AutismKB 2.0

Evidence Details for CAPN12


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Basic Information Top
Gene Symbol:CAPN12 ( MGC20576 )
Gene Full Name: calpain 12
Band: 19q13.2
Quick LinksEntrez ID:147968; OMIM: 608839; Uniprot ID:CAN12_HUMAN; ENSEMBL ID: ENSG00000182472; HGNC ID: 13249
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CAPN12|147968|nucleotide
ATGGCATCCAGCAGTGGGAGGGTCACCATCCAGCTCGTGGATGAGGAGGCTGGGGTCGGAGCCGGGCGCCTGCAGCTTTTTCGGGGCCAGAGCTATGAGGCAATT
CGGGCAGCCTGCCTGGATTCGGGGATCCTGTTCCGCGACCCTTACTTCCCTGCTGGCCCTGATGCCCTTGGCTATGACCAGCTGGGGCCGGACTCGGAGAAGGCC
AAAGGCGTGAAATGGATGAGGCCCCATGAGTTCTGTGCTGAGCCGAAGTTCATCTGTGAAGACATGAGCCGCACAGACGTGTGTCAGGGGAGCCTGGGTAACTGC
TGGTTCCTTGCAGCCGCCGCCTCCCTTACTCTGTATCCCCGGCTCCTGCGCCGGGTGGTCCCTCCTGGACAGGATTTCCAGCATGGCTACGCAGGCGTCTTCCAC
TTCCAGCTCTGGCAGTTTGGCCGCTGGATGGACGTCGTGGTGGATGACAGGCTGCCCGTGCGTGAGGGGAAGCTGATGTTCGTGCGCTCGGAACAGCGGAATGAG
TTCTGGGCCCCACTCCTGGAGAAGGCCTACGCCAAGCTCCACGGCTCCTATGAGGTGATGCGGGGCGGCCACATGAATGAGGCTTTTGTGGATTTCACAGGCGGC
GTGGGCGAGGTGCTCTATCTGAGACAAAACAGCATGGGGCTGTTCTCTGCCCTGCGCCATGCCCTGGCCAAGGAGTCCCTCGTGGGCGCCACTGCCCTGAGTGAT
CGGGGTGAGTACCGCACAGAAGAGGGCCTGGTAAAGGGACACGCGTATTCCATCACGGGCACACACAAGGTGTTCCTGGGCTTCACCAAGGTGCGGCTGCTGCGG
CTGCGGAACCCATGGGGCTGCGTGGAGTGGACGGGGGCCTGGAGCGACAGCTGCCCACGCTGGGACACACTCCCCACCGAGTGCCGCGATGCCCTGCTGGTGAAA
AAGGAGGATGGCGAGTTCTGGATGGAGCTGCGGGACTTCCTCCTCCATTTCGACACCGTGCAGATCTGCTCGCTGAGCCCGGAGGTGCTGGGCCCCAGCCCGGAG
GGGGGCGGCTGGCACGTCCACACCTTCCAAGGCCGCTGGGTGCGTGGCTTCAACTCCGGCGGGAGCCAGCCTAATGCTGAAACCTTCTGGACCAATCCTCAGTTC
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>CAPN12|147968|protein
MASSSGRVTIQLVDEEAGVGAGRLQLFRGQSYEAIRAACLDSGILFRDPYFPAGPDALGYDQLGPDSEKAKGVKWMRPHEFCAEPKFICEDMSRTDVCQGSLGNC
WFLAAAASLTLYPRLLRRVVPPGQDFQHGYAGVFHFQLWQFGRWMDVVVDDRLPVREGKLMFVRSEQRNEFWAPLLEKAYAKLHGSYEVMRGGHMNEAFVDFTGG
VGEVLYLRQNSMGLFSALRHALAKESLVGATALSDRGEYRTEEGLVKGHAYSITGTHKVFLGFTKVRLLRLRNPWGCVEWTGAWSDSCPRWDTLPTECRDALLVK
KEDGEFWMELRDFLLHFDTVQICSLSPEVLGPSPEGGGWHVHTFQGRWVRGFNSGGSQPNAETFWTNPQFRLTLLEPDEEDDEDEEGPWGGWGAAGARGPARGGR
TPKCTVLLSLIQRNRRRLRAKGLTYLTVGFHVFQIPEELLGLWDSPRSHALLPRLLRADRSPLSARRDVTRRCCLRPGHYLVVPSTAHAGDEADFTLRVFSERRH
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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 microarrayautism - - - - 105 267 372
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top