AutismKB 2.0

Evidence Details for AP1G1


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Basic Information Top
Gene Symbol:AP1G1 ( ADTG,CLAPG1,MGC18255 )
Gene Full Name: adaptor-related protein complex 1, gamma 1 subunit
Band: 16q22.2
Quick LinksEntrez ID:164; OMIM: 603533; Uniprot ID:AP1G1_HUMAN; ENSEMBL ID: ENSG00000166747; HGNC ID: 555
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AP1G1|164|nucleotide
ATGCCAGCCCCCATCAGATTGCGGGAGCTGATCCGGACCATCCGGACAGCCCGAACCCAAGCTGAAGAACGAGAAATGATCCAGAAAGAATGTGCTGCAATCCGG
TCATCTTTTAGAGAAGAAGACAATACATACCGATGTCGGAATGTGGCAAAATTACTGTATATGCACATGCTGGGCTACCCTGCTCACTTTGGACAGTTGGAGTGC
CTCAAGCTTATTGCCTCTCAAAAATTTACAGACAAACGCATTGGCTATTTAGGGGCAATGCTGCTGTTAGATGAAAGACAAGATGTCCATCTTCTCATGACCAAC
TGTATCAAGAATGATCTTAATCATAGCACGCAATTCGTACAGGGGTTAGCACTTTGTACCCTCGGCTGCATGGGCTCCTCAGAGATGTGCAGAGATCTTGCAGGA
GAGGTAGAGAAGCTCCTGAAAACCTCCAACTCTTACTTAAGAAAAAAGGCAGCACTGTGTGCTGTTCATGTCATCAGGAAAGTTCCTGAACTTATGGAGATGTTT
TTACCAGCAACAAAAAATTTATTGAATGAGAAGAACCATGGTGTCCTCCACACATCTGTAGTCCTCCTCACAGAAATGTGTGAGCGAAGCCCAGACATGCTTGCG
CATTTCAGAAAGAATGAAAAGCTTGTGCCCCAATTAGTTCGTATTTTAAAGAACCTCATCATGTCCGGATATTCACCAGAACATGATGTTTCTGGTATCAGTGAC
CCCTTTTTGCAGGTACGAATTTTGCGGTTATTAAGAATTTTAGGACGAAATGATGATGATTCAAGTGAAGCTATGAATGATATATTAGCACAGGTTGCCACTAAT
ACTGAGACTAGTAAAAATGTAGGAAATGCTATTCTTTATGAAACGGTTTTGACTATCATGGATATTAAGTCAGAGAGTGGATTGCGAGTCCTAGCCATAAATATC
CTGGGTCGTTTCTTATTGAACAATGACAAGAATATTAGATATGTGGCTCTGACATCTTTGTTGAAGACTGTACAGACAGATCATAATGCAGTACAGAGGCACAGA
AGCACAATTGTGGACTGTCTTAAAGATTTGGATGTCTCAATAAAACGGCGTGCAATGGAATTGAGTTTTGCCCTGGTAAATGGGAATAATATCCGAGGCATGATG
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>AP1G1|164|protein
MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTN
CIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKAALCAVHVIRKVPELMEMFLPATKNLLNEKNHGVLHTSVVLLTEMCERSPDMLA
HFRKNEKLVPQLVRILKNLIMSGYSPEHDVSGISDPFLQVRILRLLRILGRNDDDSSEAMNDILAQVATNTETSKNVGNAILYETVLTIMDIKSESGLRVLAINI
LGRFLLNNDKNIRYVALTSLLKTVQTDHNAVQRHRSTIVDCLKDLDVSIKRRAMELSFALVNGNNIRGMMKELLYFLDSCEPEFKADCASGIFLAAEKYAPSKRW
HIDTIMRVLTTAGSYVRDDAVPNLIQLITNSVEMHAYTVQRLYKAILGDYSQQPLVQVAAWCIGEYGDLLVSGQCEEEEPIQVTEDEVLDILESVLISNMSTSVT
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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) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top