AutismKB 2.0

Evidence Details for ATG4B


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Basic Information Top
Gene Symbol:ATG4B ( APG4B,AUTL1,MGC1353 )
Gene Full Name: ATG4 autophagy related 4 homolog B (S. cerevisiae)
Band: 2q37.3
Quick LinksEntrez ID:23192; OMIM: 611338; Uniprot ID:ATG4B_HUMAN; ENSEMBL ID: ENSG00000168397; HGNC ID: 20790
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATG4B|23192|nucleotide
ATGGACGCAGCTACTCTGACCTACGACACTCTCCGGTTTGCTGAGTTTGAAGATTTTCCTGAGACCTCAGAGCCCGTTTGGATACTGGGTAGAAAATACAGCATT
TTCACAGAAAAGGACGAGATCTTGTCTGATGTGGCATCTAGACTTTGGTTTACATACAGGAAAAACTTTCCAGCCATTGGGGGGACAGGCCCCACCTCGGACACA
GGCTGGGGCTGCATGCTGCGGTGTGGACAGATGATCTTTGCCCAAGCCCTGGTGTGCCGGCACCTAGGCCGAGATTGGAGGTGGACACAAAGGAAGAGGCAGCCA
GACAGCTACTTCAGCGTCCTCAACGCATTCATCGACAGGAAGGACAGTTACTACTCCATTCACCAGATAGCGCAAATGGGAGTTGGCGAAGGCAAGTCCATAGGC
CAGTGGTACGGGCCCAACACTGTCGCCCAGGTCCTGAAGAAGCTTGCTGTCTTCGATACGTGGAGCTCCTTGGCGGTCCACATTGCAATGGACAACACTGTTGTG
ATGGAGGAAATCAGAAGGTTGTGCAGGACCAGCGTTCCCTGTGCAGGCGCCACTGCGTTTCCTGCAGATTCCGACCGGCACTGCAACGGATTCCCTGCCGGAGCT
GAGGTCACCAACAGGCCGTCGCCATGGAGACCCCTGGTACTTCTCATTCCCCTGCGCCTGGGGCTCACGGACATCAACGAGGCCTACGTGGAGACGCTGAAGCAC
TGCTTCATGATGCCCCAGTCCCTGGGCGTCATCGGAGGGAAGCCCAACAGCGCCCACTACTTCATCGGCTACGTTGGTGAGGAGCTCATCTACCTGGACCCCCAC
ACCACGCAGCCAGCCGTGGAGCCCACTGATGGCTGCTTCATCCCGGACGAGAGCTTCCACTGCCAGCACCCGCCGTGCCGCATGAGCATCGCGGAGCTTGACCCG
TCCATCGCTGTGGGGTTTTTCTGTAAGACTGAAGATGACTTCAATGATTGGTGCCAGCAAGTCAAAAAGCTGTCTCTGCTTGGAGGTGCCCTGCCCATGTTTGAG
CTGGTGGAGCTGCAGCCTTCACATCTGGCCTGCCCCGACGTCCTGAACCTGTCCCTAGATTCTTCTGATGTAGAGCGACTGGAAAGATTCTTCGACTCAGAAGAT
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>ATG4B|23192|protein
MDAATLTYDTLRFAEFEDFPETSEPVWILGRKYSIFTEKDEILSDVASRLWFTYRKNFPAIGGTGPTSDTGWGCMLRCGQMIFAQALVCRHLGRDWRWTQRKRQP
DSYFSVLNAFIDRKDSYYSIHQIAQMGVGEGKSIGQWYGPNTVAQVLKKLAVFDTWSSLAVHIAMDNTVVMEEIRRLCRTSVPCAGATAFPADSDRHCNGFPAGA
EVTNRPSPWRPLVLLIPLRLGLTDINEAYVETLKHCFMMPQSLGVIGGKPNSAHYFIGYVGEELIYLDPHTTQPAVEPTDGCFIPDESFHCQHPPCRMSIAELDP
SIAVGFFCKTEDDFNDWCQQVKKLSLLGGALPMFELVELQPSHLACPDVLNLSLDSSDVERLERFFDSEDEDFEILSL

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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2)
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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top