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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018