AutismKB 2.0

Evidence Details for CACNA1I


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Basic Information Top
Gene Symbol:CACNA1I ( Cav3.3,KIAA1120 )
Gene Full Name: calcium channel, voltage-dependent, T type, alpha 1I subunit
Band: 22q13.1
Quick LinksEntrez ID:8911; OMIM: 608230; Uniprot ID:CAC1I_HUMAN; ENSEMBL ID: ENSG00000100346; HGNC ID: 1396
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CACNA1I|8911|nucleotide
ATGGCTGAGAGCGCCTCCCCGCCCTCCTCATCTGCAGCAGCCCCAGCCGCTGAGCCAGGAGTCACCACGGAGCAGCCCGGACCCCGGAGCCCCCCATCCTCCCCG
CCAGGCCTGGAGGAGCCTCTGGATGGAGCTGATCCTCATGTCCCACACCCAGACCTGGCGCCTATTGCCTTCTTCTGCCTGCGACAGACCACCAGCCCCCGGAAC
TGGTGCATCAAGATGGTGTGCAACCCGTGGTTTGAATGTGTCAGCATGCTGGTGATCCTGCTGAACTGCGTGACACTTGGCATGTACCAGCCGTGCGACGACATG
GACTGCCTGTCCGACCGCTGCAAGATCCTGCAGGTCTTTGATGACTTCATCTTTATCTTCTTTGCCATGGAGATGGTGCTCAAGATGGTGGCCCTGGGGATTTTT
GGCAAGAAGTGCTACCTCGGGGACACATGGAACCGCCTGGATTTCTTCATCGTCATGGCAGGGATGGTCGAGTACTCCCTGGACCTTCAGAACATCAACCTGTCA
GCCATCCGCACCGTGCGCGTCCTGAGGCCCCTCAAAGCCATCAACCGCGTGCCCAGTATGCGGATCCTGGTGAACCTGCTCCTGGACACACTGCCCATGCTGGGG
AATGTCCTGCTGCTCTGCTTCTTTGTCTTCTTCATCTTTGGCATCATAGGTGTGCAGCTCTGGGCGGGCCTGCTGCGTAACCGCTGCTTCCTGGAGGAGAACTTC
ACCATACAAGGGGATGTGGCCTTGCCCCCATACTACCAGCCGGAGGAGGATGATGAGATGCCCTTCATCTGCTCCCTGTCGGGCGACAATGGGATAATGGGCTGC
CATGAGATCCCCCCGCTCAAGGAGCAGGGCCGTGAGTGCTGCCTGTCCAAGGACGACGTCTACGACTTTGGGGCGGGGCGCCAGGACCTCAATGCCAGCGGCCTC
TGTGTCAACTGGAACCGTTACTACAATGTGTGCCGCACGGGCAGCGCCAACCCCCACAAGGGTGCCATCAACTTTGACAACATCGGTTATGCTTGGATTGTCATC
TTCCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTGGGC
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>CACNA1I|8911|protein
MAESASPPSSSAAAPAAEPGVTTEQPGPRSPPSSPPGLEEPLDGADPHVPHPDLAPIAFFCLRQTTSPRNWCIKMVCNPWFECVSMLVILLNCVTLGMYQPCDDM
DCLSDRCKILQVFDDFIFIFFAMEMVLKMVALGIFGKKCYLGDTWNRLDFFIVMAGMVEYSLDLQNINLSAIRTVRVLRPLKAINRVPSMRILVNLLLDTLPMLG
NVLLLCFFVFFIFGIIGVQLWAGLLRNRCFLEENFTIQGDVALPPYYQPEEDDEMPFICSLSGDNGIMGCHEIPPLKEQGRECCLSKDDVYDFGAGRQDLNASGL
CVNWNRYYNVCRTGSANPHKGAINFDNIGYAWIVIFQVITLEGWVEIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQREHRLMLEQRQRYL
SSSTVASYAEPGDCYEEIFQYVCHILRKAKRRALGLYQALQSRRQALGPEAPAPAKPGPHAKEPRHYQLCPQHSPLDATPHTLVQPIPATLASDPASCPCCQHED
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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 1 (1) 1 (2) 0 (0) 0 (0) 0 (0) 1 (2) 0 (1) 0 (0) 0 (0) 16 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top