AutismKB 2.0

Evidence Details for CRTC2


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Basic Information Top
Gene Symbol:CRTC2 ( TORC2 )
Gene Full Name: CREB regulated transcription coactivator 2
Band: 1q21.3
Quick LinksEntrez ID:200186; OMIM: 608972; Uniprot ID:CRTC2_HUMAN; ENSEMBL ID: ENSG00000160741; HGNC ID: 27301
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CRTC2|200186|nucleotide
ATGGCGACGTCGGGGGCGAACGGGCCTGGTTCGGCCACGGCCTCGGCTTCCAATCCGCGCAAATTTAGTGAGAAGATTGCGCTGCAGAAGCAGCGTCAGGCCGAG
GAGACGGCGGCCTTCGAGGAGGTGATGATGGACATCGGCTCCACCCGGTTACAGGCCCAAAAACTGCGACTGGCATACACAAGGAGCTCTCATTATGGTGGGTCT
CTGCCCAATGTTAACCAGATTGGCTCTGGCCTGGCCGAGTTCCAGAGCCCCCTCCACTCACCTTTGGATTCATCTCGGAGCACTCGGCACCATGGGCTGGTGGAA
CGGGTGCAGCGAGATCCTCGAAGAATGGTGTCCCCACTTCGCCGATACACCCGCCACATTGACAGCTCTCCCTATAGTCCTGCCTACTTATCTCCTCCCCCAGAG
TCTAGCTGGCGAAGGACGATGGCCTGGGGCAATTTCCCTGCAGAGAAGGGGCAGTTGTTTCGACTACCATCTGCACTTAACAGGACAAGCTCTGACTCTGCCCTT
CATACAAGTGTGATGAACCCCAGTCCCCAGGATACCTACCCAGGCCCCACACCTCCCAGCATCCTGCCCAGCCGACGTGGGGGTATTCTGGATGGTGAAATGGAC
CCCAAAGTACCTGCTATTGAGGAGAACTTGCTAGATGACAAGCATTTGCTGAAGCCATGGGATGCTAAGAAGCTATCCTCATCCTCTTCCCGACCTCGGTCCTGT
GAAGTCCCTGGAATTAACATCTTTCCATCTCCTGACCAGCCTGCCAATGTGCCTGTCCTCCCACCTGCCATGAACACGGGGGGCTCCCTACCTGACCTCACCAAC
CTGCACTTTCCCCCACCACTGCCCACCCCCCTGGACCCTGAAGAGACAGCCTACCCTAGCCTGAGTGGGGGCAACAGTACCTCCAATTTGACCCACACCATGACT
CACCTGGGCATCAGCAGGGGCATGGGCCTGGGCCCAGGCTATGATGCACCAGGACTTCATTCACCTCTCAGCCACCCATCCCTGCAGTCCTCCCTAAGCAATCCC
AACCTCCAGGCTTCCCTGAGCAGTCCTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACC
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>CRTC2|200186|protein
MATSGANGPGSATASASNPRKFSEKIALQKQRQAEETAAFEEVMMDIGSTRLQAQKLRLAYTRSSHYGGSLPNVNQIGSGLAEFQSPLHSPLDSSRSTRHHGLVE
RVQRDPRRMVSPLRRYTRHIDSSPYSPAYLSPPPESSWRRTMAWGNFPAEKGQLFRLPSALNRTSSDSALHTSVMNPSPQDTYPGPTPPSILPSRRGGILDGEMD
PKVPAIEENLLDDKHLLKPWDAKKLSSSSSRPRSCEVPGINIFPSPDQPANVPVLPPAMNTGGSLPDLTNLHFPPPLPTPLDPEETAYPSLSGGNSTSNLTHTMT
HLGISRGMGLGPGYDAPGLHSPLSHPSLQSSLSNPNLQASLSSPQPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSAPALSSSSSSSSTSSPVLGAPSYPAST
PGASPHHRRVPLSPLSLLAGPADARRSQQQLPKQFSPTMSPTLSSITQGVPLDTSKLSTDQRLPPYPYSSPSLVLPTQPHTPKSLQQPGLPSQSCSVQSSGGQPP
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top