AutismKB 2.0

Evidence Details for CCDC38


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Basic Information Top
Gene Symbol:CCDC38 ( FLJ40089 )
Gene Full Name: coiled-coil domain containing 38
Band: 12q23.1
Quick LinksEntrez ID:120935; OMIM: NA; Uniprot ID:CCD38_HUMAN; ENSEMBL ID: ENSG00000165972; HGNC ID: 26843
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCDC38|120935|nucleotide
ATGTCCTCAAATTTATTGCCAACACTGAATTCTGGAGGTAAAGTAAAAGATGGCTCAACCAAAGAGGACAGGCCTTATAAGATCTTTTTCAGAGATCTCTTTCTT
GTCAAAGAAAATGAAATGGCAGCAAAGGAAACGGAAAAATTTATGAACCGTAACATGAAAGTCTACCAGAAAACTACTTTTTCATCCAGAATGAAGAGTCATTCA
TACCTGAGCCAACTAGCTTTCTACCCTAAAAGGAGTGGTAGGTCATTTGAAAAGTTTGGGCCAGGTCCTGCTCCGATTCCTAGATTAATAGAAGGTTCCGACACA
AAAAGGACTGTCCATGAATTTATTAATGACCAGAGAGACAGGTTTCTGCTCGAGTATGCTTTGTCAACCAAAAGAAACACAATCAAAAAGTTTGAAAAAGACATA
GCAATGAGGGAACGGCAACTAAAAAAAGCAGAGAAAAAGCTCCAAGATGATGCACTGGCCTTTGAAGAGTTCCTTCGAGAAAATGACCAGAGATCTGTAGACGCT
CTGAAAATGGCAGCACAGGAAACAATAAACAAACTCCAAATGACAGCAGAGCTGAAGAAAGCAAGCATGGAGGTACAAGCAGTGAAAAGTGAAATAGCAAAAACA
GAATTCCTCCTCAGGGAGTATATGAAATATGGTTTTTTTCTGCTGCAAATGTCTCCAAAACATTGGCAAATCCAGCAAGCACTAAAAAGAGCACAGGCATCAAAA
AGTAAAGCAAATATCATCCTTCCAAAAATATTAGCAAAATTATCATTACATTCAAGTAACAAGGAAGGCATCCTTGAGGAGTCCGGGAGGACAGCTGTCCTTTCA
GAAGATGCTTCTCAGGGAAGAGACAGCCAAGGAAAGCCAAGCAGAAGCCTGACTCGCACTCCAGAGAAAAAGAAATCAAACCTGGCTGAAAGTTTCGGTTCAGAA
GACAGTTTGGAATTCCTTTTAGATGATGAAATGGACGTTGATTTGGAGCCAGCACTTTATTTCAAGGAACCAGAGGAGTTACTTCAAGTCCTCAGAGAGCTGGAA
GAGCAGAATCTTACTTTGTTTCAATATTCCCAAGATGTAGATGAAAATCTTGAAGAGGTAAACAAAAGAGAAAAAGTTATACAGGATAAAACAAATAGCAACATA
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>CCDC38|120935|protein
MSSNLLPTLNSGGKVKDGSTKEDRPYKIFFRDLFLVKENEMAAKETEKFMNRNMKVYQKTTFSSRMKSHSYLSQLAFYPKRSGRSFEKFGPGPAPIPRLIEGSDT
KRTVHEFINDQRDRFLLEYALSTKRNTIKKFEKDIAMRERQLKKAEKKLQDDALAFEEFLRENDQRSVDALKMAAQETINKLQMTAELKKASMEVQAVKSEIAKT
EFLLREYMKYGFFLLQMSPKHWQIQQALKRAQASKSKANIILPKILAKLSLHSSNKEGILEESGRTAVLSEDASQGRDSQGKPSRSLTRTPEKKKSNLAESFGSE
DSLEFLLDDEMDVDLEPALYFKEPEELLQVLRELEEQNLTLFQYSQDVDENLEEVNKREKVIQDKTNSNIEFLLEQEKMLKANCVREEEKAAELQLKSKLFSFGE
FNSDAQEILIDSLSKKITQVYKVCIGDAEDDGLNPIQKLVKVESRLVELCDLIESIPKENVEAIERMKQKEWRQKFRDEKMKEKQRHQQERLKAALEKAVAQPKK
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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 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 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
Linkage Studies Top