Evidence Details for MDP1
Basic Information Top
| Gene Symbol: | MDP1 ( FN6Pase,MDP-1,MGC5987 ) |
|---|---|
| Gene Full Name: | magnesium-dependent phosphatase 1 |
| Band: | 14q12 |
| Quick Links | Entrez ID:145553; OMIM: NA; Uniprot ID:MGDP1_HUMAN; ENSEMBL ID: ENSG00000213920; HGNC ID: 28781 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MDP1|145553|nucleotide
ATGGCGCGGCTACCGAAGCTGGCAGTCTTTGATTTGGATTACACTCTCTGGCCTTTCTGGGTCGACACGCACGTAGACCCTCCGTTCCATAAGAGCAGTGATGGA
ACTGTACGAGATAGGCGGGGCCAAGACGTCCGACTGTACCCAGAGGTGCCTGAGGTCCTAAAACGATTGCAGAGCCTTGGGGTGCCCGGTGCGGCTGCTTCAAGG
ACAAGTGAGATAGAAGGGGCCAACCAGCTACTGGAGCTCTTTGACCTCTTCAGGTGTTACCTGCATTCACATCCAGAATGGAATGAATCTTCAAACTCTAAGTCA
AGGGTTAGAGACATTTGCGAAGGCCCAAACTGGGCCTTTGAGGTCCAGCCTTGA
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ATGGCGCGGCTACCGAAGCTGGCAGTCTTTGATTTGGATTACACTCTCTGGCCTTTCTGGGTCGACACGCACGTAGACCCTCCGTTCCATAAGAGCAGTGATGGA
ACTGTACGAGATAGGCGGGGCCAAGACGTCCGACTGTACCCAGAGGTGCCTGAGGTCCTAAAACGATTGCAGAGCCTTGGGGTGCCCGGTGCGGCTGCTTCAAGG
ACAAGTGAGATAGAAGGGGCCAACCAGCTACTGGAGCTCTTTGACCTCTTCAGGTGTTACCTGCATTCACATCCAGAATGGAATGAATCTTCAAACTCTAAGTCA
AGGGTTAGAGACATTTGCGAAGGCCCAAACTGGGCCTTTGAGGTCCAGCCTTGA
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>MDP1|145553|protein
MARLPKLAVFDLDYTLWPFWVDTHVDPPFHKSSDGTVRDRRGQDVRLYPEVPEVLKRLQSLGVPGAAASRTSEIEGANQLLELFDLFRCYLHSHPEWNESSNSKS
RVRDICEGPNWAFEVQP
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MARLPKLAVFDLDYTLWPFWVDTHVDPPFHKSSDGTVRDRRGQDVRLYPEVPEVLKRLQSLGVPGAAASRTSEIEGANQLLELFDLFRCYLHSHPEWNESSNSKS
RVRDICEGPNWAFEVQP
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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 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (4) |
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 | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen | ![]() | ![]() | PDD | 99 | - | 99 | - | - | - | - |
| Auranen, 2002 | Finland | microsatellite-based genomic screen | ![]() | ![]() | autism | 19 | - | 19 | - | 54 | - | - |
| Ma, 2007 | USA | SNP-based genomic screen | ![]() | ![]() | autism | 26 | - | 26 | - | - | - | - |
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 | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | ![]() | ![]() | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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