AutismKB 2.0

Evidence Details for SSR2


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Basic Information Top
Gene Symbol:SSR2 ( DKFZp686F19123,TLAP,TRAP-BETA,TRAPB )
Gene Full Name: signal sequence receptor, beta (translocon-associated protein beta)
Band: 1q22
Quick LinksEntrez ID:6746; OMIM: 600867; Uniprot ID:SSRB_HUMAN; ENSEMBL ID: ENSG00000163479; HGNC ID: 11324
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SSR2|6746|nucleotide
ATGAGGCTGCTGTCATTTGTGGTGTTGGCTCTATTTGCTGTCACTCAAGCAGAGGAAGGAGCCAGGCTTTTGGCTTCCAAATCACTGCTGAACAGATACGCCGTG
GAGGGACGAGACCTGACCTTGCAGTACAACATCTACAATGTTGGCTCAAGTGCTGCATTAGACGTGGAACTATCTGATGATTCCTTCCCTCCAGAAGACTTTGGC
ATTGTGTCTGGAATGCTCAATGTCAAATGGGACCGGATTGCCCCTGCTAGCAATGTCTCCCACACTGTGGTCCTGCGCCCTCTCAAGGCTGGTTATTTCAACTTC
ACCTCGGCAACAATTACTTACCTGGCCCAGGAGGATGGGCCCGTTGTGATTGGCTCTACCAGTGCACCTGGACAGGGAGGAATCCTGGCTCAGCGGGAGTTTGAC
AGGCGATTCTCCCCTCATTTTCTGGACTGGGCAGCCTTTGGGGTCATGACCCTTCCCTCCATCGGCATCCCCCTGCTATTGTGGTACTCCAGCAAGAGGAAATAT
GACACTCCCAAAACGAAGAAGAACTGA





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>SSR2|6746|protein
MRLLSFVVLALFAVTQAEEGARLLASKSLLNRYAVEGRDLTLQYNIYNVGSSAALDVELSDDSFPPEDFGIVSGMLNVKWDRIAPASNVSHTVVLRPLKAGYFNF
TSATITYLAQEDGPVVIGSTSAPGQGGILAQREFDRRFSPHFLDWAAFGVMTLPSIGIPLLLWYSSKRKYDTPKTKKN



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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top