AutismKB 2.0

Evidence Details for CAMK2A


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Basic Information Top
Gene Symbol:CAMK2A ( CAMKA,KIAA0968 )
Gene Full Name: calcium/calmodulin-dependent protein kinase II alpha
Band: 5q32
Quick LinksEntrez ID:815; OMIM: 114078; Uniprot ID:KCC2A_HUMAN; ENSEMBL ID: ENSG00000070808; HGNC ID: 1460
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CAMK2A|815|nucleotide
ATGGCCACCATCACCTGCACCCGCTTCACGGAAGAGTACCAGCTCTTCGAGGAATTGGGCAAGGGAGCCTTCTCGGTGGTGCGAAGGTGTGTGAAGGTGCTGGCT
GGCCAGGAGTATGCTGCCAAGATCATCAACACAAAGAAGCTGTCAGCCAGAGACCATCAGAAGCTGGAGCGTGAAGCCCGCATCTGCCGCCTGCTGAAGCACCCC
AACATCGTCCGACTACATGACAGCATCTCAGAGGAGGGACACCACTACCTGATCTTCGACCTGGTCACTGGTGGGGAACTGTTTGAAGATATCGTGGCCCGGGAG
TATTACAGTGAGGCGGATGCCAGTCACTGTATCCAGCAGATCCTGGAGGCTGTGCTGCACTGCCACCAGATGGGGGTGGTGCACCGGGACCTGAAGCCTGAGAAT
CTGTTGCTGGCCTCCAAGCTCAAGGGTGCCGCAGTGAAGCTGGCAGACTTTGGCCTGGCCATAGAGGTGGAGGGGGAGCAGCAGGCATGGTTTGGGTTTGCAGGG
ACTCCTGGATATCTCTCCCCAGAAGTGCTGCGGAAGGACCCGTACGGGAAGCCTGTGGACCTGTGGGCTTGTGGGGTCATCCTGTACATCCTGCTGGTTGGGTAC
CCCCCGTTCTGGGATGAGGACCAGCACCGCCTGTACCAGCAGATCAAAGCCGGCGCCTATGATTTCCCATCGCCGGAATGGGACACTGTCACCCCGGAAGCCAAG
GATCTGATCAATAAGATGCTGACCATTAACCCATCCAAACGCATCACAGCTGCCGAAGCCCTTAAGCACCCCTGGATCTCGCACCGCTCCACCGTGGCATCCTGC
ATGCACAGACAGGAGACCGTGGACTGCCTGAAGAAGTTCAATGCCAGGAGGAAACTGAAGGGAGCCATTCTCACCACGATGCTGGCCACCAGGAACTTCTCCGGA
GGGAAGAGTGGGGGAAACAAGAAGAGCGATGGTGTGAAGAAAAGAAAGTCCAGTTCCAGCGTTCAGTTAATGGAATCCTCAGAGAGCACCAACACCACCATCGAG
GATGAAGACACCAAAGTGCGGAAACAGGAAATTATAAAAGTGACAGAGCAGCTGATTGAAGCCATAAGCAATGGAGATTTTGAGTCCTACACGAAGATGTGCGAC
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>CAMK2A|815|protein
MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVRLHDSISEEGHHYLIFDLVTGGELFEDIVARE
YYSEADASHCIQQILEAVLHCHQMGVVHRDLKPENLLLASKLKGAAVKLADFGLAIEVEGEQQAWFGFAGTPGYLSPEVLRKDPYGKPVDLWACGVILYILLVGY
PPFWDEDQHRLYQQIKAGAYDFPSPEWDTVTPEAKDLINKMLTINPSKRITAAEALKHPWISHRSTVASCMHRQETVDCLKKFNARRKLKGAILTTMLATRNFSG
GKSGGNKKSDGVKKRKSSSSVQLMESSESTNTTIEDEDTKVRKQEIIKVTEQLIEAISNGDFESYTKMCDPGMTAFEPEALGNLVEGLDFHRFYFENLWSRNSKP
VHTTILNPHIHLMGDESACIAYIRITQYLDAGGIPRTAQSEETRVWHRRDGKWQIVHFHRSGAPSVLPH
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top