Evidence Details for MNT
Basic Information Top
Gene Symbol: | MNT ( MAD6,MXD6,ROX,bHLHd3 ) |
---|---|
Gene Full Name: | MAX binding protein |
Band: | 17p13.3 |
Quick Links | Entrez ID:4335; OMIM: 603039; Uniprot ID:MNT_HUMAN; ENSEMBL ID: ENSG00000070444; HGNC ID: 7188 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MNT|4335|nucleotide
ATGAGCATAGAGACGCTACTGGAGGCGGCCCGCTTCCTGGAATGGCAAGCGCAGCAACAACAGAGAGCACGTGAGGAGCAGGAGCGGCTTCGCTTGGAGCAGGAG
CGAGAGCAGGAACAGAAGAAGGCCAATAGCCTGGCCAGGCTGGCACATACCCTTCCTGTGGAGGAACCCCGCATGGAGGCGCCACCCCTGCCTCTGTCTCCACCG
GCTCCCCCGCCGGCACCCCCACCACCACTTGCCACCCCTGCCCCACTGACTGTCATCCCTATCCCTGTGGTGACCAACTCCCCTCAGCCTCTACCCCCACCCCCA
CCCTTGCCCGCGGCAGCCCAGCCTCTGCCCCTGGCGCCTCGTCAGCCGGCCCTGGTTGGCGCCCCCGGACTCAGCATTAAGGAGCCTGCCCCCCTGCCCAGCAGG
CCGCAGGTGCCCACCCCTGCTCCCCTACTGCCGGACTCGAAGGCCACCATTCCACCCAATGGCAGCCCCAAGCCTTTGCAGCCCCTCCCCACGCCTGTCCTGACC
ATAGCGCCACACCCTGGAGTCCAGCCTCAGCTGGCCCCCCAGCAGCCGCCCCCACCCACGCTGGGGACCCTGAAGTTGGCACCAGCTGAAGAAGTCAAATCCAGT
GAACAGAAGAAGAGGCCCGGGGGGATCGGAACCAGAGAAGTCCACAACAAATTGGAGAAGAACAGGAGGGCCCATCTGAAAGAGTGCTTTGAGACCCTGAAGCGG
AACATCCCCAACGTGGATGACAAGAAGACGTCCAATCTGAGCGTGCTGCGGACGGCGCTGCGGTACATCCAGTCCCTGAAGAGGAAGGAGAAGGAATATGAGCAT
GAAATGGAGCGGCTGGCACGTGAGAAGATTGCCACGCAGCAGCGGCTGGCAGAGCTCAAGCACGAGCTGAGCCAGTGGATGGACGTACTGGAGATTGACCGCGTG
CTGCGGCAGACGGGCCAGCCCGAGGATGACCAGGCCTCCACCTCCACCGCCTCTGAGGGTGAGGACAACATAGACGAGGATATGGAGGAGGACCGGGCGGGCCTG
GGCCCACCTAAGCTGAGCCATCGTCCCCAGCCGGAGCTGCTGAAGTCCACCCTGCCACCCCCCAGCACCACCCCTGCGCCTCTGCCTCCACACCCACACCCTCAC
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ATGAGCATAGAGACGCTACTGGAGGCGGCCCGCTTCCTGGAATGGCAAGCGCAGCAACAACAGAGAGCACGTGAGGAGCAGGAGCGGCTTCGCTTGGAGCAGGAG
CGAGAGCAGGAACAGAAGAAGGCCAATAGCCTGGCCAGGCTGGCACATACCCTTCCTGTGGAGGAACCCCGCATGGAGGCGCCACCCCTGCCTCTGTCTCCACCG
GCTCCCCCGCCGGCACCCCCACCACCACTTGCCACCCCTGCCCCACTGACTGTCATCCCTATCCCTGTGGTGACCAACTCCCCTCAGCCTCTACCCCCACCCCCA
CCCTTGCCCGCGGCAGCCCAGCCTCTGCCCCTGGCGCCTCGTCAGCCGGCCCTGGTTGGCGCCCCCGGACTCAGCATTAAGGAGCCTGCCCCCCTGCCCAGCAGG
CCGCAGGTGCCCACCCCTGCTCCCCTACTGCCGGACTCGAAGGCCACCATTCCACCCAATGGCAGCCCCAAGCCTTTGCAGCCCCTCCCCACGCCTGTCCTGACC
ATAGCGCCACACCCTGGAGTCCAGCCTCAGCTGGCCCCCCAGCAGCCGCCCCCACCCACGCTGGGGACCCTGAAGTTGGCACCAGCTGAAGAAGTCAAATCCAGT
GAACAGAAGAAGAGGCCCGGGGGGATCGGAACCAGAGAAGTCCACAACAAATTGGAGAAGAACAGGAGGGCCCATCTGAAAGAGTGCTTTGAGACCCTGAAGCGG
