Evidence Details for MCM9
Basic Information Top
| Gene Symbol: | MCM9 ( C6orf61,FLJ13942,FLJ20170,FLJ56845,MCMDC1,MGC35304,dJ329L24.1,dJ329L24.3 ) |
|---|---|
| Gene Full Name: | minichromosome maintenance complex component 9 |
| Band: | 6q22.31 |
| Quick Links | Entrez ID:254394; OMIM: 610098; Uniprot ID:MCM9_HUMAN; ENSEMBL ID: ENSG00000111877; HGNC ID: 21484 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MCM9|254394|nucleotide
ATGAATAGCGATCAAGTTACACTGGTTGGTCAAGTGTTTGAGTCATATGTTTCGGAATACCATAAGAATGATATTCTTCTAATCTTGAAGGAAAGGGATGAAGAT
GCTCATTACCCAGTTGTGGTTAATGCCATGACTCTGTTTGAGACCAACATGGAAATCGGGGAATATTTCAACATGTTCCCCAGTGAAGTGCTTACAATTTTTGAT
AGTGCACTGCGAAGGTCAGCCTTGACAATTCTCCAGTCCCTTTCTCAGCCTGAGGCTGTTTCCATGAAACAGAATCTTCATGCCAGGATATCAGGTTTGCCTGTC
TGTCCTGAGCTGGTGAGGGAACACATACCTAAAACCAAGGATGTGGGACACTTTTTATCTGTCACTGGGACAGTGATTCGAACAAGTCTGGTGAAGGTTCTGGAG
TTTGAGCGGGATTACATGTGTAACAAATGCAAGCATGTGTTTGTGATCAAGGCTGACTTTGAGCAGTATTACACCTTTTGCCGGCCATCCTCGTGTCCCAGCTTG
GAGAGCTGTGATTCCTCTAAATTCACTTGCCTCTCAGGCTTGTCTTCGTCTCCAACCAGGTGTAGAGATTACCAGGAAATCAAAATTCAGGAACAGGTTCAAAGG
CTATCTGTTGGAAGTATTCCACGATCTATGAAGGTTATTCTGGAAGATGACTTAGTGGATAGTTGCAAATCTGGTGATGACCTCACTATTTACGGGATTGTAATG
CAACGGTGGAAGCCCTTTCAGCAAGATGTGCGCTGTGAAGTGGAGATAGTCCTGAAAGCAAATTACATCCAAGTAAATAATGAGCAGTCCTCAGGGATCATCATG
GATGAGGAGGTCCAAAAGGAATTCGAAGATTTTTGGGAATACTATAAGAGCGATCCCTTTGCAGGAAGGAATGTAATATTGGCTAGCTTGTGCCCTCAAGTGTTT
GGAATGTATCTAGTAAAGCTTGCTGTGGCCATGGTGCTGGCTGGTGGGATTCAAAGGACTGATGCTACAGGAACACGGGTCAGAGGAGAATCTCATCTTTTATTG
GTTGGGGATCCTGGCACAGGGAAATCTCAGTTCCTCAAATATGCAGCAAAGATTACACCAAGATCTGTGCTGACCACAGGAATTGGATCTACTAGTGCAGGTCTG
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ATGAATAGCGATCAAGTTACACTGGTTGGTCAAGTGTTTGAGTCATATGTTTCGGAATACCATAAGAATGATATTCTTCTAATCTTGAAGGAAAGGGATGAAGAT
GCTCATTACCCAGTTGTGGTTAATGCCATGACTCTGTTTGAGACCAACATGGAAATCGGGGAATATTTCAACATGTTCCCCAGTGAAGTGCTTACAATTTTTGAT
AGTGCACTGCGAAGGTCAGCCTTGACAATTCTCCAGTCCCTTTCTCAGCCTGAGGCTGTTTCCATGAAACAGAATCTTCATGCCAGGATATCAGGTTTGCCTGTC
TGTCCTGAGCTGGTGAGGGAACACATACCTAAAACCAAGGATGTGGGACACTTTTTATCTGTCACTGGGACAGTGATTCGAACAAGTCTGGTGAAGGTTCTGGAG
