AutismKB 2.0

Evidence Details for CCDC154


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Basic Information Top
Gene Symbol:CCDC154 ( - )
Gene Full Name: coiled-coil domain containing 154
Band: 16p13.3
Quick LinksEntrez ID:645811; OMIM: NA; Uniprot ID:G9JV18_HUMAN; ENSEMBL ID: ENSG00000197599; HGNC ID: 34454
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCDC154|645811|nucleotide
ATGTCAGAGTTGGCTGACAGTGGACCCTCAGGGGCATCGGCCCCTTCCCAGCTGAGAGCCGTCACCCTGGAAGACCTGGGGCTCCTCCTGGCAGGAGGCCTGGCC
AGCCCCGAGCCCTTGAGCCTGGAGGAGCTCTCGGAGAGGTATGAGTCCAGCCATCCGACATCCACGGCCTCTGTCCCCGAGCAGGACACCGCCAAGCACTGGAAC
CAGCTGGAGCAGTGGGTGGTGGAGCTGCAGGCCGAGGTGGCCTGCCTGCGGGAGCACAAGCAGCGCTGTGAGCGCGCCACGCGGAGCCTGCTGCGGGAGCTGCTC
CAGGTGCGGGCCCGCGTGCAGCTGCAGGGCTCAGAGCTGAGGCAGTTGCAGCAGGAGGCGCGGCCGGCAGCCCAGGCCCCCGAAAAGGAGGCGCCGGAGTTCTCT
GGTCTCCAGAACCAGATGCAGGCCCTGGACAAAAGGCTGGTGGAGGTCCGGGAAGCCTTGACCCGGCTCAGGAGGAGGCAGGTGCAACAGGAGGCGGAGAGAAGG
GGCGCCGAGCAAGAGGCCGGCCTCAGACTGGCCAAGCTGACCGACTTGCTGCAGCAGGAGGAGCAGGGCCGGGAGGTGGCCTGCGGCGCCCTGCAGAAGAACCAA
GAGGACAGCAGCCGGAGGGTGGACCTGGAGGTGGCCAGAATGCAGGCCCAGGTGACCAAGCTCGGCGAAGAGGTGAGCCTGCGCTTCCTGAAGAGGGAGGCCAAG
CTGTGCGGCTTCCTGCAGAAGAGCTTCCTGGCCCTGGAGAAGAGAATGAAGGCCTCGGAGAGCTCACGGCTGAAGCTGGAGGGCAGCCTGCGGGGCGAGCTGGAG
AGCCGGTGGGAGAAGCTTCGGGGGCTGATGGAGGAGCGCCTGCGGGCCCTGCAGGGGCAGCATGAGGAGAGCCACCTCCTGGAGCAGTGCCAGGGCCTGGATGCT
GCCGTGGCCCAGCTGACCAAGTTTGTGCAGCAGAACCAGGCGTCGCTGAACCGTGTCCTACTGGCCGAGGAGAAAGCCTGGGACGCCAAGGGGCGCTTGGAGGAA
AGCCGGGCTGGGGAGCTGGCCGCCTATGTGCAGGAGAACCTGGAGGCCGCACAGCTGGCTGGCGAGCTGGCCCGGCAGGAGATGCATGGAGAGCTGGTGCTGCTC
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>CCDC154|645811|protein
MSELADSGPSGASAPSQLRAVTLEDLGLLLAGGLASPEPLSLEELSERYESSHPTSTASVPEQDTAKHWNQLEQWVVELQAEVACLREHKQRCERATRSLLRELL
QVRARVQLQGSELRQLQQEARPAAQAPEKEAPEFSGLQNQMQALDKRLVEVREALTRLRRRQVQQEAERRGAEQEAGLRLAKLTDLLQQEEQGREVACGALQKNQ
EDSSRRVDLEVARMQAQVTKLGEEVSLRFLKREAKLCGFLQKSFLALEKRMKASESSRLKLEGSLRGELESRWEKLRGLMEERLRALQGQHEESHLLEQCQGLDA
AVAQLTKFVQQNQASLNRVLLAEEKAWDAKGRLEESRAGELAAYVQENLEAAQLAGELARQEMHGELVLLREKSRALEASVAQLAGQLKELSGHLPALSSRLDLQ
EQMLGLRLSEAKTEWEGAERKSLEDLARWRKEVTEHLRGVREKVDGLPQQIESVSDKCLLHKSDSDLRISAEGKAREFKVGALRQELATLLSSVQLLKEDNPGRK
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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 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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