AutismKB 2.0

Evidence Details for MBD1


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Basic Information Top
Gene Symbol:MBD1 ( CXXC3,PCM1,RFT )
Gene Full Name: methyl-CpG binding domain protein 1
Band: 18q21.1
Quick LinksEntrez ID:4152; OMIM: 156535; Uniprot ID:MBD1_HUMAN; ENSEMBL ID: ENSG00000141644; HGNC ID: 6916
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MBD1|4152|nucleotide
ATGGCTGAGGACTGGCTGGACTGCCCGGCCCTGGGCCCTGGCTGGAAGCGCCGCGAAGTCTTTCGCAAGTCAGGGGCCACCTGTGGACGCTCAGACACCTATTAC
CAGAGCCCCACAGGAGACAGGATCCGAAGCAAAGTTGAGCTGACTCGATACCTGGGCCCTGCGTGTGATCTCACCCTCTTCGACTTCAAACAAGGCATCTTGTGC
TATCCAGCCCCCAAGGCCCATCCCGTGGCGGTTGCCAGCAAGAAGCGAAAGAAGCCTTCAAGGCCAGCCAAGACTCGGAAACGTCAGGTTGGACCCCAGAGTGGT
GAGGTCAGGAAGGAGGCCCCGAGGGATGAGACCAAGGCTGACACTGACACAGCCCCAGCTTCATTCCCTGCTCCTGGGTGCTGTGAGAACTGTGGAATCAGCTTC
TCAGGGGATGGCACCCAAAGGCAGCGGCTCAAAACGTTGTGCAAAGACTGTCGAGCACAGAGAATTGCCTTCAACCGGGAACAGAGAATGTTTAAGCGTGTGGGC
TGTGGGGAGTGTGCAGCCTGCCAGGTAACAGAAGACTGTGGGGCCTGCTCCACCTGCCTCCTGCAGCTGCCCCATGATGTGGCATCGGGGCTGTTCTGCAAGTGT
GAACGGAGACGCTGCCTCCGGATTGTGGAAAGGAGCCGAGGGTGTGGAGTATGCCGGGGCTGTCAGACCCAAGAGGATTGTGGCCATTGCCCCATCTGCCTTCGC
CCTCCCCGCCCTGGTCTCAGGCGCCAGTGGAAATGTGTCCAGCGACGTTGCCTACGGGGTAAACATGCCCGCCGCAAGGGAGGCTGTGACTCCAAGATGGCTGCC
AGGCGGCGCCCCGGAGCCCAGCCACTGCCTCCACCACCCCCATCACAGTCCCCAGAGCCCACAGAGCCGCACCCCAGAGCCCTGGCCCCCTCGCCACCTGCCGAG
TTCATCTATTACTGTGTAGACGAGGACGAGCTACAGCCCTACACGAACCGCCGGCAGAACCGCAAGTGCGGGGCCTGTGCAGCCTGCCTACGGCGGATGGACTGT
GGCCGCTGCGACTTCTGCTGCGACAAGCCCAAATTCGGGGGCAGCAACCAGAAGCGCCAGAAGTGTCGTTGGCGCCAATGCCTGCAGTTTGCCATGAAGCGGCTG
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>MBD1|4152|protein
MAEDWLDCPALGPGWKRREVFRKSGATCGRSDTYYQSPTGDRIRSKVELTRYLGPACDLTLFDFKQGILCYPAPKAHPVAVASKKRKKPSRPAKTRKRQVGPQSG
EVRKEAPRDETKADTDTAPASFPAPGCCENCGISFSGDGTQRQRLKTLCKDCRAQRIAFNREQRMFKRVGCGECAACQVTEDCGACSTCLLQLPHDVASGLFCKC
ERRRCLRIVERSRGCGVCRGCQTQEDCGHCPICLRPPRPGLRRQWKCVQRRCLRGKHARRKGGCDSKMAARRRPGAQPLPPPPPSQSPEPTEPHPRALAPSPPAE
FIYYCVDEDELQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAMKRLLPSVWSESEDGAGSPPPYRRRKRPSSARRHHLGPT
LKPTLATRTAQPDHTQAPTKQEAGGGFVLPPPGTDLVFLREGASSPVQVPGPVAASTEALLQEAQCSGLSWVVALPQVKQEKADTQDEWTPGTAVLTSPVLVPGC
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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 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2) 22 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (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