AutismKB 2.0

Evidence Details for CAMK1D


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Basic Information Top
Gene Symbol:CAMK1D ( CKLiK,CaM-K1,CaMKID )
Gene Full Name: calcium/calmodulin-dependent protein kinase ID
Band: 10p13
Quick LinksEntrez ID:57118; OMIM: 607957; Uniprot ID:KCC1D_HUMAN; ENSEMBL ID: ENSG00000183049; HGNC ID: 19341
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CAMK1D|57118|nucleotide
ATGGCCCGGGAGAACGGCGAGAGCAGCTCCTCCTGGAAAAAGCAAGCTGAAGACATCAAGAAGATCTTCGAGTTCAAAGAGACCCTCGGAACCGGGGCCTTTTCC
GAAGTGGTTTTAGCTGAAGAGAAGGCAACTGGCAAGCTCTTTGCTGTGAAGTGTATCCCTAAGAAGGCGCTGAAGGGCAAGGAAAGCAGCATAGAGAATGAGATA
GCCGTCCTGAGAAAGATTAAGCATGAAAATATTGTTGCCCTGGAAGACATTTATGAAAGCCCAAATCACCTGTACTTGGTCATGCAGCTGGTGTCCGGTGGAGAG
CTGTTTGACCGGATAGTGGAGAAGGGGTTTTATACAGAGAAGGATGCCAGCACTCTGATCCGCCAAGTCTTGGACGCCGTGTACTATCTCCACAGAATGGGCATC
GTCCACAGAGACCTCAAGCCCGAAAATCTCTTGTACTACAGTCAAGATGAGGAGTCCAAAATAATGATCAGTGACTTTGGATTGTCAAAAATGGAGGGCAAAGGA
GATGTGATGTCCACTGCCTGTGGAACTCCAGGCTATGTCGCTCCTGAAGTCCTCGCCCAGAAACCTTACAGCAAAGCCGTTGACTGCTGGTCCATCGGAGTGATT
GCCTACATCTTGCTCTGCGGCTACCCTCCTTTTTATGATGAAAATGACTCCAAGCTCTTTGAGCAGATCCTCAAGGCGGAATATGAGTTTGACTCTCCCTACTGG
GATGACATCTCCGACTCTGCAAAAGACTTCATTCGGAACCTGATGGAGAAGGACCCGAATAAAAGATACACGTGTGAGCAGGCAGCTCGGCACCCATGGATCGCT
GGTGACACAGCCCTCAACAAAAACATCCACGAGTCCGTCAGCGCCCAGATCCGGAAAAACTTTGCCAAGAGCAAATGGAGACAAGCATTTAATGCCACGGCCGTC
GTCAGACATATGAGAAAACTACACCTCGGCAGCAGCCTGGACAGTTCAAATGCAAGTGTTTCGAGCAGCCTCAGTTTGGCCAGCCAAAAAGACTGTGCGTATGTA
GCAAAACCAGAATCCCTCAGCTGA
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>CAMK1D|57118|protein
MARENGESSSSWKKQAEDIKKIFEFKETLGTGAFSEVVLAEEKATGKLFAVKCIPKKALKGKESSIENEIAVLRKIKHENIVALEDIYESPNHLYLVMQLVSGGE
LFDRIVEKGFYTEKDASTLIRQVLDAVYYLHRMGIVHRDLKPENLLYYSQDEESKIMISDFGLSKMEGKGDVMSTACGTPGYVAPEVLAQKPYSKAVDCWSIGVI
AYILLCGYPPFYDENDSKLFEQILKAEYEFDSPYWDDISDSAKDFIRNLMEKDPNKRYTCEQAARHPWIAGDTALNKNIHESVSAQIRKNFAKSKWRQAFNATAV
VRHMRKLHLGSSLDSSNASVSSSLSLASQKDCAYVAKPESLS

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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 (1) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 10 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top