Evidence Details for SERPINF2
Basic Information Top
Gene Symbol: | SERPINF2 ( A2AP,AAP,ALPHA-2-PI,API,PLI ) |
---|---|
Gene Full Name: | serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 |
Band: | 17p13.3 |
Quick Links | Entrez ID:5345; OMIM: 613168; Uniprot ID:A2AP_HUMAN; ENSEMBL ID: ENSG00000167711; HGNC ID: 9075 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SERPINF2|5345|nucleotide
ATGGCGCTGCTCTGGGGGCTCCTGGTGCTCAGCTGGTCCTGCCTGCAAGGCCCCTGCTCCGTGTTCTCCCCTGTGAGCGCCATGGAGCCCTTGGGCCGGCAGCTA
ACTAGCGGGCCGAACCAGGAGCAGGTGTCCCCACTTACCCTCCTCAAGTTGGGCAACCAGGAGCCTGGTGGCCAGACTGCCCTGAAGAGTCCCCCAGGAGTCTGC
AGCAGAGACCCCACCCCAGAGCAGACCCACAGGCTGGCCCGGGCCATGATGGCCTTCACTGCCGACCTGTTCTCCCTGGTGGCTCAAACGTCCACCTGCCCCAAC
CTCATCCTGTCACCCCTGAGTGTGGCCCTGGCGCTGTCTCACCTGGCACTAGGTGCTCAGAACCACACGTTGCAGAGGCTGCAACAGGTGCTGCACGCAGGCTCA
GGGCCCTGCCTCCCCCATCTGCTGAGCCGCCTCTGCCAGGACCTGGGCCCCGGCGCGTTCCGACTGGCTGCCAGGATGTACCTGCAGAAAGGATTTCCCATCAAA
GAAGATTTCCTGGAACAATCCGAACAGCTATTTGGGGCAAAGCCCGTGAGCCTGACGGGAAAGCAGGAAGATGACCTGGCAAACATCAACCAATGGGTGAAGGAG
GCCACGGAGGGGAAGATTCAGGAATTCCTCTCTGGGCTGCCGGAAGACACCGTGTTGCTTCTCCTCAACGCCATCCACTTCCAGGGTTTCTGGAGGAACAAGTTT
GACCCGAGCCTTACCCAGAGAGACTCCTTCCACCTGGACGAGCAGTTCACGGTGCCCGTGGAAATGATGCAGGCCCGCACGTACCCGCTGCGCTGGTTCTTGCTG
GAGCAGCCTGAGATCCAGGTGGCTCATTTCCCCTTTAAGAACAACATGAGCTTTGTGGTCCTTGTACCCACCCACTTTGAATGGAACGTGTCCCAGGTACTGGCC
AACCTGAGTTGGGACACCCTGCACCCACCTCTGGTGTGGGAGAGGCCCACCAAGGTCCGGCTGCCTAAGCTGTATCTGAAACACCAAATGGACCTGGTGGCCACC
CTCAGCCAGCTGGGCCTGCAGGAGTTGTTCCAGGCCCCAGACCTGCGTGGGATCTCCGAGCAGAGCCTGGTGGTGTCCGGCGTGCAGCATCAGTCCACCCTGGAG
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ATGGCGCTGCTCTGGGGGCTCCTGGTGCTCAGCTGGTCCTGCCTGCAAGGCCCCTGCTCCGTGTTCTCCCCTGTGAGCGCCATGGAGCCCTTGGGCCGGCAGCTA
ACTAGCGGGCCGAACCAGGAGCAGGTGTCCCCACTTACCCTCCTCAAGTTGGGCAACCAGGAGCCTGGTGGCCAGACTGCCCTGAAGAGTCCCCCAGGAGTCTGC
AGCAGAGACCCCACCCCAGAGCAGACCCACAGGCTGGCCCGGGCCATGATGGCCTTCACTGCCGACCTGTTCTCCCTGGTGGCTCAAACGTCCACCTGCCCCAAC
CTCATCCTGTCACCCCTGAGTGTGGCCCTGGCGCTGTCTCACCTGGCACTAGGTGCTCAGAACCACACGTTGCAGAGGCTGCAACAGGTGCTGCACGCAGGCTCA
GGGCCCTGCCTCCCCCATCTGCTGAGCCGCCTCTGCCAGGACCTGGGCCCCGGCGCGTTCCGACTGGCTGCCAGGATGTACCTGCAGAAAGGATTTCCCATCAAA
