AutismKB 2.0

Evidence Details for CLN3


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Basic Information Top
Gene Symbol:CLN3 ( BTS,JNCL,MGC102840 )
Gene Full Name: ceroid-lipofuscinosis, neuronal 3
Band: 16p12.1
Quick LinksEntrez ID:1201; OMIM: 607042; Uniprot ID:CLN3_HUMAN; ENSEMBL ID: ENSG00000188603; HGNC ID: 2074
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CLN3|1201|nucleotide
ATGGGAGGCTGTGCAGGCTCGCGGCGGCGCTTTTCGGATTCCGAGGGGGAGGAGACCGTCCCGGAGCCCCGGCTCCCTCTGTTGGACCATCAGGGCGCGCATTGG
AAGAACGCGGTGGGCTTCTGGCTGCTGGGCCTTTGCAACAACTTCTCTTATGTGGTGATGCTGAGTGCCGCCCACGACATCCTTAGCCACAAGAGGACATCGGGA
AACCAGAGCCATGTGGACCCAGGCCCAACGCCGATCCCCCACAACAGCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCTGCTGTGCTCCTGGCGGACATC
CTCCCCACACTCGTCATCAAATTGTTGGCTCCTCTTGGCCTTCACCTGCTGCCCTACAGCCCCCGGGTTCTCGTCAGTGGGATTTGTGCTGCTGGAAGCTTCGTC
CTGGTTGCCTTTTCTCATTCTGTGGGGACCAGCCTGTGTGGTGTGGTCTTCGCTAGCATCTCATCAGGCCTTGGGGAGGTCACCTTCCTCTCCCTCACTGCCTTC
TACCCCAGGGCCGTGATCTCCTGGTGGTCCTCAGGGACTGGGGGAGCTGGGCTGCTGGGGGCCCTGTCCTACCTGGGCCTCACCCAGGCCGGCCTCTCCCCTCAG
CAGACCCTGCTGTCCATGCTGGGTATCCCTGCCCTGCTGCTGGCCAGCTATTTCTTGTTGCTCACATCTCCTGAGGCCCAGGACCCTGGAGGGGAAGAAGAAGCA
GAGAGCGCAGCCCGGCAGCCCCTCATAAGAACCGAGGCCCCGGAGTCGAAGCCAGGCTCCAGCTCCAGCCTCTCCCTTCGGGAAAGGTGGACAGTGTTCAAGGGT
CTGCTGTGGTACATTGTTCCCTTGGTCGTAGTTTACTTTGCCGAGTATTTCATTAACCAGGGACTTTTTGAACTCCTCTTTTTCTGGAACACTTCCCTGAGTCAC
GCTCAGCAATACCGCTGGTACCAGATGCTGTACCAGGCTGGCGTCTTTGCCTCCCGCTCTTCTCTCCGCTGCTGTCGCATCCGTTTCACCTGGGCCCTGGCCCTG
CTGCAGTGCCTCAACCTGGTGTTCCTGCTGGCAGACGTGTGGTTCGGCTTTCTGCCAAGCATCTACCTCGTCTTCCTGATCATTCTGTATGAGGGGCTCCTGGGA
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>CLN3|1201|protein
MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADI
LPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQ
QTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSH
AQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGI
SLSGLLALPLHDFLCQLS
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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) 2 (5) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (5)
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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Okamoto N, 2014 Japanese ---autism - - - - 2 - 2
Linkage Studies Top