AutismKB 2.0

Evidence Details for CACNA1E


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Basic Information Top
Gene Symbol:CACNA1E ( BII,CACH6,CACNL1A6,Cav2.3 )
Gene Full Name: calcium channel, voltage-dependent, R type, alpha 1E subunit
Band: 1q25.3
Quick LinksEntrez ID:777; OMIM: 601013; Uniprot ID:CAC1E_HUMAN; ENSEMBL ID: ENSG00000198216; HGNC ID: 1392
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CACNA1E|777|nucleotide
ATGGCTCGCTTCGGGGAGGCGGTGGTCGCCAGGCCAGGGTCCGGCGATGGAGACTCGGACCAGAGCAGGAACCGGCAAGGAACCCCCGTGCCGGCCTCGGGGCAG
GCGGCCGCCTACAAGCAGACGAAAGCACAGAGGGCGCGGACTATGGCTTTGTACAACCCCATTCCCGTCCGGCAGAACTGTTTCACCGTCAACAGATCCCTGTTC
ATCTTCGGAGAAGATAACATTGTCAGGAAATATGCCAAGAAGCTCATCGATTGGCCGCCATTTGAGTACATGATCCTGGCCACCATCATTGCCAACTGCATCGTC
CTGGCCCTGGAGCAGCATCTTCCTGAGGATGACAAGACCCCCATGTCCCGAAGACTGGAGAAGACAGAACCTTATTTCATTGGGATCTTTTGCTTTGAAGCTGGG
ATCAAAATTGTGGCCCTGGGGTTCATCTTCCATAAGGGCTCTTACCTCCGCAATGGCTGGAATGTCATGGACTTCATCGTGGTCCTCAGTGGCATCCTGGCCACT
GCAGGAACCCACTTCAATACTCACGTGGACCTGAGGACCCTCCGGGCTGTGCGTGTCCTGCGGCCTTTGAAGCTCGTGTCAGGGATACCTAGCCTGCAGATTGTG
TTGAAGTCCATCATGAAGGCCATGGTACCTCTTCTGCAGATTGGCCTTCTGCTCTTCTTTGCCATCCTGATGTTTGCTATCATTGGTTTGGAGTTCTACAGTGGC
AAGTTACATCGAGCATGCTTCATGAACAATTCAGGTATTCTAGAAGGATTTGACCCCCCTCACCCATGTGGTGTGCAGGGCTGCCCAGCTGGTTATGAATGCAAG
GACTGGATCGGCCCCAATGATGGGATCACCCAGTTTGATAACATCCTTTTTGCTGTGCTGACTGTCTTCCAGTGCATCACCATGGAAGGGTGGACCACTGTGCTG
TACAATACCAATGATGCCTTAGGAGCCACCTGGAATTGGCTGTACTTCATCCCCCTCATCATCATTGGATCCTTCTTTGTTCTCAACCTAGTCCTGGGAGTGCTT
TCCGGGGAATTTGCCAAAGAGAGAGAGAGAGTGGAGAACCGAAGGGCTTTCATGAAGCTGCGGCGCCAGCAGCAGATTGAGCGTGAGCTGAATGGCTACCGTGCC
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>CACNA1E|777|protein
MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIV
LALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIV
LKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVL
YNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRT
EAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSL
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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 (5) 0 (0) 0 (0) 0 (0) 10 (6)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top