AutismKB 2.0

Evidence Details for ANKMY1


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Basic Information Top
Gene Symbol:ANKMY1 ( DKFZp686D20155,DKFZp686L21237,FLJ20499,ZMYND13 )
Gene Full Name: ankyrin repeat and MYND domain containing 1
Band: 2q37.3
Quick LinksEntrez ID:51281; OMIM: NA; Uniprot ID:ANKY1_HUMAN; ENSEMBL ID: ENSG00000144504; HGNC ID: 20987
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANKMY1|51281|nucleotide
ATGTACCAGGGGGAGTTTGGGTTGAACATGAAGCTTGGATATGGCAAATTCTCTTGGCCCACAGGCGAGTCATACCATGGGCAGTTTTACCGGGACCACTGCCAT
GGCCTGGGTACCTACATGTGGCCAGATGGCTCCAGTTTCACGGGCACATTTTACCTCAGCCACCGAGAAGGCTACGGCACCATGTACATGAAGACACGGCTTTTC
CAGGGGCTATACAAAGCGGACCAGCGGTTTGGGCCAGGTGTCGAGACCTACCCCGATGGCAGCCAGGACGTGGGGCTGTGGTTCCGAGAGCAGCTCATCAAGCTG
TGCACCCAGATCCCCAGTGGCTTCTCCCTCCTCAGATACCCTGAGTTCTCCAGCTTCATCACCCACAGCCCTGCCAGGATCAGCCTCTCAGAAGAGGAGAAAACG
GAGTGGGGACTGCAGGAGGGACAGGATCCCTTTTTCTATGACTATAAGCGGTTTCTTCTGAATGACAACCTAACGCTGCCTCCAGAAATGTATGTCTACTCGACC
AACAGTGACCACCTGCCCATGACAAGCTCTTTCCGCAAAGAGCTGGACGCCCGCATCTTCCTCAATGAAATTCCTCCGTTCGTTGAGGATGGAGAACCATGGTTC
ATAATCAATGAGACCCCTTTGTTGGTCAAAATCCAGAAGCAAACTTACAAGTTCAGGAACAAGCCAGCTCACACCAGCTGGAACATGGGCGCCATCCTGGAGGGG
AAGCGCAGTGGCTTTGCACCCTGTGGGCCCAAAGAGCAACTTTCCATGGAGATGATCCTAAAGGCTGAGGAAGGGAACCACGAATGGATTTGTAGGATCCTGAAG
GACAACTTTGCTAGTGCTGACGTGGCGGACGCAAAGGGCTACACTGTGCTTGCTGCGGCTGCTACTCACTGCCACAACGACATTGTCAACCTTCTCCTGGACTGT
GGGGCCGACGTGAACAAGTGCTCAGATGAGGGTCTCACGGCACTCAGCATGTGTTTCCTCCTCCACTACCCCGCCCAGTCCTTCAAGCCCAATGTTGCTGAACGG
ACCATACCTGAGCCCCAGGAACCTCCAAAATTCCCAGTTGTTCCAATCCTTTCATCATCATTTATGGACACAAACCTGGAGTCTCTGTACTATGAGGTGAACGTG
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>ANKMY1|51281|protein
MYQGEFGLNMKLGYGKFSWPTGESYHGQFYRDHCHGLGTYMWPDGSSFTGTFYLSHREGYGTMYMKTRLFQGLYKADQRFGPGVETYPDGSQDVGLWFREQLIKL
CTQIPSGFSLLRYPEFSSFITHSPARISLSEEEKTEWGLQEGQDPFFYDYKRFLLNDNLTLPPEMYVYSTNSDHLPMTSSFRKELDARIFLNEIPPFVEDGEPWF
IINETPLLVKIQKQTYKFRNKPAHTSWNMGAILEGKRSGFAPCGPKEQLSMEMILKAEEGNHEWICRILKDNFASADVADAKGYTVLAAAATHCHNDIVNLLLDC
GADVNKCSDEGLTALSMCFLLHYPAQSFKPNVAERTIPEPQEPPKFPVVPILSSSFMDTNLESLYYEVNVPSQGSYELRPPPAPLLLPRVSGSHEGGHFQDTGQC
GGSIDHRSSSLKGDSPLVKGSLGHVESGLEDVLGNTDRGSLCSAETKFESNVCVCDFSIELSQAMLERSAQSHSLLKMASPSPCTSSFDKGTMRRMALSMIERRK
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top