AutismKB 2.0

Evidence Details for MDM1


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Basic Information Top
Gene Symbol:MDM1 ( FLJ95264 )
Gene Full Name: Mdm1 nuclear protein homolog (mouse)
Band: 12q15
Quick LinksEntrez 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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>MDM1|56890|protein
MPVRFKGLSEYQRNFLWKKSYLSESCNSSVGRKYPWAGLRSDQLGITKEPSFISKRRVPYHDPQISKSLEWNGAISESNVVASPEPEAPETPKSQEAEQKDVTQE
RVHSLEASRVPKRTRSHSADSRAEGASDVENNEGVTNHTPVNENVELEHSTKVLSENVDNGLDRLLRKKAGLTVVPSYNALRNSEYQRQFVWKTSKETAPAFAAN
QVFHNKSQFVPPFKGNSVIHETEYKRNFKGLSPVKEPKLRNDLRENRNLETVSPERKSNKIDDRLKLEAEMELKDLHQPKRKLTPWKHQRLGKVNSEYRAKFLSP
AQYLYKAGAWTHVKGNMPNQVKELREKAEFYRKRVQGTHFSRDHLNQILSDSNCCWDVSSTTSSEGTVSSNIRALDLAGDPTSHKTLQKCPSTEPEEKGNIVEEQ
PQKNTTEKLGVSAPTIPVRRRLAWDTENTSEDVQKQPGEKEEEDDNEEEGDRKTGKQAFMGEQEKLDVREKSKADKMKEGSDSSVSSEKGGRLPTPKLRELGGIQ
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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 (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 microarrayASD 1491 - - - - - 0
Linkage Studies Top