AutismKB 2.0

Evidence Details for ANKRD11


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Basic Information Top
Gene Symbol:ANKRD11 ( ANCO-1,ANCO1,LZ16,T13 )
Gene Full Name: ankyrin repeat domain 11
Band: 16q24.3
Quick LinksEntrez ID:29123; OMIM: 611192; Uniprot ID:ANR11_HUMAN; ENSEMBL ID: ENSG00000167522; HGNC ID: 21316
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANKRD11|29123|nucleotide
ATGCCCAAGGGTGGGTGCCCTAAAGCACCACAGCAGGAAGAGCTTCCCCTCAGCAGCGACATGGTGGAGAAGCAGACTGGGAAAAAGGATAAAGATAAAGTTTCT
CTAACCAAGACCCCAAAACTGGAGCGTGGCGATGGCGGGAAGGAGGTGAGGGAGCGAGCCAGCAAGCGGAAGCTGCCCTTCACCGCGGGCGCCAATGGGGAGCAG
AAGGACTCGGACACAGAGAAGCAGGGCCCTGAGCGGAAGAGGATTAAGAAGGAGCCTGTCACCCGGAAGGCCGGGCTGCTGTTTGGCATGGGGCTGTCTGGAATC
CGAGCCGGCTACCCCCTCTCCGAGCGCCAGCAGGTGGCCCTTCTCATGCAGATGACGGCCGAGGAGTCTGCCAACAGCCCAGTGGACACAACACCAAAGCACCCC
TCCCAGTCTACAGTGTGTCAGAAGGGAACGCCCAACTCTGCCTCAAAAACCAAAGATAAAGTGAACAAGAGAAACGAGCGTGGAGAGACCCGCCTGCACCGAGCC
GCCATCCGCGGGGACGCCCGGCGCATCAAAGAGCTCATCAGCGAGGGGGCAGACGTCAACGTCAAGGACTTCGCAGGCTGGACGGCGCTGCACGAGGCCTGTAAC
CGGGGCTACTACGACGTCGCGAAGCAGCTGCTGGCTGCAGGTGCGGAGGTGAACACCAAGGGCCTAGATGACGACACGCCTTTGCACGACGCTGCCAACAACGGG
CACTACAAGGTGGTGAAGCTGCTGCTGCGGTACGGAGGGAACCCGCAGCAGAGCAACAGGAAAGGCGAGACGCCGCTGAAAGTGGCCAACTCCCCCACGATGGTG
AACCTCCTGTTAGGCAAAGGCACTTACACTTCCAGCGAGGAGAGCTCGACGGAGAGCTCAGAAGAGGAAGACGCACCATCCTTCGCACCTTCCAGTTCAGTCGAC
GGCAACAACACGGACTCCGAGTTCGAAAAAGGCCTCAAGCACAAGGCCAAGAACCCAGAGCCACAGAAGGCCACGGCCCCCGTCAAGGACGAGTATGAGTTTGAT
GAGGACGACGAGCAGGACAGGGTTCCTCCGGTGGACGACAAGCACCTATTGAAAAAGGACTACAGAAAAGAAACGAAATCCAATAGTTTTATCTCTATACCCAAA
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>ANKRD11|29123|protein
MPKGGCPKAPQQEELPLSSDMVEKQTGKKDKDKVSLTKTPKLERGDGGKEVRERASKRKLPFTAGANGEQKDSDTEKQGPERKRIKKEPVTRKAGLLFGMGLSGI
RAGYPLSERQQVALLMQMTAEESANSPVDTTPKHPSQSTVCQKGTPNSASKTKDKVNKRNERGETRLHRAAIRGDARRIKELISEGADVNVKDFAGWTALHEACN
RGYYDVAKQLLAAGAEVNTKGLDDDTPLHDAANNGHYKVVKLLLRYGGNPQQSNRKGETPLKVANSPTMVNLLLGKGTYTSSEESSTESSEEEDAPSFAPSSSVD
GNNTDSEFEKGLKHKAKNPEPQKATAPVKDEYEFDEDDEQDRVPPVDDKHLLKKDYRKETKSNSFISIPKMEVKSYTKNNTIAPKKASHRILSDTSDEEDASVTV
GTGEKLRLSAHTILPGSKTREPSNAKQQKEKNKVKKKRKKETKGREVRFGKRSDKFCSSESESESSESGEDDRDSLGSSGCLKGSPLVLKDPSLFSSLSASSTSS
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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 (5) 0 (0) 0 (0) 0 (0) 2 (4) 0 (0) 2 (3) 1 (1) 48 (13)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Willemsen, 2010 - SNP microarrayASD 3 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
C Yuen RK, 2017 - WGSASD - - - - 1745 - -
Linkage Studies Top