AutismKB 2.0

Evidence Details for CCDC73


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Basic Information Top
Gene Symbol:CCDC73 ( NY-SAR-79 )
Gene Full Name: coiled-coil domain containing 73
Band: 11p13
Quick LinksEntrez ID:493860; OMIM: 612328; Uniprot ID:CCD73_HUMAN; ENSEMBL ID: ENSG00000186714; HGNC ID: 23261
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCDC73|493860|nucleotide
ATGGAAAGCAACTTCAATACTGAGTCATCATCTACTTTTACTCTTCAAAGTTCTTCAGAGACATTGTTTTCTATTCAGCTATTAGATTTCAAAACAAGTTTACTG
GAGGCATTAGAAGAATTGCGTATGAGAAGGGAAGCAGAAATTCATTATGAAGAGCAGATTGGTAAAATTATTGTGGAGACACAGGAACTTAAATGGCAAAAGGAA
ACTCTTCAGAATCAAAAGGAAACATTGGCAGAGCAACACAAGGAAGCAATGGCAGTTTTTAAAAAGCAGTTGCAGATGAAGATGTGTGCCCTGGAAGAAGAAAAG
GGAAAATATCAACTTGCTACAGAAATAAAGGAAAAAGAAATAGAAGGATTGAAGGAAACATTAAAAGCACTACAGGTTTCTAAATACTCTTTACAGAAGAAAGTG
AGTGAAATGGAACAAAAGGTCCAGTTACATCTTCTGGCTAAAGAAGACTATCATAAGCAACTGAGTGAAATTGAGAAATATTATGCCACAATAACAGGTCAATTT
GGATTGGTAAAAGAGAATCATGAAAAGTTAGAACAAAATGTACGGGAAGCAATACAATCAAACAAAAGACTTTCAGCTTTAAATAAAAAACAAGAAGCTGAAATA
TGCAGTTTAAAGAAGGAACTAAAAAAAGCAGCCTCAGACTTGATAAAGTCCAAAGTCACATGTCAATATAAGATGGGAGAAGAAAACATCAATCTAACAATTAAA
GAACAAAAATTTCAAGAACTTCAAGAAAGACTCAACATGGAATTGGAATTAAATGAGAAGATTAATGAAGAGATTACCCATATTCAAGAAGAAAAACAGGATATC
ATCATTTCTTTCCAACATATGCAGCAGTTACTTCGGCAACAAATTCAAGCTAATACTGAAATGGAGGCAGAATTGAAGGTGCTAAAAGAAAATAATCAGACCCTT
GAAAGAGATAATGAGCTGCAAAGGGAGAAGGTAAAAGAAAATGAAGAAAAGTTTCTTAATCTTCAAAATGAGCATGAAAAAGCACTAGGAACTTGGAAAAGACAT
GCTGAAGAACTTAATGGAGAAATTAATAAGATTAAAAATGAATTATCATCCCTTAAAGAAACTCATATTAAGTTACAAGAACATTATAACAAATTATGCAATCAA
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>CCDC73|493860|protein
MESNFNTESSSTFTLQSSSETLFSIQLLDFKTSLLEALEELRMRREAEIHYEEQIGKIIVETQELKWQKETLQNQKETLAEQHKEAMAVFKKQLQMKMCALEEEK
GKYQLATEIKEKEIEGLKETLKALQVSKYSLQKKVSEMEQKVQLHLLAKEDYHKQLSEIEKYYATITGQFGLVKENHEKLEQNVREAIQSNKRLSALNKKQEAEI
CSLKKELKKAASDLIKSKVTCQYKMGEENINLTIKEQKFQELQERLNMELELNEKINEEITHIQEEKQDIIISFQHMQQLLRQQIQANTEMEAELKVLKENNQTL
ERDNELQREKVKENEEKFLNLQNEHEKALGTWKRHAEELNGEINKIKNELSSLKETHIKLQEHYNKLCNQKTFEEDKKFQNVPEVNNENSEMSTEKSENTIIQKY
NTEQEIREENMENFCSDTEYREKEEKKEGSFIEEIIIDDLQLFEKSFKNEIDTVVSQDENQSEISLSKTLSLDKEVISQGQTSNVTDNRKSVTTEIKDKICLEKD
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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 (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
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top