Evidence Details for TPMT
Basic Information Top
| Gene Symbol: | TPMT ( - ) |
|---|---|
| Gene Full Name: | thiopurine S-methyltransferase |
| Band: | 6p22.3 |
| Quick Links | Entrez ID:7172; OMIM: 187680; Uniprot ID:TPMT_HUMAN; ENSEMBL ID: ENSG00000137364; HGNC ID: 12014 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TPMT|7172|nucleotide
ATGGATGGTACAAGAACTTCACTTGACATTGAAGAGTACTCGGATACTGAGGTACAGAAAAACCAAGTACTAACTCTGGAAGAATGGCAAGACAAGTGGGTGAAC
GGCAAGACTGCTTTTCATCAGGAACAAGGACATCAGCTATTAAAGAAGCATTTAGATACTTTCCTTAAAGGCAAGAGTGGACTGAGGGTATTTTTTCCTCTTTGC
GGAAAAGCGGTTGAGATGAAATGGTTTGCAGACCGGGGACACAGTGTAGTTGGTGTGGAAATCAGTGAACTTGGGATACAAGAATTTTTTACAGAGCAGAATCTT
TCTTACTCAGAAGAACCAATCACCGAAATTCCTGGAACCAAAGTATTTAAGAGTTCTTCGGGGAACATTTCATTGTACTGTTGCAGTATTTTTGATCTTCCCAGG
ACAAATATTGGCAAATTTGACATGATTTGGGATAGAGGAGCATTAGTTGCCATCAATCCAGGTGATCGCAAATGCTATGCAGATACAATGTTTTCCCTCCTGGGA
AAGAAGTTTCAGTATCTCCTGTGTGTTCTTTCTTATGATCCAACTAAACATCCAGGTCCACCATTTTATGTTCCACATGCTGAAATTGAAAGGTTGTTTGGTAAA
ATATGCAATATACGTTGTCTTGAGAAGGTTGATGCTTTTGAAGAACGACATAAAAGTTGGGGAATTGACTGTCTTTTTGAAAAGTTATATCTACTTACAGAAAAG
TAA
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ATGGATGGTACAAGAACTTCACTTGACATTGAAGAGTACTCGGATACTGAGGTACAGAAAAACCAAGTACTAACTCTGGAAGAATGGCAAGACAAGTGGGTGAAC
GGCAAGACTGCTTTTCATCAGGAACAAGGACATCAGCTATTAAAGAAGCATTTAGATACTTTCCTTAAAGGCAAGAGTGGACTGAGGGTATTTTTTCCTCTTTGC
GGAAAAGCGGTTGAGATGAAATGGTTTGCAGACCGGGGACACAGTGTAGTTGGTGTGGAAATCAGTGAACTTGGGATACAAGAATTTTTTACAGAGCAGAATCTT
TCTTACTCAGAAGAACCAATCACCGAAATTCCTGGAACCAAAGTATTTAAGAGTTCTTCGGGGAACATTTCATTGTACTGTTGCAGTATTTTTGATCTTCCCAGG
ACAAATATTGGCAAATTTGACATGATTTGGGATAGAGGAGCATTAGTTGCCATCAATCCAGGTGATCGCAAATGCTATGCAGATACAATGTTTTCCCTCCTGGGA
AAGAAGTTTCAGTATCTCCTGTGTGTTCTTTCTTATGATCCAACTAAACATCCAGGTCCACCATTTTATGTTCCACATGCTGAAATTGAAAGGTTGTTTGGTAAA
ATATGCAATATACGTTGTCTTGAGAAGGTTGATGCTTTTGAAGAACGACATAAAAGTTGGGGAATTGACTGTCTTTTTGAAAAGTTATATCTACTTACAGAAAAG
TAA
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>TPMT|7172|protein
MDGTRTSLDIEEYSDTEVQKNQVLTLEEWQDKWVNGKTAFHQEQGHQLLKKHLDTFLKGKSGLRVFFPLCGKAVEMKWFADRGHSVVGVEISELGIQEFFTEQNL
SYSEEPITEIPGTKVFKSSSGNISLYCCSIFDLPRTNIGKFDMIWDRGALVAINPGDRKCYADTMFSLLGKKFQYLLCVLSYDPTKHPGPPFYVPHAEIERLFGK
ICNIRCLEKVDAFEERHKSWGIDCLFEKLYLLTEK
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MDGTRTSLDIEEYSDTEVQKNQVLTLEEWQDKWVNGKTAFHQEQGHQLLKKHLDTFLKGKSGLRVFFPLCGKAVEMKWFADRGHSVVGVEISELGIQEFFTEQNL
SYSEEPITEIPGTKVFKSSSGNISLYCCSIFDLPRTNIGKFDMIWDRGALVAINPGDRKCYADTMFSLLGKKFQYLLCVLSYDPTKHPGPPFYVPHAEIERLFGK
ICNIRCLEKVDAFEERHKSWGIDCLFEKLYLLTEK
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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 (0) | 0 (0) | 0 (1) | 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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top