AutismKB 2.0

Evidence Details for AGBL4


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Basic Information Top
Gene Symbol:AGBL4 ( CCP6,FLJ14442 )
Gene Full Name: ATP/GTP binding protein-like 4
Band: 1p33
Quick LinksEntrez ID:84871; OMIM: NA; Uniprot ID:CBPC6_HUMAN; ENSEMBL ID: ENSG00000186094; HGNC ID: 25892
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AGBL4|84871|nucleotide
ATGGCGGAGGGGAGCCAGTCGGCGCCTGAGGCAGGCAATGATATGGGAAATGATGATGCCATTGGAGGGAATGTGAGCAAATATATAGTGCTTCCAACTGGCTAT
TGTGGACAGCCCAAGAAAGGACATCTTATCTTTGATGCTTGCTTTGAAAGTGGTAACCTGGGCCGGGTGGACCAGGTCTCTGAGTTTGAGTATGATCTGTTCATT
AGGCCGGACACCTGTAATCCACGCTTCCGAGTCTGGTTCAACTTTACTGTTGAAAATGTGAAAGAATCACAGAGGGTCATTTTCAACATTGTTAACTTCAGTAAA
ACCAAGAGTCTCTATAGAGATGGGATGGCCCCTATGGTGAAATCTACCAGCAGACCAAAATGGCAAAGGCTGCCACCCAAAAATGTTTACTACTACCGCTGCCCG
GACCATAGGAAGAACTATGTGATGTCCTTTGCCTTTTGTTTTGACCGAGAAGAAGATATTTACCAGTTTGCTTACTGCTACCCATATACATACACTCGCTTCCAA
CATTACCTTGACAGCCTGCAAAAGAGAAACATGGATTACTTCTTTCGGGAGCAGCTGGGCCAGAGTGTGCAACAACGAAAGCTTGACCTCCTGACGATAACCAGC
CCTGACAATCTCCGGGAAGGGGCAGAGCAGAAGGTGGTATTCATCACAGGACGAGTCCACCCAGGGGAAACACCCTCATCATTTGTGTGCCAAGGGATCATTGAC
TTCCTTGTAAGCCAGCACCCTATTGCCTGTGTCCTCCGGGAATACCTGGTCTTCAAGATCGCACCAATGCTCAATCCTGATGGAGTCTACCTGGGCAATTACAGG
TGTTCTCTGATGGGATTTGATCTGAATCGTCACTGGCTGGATCCCTCTCCATGGGTCCATCCTACCCTGCATGGAGTGAAACAACTCATCGTCCAGATGTACAAC
GACCCAAAAACAAGCCTGGAGTTTTATATTGACATCCATGCCCACTCCACCATGATGAATGGCTTCATGTATGGCAACATCTTTGAGGATGAGGAACGGTTCCAG
AGGCAGGCCATTTTTCCCAAGCTCCTCTGCCAGAATGCTGAGGACTTCTCCTATTCCAGCACATCCTTTAACCGGGACGCTGTGAAAGCAGGAACTGGCCGTCGC
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>AGBL4|84871|protein
MAEGSQSAPEAGNDMGNDDAIGGNVSKYIVLPTGYCGQPKKGHLIFDACFESGNLGRVDQVSEFEYDLFIRPDTCNPRFRVWFNFTVENVKESQRVIFNIVNFSK
TKSLYRDGMAPMVKSTSRPKWQRLPPKNVYYYRCPDHRKNYVMSFAFCFDREEDIYQFAYCYPYTYTRFQHYLDSLQKRNMDYFFREQLGQSVQQRKLDLLTITS
PDNLREGAEQKVVFITGRVHPGETPSSFVCQGIIDFLVSQHPIACVLREYLVFKIAPMLNPDGVYLGNYRCSLMGFDLNRHWLDPSPWVHPTLHGVKQLIVQMYN
DPKTSLEFYIDIHAHSTMMNGFMYGNIFEDEERFQRQAIFPKLLCQNAEDFSYSSTSFNRDAVKAGTGRRFLGGLLDHTSYCYTLEVSFYSYIISGTTAAVPYTE
EAYMKLGRNVARTFLDYYRLNPVVEKVAIPMPRLRNKEIEVQRRKEKSPPYKHPLLRGPASNYPNSKGDKKSSVNHKDPSTPF
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Bremer, 2011 - aCGHASD - - - - 223 - 223
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top