Evidence Details for SERPIND1
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 Links | Entrez 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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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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MKHSLNALLIFLIITSAWGGSKGPLDQLEKGGETAQSADPQWEQLNNKNLSMPLLPADFHKENTVTNDWIPEGEEDDDYLDLEKIFSEDDDYIDIVDSLSVSPTD
SDVSAGNILQLFHGKSRIQRLNILNAKFAFNLYRVLKDQVNTFDNIFIAPVGISTAMGMISLGLKGETHEQVHSILHFKDFVNASSKYEITTIHNLFRKLTHRLF
RRNFGYTLRSVNDLYIQKQFPILLDFKTKVREYYFAEAQIADFSDPAFISKTNNHIMKLTKGLIKDALENIDPATQMMILNCIYFKGSWVNKFPVEMTHNHNFRL
NEREVVKVSMMQTKGNFLAANDQELDCDILQLEYVGGISMLIVVPHKMSGMKTLEAQLTPRVVERWQKSMTNRTREVLLPKFKLEKNYNLVESLKLMGIRMLFDK
NGNMAGISDQRIAIDLFKHQGTITVNEEGTQATTVTTVGFMPLSTQVRFTVDRPFLFLIYEHRTSCLLFMGRVANPSRS
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Evidence summary TopClick 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) | 2 (11) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 7 (13) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Christian, 2008 | USA | aCGH | | | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
| Bucan, 2009 | USA | SNP microarray | | | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen | | | PDD | 99 | - | 99 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 0
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | ||||||||||||
Proteomics Studies:1
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| Corbett, 2007_1 | USA | blood | liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) | 69 (15.94%) | | | ASD | 35 (17.14%) |
|
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.