Evidence Details for DMWD
Basic Information Top
Gene Symbol: | DMWD ( D19S593E,DMR-N9,DMRN9,gene59 ) |
---|---|
Gene Full Name: | dystrophia myotonica, WD repeat containing |
Band: | 19q13.32 |
Quick Links | Entrez ID:1762; OMIM: 609857; Uniprot ID:DMWD_HUMAN; ENSEMBL ID: ENSG00000185800; HGNC ID: 2936 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>DMWD|1762|nucleotide
ATGGCGGCGGGCGGCGCGGAGGGCGGCTCGGGCCCCGGCGCCGCCATGGGGGACTGCGCGGAGATTAAGTCGCAATTCCGCACGCGCGAGGGTTTCTACAAGCTA
CTCCCGGGCGACGGCGCCGCTCGCAGGTCGGGTCCGGCTTCCGCCCAGACTCCGGTGCCGCCTCAGCCACCGCAGCCCCCGCCCGGCCCTGCCTCCGCCTCCGGT
CCCGGCGCTGCAGGCCCCGCGTCGTCCCCGCCGCCCGCAGGCCCCGGACCCGGGCCCGCCCTGCCCGCCGTGCGCCTCAGCCTCGTGCGCCTCGGGGAGCCGGAC
AGCGCCGGGGCCGGGGAGCCGCCCGCCACGCCCGCGGGGCTGGGCTCGGGGGGAGACCGCGTCTGCTTCAACTTGGGCCGTGAGCTCTATTTCTACCCAGGCTGC
TGTCGTCGTGGGAGCCAACGGTCCATTGACCTCAACAAGCCAATTGACAAGCGGATCTACAAGGGCACCCAGCCCACCTGCCACGATTTCAACCAGTTCACTGCT
GCCACCGAGACCATCTCGCTGCTGGTGGGCTTCTCAGCGGGTCAAGTGCAGTACCTGGATCTCATCAAAAAGGACACCAGCAAGCTGTTCAATGAGGAGCGGTTG
ATCGACAAGACCAAGGTGACATATCTGAAGTGGCTGCCTGAGTCGGAGAGCCTGTTCCTGGCATCACACGCCAGTGGCCACCTGTACCTGTACAACGTCAGCCAC
CCCTGCGCCTCGGCCCCGCCCCAGTACAGCCTGCTGAAGCAGGGCGAGGGCTTCTCTGTCTATGCTGCCAAGAGCAAGGCACCCCGCAACCCGCTGGCCAAGTGG
GCGGTGGGTGAGGGGCCCCTCAACGAGTTCGCCTTCTCGCCCGATGGCCGGCACCTGGCCTGTGTGAGCCAGGATGGCTGCCTGCGCGTCTTCCACTTCGACTCC
ATGCTCCTGCGTGGGCTCATGAAGAGCTACTTTGGGGGCCTGCTGTGTGTGTGCTGGAGCCCTGACGGCCGCTACGTGGTGACGGGTGGCGAAGATGACCTGGTC
ACCGTGTGGTCCTTCACCGAGGGCCGCGTGGTGGCTCGAGGCCATGGCCACAAGTCCTGGGTCAACGCTGTGGCCTTTGACCCCTACACCACAAGGGCAGAGGAG
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ATGGCGGCGGGCGGCGCGGAGGGCGGCTCGGGCCCCGGCGCCGCCATGGGGGACTGCGCGGAGATTAAGTCGCAATTCCGCACGCGCGAGGGTTTCTACAAGCTA
CTCCCGGGCGACGGCGCCGCTCGCAGGTCGGGTCCGGCTTCCGCCCAGACTCCGGTGCCGCCTCAGCCACCGCAGCCCCCGCCCGGCCCTGCCTCCGCCTCCGGT
CCCGGCGCTGCAGGCCCCGCGTCGTCCCCGCCGCCCGCAGGCCCCGGACCCGGGCCCGCCCTGCCCGCCGTGCGCCTCAGCCTCGTGCGCCTCGGGGAGCCGGAC
AGCGCCGGGGCCGGGGAGCCGCCCGCCACGCCCGCGGGGCTGGGCTCGGGGGGAGACCGCGTCTGCTTCAACTTGGGCCGTGAGCTCTATTTCTACCCAGGCTGC
TGTCGTCGTGGGAGCCAACGGTCCATTGACCTCAACAAGCCAATTGACAAGCGGATCTACAAGGGCACCCAGCCCACCTGCCACGATTTCAACCAGTTCACTGCT
