AutismKB 2.0

Evidence Details for CCDC77


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Basic Information Top
Gene Symbol:CCDC77 ( MGC13183 )
Gene Full Name: coiled-coil domain containing 77
Band: 12p13.33
Quick LinksEntrez ID:84318; OMIM: NA; Uniprot ID:CCD77_HUMAN; ENSEMBL ID: ENSG00000120647; HGNC ID: 28203
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCDC77|84318|nucleotide
ATGGCAGATTCACTGGAGTCAACCCCCTTGCCTTCCCCCGAAGATCGTCTGGCCAAACTCCATCCTTCTAAGGAGCTCCTGGAATATTATCAAAAGAAGATGGCT
GAGTGTGAGGCAGAAAATGAGGACTTGCTGAAGAAACTGGAACTCTACAAAGAAGCTTGTGAAGGACAGCATAAACTTGAATGTGATTTGCAGCAGAGGGAGGAA
GAGATTGCTGAATTGCAGAAAGCTCTAAGTGATATGCAGGTCTGCCTCTTCCAGGAACGGGAACATGTTTTACGCCTCTACTCAGAAAATGACCGACTGAGAATC
AGGGAGCTAGAAGACAAGAAAAAGATTCAGAATCTCTTGGCTCTTGTGGGAACAGATGCTGGAGAAGTGACCTATTTTTGTAAGGAGCCTCCTCACAAAGTCACC
ATTCTCCAAAAGACTATCCAGGCTGTAGGTGAATGTGAGCAGAGTGAATCTTCAGCTTTCAAAGCAGATCCTAAAATAAGCAAAAGAAGACCATCGAGAGAGAGA
AAAGAAAGTTCTGAGCATTACCAAAGAGACATACAGACACTCATCCTACAGGTGGAAGCACTGCAGGCTCAGCTGGGAGAGCAGACCAAACTTTCTCGAGAACAA
ATTGAAGGGCTCATCGAGGACAGACGGATTCACCTTGAGGAAATACAAGTTCAGCACCAGAGAAATCAGAACAAAATCAAAGAGCTAACCAAAAATCTTCACCAC
ACCCAAGAACTGCTCTATGAGAGCACCAAAGATTTTCTGCAACTCAGATCTGAAAACCAAAATAAAGAGAAGTCATGGATGCTTGAAAAAGATAATTTGATGTCA
AAGATTAAGCAATATAGGGTGCAGTGTAAGAAGAAAGAAGATAAAATTGGAAAAGTGTTGCCCGTTATGCATGAGAGTCACCATGCTCAAAGTGAATATATTAAG
TCCCTAAAAGATAAGTTAGTACAAGAGAAAAAGCTGTCCAATATGTACCAAGAGCAGTGCATTTCCTTAGAAGAAGAACTTGCCCGAATTCGTGAGGAAGAGGGA
ATGAGGAGAGAGATCTTCAAGGATCGCACTAACAAGATGGGGAAGCGTTTACAGATAATGACAAAACGCTATGAGGCATTGGAGCGTCGACGTATCCTGGAAGTA
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>CCDC77|84318|protein
MADSLESTPLPSPEDRLAKLHPSKELLEYYQKKMAECEAENEDLLKKLELYKEACEGQHKLECDLQQREEEIAELQKALSDMQVCLFQEREHVLRLYSENDRLRI
RELEDKKKIQNLLALVGTDAGEVTYFCKEPPHKVTILQKTIQAVGECEQSESSAFKADPKISKRRPSRERKESSEHYQRDIQTLILQVEALQAQLGEQTKLSREQ
IEGLIEDRRIHLEEIQVQHQRNQNKIKELTKNLHHTQELLYESTKDFLQLRSENQNKEKSWMLEKDNLMSKIKQYRVQCKKKEDKIGKVLPVMHESHHAQSEYIK
SLKDKLVQEKKLSNMYQEQCISLEEELARIREEEGMRREIFKDRTNKMGKRLQIMTKRYEALERRRILEVEGFKTDIKVLRQKLKDLEQMLYKATVNARANQDLA
LLCEVRDSNRRAHKIQGELKNLKSKVFGLENELRLC
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Silva IM, 2014 - aCGH;FISHASD - - - - 1 - 1
Linkage Studies Top