AutismKB 2.0

Evidence Details for DNM2


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Basic Information Top
Gene Symbol:DNM2 ( CMT2M,CMTDI1,CMTDIB,DI-CMTB,DYN2,DYNII )
Gene Full Name: dynamin 2
Band: 19p13.2
Quick LinksEntrez ID:1785; OMIM: 602378; Uniprot ID:DYN2_HUMAN; ENSEMBL ID: ENSG00000079805; HGNC ID: 2974
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DNM2|1785|nucleotide
ATGGGCAACCGCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCT
GTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATT
CTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACC
GACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATC
ACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACG
CCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATG
GACGAGGGCACCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAG
AAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACG
CTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAG
AACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGATGGTCCAGCAGTTTGGGGTGGATTTTGAGAAGAGGATCGAGGGCTCAGGAGATCAG
GTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAGATGGAGTTTGACGAGAAGGACTTACGA
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>DNM2|1785|protein
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKKFTDFDEVRQEIEAET
DRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMDLANSDALKLAKEVDPQGLRTIGVITKLDLM
DEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMADRMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYK
NFRPDDPTRKTKALLQMVQQFGVDFEKRIEGSGDQVDTLELSGGARINRIFHERFPFELVKMEFDEKDLRREISYAIKNIHGVRTGLFTPDLAFEAIVKKQVVKL
KEPCLKCVDLVIQELINTVRQCTSKLSSYPRLREETERIVTTYIREREGRTKDQILLLIDIEQSYINTNHEDFIGFANAQQRSTQLNKKRAIPNQGEILVIRRGW
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Evidence summary Top

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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 1 (3)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top