Evidence Details for SERPINA4
Basic Information Top
| Gene Symbol: | SERPINA4 ( KAL,KLST,KST,PI4,kallistatin ) |
|---|---|
| Gene Full Name: | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 |
| Band: | 14q32.13 |
| Quick Links | Entrez ID:5267; OMIM: 147935; Uniprot ID:KAIN_HUMAN; ENSEMBL ID: ENSG00000100665; HGNC ID: 8948 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SERPINA4|5267|nucleotide
ATGCATCTTATCGACTACCTGCTCCTCCTGCTGGTTGGACTACTGGCCCTTTCTCATGGCCAGCTGCACGTTGAGCATGATGGTGAGAGTTGCAGTAACAGCTCC
CACCAGCAGATTCTGGAGACAGGTGAGGGCTCCCCCAGCCTCAAGATAGCCCCTGCCAATGCTGACTTTGCCTTCCGCTTCTACTACCTGATCGCTTCGGAGACC
CCGGGGAAGAACATCTTTTTCTCCCCGCTGAGCATCTCGGCGGCCTACGCCATGCTTTCCCTGGGGGCCTGCTCACACAGCCGCAGCCAGATCCTTGAGGGCCTG
GGCTTCAACCTCACCGAGCTGTCTGAGTCCGATGTCCATAGGGGCTTCCAGCACCTCCTGCACACTCTCAACCTCCCCGGCCATGGGCTGGAAACACGCGTGGGC
AGTGCTCTGTTCCTGAGCCACAACCTGAAGTTCCTTGCAAAATTCCTGAATGACACCATGGCCGTCTATGAGGCTAAACTCTTCCACACCAACTTCTACGACACT
GTGGGCACAATCCAGCTTATCAACGACCACGTCAAGAAGGAAACTCGAGGGAAGATTGTGGATTTGGTCAGTGAGCTCAAGAAGGACGTCTTGATGGTGCTGGTG
AATTACATTTACTTCAAAGCCCTGTGGGAGAAACCATTCATTTCCTCAAGGACCACTCCCAAAGACTTTTATGTTGATGAGAACACAACAGTCCGGGTGCCCATG
ATGCTGCAGGACCAGGAGCATCACTGGTATCTTCATGACAGATACTTGCCCTGCTCGGTGCTACGGATGGATTACAAAGGAGACGCAACCGTGTTTTTCATTCTC
CCTAACCAAGGCAAAATGAGGGAGATTGAAGAGGTTCTGACTCCAGAGATGCTAATGAGGTGGAACAACTTGTTGCGGAAGAGGAATTTTTACAAGAAGCTAGAG
TTGCATCTTCCCAAGTTCTCCATTTCTGGCTCCTATGTATTAGATCAGATTTTGCCCAGGCTGGGCTTCACGGATCTGTTCTCCAAGTGGGCTGACTTATCCGGC
ATCACCAAACAGCAAAAACTGGAGGCATCCAAAAGTTTCCACAAGGCCACCTTGGACGTGGATGAGGCTGGCACCGAGGCTGCAGCAGCCACCAGCTTCGCGATC
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ATGCATCTTATCGACTACCTGCTCCTCCTGCTGGTTGGACTACTGGCCCTTTCTCATGGCCAGCTGCACGTTGAGCATGATGGTGAGAGTTGCAGTAACAGCTCC
CACCAGCAGATTCTGGAGACAGGTGAGGGCTCCCCCAGCCTCAAGATAGCCCCTGCCAATGCTGACTTTGCCTTCCGCTTCTACTACCTGATCGCTTCGGAGACC
CCGGGGAAGAACATCTTTTTCTCCCCGCTGAGCATCTCGGCGGCCTACGCCATGCTTTCCCTGGGGGCCTGCTCACACAGCCGCAGCCAGATCCTTGAGGGCCTG
GGCTTCAACCTCACCGAGCTGTCTGAGTCCGATGTCCATAGGGGCTTCCAGCACCTCCTGCACACTCTCAACCTCCCCGGCCATGGGCTGGAAACACGCGTGGGC
