Evidence Details for MITF
Basic Information Top
| Gene Symbol: | MITF ( MI,WS2A,bHLHe32 ) |
|---|---|
| Gene Full Name: | microphthalmia-associated transcription factor |
| Band: | 3p13 |
| Quick Links | Entrez ID:4286; OMIM: 156845; Uniprot ID:MITF_HUMAN; ENSEMBL ID: ENSG00000187098; HGNC ID: 7105 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MITF|4286|nucleotide
ATGCTGGAAATGCTAGAATATAATCACTATCAGGTGCAGACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGTAAAGCAGTAC
CTTTCTACCACTTTAGCAAATAAACATGCCAACCAAGTCCTGAGCTTGCCATGTCCAAACCAGCCTGGCGATCATGTCATGCCACCGGTGCCGGGGAGCAGCGCA
CCCAACAGCCCCATGGCTATGCTTACGCTTAACTCCAACTGTGAAAAAGAGGGATTTTATAAGTTTGAAGAGCAAAACAGGGCAGAGAGCGAGTGCCCAGGCATG
AACACACATTCACGAGCGTCCTGTATGCAGATGGATGATGTAATCGATGACATCATTAGCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCT
GCTTTGCAAATGGCAAATACGTTGCCTGTCTCGGGAAACTTGATTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCA
GCCAACCTTCCCAACATAAAAAGGGAGCTCACAGCGTGTATTTTTCCCACAGAGTCTGAAGCAAGAGCACTGGCCAAAGAGAGGCAGAAAAAGGACAATCACAAC
CTGATTGAACGAAGAAGAAGATTTAACATAAATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCAGACATGCGCTGGAACAAGGGAACC
ATCTTAAAAGCATCCGTGGACTATATCCGAAAGTTGCAACGAGAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACGCCAACCGGCAT
TTGTTGCTCAGAATACAGGAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTTATTCCATCCACGGGTCTCTGCTCTCCAGATTTGGTGAATCGGATCATC
AAGCAAGAACCCGTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACCTAACCTGTACAACAACTCTCGATCTCACGGATGGCACCATCACCTTC
AACAACAACCTCGGAACTGGGACTGAGGCCAACCAAGCCTATAGTGTCCCCACAAAAATGGGATCCAAACTGGAAGACATCCTGATGGACGACACCCTTTCTCCC
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ATGCTGGAAATGCTAGAATATAATCACTATCAGGTGCAGACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGTAAAGCAGTAC
CTTTCTACCACTTTAGCAAATAAACATGCCAACCAAGTCCTGAGCTTGCCATGTCCAAACCAGCCTGGCGATCATGTCATGCCACCGGTGCCGGGGAGCAGCGCA
CCCAACAGCCCCATGGCTATGCTTACGCTTAACTCCAACTGTGAAAAAGAGGGATTTTATAAGTTTGAAGAGCAAAACAGGGCAGAGAGCGAGTGCCCAGGCATG
AACACACATTCACGAGCGTCCTGTATGCAGATGGATGATGTAATCGATGACATCATTAGCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCT
GCTTTGCAAATGGCAAATACGTTGCCTGTCTCGGGAAACTTGATTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCA
GCCAACCTTCCCAACATAAAAAGGGAGCTCACAGCGTGTATTTTTCCCACAGAGTCTGAAGCAAGAGCACTGGCCAAAGAGAGGCAGAAAAAGGACAATCACAAC
CTGATTGAACGAAGAAGAAGATTTAACATAAATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCAGACATGCGCTGGAACAAGGGAACC
ATCTTAAAAGCATCCGTGGACTATATCCGAAAGTTGCAACGAGAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACGCCAACCGGCAT
TTGTTGCTCAGAATACAGGAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTTATTCCATCCACGGGTCTCTGCTCTCCAGATTTGGTGAATCGGATCATC
AAGCAAGAACCCGTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACCTAACCTGTACAACAACTCTCGATCTCACGGATGGCACCATCACCTTC
AACAACAACCTCGGAACTGGGACTGAGGCCAACCAAGCCTATAGTGTCCCCACAAAAATGGGATCCAAACTGGAAGACATCCTGATGGACGACACCCTTTCTCCC
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>MITF|4286|protein
MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGM
NTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHN
LIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRII
KQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC
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MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGM
NTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHN
LIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRII
KQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC
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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 (1) | 0 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.