AutismKB 2.0

Evidence Details for SIGLEC5


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Basic Information Top
Gene Symbol:SIGLEC5 ( CD170,CD33L2,OB-BP2,OBBP2,SIGLEC-5 )
Gene Full Name: sialic acid binding Ig-like lectin 5
Band: 19q13.41
Quick LinksEntrez ID:8778; OMIM: 604200; Uniprot ID:SIGL5_HUMAN; ENSEMBL ID: ENSG00000105501; HGNC ID: 10874
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SIGLEC5|8778|nucleotide
ATGCTGCCCCTGCTGCTGCTGCCCCTGCTGTGGGGGGGGTCCCTGCAGGAGAAGCCAGTGTACGAGCTGCAAGTGCAGAAGTCGGTGACGGTGCAGGAGGGCCTG
TGCGTCCTTGTGCCCTGCTCCTTCTCTTACCCCTGGAGATCCTGGTATTCCTCTCCCCCACTCTACGTCTACTGGTTCCGGGACGGGGAGATCCCATACTACGCT
GAGGTTGTGGCCACAAACAACCCAGACAGAAGAGTGAAGCCAGAGACCCAGGGCCGATTCCGCCTCCTTGGGGATGTCCAGAAGAAGAACTGCTCCCTGAGCATC
GGAGATGCCAGAATGGAGGACACGGGAAGCTATTTCTTCCGCGTGGAGAGAGGAAGGGATGTAAAATATAGCTACCAACAGAATAAGCTGAACTTGGAGGTGACA
GCCCTGATAGAGAAACCCGACATCCACTTTCTGGAGCCTCTGGAGTCCGGCCGCCCCACAAGGCTGAGCTGCAGCCTTCCAGGATCCTGTGAAGCGGGACCACCT
CTCACATTCTCCTGGACGGGGAATGCCCTCAGCCCCCTGGACCCCGAGACCACCCGCTCCTCGGAGCTCACCCTCACCCCCAGGCCCGAGGACCATGGCACCAAC
CTCACCTGTCAGATGAAACGCCAAGGAGCTCAGGTGACCACGGAGAGAACTGTCCAGCTCAATGTCTCCTATGCTCCACAGACCATCACCATCTTCAGGAACGGC
ATAGCCCTAGAGATCCTGCAAAACACCTCATACCTTCCGGTCCTGGAGGGCCAGGCTCTGCGGCTGCTCTGTGATGCTCCCAGCAACCCCCCTGCACACCTGAGC
TGGTTCCAGGGCTCCCCTGCCCTGAACGCCACCCCCATCTCCAATACCGGGATCTTGGAGCTTCGTCGAGTAAGGTCTGCAGAAGAAGGAGGCTTCACCTGCCGC
GCTCAGCACCCGCTGGGCTTCCTGCAAATTTTTCTGAATCTCTCAGTTTACTCCCTCCCACAGTTGCTGGGCCCCTCCTGCTCCTGGGAGGCTGAGGGTCTGCAC
TGCAGATGCTCCTTTCGAGCCCGGCCGGCCCCCTCCCTGTGCTGGCGGCTTGAGGAGAAGCCGCTGGAGGGGAACAGCAGCCAGGGCTCATTCAAGGTCAACTCC
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>SIGLEC5|8778|protein
MLPLLLLPLLWGGSLQEKPVYELQVQKSVTVQEGLCVLVPCSFSYPWRSWYSSPPLYVYWFRDGEIPYYAEVVATNNPDRRVKPETQGRFRLLGDVQKKNCSLSI
GDARMEDTGSYFFRVERGRDVKYSYQQNKLNLEVTALIEKPDIHFLEPLESGRPTRLSCSLPGSCEAGPPLTFSWTGNALSPLDPETTRSSELTLTPRPEDHGTN
LTCQMKRQGAQVTTERTVQLNVSYAPQTITIFRNGIALEILQNTSYLPVLEGQALRLLCDAPSNPPAHLSWFQGSPALNATPISNTGILELRRVRSAEEGGFTCR
AQHPLGFLQIFLNLSVYSLPQLLGPSCSWEAEGLHCRCSFRARPAPSLCWRLEEKPLEGNSSQGSFKVNSSSAGPWANSSLILHGGLSSDLKVSCKAWNIYGSQS
GSVLLLQGRSNLGTGVVPAALGGAGVMALLCICLCLIFFLIVKARRKQAAGRPEKMDDEDPIMGTITSGSRKKPWPDSPGDQASPPGDAPPLEEQKELHYASLSF
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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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