AutismKB 2.0

Evidence Details for SSH2


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Basic Information Top
Gene Symbol:SSH2 ( KIAA1725,MGC78588,SSH-2 )
Gene Full Name: slingshot homolog 2 (Drosophila)
Band: 17q11.2
Quick LinksEntrez ID:85464; OMIM: 606779; Uniprot ID:SSH2_HUMAN; ENSEMBL ID: ENSG00000141298; HGNC ID: 30580
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SSH2|85464|nucleotide
ATGGCTTTGGTCACGGTCCAGCGGTCACCTACCCCCAGCACCACCTCCAGCCCCTGCGCCTCGGAGGCAGACAGTGGGGAGGAAGAATGCCGGTCACAGCCCAGG
AGCATCAGCGAGAGCTTTCTAACTGTCAAAGGTGCTGCCCTTTTTCTACCACGGGGAAATGGCTCATCCACACCAAGAATCAGCCACAGACGGAACAAGCATGCA
GGCGATCTCCAACAGCATCTCCAAGCAATGTTCATTTTACTCCGCCCAGAAGACAACATCAGACTGGCTGTAAGACTGGAAAGTACTTACCAGAATCGAACACGC
TATATGGTAGTGGTTTCAACTAATGGTAGACAAGACACTGAAGAAAGCATCGTCCTAGGAATGGATTTCTCCTCTAATGACAGTAGCACTTGTACCATGGGCTTA
GTTTTGCCTCTCTGGAGCGACACGCTAATTCATTTGGATGGTGATGGTGGGTTCAGTGTATCGACGGATAACAGAGTTCACATATTCAAACCTGTATCTGTGCAG
GCAATGTGGTCTGCACTACAGAGCTTACACAAGGCTTGTGAAGTCGCCAGAGCGCATAACTACTACCCAGGCAGCCTATTTCTCACTTGGGTGAGTTATTATGAG
AGCCATATCAACTCAGATCAATCCTCAGTCAATGAATGGAATGCAATGCAAGATGTACAGTCCCACCGGCCCGACTCTCCAGCTCTCTTCACCGACATACCTACT
GAACGTGAACGAACAGAAAGGCTAATTAAAACCAAATTAAGGGAGATCATGATGCAGAAGGATTTGGAGAATATTACATCCAAAGAGATAAGAACAGAGTTGGAA
ATGCAAATGGTGTGCAACTTGCGGGAATTCAAGGAATTTATAGACAATGAAATGATAGTGATCCTTGGTCAAATGGATAGCCCTACACAGATATTTGAGCATGTG
TTCCTGGGCTCAGAATGGAATGCCTCCAACTTAGAGGACTTACAGAACCGAGGGGTACGGTATATCTTGAATGTCACTCGAGAGATAGATAACTTCTTCCCAGGA
GTCTTTGAGTATCATAACATTCGGGTATATGATGAAGAGGCAACGGATCTCCTGGCGTACTGGAATGACACTTACAAATTCATCTCTAAAGCAAAGAAACATGGA
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>SSH2|85464|protein
MALVTVQRSPTPSTTSSPCASEADSGEEECRSQPRSISESFLTVKGAALFLPRGNGSSTPRISHRRNKHAGDLQQHLQAMFILLRPEDNIRLAVRLESTYQNRTR
YMVVVSTNGRQDTEESIVLGMDFSSNDSSTCTMGLVLPLWSDTLIHLDGDGGFSVSTDNRVHIFKPVSVQAMWSALQSLHKACEVARAHNYYPGSLFLTWVSYYE
SHINSDQSSVNEWNAMQDVQSHRPDSPALFTDIPTERERTERLIKTKLREIMMQKDLENITSKEIRTELEMQMVCNLREFKEFIDNEMIVILGQMDSPTQIFEHV
FLGSEWNASNLEDLQNRGVRYILNVTREIDNFFPGVFEYHNIRVYDEEATDLLAYWNDTYKFISKAKKHGSKCLVHCKMGVSRSASTVIAYAMKEYGWNLDRAYD
YVKERRTVTKPNPSFMRQLEEYQGILLASKQRHNKLWRSHSDSDLSDHHEPICKPGLELNKKDITTSADQIAEVKTMESHPPIPPVFVEHMVPQDANQKGLCTKE
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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) 2 (6) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (7)
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
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
Yonan, 2003 USA microsatellite-based genomic screenPDD 345 - 345 - - - -
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Ylisaukko-oja, 2006 USA, Finland microsatellite-based genomic screenASD 314 - 314 - - - -
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
Sutcliffe, 2005 USA, AGRE microsatellite-based genomic screenASD 341 - 341 - - - -
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