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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for MIF4GD |
Gene summary |
Gene information | Gene symbol | MIF4GD | Gene ID | 57409 |
Gene name | MIF4G domain containing | |
Synonyms | AD023|MIFD|SLIP1 | |
Cytomap | 17q25.1 | |
Type of gene | protein-coding | |
Description | MIF4G domain-containing proteinSLBP (stem loop binding protein)-interacting protein 1SLBP-interacting protein 1 | |
Modification date | 20180523 | |
UniProtAcc | A9UHW6 | |
Context | PubMed: MIF4GD [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 |
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Exon skipping events across known transcript of Ensembl for MIF4GD 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 MIF4GD |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MIF4GD |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_293292 | 17 | 73263013:73263048:73263531:73263711:73264163:73264273 | 73263531:73263711 | ENSG00000125457.9 | ENST00000579612.1 |
exon_skip_293295 | 17 | 73263013:73263048:73263618:73263711:73264163:73264273 | 73263618:73263711 | ENSG00000125457.9 | ENST00000580571.1 |
exon_skip_293298 | 17 | 73263670:73263711:73263826:73263982:73264163:73264273 | 73263826:73263982 | ENSG00000125457.9 | ENST00000245551.5,ENST00000579297.1,ENST00000577542.1,ENST00000579119.1,ENST00000325102.8,ENST00000580717.1 |
exon_skip_293303 | 17 | 73263670:73263711:73264163:73264273:73266194:73266258 | 73264163:73264273 | ENSG00000125457.9 | ENST00000580571.1 |
exon_skip_293307 | 17 | 73263904:73263982:73264163:73264273:73266194:73266258 | 73264163:73264273 | ENSG00000125457.9 | ENST00000581777.1,ENST00000579119.1,ENST00000325102.8,ENST00000580717.1 |
exon_skip_293309 | 17 | 73264163:73264273:73265427:73265529:73266194:73266258 | 73265427:73265529 | ENSG00000125457.9 | ENST00000245551.5,ENST00000579612.1 |
exon_skip_293311 | 17 | 73264163:73264273:73265427:73265550:73266194:73266227 | 73265427:73265550 | ENSG00000125457.9 | ENST00000577240.1,ENST00000579194.1,ENST00000579297.1,ENST00000577542.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MIF4GD |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_293298 | 17 | 73263670:73263711:73263826:73263982:73264163:73264273 | 73263826:73263982 | ENSG00000125457.9 | ENST00000325102.8,ENST00000245551.5,ENST00000579297.1,ENST00000577542.1,ENST00000579119.1,ENST00000580717.1 |
exon_skip_293303 | 17 | 73263670:73263711:73264163:73264273:73266194:73266258 | 73264163:73264273 | ENSG00000125457.9 | ENST00000580571.1 |
exon_skip_293307 | 17 | 73263904:73263982:73264163:73264273:73266194:73266258 | 73264163:73264273 | ENSG00000125457.9 | ENST00000325102.8,ENST00000579119.1,ENST00000580717.1,ENST00000581777.1 |
exon_skip_293309 | 17 | 73264163:73264273:73265427:73265529:73266194:73266258 | 73265427:73265529 | ENSG00000125457.9 | ENST00000245551.5,ENST00000579612.1 |
exon_skip_293311 | 17 | 73264163:73264273:73265427:73265550:73266194:73266227 | 73265427:73265550 | ENSG00000125457.9 | ENST00000579297.1,ENST00000577542.1,ENST00000577240.1,ENST00000579194.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MIF4GD |
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 |
ENST00000325102 | 73264163 | 73264273 | Frame-shift |
ENST00000325102 | 73263826 | 73263982 | 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 |
ENST00000325102 | 73264163 | 73264273 | Frame-shift |
ENST00000325102 | 73263826 | 73263982 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MIF4GD |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000325102 | 1323 | 222 | 73263826 | 73263982 | 318 | 473 | 64 | 116 |
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 |
ENST00000325102 | 1323 | 222 | 73263826 | 73263982 | 318 | 473 | 64 | 116 |
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 |
A9UHW6 | 64 | 116 | 1 | 222 | Chain | ID=PRO_0000337089;Note=MIF4G domain-containing protein |
A9UHW6 | 64 | 116 | 3 | 205 | Domain | Note=MIF4G |
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 |
A9UHW6 | 64 | 116 | 1 | 222 | Chain | ID=PRO_0000337089;Note=MIF4G domain-containing protein |
A9UHW6 | 64 | 116 | 3 | 205 | Domain | Note=MIF4G |
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SNVs in the skipped exons for MIF4GD |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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 |
BRCA | TCGA-A2-A04V-01 | exon_skip_293303 exon_skip_293307 | 73264164 | 73264273 | 73264205 | 73264206 | Frame_Shift_Del | AC | - | p.F85fs |
OV | TCGA-61-2092-01 | exon_skip_293298 | 73263827 | 73263982 | 73263913 | 73263913 | Nonsense_Mutation | G | A | p.Q129* |
- 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 |
SKLU1_LUNG | 73263619 | 73263711 | 73263638 | 73263641 | Frame_Shift_Del | CTGT | - | p.DS140fs |
SKLU1_LUNG | 73263532 | 73263711 | 73263638 | 73263641 | Frame_Shift_Del | CTGT | - | p.DS140fs |
OC316_OVARY | 73263619 | 73263711 | 73263689 | 73263689 | Missense_Mutation | G | A | p.A124V |
OC316_OVARY | 73263532 | 73263711 | 73263689 | 73263689 | Missense_Mutation | G | A | p.A124V |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73263827 | 73263982 | 73263889 | 73263889 | Missense_Mutation | G | A | p.R96C |
BICR18_UPPER_AERODIGESTIVE_TRACT | 73263827 | 73263982 | 73263889 | 73263889 | Missense_Mutation | G | A | p.R96C |
451LU_SKIN | 73263827 | 73263982 | 73263907 | 73263907 | Missense_Mutation | G | A | p.R90W |
NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73263827 | 73263982 | 73263907 | 73263907 | Missense_Mutation | G | A | p.R90W |
MFE319_ENDOMETRIUM | 73263827 | 73263982 | 73263948 | 73263948 | Missense_Mutation | C | A | p.R76L |
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73263827 | 73263982 | 73263967 | 73263967 | Missense_Mutation | C | T | p.A70T |
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73264164 | 73264273 | 73264175 | 73264175 | Missense_Mutation | C | T | p.A61T |
HEC251_ENDOMETRIUM | 73264164 | 73264273 | 73264187 | 73264187 | Missense_Mutation | G | A | p.R57C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MIF4GD |
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 MIF4GD |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MIF4GD |
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RelatedDrugs for MIF4GD |
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 MIF4GD |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |