AutismKB 2.0

Evidence Details for CNR1


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Basic Information Top
Gene Symbol:CNR1 ( CANN6,CB-R,CB1,CB1A,CB1K5,CB1R,CNR )
Gene Full Name: cannabinoid receptor 1 (brain)
Band: 6q15
Quick LinksEntrez ID:1268; OMIM: 114610; Uniprot ID:CNR1_HUMAN; ENSEMBL ID: ENSG00000118432; HGNC ID: 2159
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CNR1|1268|nucleotide
ATGAAGTCGATCCTAGATGGCCTTGCAGATACCACCTTCCGCACCATCACCACTGACCTCCTGTACGTGGGCTCAAATGACATTCAGTACGAAGACATCAAAGGT
GACATGGCATCCAAATTAGGGTACTTCCCACAGAAATTCCCTTTAACTTCCTTTAGGGGAAGTCCCTTCCAAGAGAAGATGACTGCGGGAGACAACCCCCAGCTA
GTCCCAGCAGACCAGGTGAACATTACAGAATTTTACAACAAGTCTCTCTCGTCCTTCAAGGAGAATGAGGAGAACATCCAGTGTGGGGAGAACTTCATGGACATA
GAGTGTTTCATGGTCCTGAACCCCAGCCAGCAGCTGGCCATTGCAGTCCTGTCCCTCACGCTGGGCACCTTCACGGTCCTGGAGAACCTCCTGGTGCTGTGCGTC
ATCCTCCACTCCCGCAGCCTCCGCTGCAGGCCTTCCTACCACTTCATCGGCAGCCTGGCGGTGGCAGACCTCCTGGGGAGTGTCATTTTTGTCTACAGCTTCATT
GACTTCCACGTGTTCCACCGCAAAGATAGCCGCAACGTGTTTCTGTTCAAACTGGGTGGGGTCACGGCCTCCTTCACTGCCTCCGTGGGCAGCCTGTTCCTCACA
GCCATCGACAGGTACATATCCATTCACAGGCCCCTGGCCTATAAGAGGATTGTCACCAGGCCCAAGGCCGTGGTGGCGTTTTGCCTGATGTGGACCATAGCCATT
GTGATCGCCGTGCTGCCTCTCCTGGGCTGGAACTGCGAGAAACTGCAATCTGTTTGCTCAGACATTTTCCCACACATTGATGAAACCTACCTGATGTTCTGGATC
GGGGTCACCAGCGTACTGCTTCTGTTCATCGTGTATGCGTACATGTATATTCTCTGGAAGGCTCACAGCCACGCCGTCCGCATGATTCAGCGTGGCACCCAGAAG
AGCATCATCATCCACACGTCTGAGGATGGGAAGGTACAGGTGACCCGGCCAGACCAAGCCCGCATGGACATTAGGTTAGCCAAGACCCTGGTCCTGATCCTGGTG
GTGTTGATCATCTGCTGGGGCCCTCTGCTTGCAATCATGGTGTATGATGTCTTTGGGAAGATGAACAAGCTCATTAAGACGGTGTTTGCATTCTGCAGTATGCTC
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>CNR1|1268|protein
MKSILDGLADTTFRTITTDLLYVGSNDIQYEDIKGDMASKLGYFPQKFPLTSFRGSPFQEKMTAGDNPQLVPADQVNITEFYNKSLSSFKENEENIQCGENFMDI
ECFMVLNPSQQLAIAVLSLTLGTFTVLENLLVLCVILHSRSLRCRPSYHFIGSLAVADLLGSVIFVYSFIDFHVFHRKDSRNVFLFKLGGVTASFTASVGSLFLT
AIDRYISIHRPLAYKRIVTRPKAVVAFCLMWTIAIVIAVLPLLGWNCEKLQSVCSDIFPHIDETYLMFWIGVTSVLLLFIVYAYMYILWKAHSHAVRMIQRGTQK
SIIIHTSEDGKVQVTRPDQARMDIRLAKTLVLILVVLIICWGPLLAIMVYDVFGKMNKLIKTVFAFCSMLCLLNSTVNPIIYALRSKDLRHAFRSMFPSCEGTAQ
PLDNSMGDSDCLHKHANNAASVHRAAESCIKSTVKIAKVTMSVSTDTSAEAL
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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 (1) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Ma, 2007 USA SNP-based genomic screenautism 26 - 26 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Purcell, 2001_1 America cerebellum 4
(-)
-autism 4
(-)
-1.4 Down -
  • Platform: Atlas Human Neurobiology array (Clontech Laboratories, Palo Alto, CA)
  • ProbeSet: -
  • RefSeq_ID/ EST: X81120
  • GEO_ID: -
  • Statistic Method: ratio of autism/control
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
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