AutismKB 2.0

Evidence Details for DMC1


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Basic Information Top
Gene Symbol:DMC1 ( DMC1H,HsLim15,LIM15,MGC150472,MGC150473,dJ199H16.1 )
Gene Full Name: DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)
Band: 22q13.1
Quick LinksEntrez ID:11144; OMIM: 602721; Uniprot ID:DMC1_HUMAN; ENSEMBL ID: ENSG00000100206; HGNC ID: 2927
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DMC1|11144|nucleotide
ATGAAGGAGGATCAAGTTGTGGCGGAAGAACCAGGATTCCAAGATGAAGAGGAATCTTTGTTTCAAGATATTGACCTGTTACAGAAACATGGAATTAACGTGGCT
GACATTAAGAAACTGAAATCAGTAGGAATCTGTACCATCAAAGGTATACAGATGACAACAAGAAGAGCTCTATGCAATGTCAAAGGACTCTCAGAAGCCAAAGTA
GACAAGATTAAAGAGGCAGCGAACAAACTAATTGAACCAGGATTCTTGACTGCATTTGAGTATAGTGAAAAGAGGAAAATGGTTTTCCATATCACCACCGGGAGC
CAGGAATTTGATAAGTTACTAGGAGGTGGAATTGAAAGTATGGCAATTACAGAAGCTTTTGGAGAATTTCGTACTGGAAAAACCCAGCTTTCTCATACCCTCTGT
GTGACAGCTCAACTTCCAGGAGCTGGTGGCTACCCAGGAGGAAAGATTATCTTCATTGATACAGAAAATACTTTCCGTCCAGATCGCCTTAGGGACATTGCTGAT
CGCTTTAATGTAGACCATGATGCAGTACTGGACAACGTACTTTATGCACGTGCATATACTAGTGAACATCAGATGGAGCTACTTGATTATGTAGCAGCAAAGTTC
CATGAAGAAGCTGGCATCTTCAAGCTATTGATTATCGATTCAATAATGGCACTTTTTCGAGTGGATTTCAGTGGCCGTGGGGAGTTGGCCGAACGGCAGCAAAAA
TTGGCCCAGATGTTGTCACGACTCCAAAAAATCTCAGAAGAATATAACGTGGCTGTTTTTGTGACCAATCAAATGACTGCCGATCCAGGAGCAACTATGACCTTT
CAGGCAGATCCCAAAAAACCCATTGGGGGACACATTCTGGCTCATGCTTCAACAACAAGAATAAGCTTGCGAAAGGGAAGAGGAGAGCTCAGAATTGCCAAGATT
TATGACAGTCCTGAGATGCCTGAAAATGAAGCCACCTTCGCAATAACTGCTGGAGGAATTGGGGATGCCAAGGAGTAG

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>DMC1|11144|protein
MKEDQVVAEEPGFQDEEESLFQDIDLLQKHGINVADIKKLKSVGICTIKGIQMTTRRALCNVKGLSEAKVDKIKEAANKLIEPGFLTAFEYSEKRKMVFHITTGS
QEFDKLLGGGIESMAITEAFGEFRTGKTQLSHTLCVTAQLPGAGGYPGGKIIFIDTENTFRPDRLRDIADRFNVDHDAVLDNVLYARAYTSEHQMELLDYVAAKF
HEEAGIFKLLIIDSIMALFRVDFSGRGELAERQQKLAQMLSRLQKISEEYNVAVFVTNQMTADPGATMTFQADPKKPIGGHILAHASTTRISLRKGRGELRIAKI
YDSPEMPENEATFAITAGGIGDAKE

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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top