AutismKB 2.0

Evidence Details for SERPINB4


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Basic Information Top
Gene Symbol:SERPINB4 ( LEUPIN,PI11,SCCA-2,SCCA1,SCCA2 )
Gene Full Name: serpin peptidase inhibitor, clade B (ovalbumin), member 4
Band: 18q21.33
Quick LinksEntrez ID:6318; OMIM: 600518; Uniprot ID:SPB4_HUMAN; ENSEMBL ID: ENSG00000206073; HGNC ID: 10570
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SERPINB4|6318|nucleotide
ATGAATTCACTCAGTGAAGCCAACACCAAGTTCATGTTCGATCTGTTCCAACAGTTCAGAAAATCAAAAGAGAACAACATCTTCTATTCCCCTATCAGCATCACA
TCAGCATTAGGGATGGTCCTCTTAGGAGCCAAAGACAACACTGCACAACAAATTAGCAAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGAAAAAGCT
GCAACATATCATGTTGATAGGTCAGGAAATGTTCATCACCAGTTTCAAAAGCTTCTGACTGAATTCAACAAATCCACTGATGCATATGAGCTGAAGATCGCCAAC
AAGCTCTTCGGAGAAAAGACGTATCAATTTTTACAGGAATATTTAGATGCCATCAAGAAATTTTACCAGACCAGTGTGGAATCTACTGATTTTGCAAATGCTCCA
GAAGAAAGTCGAAAGAAGATTAACTCCTGGGTGGAAAGTCAAACGAATGAAAAAATTAAAAACCTATTTCCTGATGGGACTATTGGCAATGATACGACACTGGTT
CTTGTGAACGCAATCTATTTCAAAGGGCAGTGGGAGAATAAATTTAAAAAAGAAAACACTAAAGAGGAAAAATTTTGGCCAAACAAGAATACATACAAATCTGTA
CAGATGATGAGGCAATACAATTCCTTTAATTTTGCCTTGCTGGAGGATGTACAGGCCAAGGTCCTGGAAATACCATACAAAGGCAAAGATCTAAGCATGATTGTG
CTGCTGCCAAATGAAATCGATGGTCTGCAGAAGCTTGAAGAGAAACTCACTGCTGAGAAATTGATGGAATGGACAAGTTTGCAGAATATGAGAGAGACATGTGTC
GATTTACACTTACCTCGGTTCAAAATGGAAGAGAGCTATGACCTCAAGGACACGTTGAGAACCATGGGAATGGTGAATATCTTCAATGGGGATGCAGACCTCTCA
GGCATGACCTGGAGCCACGGTCTCTCAGTATCTAAAGTCCTACACAAGGCCTTTGTGGAGGTCACTGAGGAGGGAGTGGAAGCTGCAGCTGCCACCGCTGTAGTA
GTAGTCGAATTATCATCTCCTTCAACTAATGAAGAGTTCTGTTGTAATCACCCTTTCCTATTCTTCATAAGGCAAAATAAGACCAACAGCATCCTCTTCTATGGC
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>SERPINB4|6318|protein
MNSLSEANTKFMFDLFQQFRKSKENNIFYSPISITSALGMVLLGAKDNTAQQISKVLHFDQVTENTTEKAATYHVDRSGNVHHQFQKLLTEFNKSTDAYELKIAN
KLFGEKTYQFLQEYLDAIKKFYQTSVESTDFANAPEESRKKINSWVESQTNEKIKNLFPDGTIGNDTTLVLVNAIYFKGQWENKFKKENTKEEKFWPNKNTYKSV
QMMRQYNSFNFALLEDVQAKVLEIPYKGKDLSMIVLLPNEIDGLQKLEEKLTAEKLMEWTSLQNMRETCVDLHLPRFKMEESYDLKDTLRTMGMVNIFNGDADLS
GMTWSHGLSVSKVLHKAFVEVTEEGVEAAAATAVVVVELSSPSTNEEFCCNHPFLFFIRQNKTNSILFYGRFSSP

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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 (0) 0 (0) 0 (1) 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