AGTGCTCTGTTCCTGAGCCACAACCTGAAGTTCCTTGCAAAATTCCTGAATGACACCATGGCCGTCTATGAGGCTAAACTCTTCCACACCAACTTCTACGACACT
GTGGGCACAATCCAGCTTATCAACGACCACGTCAAGAAGGAAACTCGAGGGAAGATTGTGGATTTGGTCAGTGAGCTCAAGAAGGACGTCTTGATGGTGCTGGTG
AATTACATTTACTTCAAAGCCCTGTGGGAGAAACCATTCATTTCCTCAAGGACCACTCCCAAAGACTTTTATGTTGATGAGAACACAACAGTCCGGGTGCCCATG
ATGCTGCAGGACCAGGAGCATCACTGGTATCTTCATGACAGATACTTGCCCTGCTCGGTGCTACGGATGGATTACAAAGGAGACGCAACCGTGTTTTTCATTCTC
CCTAACCAAGGCAAAATGAGGGAGATTGAAGAGGTTCTGACTCCAGAGATGCTAATGAGGTGGAACAACTTGTTGCGGAAGAGGAATTTTTACAAGAAGCTAGAG
TTGCATCTTCCCAAGTTCTCCATTTCTGGCTCCTATGTATTAGATCAGATTTTGCCCAGGCTGGGCTTCACGGATCTGTTCTCCAAGTGGGCTGACTTATCCGGC
ATCACCAAACAGCAAAAACTGGAGGCATCCAAAAGTTTCCACAAGGCCACCTTGGACGTGGATGAGGCTGGCACCGAGGCTGCAGCAGCCACCAGCTTCGCGATC
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>SERPINA4|5267|protein
MHLIDYLLLLLVGLLALSHGQLHVEHDGESCSNSSHQQILETGEGSPSLKIAPANADFAFRFYYLIASETPGKNIFFSPLSISAAYAMLSLGACSHSRSQILEGL
GFNLTELSESDVHRGFQHLLHTLNLPGHGLETRVGSALFLSHNLKFLAKFLNDTMAVYEAKLFHTNFYDTVGTIQLINDHVKKETRGKIVDLVSELKKDVLMVLV
NYIYFKALWEKPFISSRTTPKDFYVDENTTVRVPMMLQDQEHHWYLHDRYLPCSVLRMDYKGDATVFFILPNQGKMREIEEVLTPEMLMRWNNLLRKRNFYKKLE
LHLPKFSISGSYVLDQILPRLGFTDLFSKWADLSGITKQQKLEASKSFHKATLDVDEAGTEAAAATSFAIKFFSAQTNRHILRFNRPFLVVIFSTSTQSVLFLGK
VVDPTKP
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MHLIDYLLLLLVGLLALSHGQLHVEHDGESCSNSSHQQILETGEGSPSLKIAPANADFAFRFYYLIASETPGKNIFFSPLSISAAYAMLSLGACSHSRSQILEGL
GFNLTELSESDVHRGFQHLLHTLNLPGHGLETRVGSALFLSHNLKFLAKFLNDTMAVYEAKLFHTNFYDTVGTIQLINDHVKKETRGKIVDLVSELKKDVLMVLV
NYIYFKALWEKPFISSRTTPKDFYVDENTTVRVPMMLQDQEHHWYLHDRYLPCSVLRMDYKGDATVFFILPNQGKMREIEEVLTPEMLMRWNNLLRKRNFYKKLE
LHLPKFSISGSYVLDQILPRLGFTDLFSKWADLSGITKQQKLEASKSFHKATLDVDEAGTEAAAATSFAIKFFSAQTNRHILRFNRPFLVVIFSTSTQSVLFLGK
VVDPTKP
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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) | 0 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (2) |
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 | ||||||
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies TopLow 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.