Evidence Details for MXD4
Basic Information Top
| Gene Symbol: | MXD4 ( MAD4,MST149,MSTP149,bHLHc12 ) |
|---|---|
| Gene Full Name: | MAX dimerization protein 4 |
| Band: | 4p16.3 |
| Quick Links | Entrez ID:10608; OMIM: NA; Uniprot ID:MAD4_HUMAN; ENSEMBL ID: ENSG00000123933; HGNC ID: 13906 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MXD4|10608|nucleotide
ATGGAGCTGAACTCCCTGCTGATCCTGCTGGAGGCGGCCGAGTACCTGGAGCGCAGGGATCGAGAGGCCGAGCACGGCTACGCCTCGGTGCTGCCCTTCGACGGC
GACTTCGCCAGGGAGAAAACAAAGGCGGCCGGCCTGGTGCGCAAGGCCCCGAACAACAGGTCTTCACACAACGAGCTAGAAAAGCACAGACGAGCCAAACTCAGG
CTGTACCTTGAGCAGCTCAAGCAACTGGTGCCCCTGGGCCCCGACAGCACCCGCCACACCACGCTGAGCCTCCTGAAGCGGGCCAAGGTGCACATCAAGAAACTG
GAGGAGCAGGACCGCCGGGCACTGAGCATCAAGGAGCAGCTGCAGCAGGAGCATCGTTTCCTGAAGCGGCGCCTGGAGCAGCTGTCGGTGCAGAGCGTGGAGCGC
GTGCGCACAGATAGCACGGGCTCTGCTGTCTCCACGGACGACTCAGAGCAAGAAGTGGACATAGAGGGCATGGAGTTTGGCCCTGGTGAGCTGGACAGTGTTGGC
AGCAGCAGTGACGCGGACGACCACTACAGCCTGCAGAGTGGCACCGGCGGCGACAGTGGCTTCGGGCCCCACTGCCGGCGGCTGGGCCGCCCCGCCCTCTCGTAG
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ATGGAGCTGAACTCCCTGCTGATCCTGCTGGAGGCGGCCGAGTACCTGGAGCGCAGGGATCGAGAGGCCGAGCACGGCTACGCCTCGGTGCTGCCCTTCGACGGC
GACTTCGCCAGGGAGAAAACAAAGGCGGCCGGCCTGGTGCGCAAGGCCCCGAACAACAGGTCTTCACACAACGAGCTAGAAAAGCACAGACGAGCCAAACTCAGG
CTGTACCTTGAGCAGCTCAAGCAACTGGTGCCCCTGGGCCCCGACAGCACCCGCCACACCACGCTGAGCCTCCTGAAGCGGGCCAAGGTGCACATCAAGAAACTG
GAGGAGCAGGACCGCCGGGCACTGAGCATCAAGGAGCAGCTGCAGCAGGAGCATCGTTTCCTGAAGCGGCGCCTGGAGCAGCTGTCGGTGCAGAGCGTGGAGCGC
GTGCGCACAGATAGCACGGGCTCTGCTGTCTCCACGGACGACTCAGAGCAAGAAGTGGACATAGAGGGCATGGAGTTTGGCCCTGGTGAGCTGGACAGTGTTGGC
AGCAGCAGTGACGCGGACGACCACTACAGCCTGCAGAGTGGCACCGGCGGCGACAGTGGCTTCGGGCCCCACTGCCGGCGGCTGGGCCGCCCCGCCCTCTCGTAG
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>MXD4|10608|protein
MELNSLLILLEAAEYLERRDREAEHGYASVLPFDGDFAREKTKAAGLVRKAPNNRSSHNELEKHRRAKLRLYLEQLKQLVPLGPDSTRHTTLSLLKRAKVHIKKL
EEQDRRALSIKEQLQQEHRFLKRRLEQLSVQSVERVRTDSTGSAVSTDDSEQEVDIEGMEFGPGELDSVGSSSDADDHYSLQSGTGGDSGFGPHCRRLGRPALS
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MELNSLLILLEAAEYLERRDREAEHGYASVLPFDGDFAREKTKAAGLVRKAPNNRSSHNELEKHRRAKLRLYLEQLKQLVPLGPDSTRHTTLSLLKRAKVHIKKL
EEQDRRALSIKEQLQQEHRFLKRRLEQLSVQSVERVRTDSTGSAVSTDDSEQEVDIEGMEFGPGELDSVGSSSDADDHYSLQSGTGGDSGFGPHCRRLGRPALS
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Evidence summary TopClick 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 (2) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV 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 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top