Evidence Details for MDM1
Basic Information Top
Gene Symbol: | MDM1 ( FLJ95264 ) |
---|---|
Gene Full Name: | Mdm1 nuclear protein homolog (mouse) |
Band: | 12q15 |
Quick Links | Entrez ID:56890; OMIM: NA; Uniprot ID:MDM1_HUMAN; ENSEMBL ID: ENSG00000111554; HGNC ID: 29917 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MDM1|56890|nucleotide
ATGCCGGTGCGCTTCAAGGGGCTGAGTGAATACCAGAGGAACTTCCTGTGGAAAAAGTCTTATTTGTCCGAGTCTTGTAATTCCTCCGTGGGGCGAAAGTACCCA
TGGGCTGGACTTAGATCAGATCAATTAGGCATCACGAAAGAGCCAAGTTTTATTTCAAAAAGAAGAGTCCCTTACCATGACCCACAGATTTCAAAATCTCTGGAG
TGGAATGGAGCTATCTCAGAGAGCAATGTGGTTGCATCACCAGAACCAGAAGCCCCGGAAACACCAAAATCACAAGAAGCAGAACAAAAGGATGTTACTCAAGAA
AGAGTTCACTCACTAGAAGCTTCCAGGGTTCCCAAAAGAACCAGATCTCACTCTGCAGACTCCAGAGCTGAAGGGGCTTCAGATGTGGAAAATAATGAGGGTGTA
ACAAACCATACACCAGTTAATGAAAATGTGGAACTGGAACATTCTACCAAGGTTCTTTCAGAAAATGTAGATAATGGGTTGGATAGACTTCTGCGTAAGAAAGCT
GGATTGACTGTTGTTCCTTCATATAATGCCTTGAGAAATTCTGAATATCAAAGGCAGTTTGTTTGGAAGACTTCTAAAGAAACTGCTCCAGCTTTTGCAGCCAAT
CAGGTTTTCCACAATAAAAGCCAGTTTGTTCCACCATTCAAAGGTAACTCAGTCATCCATGAAACTGAATACAAAAGAAATTTCAAGGGTTTATCTCCAGTGAAA
GAACCAAAATTAAGAAATGATTTGAGAGAAAACAGAAATCTTGAAACAGTGTCTCCTGAAAGGAAGAGTAATAAAATAGACGATCGTTTAAAATTGGAAGCAGAG
ATGGAATTAAAAGACTTACACCAGCCTAAAAGGAAGCTTACTCCTTGGAAACATCAAAGGCTTGGGAAGGTGAATTCCGAATATAGAGCAAAATTTCTGAGCCCA
GCTCAGTATTTATATAAAGCTGGGGCTTGGACACATGTAAAGGGAAACATGCCAAATCAGGTTAAAGAACTCCGAGAAAAGGCTGAGTTTTATAGGAAGCGAGTT
CAGGGGACGCATTTTTCTCGGGACCATCTGAATCAGATTTTATCTGATAGCAACTGCTGTTGGGATGTCTCCTCAACCACAAGCTCAGAAGGAACCGTTAGTAGC
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ATGCCGGTGCGCTTCAAGGGGCTGAGTGAATACCAGAGGAACTTCCTGTGGAAAAAGTCTTATTTGTCCGAGTCTTGTAATTCCTCCGTGGGGCGAAAGTACCCA
TGGGCTGGACTTAGATCAGATCAATTAGGCATCACGAAAGAGCCAAGTTTTATTTCAAAAAGAAGAGTCCCTTACCATGACCCACAGATTTCAAAATCTCTGGAG
TGGAATGGAGCTATCTCAGAGAGCAATGTGGTTGCATCACCAGAACCAGAAGCCCCGGAAACACCAAAATCACAAGAAGCAGAACAAAAGGATGTTACTCAAGAA
AGAGTTCACTCACTAGAAGCTTCCAGGGTTCCCAAAAGAACCAGATCTCACTCTGCAGACTCCAGAGCTGAAGGGGCTTCAGATGTGGAAAATAATGAGGGTGTA
ACAAACCATACACCAGTTAATGAAAATGTGGAACTGGAACATTCTACCAAGGTTCTTTCAGAAAATGTAGATAATGGGTTGGATAGACTTCTGCGTAAGAAAGCT
GGATTGACTGTTGTTCCTTCATATAATGCCTTGAGAAATTCTGAATATCAAAGGCAGTTTGTTTGGAAGACTTCTAAAGAAACTGCTCCAGCTTTTGCAGCCAAT
