AutismKB 2.0

Evidence Details for SSPN


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Basic Information Top
Gene Symbol:SSPN ( DAGA5,KRAG,NSPN,SPN1,SPN2,nanospan )
Gene Full Name: sarcospan (Kras oncogene-associated gene)
Band: 12p11.2
Quick LinksEntrez ID:8082; OMIM: 601599; Uniprot ID:SSPN_HUMAN; ENSEMBL ID: ENSG00000123096; HGNC ID: 11322
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SSPN|8082|nucleotide
ATGCTTTGTGTCTCATATCAGGTTGACGAACGGACATGTATTCAATTTTCTATGAAACTGTTATACTTTCTGCTGAGTGCCCTGGGCCTGACGGTCTGTGTGCTG
GCCGTGGCCTTTGCCGCCCACCACTATTCGCAGCTCACACAGTTTACCTGTGAGACCACACTCGACTCTTGCCAGTGCAAACTGCCCTCCTCGGAGCCGCTCAGC
AGGACCTTTGTTTACCGGGATGTGACGGACTGTACCAGCGTCACTGGCACTTTCAAACTGTTCTTACTCATCCAGATGATTCTTAATTTGGTCTGCGGCCTTGTG
TGCTTGTTGGCCTGCTTTGTGATGTGGAAACATAGGTACCAGGTCTTCTATGTGGGTGTCAGGATATGCTCCCTCACGGCTTCCGAAGGCCCCCAGCAAAAGATC
TAA






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>SSPN|8082|protein
MLCVSYQVDERTCIQFSMKLLYFLLSALGLTVCVLAVAFAAHHYSQLTQFTCETTLDSCQCKLPSSEPLSRTFVYRDVTDCTSVTGTFKLFLLIQMILNLVCGLV
CLLACFVMWKHRYQVFYVGVRICSLTASEGPQQKI



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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 (3) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
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
Soysal, 2011 - aCGH--ASD - - - - 1 - 1
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top