AutismKB 2.0

Evidence Details for SSH1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SSH1 ( FLJ21928,FLJ38102,KIAA1298,SSH1L )
Gene Full Name: slingshot homolog 1 (Drosophila)
Band: 12q24.11
Quick LinksEntrez ID:54434; OMIM: 606778; Uniprot ID:SSH1_HUMAN; ENSEMBL ID: ENSG00000084112; HGNC ID: 30579
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SSH1|54434|nucleotide
ATGGCCCTGGTGACCCTGCAGCGCTCGCCCACGCCCAGCGCCGCCTCCTCCTCGGCCAGCAACAGCGAGTTGGAGGCTGGCAGCGAAGAAGATCGAAAATTAAAC
CTCAGCTTAAGTGAGAGCTTTTTCATGGTGAAAGGCGCAGCCCTCTTCTTACAACAGGGAAGCAGCCCTCAAGGCCAGCGGAGTCTTCAGCACCCCCACAAGCAT
GCAGGTGATCTGCCTCAACATCTTCAGGTGATGATCAACCTTCTGCGTTGCGAAGACAGAATCAAGCTGGCAGTGCGCCTGGAGAGCGCCTGGGCGGACCGGGTC
CGGTACATGGTGGTGGTGTACAGCAGCGGGCGCCAGGACACCGAGGAGAATATCTTGCTGGGAGTGGACTTTTCCAGTAAGGAAAGTAAAAGCTGCACCATTGGG
ATGGTTCTCCGACTGTGGAGCGACACGAAAATCCACCTTGATGGAGATGGTGGGTTCAGCGTGAGCACAGCAGGAAGGATGCACATATTTAAGCCTGTGTCTGTC
CAGGCCATGTGGTCTGCCCTGCAGGTGCTTCACAAGGCCTGCGAAGTGGCCCGGAGGCACAACTACTTCCCCGGGGGTGTAGCTCTCATCTGGGCTACCTACTAT
GAGAGCTGCATCAGCTCCGAGCAGAGCTGCATCAACGAGTGGAACGCCATGCAGGACCTGGAGTCTACGCGGCCCGACTCCCCCGCGCTATTTGTGGACAAGCCC
ACTGAAGGGGAAAGGACCGAGCGCCTCATCAAAGCCAAGCTCCGAAGCATCATGATGAGCCAGGATCTAGAAAATGTGACTTCCAAAGAGATTCGTAATGAATTA
GAGAAACAGATGAATTGTAACTTGAAGGAACTCAAGGAATTTATAGACAATGAGATGCTACTTATCTTGGGACAGATGGACAAGCCCTCCCTTATCTTCGATCAT
CTTTATCTCGGCTCTGAATGGAATGCATCCAATCTGGAGGAACTGCAGGGCTCAGGGGTTGATTACATTTTAAATGTTACCAGAGAAATCGATAATTTTTTTCCT
GGCTTATTTGCATATCATAACATCCGAGTCTACGATGAAGAGACCACAGACCTCCTCGCCCACTGGAATGAAGCGTATCATTTTATAAACAAAGCGAAGAGGAAC
Show »

>SSH1|54434|protein
MALVTLQRSPTPSAASSSASNSELEAGSEEDRKLNLSLSESFFMVKGAALFLQQGSSPQGQRSLQHPHKHAGDLPQHLQVMINLLRCEDRIKLAVRLESAWADRV
RYMVVVYSSGRQDTEENILLGVDFSSKESKSCTIGMVLRLWSDTKIHLDGDGGFSVSTAGRMHIFKPVSVQAMWSALQVLHKACEVARRHNYFPGGVALIWATYY
ESCISSEQSCINEWNAMQDLESTRPDSPALFVDKPTEGERTERLIKAKLRSIMMSQDLENVTSKEIRNELEKQMNCNLKELKEFIDNEMLLILGQMDKPSLIFDH
LYLGSEWNASNLEELQGSGVDYILNVTREIDNFFPGLFAYHNIRVYDEETTDLLAHWNEAYHFINKAKRNHSKCLVHCKMGVSRSASTVIAYAMKEFGWPLEKAY
NYVKQKRSITRPNAGFMRQLSEYEGILDASKQRHNKLWRQQTDSSLQQPVDDPAGPGDFLPETPDGTPESQLPFLDDAAQPGLGPPLPCCFRRLSDPLLPSPEDE
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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top