AutismKB 2.0

Evidence Details for CNNM2


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Basic Information Top
Gene Symbol:CNNM2 ( ACDP2 )
Gene Full Name: cyclin M2
Band: 10q24.32
Quick LinksEntrez ID:54805; OMIM: 607803; Uniprot ID:CNNM2_HUMAN; ENSEMBL ID: ENSG00000148842; HGNC ID: 103
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CNNM2|54805|nucleotide
ATGATTGGCTGTGGCGCTTGTGAACCCAAAGTAAAGATGGCGGGCGGGCAGGCAGCCGCCGCACTGCCCACTTGGAAGATGGCGGCGCGCCGCAGCCTCAGCGCT
CGCGGCCGGGGGATCCTGCAGGCGGCTGCGGGGCGGCTGCTGCCGCTGCTCCTGCTGAGCTGCTGCTGCGGTGCGGGCGGCTGCGCAGCGGTGGGCGAGAATGAG
GAGACGGTGATCATCGGGCTGCGACTGGAGGACACGAACGACGTGTCGTTCATGGAAGGGGGGGCGCTGCGGGTGAGCGAACGGACCCGGGTCAAGCTGCGGGTG
TACGGGCAGAACATCAATAACGAGACGTGGTCCCGCATCGCCTTCACCGAGCACGAGCGGCGGCGCCACAGCCCGGGGGAGCGCGGGCTGGGGGGCCCCGCGCCG
CCAGAGCCGGACAGCGGCCCCCAGCGATGCGGCATCCGCACCTCAGACATCATCATCTTGCCCCACATCATTCTCAACCGCCGCACCTCGGGCATCATCGAGATC
GAGATCAAACCGCTACGCAAGATGGAGAAGAGCAAGTCCTATTACCTGTGCACGTCGCTCTCCACGCCCGCCCTGGGCGCCGGCGGCTCGGGGTCCACGGGTGGC
GCCGTCGGGGGCAAGGGTGGCTCGGGGGTGGCCGGGCTCCCGCCGCCCCCGTGGGCCGAGACCACCTGGATTTACCACGACGGCGAGGACACCAAGATGATCGTA
GGCGAAGAGAAGAAGTTCCTGCTGCCCTTCTGGCTGCAGGTGATCTTCATTTCGCTGCTGCTGTGCCTGTCGGGCATGTTCAGCGGCCTCAACCTGGGGCTCATG
GCCCTGGACCCGATGGAGCTGCGCATCGTGCAGAACTGCGGCACGGAGAAGGAGAAGAATTACGCCAAGCGCATCGAGCCGGTGCGCAGGCAGGGCAACTACCTG
CTGTGCTCACTGCTGCTGGGCAACGTGCTGGTCAACACCACGCTCACCATCCTGCTCGACGACATCGCCGGCTCGGGCCTCGTGGCCGTGGTAGTCTCCACCATC
GGTATCGTCATCTTCGGAGAGATCGTGCCCCAGGCCATCTGCTCCCGGCATGGCCTGGCTGTGGGGGCCAACACCATCTTCCTCACCAAGTTTTTCATGATGATG
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>CNNM2|54805|protein
MIGCGACEPKVKMAGGQAAAALPTWKMAARRSLSARGRGILQAAAGRLLPLLLLSCCCGAGGCAAVGENEETVIIGLRLEDTNDVSFMEGGALRVSERTRVKLRV
YGQNINNETWSRIAFTEHERRRHSPGERGLGGPAPPEPDSGPQRCGIRTSDIIILPHIILNRRTSGIIEIEIKPLRKMEKSKSYYLCTSLSTPALGAGGSGSTGG
AVGGKGGSGVAGLPPPPWAETTWIYHDGEDTKMIVGEEKKFLLPFWLQVIFISLLLCLSGMFSGLNLGLMALDPMELRIVQNCGTEKEKNYAKRIEPVRRQGNYL
LCSLLLGNVLVNTTLTILLDDIAGSGLVAVVVSTIGIVIFGEIVPQAICSRHGLAVGANTIFLTKFFMMMTFPASYPVSKLLDCVLGQEIGTVYNREKLLEMLRV
TDPYNDLVKEELNIIQGALELRTKTVEDVMTPLRDCFMITGEAILDFNTMSEIMESGYTRIPVFEGERSNIVDLLFVKDLAFVDPDDCTPLKTITKFYNHPLHFV
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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