AACATCCCCAACGTGGATGACAAGAAGACGTCCAATCTGAGCGTGCTGCGGACGGCGCTGCGGTACATCCAGTCCCTGAAGAGGAAGGAGAAGGAATATGAGCAT
GAAATGGAGCGGCTGGCACGTGAGAAGATTGCCACGCAGCAGCGGCTGGCAGAGCTCAAGCACGAGCTGAGCCAGTGGATGGACGTACTGGAGATTGACCGCGTG
CTGCGGCAGACGGGCCAGCCCGAGGATGACCAGGCCTCCACCTCCACCGCCTCTGAGGGTGAGGACAACATAGACGAGGATATGGAGGAGGACCGGGCGGGCCTG
GGCCCACCTAAGCTGAGCCATCGTCCCCAGCCGGAGCTGCTGAAGTCCACCCTGCCACCCCCCAGCACCACCCCTGCGCCTCTGCCTCCACACCCACACCCTCAC
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>MNT|4335|protein
MSIETLLEAARFLEWQAQQQQRAREEQERLRLEQEREQEQKKANSLARLAHTLPVEEPRMEAPPLPLSPPAPPPAPPPPLATPAPLTVIPIPVVTNSPQPLPPPP
PLPAAAQPLPLAPRQPALVGAPGLSIKEPAPLPSRPQVPTPAPLLPDSKATIPPNGSPKPLQPLPTPVLTIAPHPGVQPQLAPQQPPPPTLGTLKLAPAEEVKSS
EQKKRPGGIGTREVHNKLEKNRRAHLKECFETLKRNIPNVDDKKTSNLSVLRTALRYIQSLKRKEKEYEHEMERLAREKIATQQRLAELKHELSQWMDVLEIDRV
LRQTGQPEDDQASTSTASEGEDNIDEDMEEDRAGLGPPKLSHRPQPELLKSTLPPPSTTPAPLPPHPHPHPHSVALPPAHLPVQQQQPQQKTPLPAPPPPPAAPA
QTLVPAPAHLVATAGGGSTVIAHTATTHASVIQTVNHVLQGPGGKHIAHIAPSAPSPAVQLAPATPPIGHITVHPATLNHVAHLGSQLPLYPQPVAVSHIAHTLS
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MSIETLLEAARFLEWQAQQQQRAREEQERLRLEQEREQEQKKANSLARLAHTLPVEEPRMEAPPLPLSPPAPPPAPPPPLATPAPLTVIPIPVVTNSPQPLPPPP
PLPAAAQPLPLAPRQPALVGAPGLSIKEPAPLPSRPQVPTPAPLLPDSKATIPPNGSPKPLQPLPTPVLTIAPHPGVQPQLAPQQPPPPTLGTLKLAPAEEVKSS
EQKKRPGGIGTREVHNKLEKNRRAHLKECFETLKRNIPNVDDKKTSNLSVLRTALRYIQSLKRKEKEYEHEMERLAREKIATQQRLAELKHELSQWMDVLEIDRV
LRQTGQPEDDQASTSTASEGEDNIDEDMEEDRAGLGPPKLSHRPQPELLKSTLPPPSTTPAPLPPHPHPHPHSVALPPAHLPVQQQQPQQKTPLPAPPPPPAAPA
QTLVPAPAHLVATAGGGSTVIAHTATTHASVIQTVNHVLQGPGGKHIAHIAPSAPSPAVQLAPATPPIGHITVHPATLNHVAHLGSQLPLYPQPVAVSHIAHTLS
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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 | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
No Evidence. |
Case Control Based Association Studies: 1
Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
MIXED/OTHERS | ||||||||||||
Kuo PH, 2015_1 | Discovery | Affymetrix SNP array 6.0 | 597 (-) | ASD | - - |
- | 1595 (-) |
- - |
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 |
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
Low Scale Gene Studies Top
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