Evidence Details for TYMP
Basic Information Top
Gene Symbol: | TYMP ( ECGF1,MNGIE,PDECGF,TP,hPD-ECGF ) |
---|---|
Gene Full Name: | thymidine phosphorylase |
Band: | 22q13.33 |
Quick Links | Entrez ID:1890; OMIM: 131222; Uniprot ID:TYPH_HUMAN; ENSEMBL ID: ENSG00000025708; HGNC ID: 3148 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TYMP|1890|nucleotide
ATGGCAGCCTTGATGACCCCGGGAACCGGGGCCCCACCCGCGCCTGGTGACTTCTCCGGGGAAGGGAGCCAGGGACTTCCCGACCCTTCGCCAGAGCCCAAGCAG
CTCCCGGAGCTGATCCGCATGAAGCGAGACGGAGGCCGCCTGAGCGAAGCGGACATCAGGGGCTTCGTGGCCGCTGTGGTGAATGGGAGCGCGCAGGGCGCACAG
ATCGGGGCCATGCTGATGGCCATCCGACTTCGGGGCATGGATCTGGAGGAGACCTCGGTGCTGACCCAGGCCCTGGCTCAGTCGGGACAGCAGCTGGAGTGGCCA
GAGGCCTGGCGCCAGCAGCTTGTGGACAAGCATTCCACAGGGGGTGTGGGTGACAAGGTCAGCCTGGTCCTCGCACCTGCCCTGGCGGCATGTGGCTGCAAGGTG
CCAATGATCAGCGGACGTGGTCTGGGGCACACAGGAGGCACCTTGGATAAGCTGGAGTCTATTCCTGGATTCAATGTCATCCAGAGCCCAGAGCAGATGCAAGTG
CTGCTGGACCAGGCGGGCTGCTGTATCGTGGGTCAGAGTGAGCAGCTGGTTCCTGCGGACGGAATCCTATATGCAGCCAGAGATGTGACAGCCACCGTGGACAGC
CTGCCACTCATCACAGCCTCCATTCTCAGTAAGAAACTCGTGGAGGGGCTGTCCGCTCTGGTGGTGGACGTTAAGTTCGGAGGGGCCGCCGTCTTCCCCAACCAG
GAGCAGGCCCGGGAGCTGGCAAAGACGCTGGTTGGCGTGGGAGCCAGCCTAGGGCTTCGGGTCGCGGCAGCGCTGACCGCCATGGACAAGCCCCTGGGTCGCTGC
GTGGGCCACGCCCTGGAGGTGGAGGAGGCGCTGCTCTGCATGGACGGCGCAGGCCCGCCAGACTTAAGGGACCTGGTCACCACGCTCGGGGGCGCCCTGCTCTGG
CTCAGCGGACACGCGGGGACTCAGGCCCAGGGCGCTGCCCGGGTGGCCGCGGCGCTGGACGACGGCTCGGCCCTTGGCCGCTTCGAGCGGATGCTGGCGGCGCAG
GGCGTGGATCCCGGTCTGGCCCGAGCCCTGTGCTCGGGAAGTCCCGCAGAACGCCGGCAGCTGCTGCCTCGCGCCCGGGAGCAGGAGGAGCTGCTGGCGCCCGCA
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ATGGCAGCCTTGATGACCCCGGGAACCGGGGCCCCACCCGCGCCTGGTGACTTCTCCGGGGAAGGGAGCCAGGGACTTCCCGACCCTTCGCCAGAGCCCAAGCAG
CTCCCGGAGCTGATCCGCATGAAGCGAGACGGAGGCCGCCTGAGCGAAGCGGACATCAGGGGCTTCGTGGCCGCTGTGGTGAATGGGAGCGCGCAGGGCGCACAG
ATCGGGGCCATGCTGATGGCCATCCGACTTCGGGGCATGGATCTGGAGGAGACCTCGGTGCTGACCCAGGCCCTGGCTCAGTCGGGACAGCAGCTGGAGTGGCCA
GAGGCCTGGCGCCAGCAGCTTGTGGACAAGCATTCCACAGGGGGTGTGGGTGACAAGGTCAGCCTGGTCCTCGCACCTGCCCTGGCGGCATGTGGCTGCAAGGTG
CCAATGATCAGCGGACGTGGTCTGGGGCACACAGGAGGCACCTTGGATAAGCTGGAGTCTATTCCTGGATTCAATGTCATCCAGAGCCCAGAGCAGATGCAAGTG
CTGCTGGACCAGGCGGGCTGCTGTATCGTGGGTCAGAGTGAGCAGCTGGTTCCTGCGGACGGAATCCTATATGCAGCCAGAGATGTGACAGCCACCGTGGACAGC
CTGCCACTCATCACAGCCTCCATTCTCAGTAAGAAACTCGTGGAGGGGCTGTCCGCTCTGGTGGTGGACGTTAAGTTCGGAGGGGCCGCCGTCTTCCCCAACCAG
