AutismKB 2.0

Evidence Details for ADRM1


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Basic Information Top
Gene Symbol:ADRM1 ( ARM1,GP110,MGC29536,Rpn13 )
Gene Full Name: adhesion regulating molecule 1
Band: 20q13.33
Quick LinksEntrez ID:11047; OMIM: 610650; Uniprot ID:ADRM1_HUMAN; ENSEMBL ID: ENSG00000130706; HGNC ID: 15759
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ADRM1|11047|nucleotide
ATGACGACCTCAGGCGCGCTCTTTCCAAGCCTGGTGCCAGGCTCTCGGGGCGCCTCCAACAAGTACTTGGTGGAGTTTCGGGCGGGAAAGATGTCCCTGAAGGGG
ACCACCGTGACTCCGGATAAGCGGAAAGGGCTGGTGTACATTCAGCAGACGGACGACTCGCTTATTCACTTCTGCTGGAAGGACAGGACGTCCGGGAACGTGGAA
GACGACTTGATCATCTTCCCTGACGACTGTGAGTTCAAGCGGGTGCCGCAGTGCCCCAGCGGGAGGGTCTACGTGCTGAAGTTCAAGGCAGGGTCCAAGCGGCTT
TTCTTCTGGATGCAGGAACCCAAGACAGACCAGGATGAGGAGCATTGCCGGAAAGTCAACGAGTATCTGAACAACCCCCCGATGCCTGGGGCGCTGGGGGCCAGC
GGAAGCAGCGGCCACGAACTCTCTGCGCTAGGCGGTGAGGGTGGCCTGCAGAGCCTGCTGGGAAACATGAGCCACAGCCAGCTCATGCAGCTCATCGGACCAGCC
GGCCTCGGAGGACTGGGTGGGCTGGGGGCCCTGACTGGACCTGGCCTGGCCAGCTTACTGGGGAGCAGTGGGCCTCCAGGGAGCAGCTCCTCCTCCAGCTCCCGG
AGCCAGTCGGCAGCGGTCACCCCGTCATCCACCACCTCTTCCACCCGTGCCACCCCAGCCCCTTCTGCTCCAGCAGCTGCCTCAGCAACTAGCCCGAGCCCCGCG
CCCAGTTCCGGGAATGGAGCCAGCACAGCAGCCAGCCCGACCCAGCCCATCCAGCTGAGCGACCTCCAGAGCATCCTGGCCACGATGAACGTACCAGCCGGGCCA
GCAGGCGGCCAGCAAGTGGACCTGGCCAGTGTGCTGACGCCGGAGATAATGGCTCCCATCCTCGCCAACGCGGATGTCCAGGAGCGCCTGCTTCCCTACTTGCCA
TCTGGGGAGTCGCTGCCGCAGACCGCGGATGAGATCCAGAATACCCTGACCTCGCCCCAGTTCCAGCAGGCCCTGGGCATGTTCAGCGCAGCCTTGGCCTCGGGG
CAGCTGGGCCCCCTCATGTGCCAGTTCGGTCTGCCTGCAGAGGCTGTGGAGGCCGCCAACAAGGGCGATGTGGAAGCGTTTGCCAAAGCCATGCAGAACAACGCC
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>ADRM1|11047|protein
MTTSGALFPSLVPGSRGASNKYLVEFRAGKMSLKGTTVTPDKRKGLVYIQQTDDSLIHFCWKDRTSGNVEDDLIIFPDDCEFKRVPQCPSGRVYVLKFKAGSKRL
FFWMQEPKTDQDEEHCRKVNEYLNNPPMPGALGASGSSGHELSALGGEGGLQSLLGNMSHSQLMQLIGPAGLGGLGGLGALTGPGLASLLGSSGPPGSSSSSSSR
SQSAAVTPSSTTSSTRATPAPSAPAAASATSPSPAPSSGNGASTAASPTQPIQLSDLQSILATMNVPAGPAGGQQVDLASVLTPEIMAPILANADVQERLLPYLP
SGESLPQTADEIQNTLTSPQFQQALGMFSAALASGQLGPLMCQFGLPAEAVEAANKGDVEAFAKAMQNNAKPEQKEGDTKDKKDEEEDMSLD

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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018