AutismKB 2.0

Evidence Details for AGAP2


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Basic Information Top
Gene Symbol:AGAP2 ( CENTG1,FLJ16430,GGAP2,KIAA0167,PIKE )
Gene Full Name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
Band: 12q14.1
Quick LinksEntrez ID:116986; OMIM: 605476; Uniprot ID:AGAP2_HUMAN; ENSEMBL ID: ENSG00000135439; HGNC ID: 16921
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AGAP2|116986|nucleotide
ATGAGCCGGGGCGCGGGCGCGCTTCAGCGCCGGACAACGACCTACCTCATCTCGCTGACCCTGGTTAAGCTCGAGTCGGTGCCTCCGCCGCCGCCTTCTCCGTCT
GCGGCCGCGGCCGGCGCCGCCGGTGCCAGAGGCTCCGAGACTGGGGATCCTGGCAGCCCCCGAGGCGCGGAGGAGCCGGGCAAGAAGCGGCACGAACGTCTCTTC
CACCGGCAGGATGCGCTGTGGATCAGCACGAGCAGCGCGGGCACCGGGGGCGCGGAGCCCCCAGCCCTGTCCCCGGCTCCGGCCAGTCCGGCCCGCCCAGTCTCC
CCCGCTCCCGGCCGCCGCCTCTCCCTCTGGGCCGTCCCTCCGGGACCCCCGCTCTCCGGGGGACTGAGCCCCGACCCCAAGCCTGGGGGCGCCCCCACCTCCTCC
CGGCGCCCCCTGCTCAGCAGCCCGAGCTGGGGCGGCCCGGAGCCCGAAGGCCGGGCGGGCGGCGGCATCCCTGGCTCATCCTCTCCGCACCCTGGCACCGGCAGC
CGGAGGCTCAAGGTGGCGCCTCCTCCGCCGGCTCCCAAGCCTTGCAAGACCGTGACCACGAGTGGAGCCAAAGCCGGCGGGGGCAAGGGCGCGGGTAGCCGCCTG
TCATGGCCCGAAAGCGAGGGCAAGCCCAGGGTCAAGGGGTCAAAGAGCAGCGCCGGGACTGGAGCTTCGGTCTCTGCCGCCGCCACCGCCGCCGCCGCCGGGGGA
GGGGGCTCTACAGCTTCGACCTCTGGTGGGGTCGGGGCTGGGGCTGGAGCCCGAGGGAAGTTGTCCCCTCGGAAAGGCAAGAGTAAGACCTTGGACAACAGTGAC
TTGCATCCGGGACCGCCTGCCGGCTCTCCTCCTCCGCTAACCCTCCCACCAACTCCGAGTCCAGCCACTGCTGTCACCGCTGCTTCCGCGCAGCCCCCCGGGCCT
GCACCTCCAATCACTCTGGAGCCTCCAGCTCCGGGGCTGAAACGGGGCCGGGAGGGGGGCCGAGCATCCACTCGTGACCGCAAGATGCTCAAGTTTATCAGCGGC
ATCTTCACCAAGAGCACAGGAGGGCCTCCTGGCTCCGGGCCCCTTCCCGGACCCCCCAGCCTGTCTTCTGGCAGCGGGTCCAGGGAGCTGCTGGGCGCCGAGCTC
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>AGAP2|116986|protein
MSRGAGALQRRTTTYLISLTLVKLESVPPPPPSPSAAAAGAAGARGSETGDPGSPRGAEEPGKKRHERLFHRQDALWISTSSAGTGGAEPPALSPAPASPARPVS
PAPGRRLSLWAVPPGPPLSGGLSPDPKPGGAPTSSRRPLLSSPSWGGPEPEGRAGGGIPGSSSPHPGTGSRRLKVAPPPPAPKPCKTVTTSGAKAGGGKGAGSRL
SWPESEGKPRVKGSKSSAGTGASVSAAATAAAAGGGGSTASTSGGVGAGAGARGKLSPRKGKSKTLDNSDLHPGPPAGSPPPLTLPPTPSPATAVTAASAQPPGP
APPITLEPPAPGLKRGREGGRASTRDRKMLKFISGIFTKSTGGPPGSGPLPGPPSLSSGSGSRELLGAELRASPKAVINSQEWTLSRSIPELRLGVLGDARSGKS
SLIHRFLTGSYQVLEKTESEQYKKEMLVDGQTHLVLIREEAGAPDAKFSGWADAVIFVFSLEDENSFQAVSRLHGQLSSLRGEGRGGLALALVGTQDRISASSPR
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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 (2) 0 (0) 0 (0) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top