GAAGATTTCCTGGAACAATCCGAACAGCTATTTGGGGCAAAGCCCGTGAGCCTGACGGGAAAGCAGGAAGATGACCTGGCAAACATCAACCAATGGGTGAAGGAG
GCCACGGAGGGGAAGATTCAGGAATTCCTCTCTGGGCTGCCGGAAGACACCGTGTTGCTTCTCCTCAACGCCATCCACTTCCAGGGTTTCTGGAGGAACAAGTTT
GACCCGAGCCTTACCCAGAGAGACTCCTTCCACCTGGACGAGCAGTTCACGGTGCCCGTGGAAATGATGCAGGCCCGCACGTACCCGCTGCGCTGGTTCTTGCTG
GAGCAGCCTGAGATCCAGGTGGCTCATTTCCCCTTTAAGAACAACATGAGCTTTGTGGTCCTTGTACCCACCCACTTTGAATGGAACGTGTCCCAGGTACTGGCC
AACCTGAGTTGGGACACCCTGCACCCACCTCTGGTGTGGGAGAGGCCCACCAAGGTCCGGCTGCCTAAGCTGTATCTGAAACACCAAATGGACCTGGTGGCCACC
CTCAGCCAGCTGGGCCTGCAGGAGTTGTTCCAGGCCCCAGACCTGCGTGGGATCTCCGAGCAGAGCCTGGTGGTGTCCGGCGTGCAGCATCAGTCCACCCTGGAG
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>SERPINF2|5345|protein
MALLWGLLVLSWSCLQGPCSVFSPVSAMEPLGRQLTSGPNQEQVSPLTLLKLGNQEPGGQTALKSPPGVCSRDPTPEQTHRLARAMMAFTADLFSLVAQTSTCPN
LILSPLSVALALSHLALGAQNHTLQRLQQVLHAGSGPCLPHLLSRLCQDLGPGAFRLAARMYLQKGFPIKEDFLEQSEQLFGAKPVSLTGKQEDDLANINQWVKE
ATEGKIQEFLSGLPEDTVLLLLNAIHFQGFWRNKFDPSLTQRDSFHLDEQFTVPVEMMQARTYPLRWFLLEQPEIQVAHFPFKNNMSFVVLVPTHFEWNVSQVLA
NLSWDTLHPPLVWERPTKVRLPKLYLKHQMDLVATLSQLGLQELFQAPDLRGISEQSLVVSGVQHQSTLELSEVGVEAAAATSIAMSRMSLSSFSVNRPFLFFIF
EDTTGLPLFVGSVRNPNPSAPRELKEQQDSPGNKDFLQSLKGFPRGDKLFGPDLKLVPPMEEDYPQFGSPK
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MALLWGLLVLSWSCLQGPCSVFSPVSAMEPLGRQLTSGPNQEQVSPLTLLKLGNQEPGGQTALKSPPGVCSRDPTPEQTHRLARAMMAFTADLFSLVAQTSTCPN
LILSPLSVALALSHLALGAQNHTLQRLQQVLHAGSGPCLPHLLSRLCQDLGPGAFRLAARMYLQKGFPIKEDFLEQSEQLFGAKPVSLTGKQEDDLANINQWVKE
ATEGKIQEFLSGLPEDTVLLLLNAIHFQGFWRNKFDPSLTQRDSFHLDEQFTVPVEMMQARTYPLRWFLLEQPEIQVAHFPFKNNMSFVVLVPTHFEWNVSQVLA
NLSWDTLHPPLVWERPTKVRLPKLYLKHQMDLVATLSQLGLQELFQAPDLRGISEQSLVVSGVQHQSTLELSEVGVEAAAATSIAMSRMSLSSFSVNRPFLFFIF
EDTTGLPLFVGSVRNPNPSAPRELKEQQDSPGNKDFLQSLKGFPRGDKLFGPDLKLVPPMEEDYPQFGSPK
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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) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (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 | ||||||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large 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 Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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