AutismKB 2.0

Evidence Details for SERPIND1


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Basic Information Top
Gene Symbol:SERPIND1 ( D22S673,HC2,HCF2,HCII,HLS2,LS2 )
Gene Full Name: serpin peptidase inhibitor, clade D (heparin cofactor), member 1
Band: 22q11.21
Quick LinksEntrez ID:3053; OMIM: 142360; Uniprot ID:HEP2_HUMAN; ENSEMBL ID: ENSG00000099937; HGNC ID: 4838
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SERPIND1|3053|nucleotide
ATGAAACACTCATTAAACGCACTTCTCATTTTCCTCATCATAACATCTGCGTGGGGTGGGAGCAAAGGCCCGCTGGATCAGCTAGAGAAAGGAGGGGAAACTGCT
CAGTCTGCAGATCCCCAGTGGGAGCAGTTAAATAACAAAAACCTGAGCATGCCTCTTCTCCCTGCCGACTTCCACAAGGAAAACACCGTCACCAACGACTGGATT
CCAGAGGGGGAGGAGGACGACGACTATCTGGACCTGGAGAAGATATTCAGTGAAGACGACGACTACATCGACATCGTCGACAGTCTGTCAGTTTCCCCGACAGAC
TCTGATGTGAGTGCTGGGAACATCCTCCAGCTTTTTCATGGCAAGAGCCGGATCCAGCGTCTTAACATCCTCAACGCCAAGTTCGCTTTCAACCTCTACCGAGTG
CTGAAAGACCAGGTCAACACTTTCGATAACATCTTCATAGCACCCGTTGGCATTTCTACTGCGATGGGTATGATTTCCTTAGGTCTGAAGGGAGAGACCCATGAA
CAAGTGCACTCGATTTTGCATTTTAAAGACTTTGTTAATGCCAGCAGCAAGTATGAAATCACGACCATTCATAATCTCTTCCGTAAGCTGACTCATCGCCTCTTC
AGGAGGAATTTTGGGTACACACTGCGGTCAGTCAATGACCTTTATATCCAGAAGCAGTTTCCAATCCTGCTTGACTTCAAAACTAAAGTAAGAGAGTATTACTTT
GCTGAGGCCCAGATAGCTGACTTCTCAGACCCTGCCTTCATATCAAAAACCAACAACCACATCATGAAGCTCACCAAGGGCCTCATAAAAGATGCTCTGGAGAAT
ATAGACCCTGCTACCCAGATGATGATTCTCAACTGCATCTACTTCAAAGGATCCTGGGTGAATAAATTCCCAGTGGAAATGACACACAACCACAACTTCCGGCTG
AATGAGAGAGAGGTAGTTAAGGTTTCCATGATGCAGACCAAGGGGAACTTCCTCGCAGCAAATGACCAGGAGCTGGACTGCGACATCCTCCAGCTGGAATACGTG
GGGGGCATCAGCATGCTAATTGTGGTCCCACACAAGATGTCTGGGATGAAGACCCTCGAAGCGCAACTGACACCCCGGGTGGTGGAGAGATGGCAAAAAAGCATG
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>SERPIND1|3053|protein
MKHSLNALLIFLIITSAWGGSKGPLDQLEKGGETAQSADPQWEQLNNKNLSMPLLPADFHKENTVTNDWIPEGEEDDDYLDLEKIFSEDDDYIDIVDSLSVSPTD
SDVSAGNILQLFHGKSRIQRLNILNAKFAFNLYRVLKDQVNTFDNIFIAPVGISTAMGMISLGLKGETHEQVHSILHFKDFVNASSKYEITTIHNLFRKLTHRLF
RRNFGYTLRSVNDLYIQKQFPILLDFKTKVREYYFAEAQIADFSDPAFISKTNNHIMKLTKGLIKDALENIDPATQMMILNCIYFKGSWVNKFPVEMTHNHNFRL
NEREVVKVSMMQTKGNFLAANDQELDCDILQLEYVGGISMLIVVPHKMSGMKTLEAQLTPRVVERWQKSMTNRTREVLLPKFKLEKNYNLVESLKLMGIRMLFDK
NGNMAGISDQRIAIDLFKHQGTITVNEEGTQATTVTTVGFMPLSTQVRFTVDRPFLFLIYEHRTSCLLFMGRVANPSRS
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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) 2 (11) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 7 (13)
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
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Ramelli, 2008 - FISHASD - - - - 1 - 1
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Bremer, 2011 - aCGHASD - - - - 223 - 223
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top