AutismKB 2.0

Evidence Details for SERPINB7


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Basic Information Top
Gene Symbol:SERPINB7 ( DKFZp686D06190,MEGSIN,MGC120014,MGC120015 )
Gene Full Name: serpin peptidase inhibitor, clade B (ovalbumin), member 7
Band: 18q21.33
Quick LinksEntrez ID:8710; OMIM: 603357; Uniprot ID:SPB7_HUMAN; ENSEMBL ID: ENSG00000166396; HGNC ID: 13902
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SERPINB7|8710|nucleotide
ATGGCCTCCCTTGCTGCAGCAAATGCAGAGTTTTGCTTCAACCTGTTCAGAGAGATGGATGACAATCAAGGAAATGGAAATGTGTTCTTTTCCTCTCTGAGCCTC
TTCGCTGCCCTGGCCCTGGTCCGCTTGGGCGCTCAAGATGACTCCCTCTCTCAGATTGATAAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCT
AATAGTCAGTCAGGGCTCCAGTCTCAACTGAAAAGAGTTTTTTCTGATATAAATGCATCCCACAAGGATTATGATCTCAGCATTGTGAATGGGCTTTTTGCTGAA
AAAGTGTATGGCTTTCATAAGGACTACATTGAGTGTGCCGAAAAATTATACGATGCCAAAGTGGAGCGAGTTGACTTTACGAATCATTTAGAAGACACTAGACGT
AATATTAATAAGTGGGTTGAAAATGAAACACATGGCAAAATCAAGAACGTGATTGGTGAAGGTGGCATAAGCTCATCTGCTGTAATGGTGCTGGTGAATGCTGTG
TACTTCAAAGGCAAGTGGCAATCAGCCTTCACCAAGAGCGAAACCATAAATTGCCATTTCAAATCTCCCAAGTGCTCTGGGAAGGCAGTCGCCATGATGCATCAG
GAACGGAAGTTCAATTTGTCTGTTATTGAGGACCCATCAATGAAGATTCTTGAGCTCAGATACAATGGTGGCATAAACATGTACGTTCTGCTGCCTGAGAATGAC
CTCTCTGAAATTGAAAACAAACTGACCTTTCAGAATCTAATGGAATGGACCAATCCAAGGCGAATGACCTCTAAGTATGTTGAGGTATTTTTTCCTCAGTTCAAG
ATAGAGAAGAATTATGAAATGAAACAATATTTGAGAGCCCTAGGGCTGAAAGATATCTTTGATGAATCCAAAGCAGATCTCTCTGGGATTGCTTCGGGGGGTCGT
CTGTATATATCAAGGATGATGCACAAATCTTACATAGAGGTCACTGAGGAGGGCACCGAGGCTACTGCTGCCACAGGAAGTAATATTGTAGAAAAGCAACTCCCT
CAGTCCACGCTGTTTAGAGCTGACCACCCATTCCTATTTGTTATCAGGAAGGATGACATCATCTTATTCAGTGGCAAAGTTTCTTGCCCTTGA
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>SERPINB7|8710|protein
MASLAAANAEFCFNLFREMDDNQGNGNVFFSSLSLFAALALVRLGAQDDSLSQIDKLLHVNTASGYGNSSNSQSGLQSQLKRVFSDINASHKDYDLSIVNGLFAE
KVYGFHKDYIECAEKLYDAKVERVDFTNHLEDTRRNINKWVENETHGKIKNVIGEGGISSSAVMVLVNAVYFKGKWQSAFTKSETINCHFKSPKCSGKAVAMMHQ
ERKFNLSVIEDPSMKILELRYNGGINMYVLLPENDLSEIENKLTFQNLMEWTNPRRMTSKYVEVFFPQFKIEKNYEMKQYLRALGLKDIFDESKADLSGIASGGR
LYISRMMHKSYIEVTEEGTEATAATGSNIVEKQLPQSTLFRADHPFLFVIRKDDIILFSGKVSCP

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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top