AutismKB 2.0

Evidence Details for ARMC5


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Basic Information Top
Gene Symbol:ARMC5 ( FLJ00019,FLJ13063 )
Gene Full Name: armadillo repeat containing 5
Band: 16p11.2
Quick LinksEntrez ID:79798; OMIM: NA; Uniprot ID:ARMC5_HUMAN; ENSEMBL ID: ENSG00000140691; HGNC ID: 25781
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARMC5|79798|nucleotide
ATGGCGGCTGCGAAGCCAACCCTCACGGACTCGCTCTCGTTCTGCCTCGCGCAGCTCGCGGCGGCGGCCGGGGAGGCTCTGGGTGGGGAAAAGGACCCAGCGACC
AACGAGACACCCCTGAGCCGCGCGCTCCTAGCCCTCCGCACGCGCCACATCAAGGCAGCGGGGGGAATCGAGCGCTTCCGGGCACGCGGCGGGCTCCGCCCCCTA
CTCGCGCTGCTACGGCGAGCGGCTGCAGCGGGTTCCGCCCCGTCCCAGGCAGGCCCCGGCTCCGCCCCCTCGTCGGCCGCGTCGGGAGCTTCTAGCCCCGCCCCC
GCGTCGGGCCCCGCCCCCTCCGCTGTGTCGTCGTCTAGTCCTACGCCGCCAGTGCGCCTGCGCAAGACGCTGGACTTGGCGCTCAGCATCCTAGCCGATTGCTGT
ACGGAAGGGGCGTGCCGGACCGAAGTGCGCAGACTCGGAGGCATACTCCCTTTGGTGACCATTCTTCAGTGCATGAAGACAGACAGCATCCAGAACCGAACGGCC
CGTGCCCTGGGGAACTTAGCCATGGAACCTGAGAGCTGTGGGGACATCCACTGTGCTGGTGCTGTTCCCCTGCTTGTGGAGAGCCTGACAGCCTGCCAGGACTCG
CAGTGCCTACAGAGCGTGGTGCGTGCCCTCCGTAACCTGGCAGACTCACCCCAGCACCGCCTGGCCTTGGCACAGCAGGGAGCAGTGCGTCCGCTGGCCGAGCTC
CTGGCCACTGCCCCAGATGCTGCACTGACCTTAGCCCTCGTCCGTGCCCTCCTGGAACTCAGCCGAGGCTGCTCCCGGGCCTGTGCTGAGCAGCTAAGTCTGGGT
GGGGGATTGGGCCCACTCGTCAGCCTGGCTTCCCACCCCAAGCGGGCAGTACGCGAGGGAACCATTCTGATCCTCGCCAACCTGTGTGCCCAGGGCCTGATTCGG
CCTGCACTGGGCAATGCTGGTGGCGTGGAGGTGCTGGTAGATGAGCTCCGGCAGCGCCGGGATCCTAATGGAGCTAGCCCAACCTCCCAGCAGCCCCTGGTGCGG
GCTGTGTGCCTCCTATGTCGTGAGGCCATCAACCGGGCCCGACTGCGGGATGCTGGTGGCTTGGATCTACTGATGGGCCTGCTGCGGGACCCTCGTGCAAGCGCA
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>ARMC5|79798|protein
MAAAKPTLTDSLSFCLAQLAAAAGEALGGEKDPATNETPLSRALLALRTRHIKAAGGIERFRARGGLRPLLALLRRAAAAGSAPSQAGPGSAPSSAASGASSPAP
ASGPAPSAVSSSSPTPPVRLRKTLDLALSILADCCTEGACRTEVRRLGGILPLVTILQCMKTDSIQNRTARALGNLAMEPESCGDIHCAGAVPLLVESLTACQDS
QCLQSVVRALRNLADSPQHRLALAQQGAVRPLAELLATAPDAALTLALVRALLELSRGCSRACAEQLSLGGGLGPLVSLASHPKRAVREGTILILANLCAQGLIR
PALGNAGGVEVLVDELRQRRDPNGASPTSQQPLVRAVCLLCREAINRARLRDAGGLDLLMGLLRDPRASAWHPRIVAALVGFLYDTGALGRLQALGLVPLLAGQL
CGEAGEEEEEGREAASWDFPEERTPERAQGGSFRSLRSWLISEGYATGPDDISPDWSPEQCPPEPMEPASPAPTPTSLRAPRTQRTPGRSPAAAIEEPWGREGPA
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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) 2 (5) 0 (0) 0 (0) 0 (0) 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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top