AutismKB 2.0

Evidence Details for CASKIN1


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Basic Information Top
Gene Symbol:CASKIN1 ( ANKS5A )
Gene Full Name: CASK interacting protein 1
Band: 16p13.3
Quick LinksEntrez ID:57524; OMIM: 612184; Uniprot ID:CSKI1_HUMAN; ENSEMBL ID: ENSG00000167971; HGNC ID: 20879
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CASKIN1|57524|nucleotide
ATGGGGAAGGAGCAGGAGCTGGTGCAGGCGGTGAAGGCGGAGGACGTAGGGACCGCGCAGAGGCTGCTGCAGAGGCCGCGGCCCGGGAAGGCCAAGCTCCTGGGT
TCCACCAAGAAGATCAATGTCAACTTCCAGGACCCGGATGGCTTCTCGGCTCTGCACCATGCGGCCCTGAACGGCAACACGGAATTGATCAGCCTGCTGCTGGAG
GCCCAGGCCGCTGTGGACATCAAGGACAACAAAGGCATGCGGCCGCTGCACTATGCGGCCTGGCAGGGCCGGAAGGAGCCCATGAAGCTGGTGCTGAAGGCGGGC
TCGGCCGTGAACATCCCGTCTGATGAGGGCCACATCCCCCTGCACCTGGCGGCCCAGCATGGTCACTATGATGTGTCTGAGATGCTGCTACAGCACCAGTCTAAC
CCGTGCATGGTGGACAACTCGGGGAAGACGCCCCTGGACCTGGCCTGCGAGTTCGGCCGCGTTGGGGTGGTCCAGCTGCTCCTCAGCAGCAATATGTGTGCGGCG
CTGCTGGAGCCCCGGCCGGGAGACGCCACCGACCCCAACGGCACCAGCCCTTTGCACCTCGCAGCTAAAAACGGCCACATCGACATCATCAGGCTCCTCCTCCAA
GCCGGCATCGACATTAACCGCCAGACCAAGTCCGGCACGGCCCTGCACGAGGCTGCGCTCTGCGGAAAGACAGAGGTGGTGCGGCTGCTGCTGGATAGCGGGATC
AATGCCCACGTGAGGAACACCTACAGCCAGACAGCCCTGGACATCGTGCACCAGTTCACCACGTCCCAGGCCAGCAGGGAGATCAAGCAGCTGTTGCGAGAGGCC
TCAGCGGCCCTGCAGGTCCGGGCGACCAAGGATTATTGCAACAATTACGACCTGACCAGCCTCAACGTGAAGGCAGGGGACATCATCACAGTCCTCGAGCAGCAT
CCGGATGGCCGGTGGAAGGGCTGCATCCATGACAACCGGACGGGCAATGACCGGGTGGGCTACTTCCCGTCCTCCCTGGGCGAGGCCATTGTCAAGCGAGCAGGT
TCCCGAGCAGGCACTGAACCAAGCCTGCCCCAGGGAAGCAGCTCATCGGGACCCTCTGCACCCCCAGAGGAGATCTGGGTGCTGAGGAAGCCTTTTGCAGGTGGG
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>CASKIN1|57524|protein
MGKEQELVQAVKAEDVGTAQRLLQRPRPGKAKLLGSTKKINVNFQDPDGFSALHHAALNGNTELISLLLEAQAAVDIKDNKGMRPLHYAAWQGRKEPMKLVLKAG
SAVNIPSDEGHIPLHLAAQHGHYDVSEMLLQHQSNPCMVDNSGKTPLDLACEFGRVGVVQLLLSSNMCAALLEPRPGDATDPNGTSPLHLAAKNGHIDIIRLLLQ
AGIDINRQTKSGTALHEAALCGKTEVVRLLLDSGINAHVRNTYSQTALDIVHQFTTSQASREIKQLLREASAALQVRATKDYCNNYDLTSLNVKAGDIITVLEQH
PDGRWKGCIHDNRTGNDRVGYFPSSLGEAIVKRAGSRAGTEPSLPQGSSSSGPSAPPEEIWVLRKPFAGGDRSGSISGMAGGRGSGGHALHAGSEGVKLLATVLS
QKSVSESGPGDSPAKPPEGSAGVARSQPPVAHAGQVYGEQPPKKLEPASEGKSSEAVSQWLTAFQLQLYAPNFISAGYDLPTISRMTPEDLTAIGVTKPGHRKKI
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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) 1 (1) 1 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (4)
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
Gazzellone MJ, 2014 China -- - - - - 104 2108 2212
Linkage Studies Top