AutismKB 2.0

Evidence Details for AKAP6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AKAP6 ( ADAP100,ADAP6,AKAP100,KIAA0311,MGC165020,PRKA6,mAKAP )
Gene Full Name: A kinase (PRKA) anchor protein 6
Band: 14q12
Quick LinksEntrez ID:9472; OMIM: 604691; Uniprot ID:AKAP6_HUMAN; ENSEMBL ID: ENSG00000151320; HGNC ID: 376
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AKAP6|9472|nucleotide
ATGTTAACCATGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCTGGATCCCATGGCTACTGATGCTTCACCCATGGCCATCAACATGACACCCACTGTGGAG
CAGGGTGAGGGAGAAGAGGCAATGAAGGACATGGACTCTGACCAGCAGTATGAAAAGCCACCCCCACTACACACAGGGGCTGACTGGAAGATTGTCCTCCACTTA
CCTGAAATTGAGACCTGGCTCCGGATGACCTCAGAGAGGGTCCGAGACCTAACCTATTCAGTCCAGCAGGATTCGGACAGCAAGCATGTGGATGTACATCTAGTT
CAACTAAAGGACATTTGTGAAGATATTTCTGATCATGTTGAGCAAATCCATGCCCTCCTTGAAACAGAGTTCTCCCTAAAGCTGCTGTCTTACTCTGTCAACGTG
ATAGTGGACATCCACGCAGTGCAGCTCCTCTGGCACCAGCTTCGAGTCTCAGTGCTGGTTCTGCGGGAGCGCATTCTGCAAGGTCTGCAGGACGCCAATGGCAAC
TACACTAGGCAGACGGACATTCTGCAAGCTTTCTCTGAAGAGACAAAAGAGGGCCGGCTTGATTCTCTAACAGAAGTGGATGACTCAGGACAATTAACCATCAAA
TGTTCTCAAAATTACTTGTCTCTGGATTGTGGCATTACTGCATTCGAACTGTCTGACTACAGTCCAAGTGAGGATTTGCTCAGTGGGCTAGGTGACATGACCTCT
AGCCAAGTCAAAACCAAACCCTTTGACTCTTGGAGCTACAGTGAGATGGAAAAGGAGTTTCCTGAGCTTATCCGAAGTGTTGGTTTACTTACGGTAGCTGCTGAC
TCTATCTCTACCAATGGCAGTGAAGCAGTTACTGAGGAGGTATCTCAAGTATCTCTCTCAGTAGACGACAAAGGTGGATGTGAGGAAGACAATGCTTCTGCAGTC
GAAGAGCAACCAGGCTTAACACTGGGGGTGTCATCATCTTCAGGAGAAGCTCTGACAAATGCTGCTCAACCCTCCTCTGAGACTGTGCAGCAAGAATCCAGTTCC
TCCTCCCATCATGATGCAAAGAATCAGCAGCCTGTTCCTTGTGAAAATGCAACCCCCAAACGAACCATCAGAGATTGCTTTAATTATAACGAGGACTCTCCCACG
Show »

>AKAP6|9472|protein
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWKIVLHLPEIETWLRMTSERVRDLTYSVQQDSDSKHVDVHLV
QLKDICEDISDHVEQIHALLETEFSLKLLSYSVNVIVDIHAVQLLWHQLRVSVLVLRERILQGLQDANGNYTRQTDILQAFSEETKEGRLDSLTEVDDSGQLTIK
CSQNYLSLDCGITAFELSDYSPSEDLLSGLGDMTSSQVKTKPFDSWSYSEMEKEFPELIRSVGLLTVAADSISTNGSEAVTEEVSQVSLSVDDKGGCEEDNASAV
EEQPGLTLGVSSSSGEALTNAAQPSSETVQQESSSSSHHDAKNQQPVPCENATPKRTIRDCFNYNEDSPTQPTLPKRGLFLKEETFKNDLKGNGGKRQMVDLKPE
MSRSTPSLVDPPDRSKLCLVLQSSYPNSPSAASQSYECLHKVGNGNLENTVKFHIKEISSSLGRLNDCYKEKSRLKKPHKTSEEVPPCRTPKRGTGSGKQAKNTK
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 0 (1) 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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top