AutismKB 2.0

Evidence Details for CD163


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CD163 ( M130,MM130 )
Gene Full Name: CD163 molecule
Band: 12p13.31
Quick LinksEntrez ID:9332; OMIM: 605545; Uniprot ID:C163A_HUMAN; ENSEMBL ID: ENSG00000177575; HGNC ID: 1631
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CD163|9332|nucleotide
ATGAGCAAACTCAGAATGGTGCTACTTGAAGACTCTGGATCTGCTGACTTCAGAAGACATTTTGTCAACTTGAGTCCCTTCACCATTACTGTGGTCTTACTTCTC
AGTGCCTGTTTTGTCACCAGTTCTCTTGGAGGAACAGACAAGGAGCTGAGGCTAGTGGATGGTGAAAACAAGTGTAGCGGGAGAGTGGAAGTGAAAGTCCAGGAG
GAGTGGGGAACGGTGTGTAATAATGGCTGGAGCATGGAAGCGGTCTCTGTGATTTGTAACCAGCTGGGATGTCCAACTGCTATCAAAGCCCCTGGATGGGCTAAT
TCCAGTGCAGGTTCTGGACGCATTTGGATGGATCATGTTTCTTGTCGTGGGAATGAGTCAGCTCTTTGGGATTGCAAACATGATGGATGGGGAAAGCATAGTAAC
TGTACTCACCAACAAGATGCTGGAGTGACCTGCTCAGATGGATCCAATTTGGAAATGAGGCTGACGCGTGGAGGGAATATGTGTTCTGGAAGAATAGAGATCAAA
TTCCAAGGACGGTGGGGAACAGTGTGTGATGATAACTTCAACATAGATCATGCATCTGTCATTTGTAGACAACTTGAATGTGGAAGTGCTGTCAGTTTCTCTGGT
TCATCTAATTTTGGAGAAGGCTCTGGACCAATCTGGTTTGATGATCTTATATGCAACGGAAATGAGTCAGCTCTCTGGAACTGCAAACATCAAGGATGGGGAAAG
CATAACTGTGATCATGCTGAGGATGCTGGAGTGATTTGCTCAAAGGGAGCAGATCTGAGCCTGAGACTGGTAGATGGAGTCACTGAATGTTCAGGAAGATTAGAA
GTGAGATTCCAAGGAGAATGGGGGACAATATGTGATGACGGCTGGGACAGTTACGATGCTGCTGTGGCATGCAAGCAACTGGGATGTCCAACTGCCGTCACAGCC
ATTGGTCGAGTTAACGCCAGTAAGGGATTTGGACACATCTGGCTTGACAGCGTTTCTTGCCAGGGACATGAACCTGCTGTCTGGCAATGTAAACACCATGAATGG
GGAAAGCATTATTGCAATCACAATGAAGATGCTGGCGTGACATGTTCTGATGGATCAGATCTGGAGCTAAGACTTAGAGGTGGAGGCAGCCGCTGTGCTGGGACA
Show »

>CD163|9332|protein
MSKLRMVLLEDSGSADFRRHFVNLSPFTITVVLLLSACFVTSSLGGTDKELRLVDGENKCSGRVEVKVQEEWGTVCNNGWSMEAVSVICNQLGCPTAIKAPGWAN
SSAGSGRIWMDHVSCRGNESALWDCKHDGWGKHSNCTHQQDAGVTCSDGSNLEMRLTRGGNMCSGRIEIKFQGRWGTVCDDNFNIDHASVICRQLECGSAVSFSG
SSNFGEGSGPIWFDDLICNGNESALWNCKHQGWGKHNCDHAEDAGVICSKGADLSLRLVDGVTECSGRLEVRFQGEWGTICDDGWDSYDAAVACKQLGCPTAVTA
IGRVNASKGFGHIWLDSVSCQGHEPAVWQCKHHEWGKHYCNHNEDAGVTCSDGSDLELRLRGGGSRCAGTVEVEIQRLLGKVCDRGWGLKEADVVCRQLGCGSAL
KTSYQVYSKIQATNTWLFLSSCNGNETSLWDCKNWQWGGLTCDHYEEAKITCSAHREPRLVGGDIPCSGRVEVKHGDTWGSICDSDFSLEAASVLCRELQCGTVV
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
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
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
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