AutismKB 2.0

Evidence Details for CNBD1


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Basic Information Top
Gene Symbol:CNBD1 ( FLJ35802 )
Gene Full Name: cyclic nucleotide binding domain containing 1
Band: 8q21.3
Quick LinksEntrez ID:168975; OMIM: NA; Uniprot ID:CNBD1_HUMAN; ENSEMBL ID: ENSG00000176571; HGNC ID: 26663
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CNBD1|168975|nucleotide
ATGCCGATGTCTTCTCTTCCAGCAGCTATTTTGTCTCACATGACAGCTATTAACAATGTGCCTCCTCCTCCACTTCACAGTATACCAAACTTGAAAAAGTCTAAG
CACATTAATTATGGCCAGTTGAATGCATTATGCCACATTAGAGGACAACACAGCCGGAGTATGAGCAATATCTTATCAGCTCACGATACATTTATGAAGCAATAT
CCTAAAGTATTCCTGCACCAAAAACCCAGACTTCCTAAACTTTTCAAACAGGAGGAACAAAGGGAACTCAATGAAGGCAAAGAGGAAAGTCAACATCAACAACCT
GATGATTCTAACAATATAGCTGTCCATGTTCAGAGAGCACATGGTGGCCATATTTTATATAGACCAAAAAGAGCCACAGAGAAATTTGAAGAATTCCTAGCTATC
TTAAAGAAATTGCCCATTCACAGGACGCCATATGAACACAAAACTGTGTGGAAGTTCCTGAAAACAATTCCAGATTTAACCTTTCAGCTAAATGATAAGCATCTG
AAAACACTTAGTAAGACTGTCTTTTCCGAAACCTGGTTGAAAGGCAGCACAGTGGTTGCAAATGATGGATTTTATGTAATACTGAAAGGCCTAGCTCGACCTCAA
ACAAACGTGTATAAAAATCTGATTGAAGGAAGTGATTCACCAGACTCGTTCATATCTCAGAGTTTCCACAGCTTCATTTGGAGTGAAGAATTCAAAAACTCTACA
CTTGCTGAGATGTACCTACCTTCATATGACTCAATGCTTAGCAAATGGAGTACCTTTGGGACTCTGGAAGTTATGCCTCAGAATGAATCGGAAACACAGATGTTC
TCGGTGGTGACAGAAGACGATTGTGAAATTCTTAAAATCCCAGCAAAGGGATATGCAAAGATAAAGGAGGAAAAAATAAAACTTGAAAATATGCAAAAGTTGAAA
TTAATCCGTATGTGTCCTTATTATGAGGAATGGCCTACTTTATCCATATATGAGCTAATTGCACTCCTTAAATGGAAAAAATTTCCTCCAGGTCATGTGATAGTG
GAAAGTGGAAATATAATTTCTTTTGTGGGTTATATTAACTCTGGATGCTGTAACATTTATAGAAGTATTATAGGATTTGTGAAACTACGATCAAATAAAGTGAAA
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>CNBD1|168975|protein
MPMSSLPAAILSHMTAINNVPPPPLHSIPNLKKSKHINYGQLNALCHIRGQHSRSMSNILSAHDTFMKQYPKVFLHQKPRLPKLFKQEEQRELNEGKEESQHQQP
DDSNNIAVHVQRAHGGHILYRPKRATEKFEEFLAILKKLPIHRTPYEHKTVWKFLKTIPDLTFQLNDKHLKTLSKTVFSETWLKGSTVVANDGFYVILKGLARPQ
TNVYKNLIEGSDSPDSFISQSFHSFIWSEEFKNSTLAEMYLPSYDSMLSKWSTFGTLEVMPQNESETQMFSVVTEDDCEILKIPAKGYAKIKEEKIKLENMQKLK
LIRMCPYYEEWPTLSIYELIALLKWKKFPPGHVIVESGNIISFVGYINSGCCNIYRSIIGFVKLRSNKVKRSQKLVYMGKLKEKESFGEISVLLQVPFTCTIITK
KEVEMAIIEDKDLFVA
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
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
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
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