AutismKB 2.0

Evidence Details for CCDC68


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Basic Information Top
Gene Symbol:CCDC68 ( FLJ25368,SE57-1 )
Gene Full Name: coiled-coil domain containing 68
Band: 18q21.2
Quick LinksEntrez ID:80323; OMIM: NA; Uniprot ID:CCD68_HUMAN; ENSEMBL ID: ENSG00000166510; HGNC ID: 24350
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCDC68|80323|nucleotide
ATGACAACAGTGACAGTGACCACAGAAATTCCCCCAAGGGATAAGATGGAAGATAATTCTGCCTTGTATGAGTCTACGTCCGCTCACATTATTGAAGAAACCGAG
TATGTGAAAAAGATTCGAACTACTCTGCAAAAGATCAGGACCCAGATGTTTAAAGATGAAATAAGACATGACAGTACAAATCACAAACTAGATGCAAAGCACTGT
GGAAACCTTCAACAGGGCTCTGATTCTGAAATGGATCCTTCTTGTTGCAGTTTGGATTTGCTTATGAAAAAGATAAAAGGAAAAGACCTACAGCTCTTAGAAATG
AACAAAGAGAATGAAGTATTGAAAATCAAGCTGCAAGCCTCCAGAGAAGCAGGAGCAGCAGCTCTGAGAAACGTGGCCCAGAGATTATTTGAAAACTACCAAACG
CAATCTGAAGAAGTGAGAAAGAAGCAGGAGGACAGTAAACAATTACTCCAGGTTAACAAGCTTGAAAAAGAACAGAAATTGAAACAACATGTTGAAAATCTGAAT
CAAGTTGCTGAAAAACTTGAAGAAAAACACAGTCAAATTACAGAATTGGAGAACCTTGTACAGAGAATGGAAAAGGAAAAGAGAACACTACTAGAAAGAAAACTG
TCTTTGGAAAACAAGCTACTGCAACTCAAATCCAGTGCTACATATGGAAAAAGTTGCCAGGATCTTCAGAGGGAGATTTCCATTCTCCAGGAGCAGATCTCTCAT
CTGCAGTTTGTGATTCACTCCCAACATCAGAACCTGCGCAGTGTCATCCAGGAGATGGAAGGATTAAAAAATAATTTAAAAGAACAAGACAAAAGAATTGAAAAT
CTCAGAGAAAAGGTTAACATACTTGAAGCCCAGAATAAAGAACTAAAAACCCAGGTAGCACTTTCATCTGAAACTCCTAGGACAAAGGTATCTAAGGCTGTCTCT
ACAAGTGAATTGAAGACCGAAGGTGTTTCCCCTTATTTAATGTTGATTAGGTTACGGAAATGA

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>CCDC68|80323|protein
MTTVTVTTEIPPRDKMEDNSALYESTSAHIIEETEYVKKIRTTLQKIRTQMFKDEIRHDSTNHKLDAKHCGNLQQGSDSEMDPSCCSLDLLMKKIKGKDLQLLEM
NKENEVLKIKLQASREAGAAALRNVAQRLFENYQTQSEEVRKKQEDSKQLLQVNKLEKEQKLKQHVENLNQVAEKLEEKHSQITELENLVQRMEKEKRTLLERKL
SLENKLLQLKSSATYGKSCQDLQREISILQEQISHLQFVIHSQHQNLRSVIQEMEGLKNNLKEQDKRIENLREKVNILEAQNKELKTQVALSSETPRTKVSKAVS
TSELKTEGVSPYLMLIRLRK

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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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