AutismKB 2.0

Evidence Details for AKAP13


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Basic Information Top
Gene Symbol:AKAP13 ( AKAP-Lbc,ARHGEF13,BRX,FLJ11952,FLJ43341,HA-3,Ht31,LBC,PROTO-LB,PROTO-LBC,c-lbc )
Gene Full Name: A kinase (PRKA) anchor protein 13
Band: 15q25.3
Quick LinksEntrez ID:11214; OMIM: 604686; Uniprot ID:AKP13_HUMAN; ENSEMBL ID: ENSG00000170776; HGNC ID: 371
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AKAP13|11214|nucleotide
ATGAAACTTAATCCACAGCAAGCTCCCTTATATGGTGATTGTGTTGTTACAGTGCTGCTTGCTGAAGAGGACAAAGCTGAAGATGATGTAGTGTTTTACTTGGTA
TTTTTGGGTTCCACCCTCCGTCACTGTACAAGTACTCGGAAGGTCAGTTCTGATACATTGGAGACCATTGCTCCTGGTCATGATTGTTGTGAAACAGTGAAGGTG
CAGCTCTGTGCTTCCAAAGAGGGCCTTCCCGTGTTTGTGGTGGCTGAAGAAGACTTTCATTTCGTCCAGGATGAAGCGTATGATGCAGCTCAATTCCTAGCAACC
AGTGCTGGAAATCAGCAGGCTTTGAACTTTACCCGTTTTCTTGACCAGTCAGGACCCCCATCTGGGGATGTGAATTCCCTTGATAAGAAGTTGGTGCTGGCATTC
AGGCACCTGAAGCTGCCCACGGAGTGGAATGTATTGGGGACAGATCAGAGTTTGCATGATGCTGGCCCGCGAGAGACATTGATGCATTTTGCTGTGCGGCTGGGA
CTGCTGAGGTTGACGTGGTTCCTGTTGCAGAAGCCAGGTGGCCGCGGAGCTCTCAGTATCCACAACCAGGAAGGGGCGACGCCTGTGAGCTTGGCCTTGGAGCGA
GGCTATCACAAGCTGCACCAGCTTCTAACCGAGGAGAATGCTGGAGAACCAGACTCCTGGAGCAGTTTATCCTATGAAATACCGTATGGAGACTGTTCTGTGAGG
CATCATCGAGAGTTGGACATCTATACATTAACCTCTGAGTCTGATTCACATCATGAACACCCATTTCCTGGAGACGGTTGCACTGGACCAATTTTTAAACTTATG
AACATCCAACAGCAACTAATGAAAACAAACCTCAAGCAGATGGACAGTCTTATGCCCTTAATGATGACAGCACAGGATCCTTCCAGTGCCCCAGAGACAGATGGC
CAGTTTCTTCCCTGTGCACCGGAGCCCACGGACCCTCAGCGACTTTCTTCTTCTGAAGAGACTGAGAGCACTCAGTGCTGCCCAGGGAGCCCTGTTGCACAGACT
GAAAGTCCCTGTGATTTGTCAAGCATAGTTGAGGAGGAGAATACAGACCGTTCCTGTAGGAAGAAAAATAAAGGCGTGGAAAGAAAAGGGGAAGAGGTGGAGCCA
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>AKAP13|11214|protein
MKLNPQQAPLYGDCVVTVLLAEEDKAEDDVVFYLVFLGSTLRHCTSTRKVSSDTLETIAPGHDCCETVKVQLCASKEGLPVFVVAEEDFHFVQDEAYDAAQFLAT
SAGNQQALNFTRFLDQSGPPSGDVNSLDKKLVLAFRHLKLPTEWNVLGTDQSLHDAGPRETLMHFAVRLGLLRLTWFLLQKPGGRGALSIHNQEGATPVSLALER
GYHKLHQLLTEENAGEPDSWSSLSYEIPYGDCSVRHHRELDIYTLTSESDSHHEHPFPGDGCTGPIFKLMNIQQQLMKTNLKQMDSLMPLMMTAQDPSSAPETDG
QFLPCAPEPTDPQRLSSSEETESTQCCPGSPVAQTESPCDLSSIVEEENTDRSCRKKNKGVERKGEEVEPAPIVDSGTVSDQDSCLQSLPDCGVKGTEGLSSCGN
RNEETGTKSSGMPTDQESLSSGDAVLQRDLVMEPGTAQYSSGGELGGISTTNVSTPDTAGEMEHGLMNPDATVWKNVLQGGESTKERFENSNIGTAGASDVHVTS
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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) 0 (0) 0 (0) 0 (2) 0 (0) 2 (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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top