AutismKB 2.0

Evidence Details for C6orf204


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Basic Information Top
Gene Symbol:C6orf204 ( MGC131785,NY-BR-15,bA57K17.2 )
Gene Full Name: chromosome 6 open reading frame 204
Band: 6q22
Quick LinksEntrez ID:387119; OMIM: NA; Uniprot ID:CF204_HUMAN; ENSEMBL ID: ENSG00000111860; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C6orf204|387119|nucleotide
ATGTGGGGGCGCTTCCTGGCTCCGGAGGCCAGCGGCCGGGATAGCCCCGGCGGAGCCCGCAGCTTCCCTGCCGGCCCAGATTATTCATCAGCATGGCTACCTGCT
AATGAATCATTGTGGCAGGCCACAACTGTTCCATCTAACCATCGAAATAACCATATCAGGAGACACAGTATAGCTTCTGACAGTGGAGACACTGGCATTGGAACT
TCCTGTTCTGATAGCGTGGAAGATCATTCAACTTCAAGTGGCACATTATCTTTTAAGCCTAGTCAATCATTGATTACTCTTCCTACTGCCCATGTGATGCCGTCT
AATTCCAGCGCTTCAATTTCCAAACTTAGGGAATCATTGACACCAGATGGCTCAAAATGGAGTACAAGCCTCATGCAAACATTGGGAAACCACAGTAGGGGGGAG
CAGGACTCTTCCCTAGACATGAAGGACTTCCGGCCACTTCGGAAATGGTCATCTTTATCCAAACTCACTGCCCCGGATAACTGTGGCCAGGGTGGCACTGTATGC
AGAGAAGAGTCAAGGAATGGTTTGGAGAAGATAGGGAAGGCTAAGGCTTTAACATCACAACTGAGGACAATTGGGCCTAGCTGTTTACATGATAGTATGGAGATG
CTTAGGTTAGAGGACAAGGAAATAAATAAAAAACGGTCATCAACTCTGGACTGCAAGTATAAATTTGAGAGCTGTAGCAAGGAGGACTTTAGAGCCTCTTCCTCT
ACTCTTAGGAGACAGCCTGTAGACATGACATATAGTGCCTTACCTGAAAGCAAGCCCATTATGACAAGCTCAGAGGCTTTTGAACCTCCAAAATATTTAATGCTT
GGTCAACAGGCAGTAGGTGGAGTTCCCATTCAGCCTTCCGTAAGGACTCAGATGTGGCTTACAGAGCAGCTGCGGACAAATCCTTTGGAAGGTAGAAATACAGAG
GATTCTTACAGTTTAGCTCCTTGGCAACAGCAGCAAATTGAAGACTTTCGACAAGGAAGTGAAACACCAATGCAGGTTTTGACTGGATCATCTCGTCAAAGTTAT
TCACCTGGCTATCAGGATTTCAGTAAGTGGGAATCAATGTTGAAAATAAAAGAAGGACTTCTAAGGCAGAAAGAAATTGTAATCGATCGGCAGAAGCAACAAATT
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>C6orf204|387119|protein
MWGRFLAPEASGRDSPGGARSFPAGPDYSSAWLPANESLWQATTVPSNHRNNHIRRHSIASDSGDTGIGTSCSDSVEDHSTSSGTLSFKPSQSLITLPTAHVMPS
NSSASISKLRESLTPDGSKWSTSLMQTLGNHSRGEQDSSLDMKDFRPLRKWSSLSKLTAPDNCGQGGTVCREESRNGLEKIGKAKALTSQLRTIGPSCLHDSMEM
LRLEDKEINKKRSSTLDCKYKFESCSKEDFRASSSTLRRQPVDMTYSALPESKPIMTSSEAFEPPKYLMLGQQAVGGVPIQPSVRTQMWLTEQLRTNPLEGRNTE
DSYSLAPWQQQQIEDFRQGSETPMQVLTGSSRQSYSPGYQDFSKWESMLKIKEGLLRQKEIVIDRQKQQITHLHERIRDNELRAQHAMLGHYVNCEDSYVASLQP
QYENTSLQTPFSEESVSHSQQGEFEQKLASTEKEVLQLNEFLKQRLSLFSEEKKKLEEKLKTRDRYISSLKKKCQKESEQNKEKQRRIETLEKYLADLPTLDDVQ
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top