GCCACCGAGACCATCTCGCTGCTGGTGGGCTTCTCAGCGGGTCAAGTGCAGTACCTGGATCTCATCAAAAAGGACACCAGCAAGCTGTTCAATGAGGAGCGGTTG
ATCGACAAGACCAAGGTGACATATCTGAAGTGGCTGCCTGAGTCGGAGAGCCTGTTCCTGGCATCACACGCCAGTGGCCACCTGTACCTGTACAACGTCAGCCAC
CCCTGCGCCTCGGCCCCGCCCCAGTACAGCCTGCTGAAGCAGGGCGAGGGCTTCTCTGTCTATGCTGCCAAGAGCAAGGCACCCCGCAACCCGCTGGCCAAGTGG
GCGGTGGGTGAGGGGCCCCTCAACGAGTTCGCCTTCTCGCCCGATGGCCGGCACCTGGCCTGTGTGAGCCAGGATGGCTGCCTGCGCGTCTTCCACTTCGACTCC
ATGCTCCTGCGTGGGCTCATGAAGAGCTACTTTGGGGGCCTGCTGTGTGTGTGCTGGAGCCCTGACGGCCGCTACGTGGTGACGGGTGGCGAAGATGACCTGGTC
ACCGTGTGGTCCTTCACCGAGGGCCGCGTGGTGGCTCGAGGCCATGGCCACAAGTCCTGGGTCAACGCTGTGGCCTTTGACCCCTACACCACAAGGGCAGAGGAG
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>DMWD|1762|protein
MAAGGAEGGSGPGAAMGDCAEIKSQFRTREGFYKLLPGDGAARRSGPASAQTPVPPQPPQPPPGPASASGPGAAGPASSPPPAGPGPGPALPAVRLSLVRLGEPD
SAGAGEPPATPAGLGSGGDRVCFNLGRELYFYPGCCRRGSQRSIDLNKPIDKRIYKGTQPTCHDFNQFTAATETISLLVGFSAGQVQYLDLIKKDTSKLFNEERL
IDKTKVTYLKWLPESESLFLASHASGHLYLYNVSHPCASAPPQYSLLKQGEGFSVYAAKSKAPRNPLAKWAVGEGPLNEFAFSPDGRHLACVSQDGCLRVFHFDS
MLLRGLMKSYFGGLLCVCWSPDGRYVVTGGEDDLVTVWSFTEGRVVARGHGHKSWVNAVAFDPYTTRAEEAATAAGADGERSGEEEEEEPEAAGTGSAGGAPLSP
LPKAGSITYRFGSAGQDTQFCLWDLTEDVLYPHPPLARTRTLPGTPGTTPPAASSSRGGEPGPGPLPRSLSRSNSLPHPAGGGKAGGPGVAAEPGTPFSIGRFAT
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MAAGGAEGGSGPGAAMGDCAEIKSQFRTREGFYKLLPGDGAARRSGPASAQTPVPPQPPQPPPGPASASGPGAAGPASSPPPAGPGPGPALPAVRLSLVRLGEPD
SAGAGEPPATPAGLGSGGDRVCFNLGRELYFYPGCCRRGSQRSIDLNKPIDKRIYKGTQPTCHDFNQFTAATETISLLVGFSAGQVQYLDLIKKDTSKLFNEERL
IDKTKVTYLKWLPESESLFLASHASGHLYLYNVSHPCASAPPQYSLLKQGEGFSVYAAKSKAPRNPLAKWAVGEGPLNEFAFSPDGRHLACVSQDGCLRVFHFDS
MLLRGLMKSYFGGLLCVCWSPDGRYVVTGGEDDLVTVWSFTEGRVVARGHGHKSWVNAVAFDPYTTRAEEAATAAGADGERSGEEEEEEPEAAGTGSAGGAPLSP
LPKAGSITYRFGSAGQDTQFCLWDLTEDVLYPHPPLARTRTLPGTPGTTPPAASSSRGGEPGPGPLPRSLSRSNSLPHPAGGGKAGGPGVAAEPGTPFSIGRFAT
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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 |
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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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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