTCTGTCTTCAGGGAGAGTACAGCTTGTTGTGGGGGATGGAAGAATGGGATATGCTGAAGAAGCCCCT
TATGATGCCATTCATGTGGGAGCTGCAGCCCCTGTTGTACCCCAGGCGCTAATAGATCAGTTAAAGCCCGGAGGAAGATTGATATTGCCTGTTGGTCCTGCAGGC
GGAAACCAAATGTTGGAGCAGTATGACAAGCTACAAGATGGCAGCATCAAAATGAAGCCTCTGATGGGGGTGATATACGTGCCTTTAACAGATAAAGAAAAGCAG
TGGTCCAGGTGGAAGTGA
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>PCMT1|5110|protein
MPGARSGGSGGDGSNSGSYSGDASGAVTVWEVVSLLGKLLGTVVALKVVLYLLRVCLAMAWKSGGASHSELIHNLRKNGIIKTDKVFEVMLATDRSHYAKCNPYM
DSPQSIGFQATISAPHMHAYALELLFDQLHEGAKALDVGSGSGILTACFARMVGCTGKVIGIDHIKELVDDSVNNVRKDDPTLLSSGRVQLVVGDGRMGYAEEAP
YDAIHVGAAAPVVPQALIDQLKPGGRLILPVGPAGGNQMLEQYDKLQDGSIKMKPLMGVIYVPLTDKEKQWSRWK
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MPGARSGGSGGDGSNSGSYSGDASGAVTVWEVVSLLGKLLGTVVALKVVLYLLRVCLAMAWKSGGASHSELIHNLRKNGIIKTDKVFEVMLATDRSHYAKCNPYM
DSPQSIGFQATISAPHMHAYALELLFDQLHEGAKALDVGSGSGILTACFARMVGCTGKVIGIDHIKELVDDSVNNVRKDDPTLLSSGRVQLVVGDGRMGYAEEAP
YDAIHVGAAAPVVPQALIDQLKPGGRLILPVGPAGGNQMLEQYDKLQDGSIKMKPLMGVIYVPLTDKEKQWSRWK
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top