AutismKB 2.0

Evidence Details for SERPINA4


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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 LinksEntrez 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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>SERPINA4|5267|protein
MHLIDYLLLLLVGLLALSHGQLHVEHDGESCSNSSHQQILETGEGSPSLKIAPANADFAFRFYYLIASETPGKNIFFSPLSISAAYAMLSLGACSHSRSQILEGL
GFNLTELSESDVHRGFQHLLHTLNLPGHGLETRVGSALFLSHNLKFLAKFLNDTMAVYEAKLFHTNFYDTVGTIQLINDHVKKETRGKIVDLVSELKKDVLMVLV
NYIYFKALWEKPFISSRTTPKDFYVDENTTVRVPMMLQDQEHHWYLHDRYLPCSVLRMDYKGDATVFFILPNQGKMREIEEVLTPEMLMRWNNLLRKRNFYKKLE
LHLPKFSISGSYVLDQILPRLGFTDLFSKWADLSGITKQQKLEASKSFHKATLDVDEAGTEAAAATSFAIKFFSAQTNRHILRFNRPFLVVIFSTSTQSVLFLGK
VVDPTKP
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Evidence summary Top

Click 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 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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top