AutismKB 2.0

Evidence Details for AGBL2


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Basic Information Top
Gene Symbol:AGBL2 ( FLJ23598 )
Gene Full Name: ATP/GTP binding protein-like 2
Band: 11p11.2
Quick LinksEntrez ID:79841; OMIM: NA; Uniprot ID:CBPC2_HUMAN; ENSEMBL ID: ENSG00000165923; HGNC ID: 26296
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AGBL2|79841|nucleotide
ATGTTCCCAGCTTTGGAAACGCACCTAAAGCAGACTATTCCTGATCCTTATGAAGACTTTATGTACCGTCACCTCCAATATTATGGCTACTTTAAAGCTCAGAGA
GGCAGTTTACCAAACTCTGCTACGCATCAGCATGTTCGGAAGAATAACCCTCAATGCCTGTTGAATGGCTCTCTTGGGGAAAAAGATGATTTGATACCAGACACC
CTGCAAAAGGAGAAGCTTCTATGGCCTATCAGTTTATCTTCAGCTGTGCACAGACAGATAGAAGCCATCAACAGAGACTTTCACTCTTGCCTGGGCTGGATGCAG
TGGCGCGGCCTCAGCTCACTGCAACCTCCACCTCCCAGATTCAAGGATTCTCCTGCCTCAGCTTTCCGAGTAGCTGGGATTACAGATTCACATATGCTGAGTTTA
CCACATCTTAGGAGCAGACAGCTTCTTTATGATGAGTTGGATGAAGTAAACCCACGTCTTCGAGAACCCCAAGAGCTCTTTTCCATTTTGTCTACCAAGAGGCCA
CTGCAGGCTCCAAGATGGCCAATTGAATGTGAGGTCATCAAGGAAAACATCCATCATATTGAGTGGGCTCCACCTCAACCAGAATATTTCTATCAGCCTAAAGGA
AATGAAAAGGTACCAGAGATTGTAGGAGAGAAAAAAGGAACAGTTGTCTATCAATTAGATTCAGTGCCTATAGAAGGTTCCTATTTTACCAGTTCCAGAGTGGGA
GGCAAACGAGGAATTGTCAAGGAACTTGCTGTCACGTTGCAAGGACCAGAAGATAATACTCTACTGTTTGAATCAAGGTTTGAGAGTGGGAATCTGCAAAAAGCT
GTCAGAGTAGACACCTATGAGTATGAACTCACCTTGCGAACTGACCTCTACACTAACAAACACACTCAGTGGTTTTATTTTCGTGTTCAGAACACCAGAAAAGAT
GCTACCTATCGCTTCACCATTGTCAACTTGCTAAAACCCAAGAGTCTTTATACTGTAGGGATGAAGCCACTCTTGTACTCCCAATTGGATGCCAACACCCGCAAT
ATTGGCTGGAGGAGAGAAGGAAATGAAATCAAGTACTACAAGAACAACACGGATGATGGGCAGCAGCCCTTCTACTGTCTCACGTGGACCATTCAGTTTCCATAT
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>AGBL2|79841|protein
MFPALETHLKQTIPDPYEDFMYRHLQYYGYFKAQRGSLPNSATHQHVRKNNPQCLLNGSLGEKDDLIPDTLQKEKLLWPISLSSAVHRQIEAINRDFHSCLGWMQ
WRGLSSLQPPPPRFKDSPASAFRVAGITDSHMLSLPHLRSRQLLYDELDEVNPRLREPQELFSILSTKRPLQAPRWPIECEVIKENIHHIEWAPPQPEYFYQPKG
NEKVPEIVGEKKGTVVYQLDSVPIEGSYFTSSRVGGKRGIVKELAVTLQGPEDNTLLFESRFESGNLQKAVRVDTYEYELTLRTDLYTNKHTQWFYFRVQNTRKD
ATYRFTIVNLLKPKSLYTVGMKPLLYSQLDANTRNIGWRREGNEIKYYKNNTDDGQQPFYCLTWTIQFPYDQDTCFFAHFYPYTYTDLQCYLLSVANNPIQSQFC
KLQTLCRSLAGNTVYLLTITNPSQTPQEAAAKKAVVLSARVHPGESNGSWVMKGFLDFILSNSPDAQLLRDIFVFKVLPMLNPDGVIVGNYRCSLAGRDLNRHYK
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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 (1) 1 (2) 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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top