AutismKB 2.0

Evidence Details for AKIRIN2


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Basic Information Top
Gene Symbol:AKIRIN2 ( C6orf166,FBI1,FLJ10342,dJ486L4.2 )
Gene Full Name: akirin 2
Band: 6q15
Quick LinksEntrez ID:55122; OMIM: NA; Uniprot ID:AKIR2_HUMAN; ENSEMBL ID: ENSG00000135334; HGNC ID: 21407
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AKIRIN2|55122|nucleotide
ATGGCGTGCGGAGCCACTCTGAAAAGGACTCTGGATTTCGACCCGCTGTTGAGCCCGGCGTCCCCGAAGCGCAGGCGATGTGCGCCATTGTCGGCGCCCACCTCG
GCCGCTGCCTCCCCGTTGTCGGCGGCCGCGGCCACCGCCGCCTCCTTCTCCGCTGCGGCCGCCTCGCCGCAGAAGTATCTCCGAATGGAGCCATCCCCCTTCGGC
GACGTCTCCTCCCGCCTCACCACAGAACAAATTCTGTACAACATAAAACAAGAGTATAAACGAATGCAGAAGAGAAGACATTTAGAAACGAGTTTCCAACAGACA
GATCCGTGTTGTACTTCTGATGCACAGCCACATGCATTTCTCCTCAGTGGACCAGCTTCACCAGGGACTTCATCTGCAGCATCCTCACCATTAAAAAAAGAACAG
CCCTTATTTACTCTACGGCAGGTTGGGATGATCTGTGAACGTTTGTTGAAAGAACGTGAAGAGAAAGTTCGAGAAGAATATGAAGAAATATTGAACACAAAACTT
GCAGAACAATATGATGCGTTTGTGAAGTTTACGCATGATCAAATAATGCGACGATATGGAGAACAGCCTGCTAGCTATGTTTCATGA





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>AKIRIN2|55122|protein
MACGATLKRTLDFDPLLSPASPKRRRCAPLSAPTSAAASPLSAAAATAASFSAAAASPQKYLRMEPSPFGDVSSRLTTEQILYNIKQEYKRMQKRRHLETSFQQT
DPCCTSDAQPHAFLLSGPASPGTSSAASSPLKKEQPLFTLRQVGMICERLLKEREEKVREEYEEILNTKLAEQYDAFVKFTHDQIMRRYGEQPASYVS



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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 4 (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
Quintela I, 2015 - ---autistic disorder - - - - 1 - 1
Linkage Studies Top