AutismKB 2.0

Evidence Details for GCM2


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Basic Information Top
Gene Symbol:GCM2 ( GCMB,hGCMb )
Gene Full Name: glial cells missing homolog 2 (Drosophila)
Band: 6p24.2
Quick LinksEntrez ID:9247; OMIM: 603716; Uniprot ID:GCM2_HUMAN; ENSEMBL ID: ENSG00000124827; HGNC ID: 4198
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GCM2|9247|nucleotide
ATGCCGGCGGCCGCGGTGCAGGAAGCGGTCGGCGTGTGCTCCTACGGGATGCAGCTCAGCTGGGACATCAACGATCCGCAGATGCCTCAGGAGCTGGCCCTCTTT
GACCAATTCCGAGAGTGGCCTGACGGCTATGTGCGCTTCATCTACAGCAGCGATGAGAAGAAGGCACAGCGTCACCTGAGCGGCTGGGCCATGCGCAACACCAAC
AACCACAATGGCCACATCCTCAAGAAGTCGTGCCTGGGTGTGGTGGTGTGTACACAGGCCTGCACCCTGCCCGACGGTTCCCGCCTGCAGCTGAGGCCGGCCATC
TGCGACAAGGCACGGCTGAAACAGCAGAAGAAGGCATGCCCTAACTGTCATTCTGCTTTGGAGTTGATTCCTTGTCGAGGGCACAGCGGATACCCCGTAACCAAC
TTTTGGCGGCTTGATGGCAACGCGATCTTTTTTCAGGCCAAGGGAGTTCATGATCATCCAAGACCAGAGAGCAAATCAGAGACAGAAGCTAGAAGAAGCGCCATC
AAGAGACAAATGGCCTCTTTCTACCAACCCCAGAAAAAGAGAATTCGAGAATCCGAGGCAGAAGAAAATCAAGACAGCAGTGGTCATTTCAGCAACATACCTCCC
TTGGAAAATCCAGAAGACTTTGATATAGTTACTGAAACCAGCTTCCCTATTCCAGGGCAGCCTTGCCCTTCCTTCCCAAAGTCTGATGTTTACAAAGCTACCTGT
GACCTAGCCACCTTTCAAGGAGACAAAATGCCACCCTTCCAGAAATACTCAAGCCCAAGAATCTATTTGCCTAGGCCACCTTGCAGCTATGAATTGGCAAACCCT
GGTTATACAAATTCAAGCCCATATCCCACCCTTTATAAGGATTCCACCAGTATCCCTAATGACACAGACTGGGTTCATCTGAACACACTACAATGTAATGTCAAT
TCATACAGCAGCTATGAGAGAAGCTTTGATTTCACCAACAAACAGCATGGCTGGAAACCAGCTCTTGGAAAACCCAGCCTTGTGGAAAGGACTAACCATGGGCAG
TTTCAGGCCATGGCCACTCGCCCTTATTATAACCCAGAGCTTCCCTGCAGGTACCTCACGACTCCACCACCAGGTGCCCCTGCCCTACAAACCGTGATCACCACC
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>GCM2|9247|protein
MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRHLSGWAMRNTNNHNGHILKKSCLGVVVCTQACTLPDGSRLQLRPAI
CDKARLKQQKKACPNCHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHPRPESKSETEARRSAIKRQMASFYQPQKKRIRESEAEENQDSSGHFSNIPP
LENPEDFDIVTETSFPIPGQPCPSFPKSDVYKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANPGYTNSSPYPTLYKDSTSIPNDTDWVHLNTLQCNVN
SYSSYERSFDFTNKQHGWKPALGKPSLVERTNHGQFQAMATRPYYNPELPCRYLTTPPPGAPALQTVITTTTKVSYQAYQPPAMKYSDSVREVKSLSSCNYAPED
TGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDVCLSGLGSAVSYSDRVGPFFTYNNEDF
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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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top