Evidence Details for GCM2
Basic Information Top
Gene Symbol: | GCM2 ( GCMB,hGCMb ) |
---|---|
Gene Full Name: | glial cells missing homolog 2 (Drosophila) |
Band: | 6p24.2 |
Quick Links | Entrez 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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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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MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRHLSGWAMRNTNNHNGHILKKSCLGVVVCTQACTLPDGSRLQLRPAI
CDKARLKQQKKACPNCHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHPRPESKSETEARRSAIKRQMASFYQPQKKRIRESEAEENQDSSGHFSNIPP
LENPEDFDIVTETSFPIPGQPCPSFPKSDVYKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANPGYTNSSPYPTLYKDSTSIPNDTDWVHLNTLQCNVN
SYSSYERSFDFTNKQHGWKPALGKPSLVERTNHGQFQAMATRPYYNPELPCRYLTTPPPGAPALQTVITTTTKVSYQAYQPPAMKYSDSVREVKSLSSCNYAPED
TGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDVCLSGLGSAVSYSDRVGPFFTYNNEDF
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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 |
---|---|---|---|---|---|---|---|---|---|---|---|
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 microarray | ASD | 1491 | - | - | - | - | - | 0 | ||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 |
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 |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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