AutismKB 2.0

Evidence Details for CD109


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Basic Information Top
Gene Symbol:CD109 ( CPAMD7,DKFZp762L1111,FLJ38569,FLJ41966,RP11-525G3.1 )
Gene Full Name: CD109 molecule
Band: 6q13
Quick LinksEntrez ID:135228; OMIM: 608859; Uniprot ID:CD109_HUMAN; ENSEMBL ID: ENSG00000156535; HGNC ID: 21685
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CD109|135228|nucleotide
ATGCAGGGCCCACCGCTCCTGACCGCCGCCCACCTCCTCTGCGTGTGCACCGCCGCGCTGGCCGTGGCTCCCGGGCCTCGGTTTCTGGTGACAGCCCCAGGGATC
ATCAGGCCCGGAGGAAATGTGACTATTGGGGTGGAGCTTCTGGAACACTGCCCTTCACAGGTGACTGTGAAGGCGGAGCTGCTCAAGACAGCATCAAACCTCACT
GTCTCTGTCCTGGAAGCAGAAGGAGTCTTTGAAAAAGGCTCTTTTAAGACACTTACTCTTCCATCACTACCTCTGAACAGTGCAGATGAGATTTATGAGCTACGT
GTAACCGGACGTACCCAGGATGAGATTTTATTCTCTAATAGTACCCGCTTATCATTTGAGACCAAGAGAATATCTGTCTTCATTCAAACAGACAAGGCCTTATAC
AAGCCAAAGCAAGAAGTGAAGTTTCGCATTGTTACACTCTTCTCAGATTTTAAGCCTTACAAAACCTCTTTAAACATTCTCATTAAGGACCCCAAATCAAATTTG
ATCCAACAGTGGTTGTCACAACAAAGTGATCTTGGAGTCATTTCCAAAACTTTTCAGCTATCTTCCCATCCAATACTTGGTGACTGGTCTATTCAAGTTCAAGTG
AATGACCAGACATACTATCAATCATTTCAGGTTTCAGAATATGTATTACCAAAATTTGAAGTGACTTTGCAGACACCATTATATTGTTCTATGAATTCTAAGCAT
TTAAATGGTACCATCACGGCAAAGTATACATATGGGAAGCCAGTGAAAGGAGACGTAACGCTTACATTTTTACCTTTATCCTTTTGGGGAAAGAAGAAAAATATT
ACAAAAACATTTAAGATAAATGGATCTGCAAACTTCTCTTTTAATGATGAAGAGATGAAAAATGTAATGGATTCTTCAAATGGACTTTCTGAATACCTGGATCTA
TCTTCCCCTGGACCAGTAGAAATTTTAACCACAGTGACAGAATCAGTTACAGGTATTTCAAGAAATGTAAGCACTAATGTGTTCTTCAAGCAACATGATTACATC
ATTGAGTTTTTTGATTATACTACTGTCTTGAAGCCATCTCTCAACTTCACAGCCACTGTGAAGGTAACTCGTGCTGATGGCAACCAACTGACTCTTGAAGAAAGA
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>CD109|135228|protein
MQGPPLLTAAHLLCVCTAALAVAPGPRFLVTAPGIIRPGGNVTIGVELLEHCPSQVTVKAELLKTASNLTVSVLEAEGVFEKGSFKTLTLPSLPLNSADEIYELR
VTGRTQDEILFSNSTRLSFETKRISVFIQTDKALYKPKQEVKFRIVTLFSDFKPYKTSLNILIKDPKSNLIQQWLSQQSDLGVISKTFQLSSHPILGDWSIQVQV
NDQTYYQSFQVSEYVLPKFEVTLQTPLYCSMNSKHLNGTITAKYTYGKPVKGDVTLTFLPLSFWGKKKNITKTFKINGSANFSFNDEEMKNVMDSSNGLSEYLDL
SSPGPVEILTTVTESVTGISRNVSTNVFFKQHDYIIEFFDYTTVLKPSLNFTATVKVTRADGNQLTLEERRNNVVITVTQRNYTEYWSGSNSGNQKMEAVQKINY
TVPQSGTFKIEFPILEDSSELQLKAYFLGSKSSMAVHSLFKSPSKTYIQLKTRDENIKVGSPFELVVSGNKRLKELSYMVVSRGQLVAVGKQNSTMFSLTPENSW
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
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
Dong S, 2014 787 787 42 De novo insertions and deletions of predominantly paternal origin are associated with autism spectru
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