AutismKB 2.0

Evidence Details for ANXA11


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Basic Information Top
Gene Symbol:ANXA11 ( ANX11,CAP50 )
Gene Full Name: annexin A11
Band: 10q22.3
Quick LinksEntrez ID:311; OMIM: 602572; Uniprot ID:ANX11_HUMAN; ENSEMBL ID: ENSG00000122359; HGNC ID: 535
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANXA11|311|nucleotide
ATGAGCTACCCTGGCTATCCCCCGCCCCCAGGTGGCTACCCACCAGCTGCACCAGGTGGTGGTCCCTGGGGAGGTGCTGCCTACCCTCCTCCGCCCAGCATGCCC
CCCATCGGGCTGGATAACGTGGCCACCTATGCGGGGCAGTTCAACCAGGACTATCTCTCGGGAATGGCGGCCAACATGTCTGGGACATTTGGAGGAGCCAACATG
CCCAACCTGTACCCTGGGGCCCCTGGGGCTGGCTACCCACCAGTGCCCCCTGGCGGCTTTGGGCAGCCCCCCTCTGCCCAGCAGCCTGTTCCTCCCTATGGGATG
TATCCACCCCCAGGAGGAAACCCACCCTCCAGGATGCCCTCATATCCGCCATACCCAGGGGCCCCTGTGCCGGGCCAGCCCATGCCACCCCCCGGACAGCAGCCC
CCAGGGGCCTACCCTGGGCAGCCACCAGTGACCTACCCTGGTCAGCCTCCAGTGCCACTCCCTGGGCAGCAGCAGCCAGTGCCGAGCTACCCAGGATACCCGGGG
TCTGGGACTGTCACCCCCGCTGTGCCCCCAACCCAGTTTGGAAGCCGAGGCACCATCACTGATGCTCCCGGCTTTGACCCCCTGCGAGATGCCGAGGTCCTGCGG
AAGGCCATGAAAGGCTTCGGGACGGATGAGCAGGCCATCATTGACTGCCTGGGGAGTCGCTCCAACAAGCAGCGGCAGCAGATCCTACTTTCCTTCAAGACGGCT
TACGGCAAGGATTTGATCAAAGATCTGAAATCTGAACTGTCAGGAAACTTTGAGAAGACAATCTTGGCTCTGATGAAGACCCCAGTCCTCTTTGACATTTATGAG
ATAAAGGAAGCCATCAAGGGGGTTGGCACTGATGAAGCCTGCCTGATTGAGATCCTCGCTTCCCGCAGCAATGAGCACATCCGAGAATTAAACAGAGCCTACAAA
GCAGAATTCAAAAAGACCCTGGAAGAGGCCATTCGAAGCGACACATCAGGGCACTTCCAGCGGCTCCTCATCTCTCTCTCTCAGGGAAACCGTGATGAAAGCACA
AACGTGGACATGTCACTCGCCCAGAGAGATGCCCAGGAGCTGTATGCGGCCGGGGAGAACCGCCTGGGAACAGACGAGTCCAAGTTCAATGCGGTTCTGTGCTCC
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>ANXA11|311|protein
MSYPGYPPPPGGYPPAAPGGGPWGGAAYPPPPSMPPIGLDNVATYAGQFNQDYLSGMAANMSGTFGGANMPNLYPGAPGAGYPPVPPGGFGQPPSAQQPVPPYGM
YPPPGGNPPSRMPSYPPYPGAPVPGQPMPPPGQQPPGAYPGQPPVTYPGQPPVPLPGQQQPVPSYPGYPGSGTVTPAVPPTQFGSRGTITDAPGFDPLRDAEVLR
KAMKGFGTDEQAIIDCLGSRSNKQRQQILLSFKTAYGKDLIKDLKSELSGNFEKTILALMKTPVLFDIYEIKEAIKGVGTDEACLIEILASRSNEHIRELNRAYK
AEFKKTLEEAIRSDTSGHFQRLLISLSQGNRDESTNVDMSLAQRDAQELYAAGENRLGTDESKFNAVLCSRSRAHLVAVFNEYQRMTGRDIEKSICREMSGDLEE
GMLAVVKCLKNTPAFFAERLNKAMRGAGTKDRTLIRIMVSRSETDLLDIRSEYKRMYGKSLYHDISGDTSGDYRKILLKICGGND
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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 (2) 1 (1) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 4 (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
Balciuniene, 2007 - aCGH, SNP microarrayautism 1 - 1 - - - -
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top