Evidence Details for MBD1
Basic Information Top
Gene Symbol: | MBD1 ( CXXC3,PCM1,RFT ) |
---|---|
Gene Full Name: | methyl-CpG binding domain protein 1 |
Band: | 18q21.1 |
Quick Links | Entrez 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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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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MAEDWLDCPALGPGWKRREVFRKSGATCGRSDTYYQSPTGDRIRSKVELTRYLGPACDLTLFDFKQGILCYPAPKAHPVAVASKKRKKPSRPAKTRKRQVGPQSG
EVRKEAPRDETKADTDTAPASFPAPGCCENCGISFSGDGTQRQRLKTLCKDCRAQRIAFNREQRMFKRVGCGECAACQVTEDCGACSTCLLQLPHDVASGLFCKC
ERRRCLRIVERSRGCGVCRGCQTQEDCGHCPICLRPPRPGLRRQWKCVQRRCLRGKHARRKGGCDSKMAARRRPGAQPLPPPPPSQSPEPTEPHPRALAPSPPAE
FIYYCVDEDELQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAMKRLLPSVWSESEDGAGSPPPYRRRKRPSSARRHHLGPT
LKPTLATRTAQPDHTQAPTKQEAGGGFVLPPPGTDLVFLREGASSPVQVPGPVAASTEALLQEAQCSGLSWVVALPQVKQEKADTQDEWTPGTAVLTSPVLVPGC
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 screen | autism | - | - | - | - | 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
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