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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for MITF |
 Gene summary |
| Gene information | Gene symbol | MITF | Gene ID | 4286 |
| Gene name | melanogenesis associated transcription factor | |
| Synonyms | CMM8|COMMAD|MI|WS2|WS2A|bHLHe32 | |
| Cytomap | 3p13 | |
| Type of gene | protein-coding | |
| Description | microphthalmia-associated transcription factorclass E basic helix-loop-helix protein 32microphtalmia-associated transcription factor | |
| Modification date | 20180527 | |
| UniProtAcc | O75030 | |
| Context | PubMed: MITF [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MITF | GO:0010628 | positive regulation of gene expression | 22234890 |
| MITF | GO:0045893 | positive regulation of transcription, DNA-templated | 9647758 |
| MITF | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20530484|21209915 |
| MITF | GO:0065003 | protein-containing complex assembly | 20530484 |
| MITF | GO:2000144 | positive regulation of DNA-templated transcription, initiation | 8995290|12204775 |
| MITF | GO:2001141 | regulation of RNA biosynthetic process | 16411896 |
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Exon skipping events across known transcript of Ensembl for MITF from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for MITF |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MITF |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_375820 | 3 | 69788632:69788852:69887744:69887783:69928284:69928498 | 69887744:69887783 | ENSG00000187098.10 | ENST00000495741.1 |
| exon_skip_375822 | 3 | 69788632:69788852:69928284:69928534:69986972:69986986 | 69928284:69928534 | ENSG00000187098.10 | ENST00000448226.2 |
| exon_skip_375834 | 3 | 69987107:69987200:69988248:69988297:69990386:69990482 | 69988248:69988297 | ENSG00000187098.10 | ENST00000478490.1 |
| exon_skip_375835 | 3 | 69987107:69987200:69988248:69988332:69990386:69990482 | 69988248:69988332 | ENSG00000187098.10 | ENST00000472437.1,ENST00000394355.2,ENST00000328528.6,ENST00000352241.4,ENST00000448226.2,ENST00000314557.6,ENST00000314589.5,ENST00000394351.3,ENST00000461014.1,ENST00000451708.1 |
| exon_skip_375837 | 3 | 69998201:69998319:70000962:70001037:70005605:70005681 | 70000962:70001037 | ENSG00000187098.10 | ENST00000448226.2,ENST00000394351.3,ENST00000451708.1,ENST00000478490.1 |
| exon_skip_375838 | 3 | 69998201:69998319:70000980:70001037:70005605:70005681 | 70000980:70001037 | ENSG00000187098.10 | ENST00000472437.1,ENST00000394355.2,ENST00000328528.6,ENST00000352241.4,ENST00000314557.6,ENST00000314589.5,ENST00000531774.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MITF |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_375820 | 3 | 69788632:69788852:69887744:69887783:69928284:69928498 | 69887744:69887783 | ENSG00000187098.10 | ENST00000495741.1 |
| exon_skip_375822 | 3 | 69788632:69788852:69928284:69928534:69986972:69986986 | 69928284:69928534 | ENSG00000187098.10 | ENST00000448226.2 |
| exon_skip_375835 | 3 | 69987107:69987200:69988248:69988332:69990386:69990482 | 69988248:69988332 | ENSG00000187098.10 | ENST00000352241.4,ENST00000448226.2,ENST00000472437.1,ENST00000328528.6,ENST00000451708.1,ENST00000314589.5,ENST00000394355.2,ENST00000314557.6,ENST00000394351.3,ENST00000461014.1 |
| exon_skip_375837 | 3 | 69998201:69998319:70000962:70001037:70005605:70005681 | 70000962:70001037 | ENSG00000187098.10 | ENST00000448226.2,ENST00000451708.1,ENST00000394351.3,ENST00000478490.1 |
| exon_skip_375838 | 3 | 69998201:69998319:70000980:70001037:70005605:70005681 | 70000980:70001037 | ENSG00000187098.10 | ENST00000352241.4,ENST00000472437.1,ENST00000328528.6,ENST00000314589.5,ENST00000394355.2,ENST00000314557.6,ENST00000531774.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MITF |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000448226 | 69928284 | 69928534 | Frame-shift |
| ENST00000448226 | 69988248 | 69988332 | In-frame |
| ENST00000448226 | 70000962 | 70001037 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000448226 | 69928284 | 69928534 | Frame-shift |
| ENST00000448226 | 69988248 | 69988332 | In-frame |
| ENST00000448226 | 70000962 | 70001037 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MITF |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000448226 | 2506 | 526 | 69988248 | 69988332 | 710 | 793 | 194 | 222 |
| ENST00000448226 | 2506 | 526 | 70000962 | 70001037 | 1008 | 1082 | 293 | 318 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000448226 | 2506 | 526 | 69988248 | 69988332 | 710 | 793 | 194 | 222 |
| ENST00000448226 | 2506 | 526 | 70000962 | 70001037 | 1008 | 1082 | 293 | 318 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for MITF |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_375834 | 69988249 | 69988297 | 69988252 | 69988252 | Frame_Shift_Del | T | - | p.F196fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_375835 | 69988249 | 69988332 | 69988252 | 69988252 | Frame_Shift_Del | T | - | p.F196fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_375834 | 69988249 | 69988297 | 69988252 | 69988252 | Frame_Shift_Del | T | - | p.F196fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_375835 | 69988249 | 69988332 | 69988252 | 69988252 | Frame_Shift_Del | T | - | p.F196fs |