GAGCAGGCCCGGGAGCTGGCAAAGACGCTGGTTGGCGTGGGAGCCAGCCTAGGGCTTCGGGTCGCGGCAGCGCTGACCGCCATGGACAAGCCCCTGGGTCGCTGC
GTGGGCCACGCCCTGGAGGTGGAGGAGGCGCTGCTCTGCATGGACGGCGCAGGCCCGCCAGACTTAAGGGACCTGGTCACCACGCTCGGGGGCGCCCTGCTCTGG
CTCAGCGGACACGCGGGGACTCAGGCCCAGGGCGCTGCCCGGGTGGCCGCGGCGCTGGACGACGGCTCGGCCCTTGGCCGCTTCGAGCGGATGCTGGCGGCGCAG
GGCGTGGATCCCGGTCTGGCCCGAGCCCTGTGCTCGGGAAGTCCCGCAGAACGCCGGCAGCTGCTGCCTCGCGCCCGGGAGCAGGAGGAGCTGCTGGCGCCCGCA
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>TYMP|1890|protein
MAALMTPGTGAPPAPGDFSGEGSQGLPDPSPEPKQLPELIRMKRDGGRLSEADIRGFVAAVVNGSAQGAQIGAMLMAIRLRGMDLEETSVLTQALAQSGQQLEWP
EAWRQQLVDKHSTGGVGDKVSLVLAPALAACGCKVPMISGRGLGHTGGTLDKLESIPGFNVIQSPEQMQVLLDQAGCCIVGQSEQLVPADGILYAARDVTATVDS
LPLITASILSKKLVEGLSALVVDVKFGGAAVFPNQEQARELAKTLVGVGASLGLRVAAALTAMDKPLGRCVGHALEVEEALLCMDGAGPPDLRDLVTTLGGALLW
LSGHAGTQAQGAARVAAALDDGSALGRFERMLAAQGVDPGLARALCSGSPAERRQLLPRAREQEELLAPADGTVELVRALPLALVLHELGAGRSRAGEPLRLGVG
AELLVDVGQRLRRGTPWLRVHRDGPALSGPQSRALQEALVLSDRAPFAAPSPFAELVLPPQQ
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MAALMTPGTGAPPAPGDFSGEGSQGLPDPSPEPKQLPELIRMKRDGGRLSEADIRGFVAAVVNGSAQGAQIGAMLMAIRLRGMDLEETSVLTQALAQSGQQLEWP
EAWRQQLVDKHSTGGVGDKVSLVLAPALAACGCKVPMISGRGLGHTGGTLDKLESIPGFNVIQSPEQMQVLLDQAGCCIVGQSEQLVPADGILYAARDVTATVDS
LPLITASILSKKLVEGLSALVVDVKFGGAAVFPNQEQARELAKTLVGVGASLGLRVAAALTAMDKPLGRCVGHALEVEEALLCMDGAGPPDLRDLVTTLGGALLW
LSGHAGTQAQGAARVAAALDDGSALGRFERMLAAQGVDPGLARALCSGSPAERRQLLPRAREQEELLAPADGTVELVRALPLALVLHELGAGRSRAGEPLRLGVG
AELLVDVGQRLRRGTPWLRVHRDGPALSGPQSRALQEALVLSDRAPFAAPSPFAELVLPPQQ
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Evidence summary Top
Click 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) | 2 (8) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (8) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Prasad, 2000 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Goizet, 2000 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Wassink, 2001 | USA | Chromosomal analysis of G-band | autism | - | - | - | - | 278 | - | 278 | ||
Sebat, 2007 | USA | aCGH | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 | ||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 | ||
Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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