AutismKB 2.0

Evidence Details for CDC42BPA


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Basic Information Top
Gene Symbol:CDC42BPA ( DKFZp686L1738,DKFZp686P1738,FLJ23347,KIAA0451,MRCK,MRCKA,PK428 )
Gene Full Name: CDC42 binding protein kinase alpha (DMPK-like)
Band: 1q42.13
Quick LinksEntrez ID:8476; OMIM: 603412; Uniprot ID:MRCKA_HUMAN; ENSEMBL ID: ENSG00000143776; HGNC ID: 1737
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDC42BPA|8476|nucleotide
ATGTCTGGAGAAGTGCGTTTGAGGCAGTTGGAGCAGTTTATTTTGGACGGGCCCGCTCAGACCAATGGGCAGTGCTTCAGTGTGGAGACATTACTGGATATACTC
ATCTGCCTTTATGATGAATGCAATAATTCTCCATTGAGAAGAGAGAAGAACATTCTCGAATACCTAGAATGGGCTAAACCATTTACTTCTAAAGTGAAACAAATG
CGATTACATAGAGAAGACTTTGAAATATTAAAGGTGATTGGTCGAGGAGCTTTTGGGGAGGTTGCTGTAGTAAAACTAAAAAATGCAGATAAAGTGTTTGCCATG
AAAATATTGAATAAATGGGAAATGCTGAAAAGAGCTGAGACAGCATGTTTTCGTGAAGAAAGGGATGTATTAGTGAATGGAGACAATAAATGGATTACAACCTTG
CACTATGCTTTCCAGGATGACAATAACTTATACCTGGTTATGGATTATTATGTTGGTGGGGATTTGCTTACTCTACTCAGCAAATTTGAAGATAGATTGCCTGAA
GATATGGCTAGATTTTACTTGGCTGAGATGGTGATAGCAATTGACTCAGTTCATCAGCTACATTATGTACACAGAGACATTAAACCTGACAATATACTGATGGAT
ATGAATGGACATATTCGGTTAGCAGATTTTGGTTCTTGTCTGAAGCTGATGGAAGATGGAACGGTTCAGTCCTCAGTGGCTGTAGGAACTCCAGATTATATCTCT
CCTGAAATCCTTCAAGCCATGGAAGATGGAAAAGGGAGATATGGACCTGAATGTGACTGGTGGTCTTTGGGGGTCTGTATGTATGAAATGCTTTACGGAGAAACA
CCATTTTATGCAGAATCGCTGGTGGAGACATACGGAAAAATCATGAACCACAAAGAGAGGTTTCAGTTTCCAGCCCAAGTGACTGATGTGTCTGAAAATGCTAAG
GATCTTATTCGAAGGCTCATTTGTAGCAGAGAACATCGACTTGGTCAAAATGGAATAGAAGACTTTAAGAAACACCCATTTTTCAGTGGAATTGATTGGGATAAT
ATTCGGAACTGTGAAGCACCTTATATTCCAGAAGTTAGTAGCCCAACAGATACATCGAATTTTGATGTAGATGATGATTGTTTAAAAAATTCTGAAACGATGCCC
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>CDC42BPA|8476|protein
MSGEVRLRQLEQFILDGPAQTNGQCFSVETLLDILICLYDECNNSPLRREKNILEYLEWAKPFTSKVKQMRLHREDFEILKVIGRGAFGEVAVVKLKNADKVFAM
KILNKWEMLKRAETACFREERDVLVNGDNKWITTLHYAFQDDNNLYLVMDYYVGGDLLTLLSKFEDRLPEDMARFYLAEMVIAIDSVHQLHYVHRDIKPDNILMD
MNGHIRLADFGSCLKLMEDGTVQSSVAVGTPDYISPEILQAMEDGKGRYGPECDWWSLGVCMYEMLYGETPFYAESLVETYGKIMNHKERFQFPAQVTDVSENAK
DLIRRLICSREHRLGQNGIEDFKKHPFFSGIDWDNIRNCEAPYIPEVSSPTDTSNFDVDDDCLKNSETMPPPTHTAFSGHHLPFVGFTYTSSCVLSDRSCLRVTA
GPTSLDLDVNVQRTLDNNLATEAYERRIKRLEQEKLELSRKLQESTQTVQALQYSTVDGPLTASKDLEIKNLKEEIEKLRKQVTESSHLEQQLEEANAVRQELDD
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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) 1 (1) 0 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top