AutismKB 2.0

Evidence Details for CLSTN2


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Basic Information Top
Gene Symbol:CLSTN2 ( ALC-GAMMA,CDHR13,CS2,CSTN2,FLJ39113,FLJ39499,MGC119560,alcagamma )
Gene Full Name: calsyntenin 2
Band: 3q23
Quick LinksEntrez ID:64084; OMIM: 611323; Uniprot ID:CSTN2_HUMAN; ENSEMBL ID: ENSG00000158258; HGNC ID: 17448
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CLSTN2|64084|nucleotide
ATGCTGCCTGGGCGGCTGTGCTGGGTGCCGCTCCTGCTGGCGCTGGGCGTGGGGAGCGGCAGCGGCGGTGGCGGGGACAGCCGGCAGCGCCGCCTCCTCGCGGCT
AAAGTCAATAAGCACAAGCCATGGATCGAGACTTCATATCATGGAGTCATAACTGAGAACAATGACACAGTCATTTTGGACCCACCACTGGTAGCCCTGGATAAA
GATGCACCGGTTCCTTTTGCAGGGGAAATCTGTGCGTTCAAGATCCATGGCCAGGAGCTGCCCTTTGAGGCTGTGGTGCTCAACAAGACATCAGGAGAGGGCCGG
CTCCGTGCCAAGAGCCCCATTGACTGTGAGTTGCAGAAGGAGTACACATTCATCATCCAGGCCTATGACTGTGGTGCTGGGCCCCACGAGACAGCCTGGAAAAAG
TCACACAAGGCCGTGGTCCATATACAGGTGAAGGATGTCAACGAGTTTGCTCCCACCTTCAAAGAGCCAGCCTACAAGGCTGTTGTGACGGAGGGCAAGATCTAT
GACAGCATTCTGCAGGTGGAGGCCATTGACGAGGACTGCTCCCCACAGTACAGCCAGATCTGCAACTATGAAATCGTCACCACAGATGTGCCTTTTGCCATCGAC
AGAAATGGCAACATCAGGAACACTGAGAAGCTGAGCTATGACAAACAACACCAGTATGAGATCCTGGTGACCGCCTACGACTGTGGACAGAAGCCCGCTGCTCAG
GACACCCTGGTGCAGGTGGATGTGAAGCCAGTTTGCAAGCCTGGCTGGCAAGACTGGACCAAGAGGATTGAGTACCAGCCTGGCTCCGGGAGCATGCCCCTGTTC
CCCAGCATCCACCTGGAGACGTGCGATGGAGCCGTGTCTTCCCTCCAGATCGTCACAGAGCTGCAGACTAATTACATTGGGAAGGGTTGTGACCGGGAGACCTAC
TCTGAGAAATCCCTTCAAAAGTTATGTGGAGCCTCCTCTGGCATCATTGACCTCTTGCCATCCCCTAGCGCTGCCACCAACTGGACTGCAGGACTGCTGGTGGAC
AGCAGTGAGATGATCTTCAAGTTTGACGGCAGGCAGGGTGCCAAAGTCCCCGATGGGATTGTGCCCAAGAACCTGACCGATCAGTTCACCATCACCATGTGGATG
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>CLSTN2|64084|protein
MLPGRLCWVPLLLALGVGSGSGGGGDSRQRRLLAAKVNKHKPWIETSYHGVITENNDTVILDPPLVALDKDAPVPFAGEICAFKIHGQELPFEAVVLNKTSGEGR
LRAKSPIDCELQKEYTFIIQAYDCGAGPHETAWKKSHKAVVHIQVKDVNEFAPTFKEPAYKAVVTEGKIYDSILQVEAIDEDCSPQYSQICNYEIVTTDVPFAID
RNGNIRNTEKLSYDKQHQYEILVTAYDCGQKPAAQDTLVQVDVKPVCKPGWQDWTKRIEYQPGSGSMPLFPSIHLETCDGAVSSLQIVTELQTNYIGKGCDRETY
SEKSLQKLCGASSGIIDLLPSPSAATNWTAGLLVDSSEMIFKFDGRQGAKVPDGIVPKNLTDQFTITMWMKHGPSPGVRAEKETILCNSDKTEMNRHHYALYVHN
CRLVFLLRKDFDQADTFRPAEFHWKLDQICDKEWHYYVINVEFPVVTLYMDGATYEPYLVTNDWPIHPSHIAMQLTVGACWQGGEVTKPQFAQFFHGSLASLTIR
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top