CAGGTTTTCCACAATAAAAGCCAGTTTGTTCCACCATTCAAAGGTAACTCAGTCATCCATGAAACTGAATACAAAAGAAATTTCAAGGGTTTATCTCCAGTGAAA
GAACCAAAATTAAGAAATGATTTGAGAGAAAACAGAAATCTTGAAACAGTGTCTCCTGAAAGGAAGAGTAATAAAATAGACGATCGTTTAAAATTGGAAGCAGAG
ATGGAATTAAAAGACTTACACCAGCCTAAAAGGAAGCTTACTCCTTGGAAACATCAAAGGCTTGGGAAGGTGAATTCCGAATATAGAGCAAAATTTCTGAGCCCA
GCTCAGTATTTATATAAAGCTGGGGCTTGGACACATGTAAAGGGAAACATGCCAAATCAGGTTAAAGAACTCCGAGAAAAGGCTGAGTTTTATAGGAAGCGAGTT
CAGGGGACGCATTTTTCTCGGGACCATCTGAATCAGATTTTATCTGATAGCAACTGCTGTTGGGATGTCTCCTCAACCACAAGCTCAGAAGGAACCGTTAGTAGC
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>MDM1|56890|protein
MPVRFKGLSEYQRNFLWKKSYLSESCNSSVGRKYPWAGLRSDQLGITKEPSFISKRRVPYHDPQISKSLEWNGAISESNVVASPEPEAPETPKSQEAEQKDVTQE
RVHSLEASRVPKRTRSHSADSRAEGASDVENNEGVTNHTPVNENVELEHSTKVLSENVDNGLDRLLRKKAGLTVVPSYNALRNSEYQRQFVWKTSKETAPAFAAN
QVFHNKSQFVPPFKGNSVIHETEYKRNFKGLSPVKEPKLRNDLRENRNLETVSPERKSNKIDDRLKLEAEMELKDLHQPKRKLTPWKHQRLGKVNSEYRAKFLSP
AQYLYKAGAWTHVKGNMPNQVKELREKAEFYRKRVQGTHFSRDHLNQILSDSNCCWDVSSTTSSEGTVSSNIRALDLAGDPTSHKTLQKCPSTEPEEKGNIVEEQ
PQKNTTEKLGVSAPTIPVRRRLAWDTENTSEDVQKQPGEKEEEDDNEEEGDRKTGKQAFMGEQEKLDVREKSKADKMKEGSDSSVSSEKGGRLPTPKLRELGGIQ
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MPVRFKGLSEYQRNFLWKKSYLSESCNSSVGRKYPWAGLRSDQLGITKEPSFISKRRVPYHDPQISKSLEWNGAISESNVVASPEPEAPETPKSQEAEQKDVTQE
RVHSLEASRVPKRTRSHSADSRAEGASDVENNEGVTNHTPVNENVELEHSTKVLSENVDNGLDRLLRKKAGLTVVPSYNALRNSEYQRQFVWKTSKETAPAFAAN
QVFHNKSQFVPPFKGNSVIHETEYKRNFKGLSPVKEPKLRNDLRENRNLETVSPERKSNKIDDRLKLEAEMELKDLHQPKRKLTPWKHQRLGKVNSEYRAKFLSP
AQYLYKAGAWTHVKGNMPNQVKELREKAEFYRKRVQGTHFSRDHLNQILSDSNCCWDVSSTTSSEGTVSSNIRALDLAGDPTSHKTLQKCPSTEPEEKGNIVEEQ
PQKNTTEKLGVSAPTIPVRRRLAWDTENTSEDVQKQPGEKEEEDDNEEEGDRKTGKQAFMGEQEKLDVREKSKADKMKEGSDSSVSSEKGGRLPTPKLRELGGIQ
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (3) |
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 | ||||||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 1491 | - | - | - | - | - | 0 |
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
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Cukier HN, 2014 | - | Illumina HiSeq 2000 | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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