| KIRP | TCGA-BQ-7045-01 | exon_skip_375834 | 69988249 | 69988297 | 69988260 | 69988261 | Frame_Shift_Ins | - | T | p.*199fs |
| KIRP | TCGA-BQ-7045-01 | exon_skip_375834 | 69988249 | 69988297 | 69988260 | 69988261 | Frame_Shift_Ins | - | T | p.K198fs |
| KIRP | TCGA-BQ-7045-01 | exon_skip_375835 | 69988249 | 69988332 | 69988260 | 69988261 | Frame_Shift_Ins | - | T | p.*199fs |
| KIRP | TCGA-BQ-7045-01 | exon_skip_375835 | 69988249 | 69988332 | 69988260 | 69988261 | Frame_Shift_Ins | - | T | p.K198fs |
| KIRP | TCGA-A4-7584-01 | exon_skip_375822 | 69928285 | 69928534 | 69928532 | 69928532 | Nonsense_Mutation | A | T | p.K118* |
| KIRP | TCGA-A4-7584-01 | exon_skip_375822 | 69928285 | 69928534 | 69928532 | 69928532 | Nonsense_Mutation | A | T | p.K118X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| EMCBAC1_LUNG | 69928285 | 69928534 | 69928307 | 69928307 | Missense_Mutation | G | A | p.A43T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 69928285 | 69928534 | 69928322 | 69928322 | Missense_Mutation | A | T | p.I48L |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69928285 | 69928534 | 69928322 | 69928322 | Missense_Mutation | A | T | p.I48L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 69928285 | 69928534 | 69928335 | 69928335 | Missense_Mutation | G | C | p.S52T |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69928285 | 69928534 | 69928335 | 69928335 | Missense_Mutation | G | C | p.S52T |
| SNU1040_LARGE_INTESTINE | 69928285 | 69928534 | 69928347 | 69928347 | Missense_Mutation | G | A | p.R56H |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69928285 | 69928534 | 69928398 | 69928398 | Missense_Mutation | G | A | p.R73H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 69928285 | 69928534 | 69928451 | 69928451 | Missense_Mutation | C | G | p.P91A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69928285 | 69928534 | 69928451 | 69928451 | Missense_Mutation | C | G | p.P91A |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69928285 | 69928534 | 69928451 | 69928451 | Missense_Mutation | C | G | p.P91A |
| PANC0504_PANCREAS | 69988249 | 69988332 | 69988259 | 69988259 | Missense_Mutation | A | C | p.K198T |
| PANC0504_PANCREAS | 69988249 | 69988297 | 69988259 | 69988259 | Missense_Mutation | A | C | p.K198T |
| SNU81_LARGE_INTESTINE | 69988249 | 69988332 | 69988284 | 69988284 | Missense_Mutation | G | T | p.E206D |
| SNU81_LARGE_INTESTINE | 69988249 | 69988297 | 69988284 | 69988284 | Missense_Mutation | G | T | p.E206D |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 69988249 | 69988332 | 69988309 | 69988309 | Missense_Mutation | C | A | p.H215N |
| 22RV1_PROSTATE | 69988249 | 69988332 | 69988319 | 69988319 | Missense_Mutation | C | T | p.A218V |
| HEC151_ENDOMETRIUM | 69988249 | 69988332 | 69988319 | 69988319 | Missense_Mutation | C | T | p.A218V |
| MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70000963 | 70001037 | 70001015 | 70001015 | Missense_Mutation | G | T | p.Q311H |
| MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70000981 | 70001037 | 70001015 | 70001015 | Missense_Mutation | G | T | p.Q311H |
| HCC44_LUNG | 69928285 | 69928534 | 69928376 | 69928376 | Nonsense_Mutation | G | T | p.E66* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 69988249 | 69988332 | 69988250 | 69988250 | Splice_Site | G | C | p.G195A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 69988249 | 69988297 | 69988250 | 69988250 | Splice_Site | G | C | p.G195A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MITF |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MITF |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MITF |
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RelatedDrugs for MITF |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MITF |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MITF | C3152204 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 | 2 | CTD_human;ORPHANET;UNIPROT |
| MITF | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| MITF | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| MITF | C0011053 | Deafness | 1 | CTD_human |
| MITF | C0025202 | melanoma | 1 | CTD_human;HPO |
| MITF | C0078918 | Albinism, Oculocutaneous | 1 | CTD_human |
| MITF | C0151779 | Cutaneous Melanoma | 1 | CTD_human |
| MITF | C0391816 | Tietz syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| MITF | C0549567 | Pigmentation Disorders | 1 | CTD_human |
| MITF | C1860339 | WAARDENBURG SYNDROME, TYPE IIA | 1 | CTD_human;UNIPROT |
| MITF | C2700265 | Waardenburg Syndrome Type 2 | 1 | CTD_human;ORPHANET |
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