TTTGAGCGGGATTACATGTGTAACAAATGCAAGCATGTGTTTGTGATCAAGGCTGACTTTGAGCAGTATTACACCTTTTGCCGGCCATCCTCGTGTCCCAGCTTG
GAGAGCTGTGATTCCTCTAAATTCACTTGCCTCTCAGGCTTGTCTTCGTCTCCAACCAGGTGTAGAGATTACCAGGAAATCAAAATTCAGGAACAGGTTCAAAGG
CTATCTGTTGGAAGTATTCCACGATCTATGAAGGTTATTCTGGAAGATGACTTAGTGGATAGTTGCAAATCTGGTGATGACCTCACTATTTACGGGATTGTAATG
CAACGGTGGAAGCCCTTTCAGCAAGATGTGCGCTGTGAAGTGGAGATAGTCCTGAAAGCAAATTACATCCAAGTAAATAATGAGCAGTCCTCAGGGATCATCATG
GATGAGGAGGTCCAAAAGGAATTCGAAGATTTTTGGGAATACTATAAGAGCGATCCCTTTGCAGGAAGGAATGTAATATTGGCTAGCTTGTGCCCTCAAGTGTTT
GGAATGTATCTAGTAAAGCTTGCTGTGGCCATGGTGCTGGCTGGTGGGATTCAAAGGACTGATGCTACAGGAACACGGGTCAGAGGAGAATCTCATCTTTTATTG
GTTGGGGATCCTGGCACAGGGAAATCTCAGTTCCTCAAATATGCAGCAAAGATTACACCAAGATCTGTGCTGACCACAGGAATTGGATCTACTAGTGCAGGTCTG
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>MCM9|254394|protein
MNSDQVTLVGQVFESYVSEYHKNDILLILKERDEDAHYPVVVNAMTLFETNMEIGEYFNMFPSEVLTIFDSALRRSALTILQSLSQPEAVSMKQNLHARISGLPV
CPELVREHIPKTKDVGHFLSVTGTVIRTSLVKVLEFERDYMCNKCKHVFVIKADFEQYYTFCRPSSCPSLESCDSSKFTCLSGLSSSPTRCRDYQEIKIQEQVQR
LSVGSIPRSMKVILEDDLVDSCKSGDDLTIYGIVMQRWKPFQQDVRCEVEIVLKANYIQVNNEQSSGIIMDEEVQKEFEDFWEYYKSDPFAGRNVILASLCPQVF
GMYLVKLAVAMVLAGGIQRTDATGTRVRGESHLLLVGDPGTGKSQFLKYAAKITPRSVLTTGIGSTSAGLTVTAVKDSGEWNLEAGALVLADAGLCCIDEFNSLK
EHDRTSIHEAMEQQTISVAKAGLVCKLNTRTTILAATNPKGQYDPQESVSVNIALGSPLLSRFDLILVLLDTKNEDWDRIISSFILENKGYPSKSEKLWSMEKMK
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MNSDQVTLVGQVFESYVSEYHKNDILLILKERDEDAHYPVVVNAMTLFETNMEIGEYFNMFPSEVLTIFDSALRRSALTILQSLSQPEAVSMKQNLHARISGLPV
CPELVREHIPKTKDVGHFLSVTGTVIRTSLVKVLEFERDYMCNKCKHVFVIKADFEQYYTFCRPSSCPSLESCDSSKFTCLSGLSSSPTRCRDYQEIKIQEQVQR
LSVGSIPRSMKVILEDDLVDSCKSGDDLTIYGIVMQRWKPFQQDVRCEVEIVLKANYIQVNNEQSSGIIMDEEVQKEFEDFWEYYKSDPFAGRNVILASLCPQVF
GMYLVKLAVAMVLAGGIQRTDATGTRVRGESHLLLVGDPGTGKSQFLKYAAKITPRSVLTTGIGSTSAGLTVTAVKDSGEWNLEAGALVLADAGLCCIDEFNSLK
EHDRTSIHEAMEQQTISVAKAGLVCKLNTRTTILAATNPKGQYDPQESVSVNIALGSPLLSRFDLILVLLDTKNEDWDRIISSFILENKGYPSKSEKLWSMEKMK
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Bi C, 2012 | China | GAII | ![]() | ![]() | - | - | - | - | 67 | - |
Low Scale Gene Studies Top
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