AutismKB 2.0

Evidence Details for CMAS


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Basic Information Top
Gene Symbol:CMAS ( - )
Gene Full Name: cytidine monophosphate N-acetylneuraminic acid synthetase
Band: 12p12.1
Quick LinksEntrez ID:55907; OMIM: 603316; Uniprot ID:NEUA_HUMAN; ENSEMBL ID: ENSG00000111726; HGNC ID: 18290
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CMAS|55907|nucleotide
ATGGACTCGGTGGAGAAGGGGGCCGCCACCTCCGTCTCCAACCCGCGGGGGCGACCGTCCCGGGGCCGGCCGCCGAAGCTGCAGCGCAACTCTCGCGGCGGCCAG
GGCCGAGGTGTGGAGAAGCCCCCGCACCTGGCAGCCCTAATTCTGGCCCGGGGAGGCAGCAAAGGCATCCCCCTGAAGAACATTAAGCACCTGGCGGGGGTCCCG
CTCATTGGCTGGGTCCTGCGTGCGGCCCTGGATTCAGGGGCCTTCCAGAGTGTATGGGTTTCGACAGACCATGATGAAATTGAGAATGTGGCCAAACAATTTGGT
GCACAAGTTCATCGAAGAAGTTCTGAAGTTTCAAAAGACAGCTCTACCTCACTAGATGCCATCATAGAATTTCTTAATTATCATAATGAGGTTGACATTGTAGGA
AATATTCAAGCTACTTCTCCATGTTTACATCCTACTGATCTTCAAAAAGTTGCAGAAATGATTCGAGAAGAAGGATATGATTCTGTTTTCTCTGTTGTGAGACGC
CATCAGTTTCGATGGAGTGAAATTCAGAAAGGAGTTCGTGAAGTGACCGAACCTCTGAATTTAAATCCAGCTAAACGGCCTCGTCGACAAGACTGGGATGGAGAA
TTATATGAAAATGGCTCATTTTATTTTGCTAAAAGACATTTGATAGAGATGGGTTACTTGCAGGGTGGAAAAATGGCATACTACGAAATGCGAGCTGAACATAGT
GTGGATATAGATGTGGATATTGATTGGCCTATTGCAGAGCAAAGAGTATTAAGATATGGCTATTTTGGCAAAGAGAAGCTTAAGGAAATAAAACTTTTGGTTTGC
AATATTGATGGATGTCTCACCAATGGCCACATTTATGTATCAGGAGACCAAAAAGAAATAATATCTTATGATGTAAAAGATGCTATTGGGATAAGTTTATTAAAG
AAAAGTGGTATTGAGGTGAGGCTAATCTCAGAAAGGGCCTGTTCAAAGCAGACGCTGTCTTCTTTAAAACTGGATTGCAAAATGGAAGTCAGTGTATCAGACAAG
CTAGCAGTTGTAGATGAATGGAGAAAAGAAATGGGCCTGTGCTGGAAAGAAGTGGCATATCTTGGAAATGAAGTGTCTGATGAAGAGTGCTTGAAGAGAGTGGGC
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>CMAS|55907|protein
MDSVEKGAATSVSNPRGRPSRGRPPKLQRNSRGGQGRGVEKPPHLAALILARGGSKGIPLKNIKHLAGVPLIGWVLRAALDSGAFQSVWVSTDHDEIENVAKQFG
AQVHRRSSEVSKDSSTSLDAIIEFLNYHNEVDIVGNIQATSPCLHPTDLQKVAEMIREEGYDSVFSVVRRHQFRWSEIQKGVREVTEPLNLNPAKRPRRQDWDGE
LYENGSFYFAKRHLIEMGYLQGGKMAYYEMRAEHSVDIDVDIDWPIAEQRVLRYGYFGKEKLKEIKLLVCNIDGCLTNGHIYVSGDQKEIISYDVKDAIGISLLK
KSGIEVRLISERACSKQTLSSLKLDCKMEVSVSDKLAVVDEWRKEMGLCWKEVAYLGNEVSDEECLKRVGLSGAPADACSTAQKAVGYICKCNGGRGAIREFAEH
ICLLMEKVNNSCQK
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top