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 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top