|
||||||
|
 | |
| |
| |
| |
| 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 MDFIC |
 Gene summary |
| Gene information | Gene symbol | MDFIC | Gene ID | 29969 |
| Gene name | MyoD family inhibitor domain containing | |
| Synonyms | HIC|MDFIC1 | |
| Cytomap | 7q31.1-q31.2 | |
| Type of gene | protein-coding | |
| Description | myoD family inhibitor domain-containing proteinI-mfa domain-containing protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q9P1T7 | |
| Context | PubMed: MDFIC [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 |
| MDFIC | GO:0007257 | activation of JUN kinase activity | 12192039 |
| MDFIC | GO:0030111 | regulation of Wnt signaling pathway | 12192039 |
| MDFIC | GO:0045893 | positive regulation of transcription, DNA-templated | 12944466 |
| MDFIC | GO:0050434 | positive regulation of viral transcription | 10671520 |
Top |
Exon skipping events across known transcript of Ensembl for MDFIC 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. |
 |
Top |
Gene isoform structures and expression levels for MDFIC |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for MDFIC |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_470614 | 7 | 114562615:114562691:114562981:114563182:114582329:114582452 | 114562981:114563182 | ENSG00000135272.5 | ENST00000257724.3 |
| exon_skip_470616 | 7 | 114563130:114563182:114582329:114582452:114619560:114619836 | 114582329:114582452 | ENSG00000135272.5 | ENST00000393486.1,ENST00000257724.3,ENST00000431629.1,ENST00000427207.1 |
| exon_skip_470621 | 7 | 114582329:114582452:114619560:114619836:114655741:114655819 | 114619560:114619836 | ENSG00000135272.5 | ENST00000393486.1,ENST00000257724.3,ENST00000498196.1 |
| exon_skip_470626 | 7 | 114619560:114619836:114654516:114654587:114655741:114655819 | 114654516:114654587 | ENSG00000135272.5 | ENST00000431629.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for MDFIC |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_470616 | 7 | 114563130:114563182:114582329:114582452:114619560:114619836 | 114582329:114582452 | ENSG00000135272.5 | ENST00000393486.1,ENST00000257724.3,ENST00000431629.1,ENST00000427207.1 |
| exon_skip_470621 | 7 | 114582329:114582452:114619560:114619836:114655741:114655819 | 114619560:114619836 | ENSG00000135272.5 | ENST00000393486.1,ENST00000257724.3,ENST00000498196.1 |
| exon_skip_470626 | 7 | 114619560:114619836:114654516:114654587:114655741:114655819 | 114654516:114654587 | ENSG00000135272.5 | ENST00000431629.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for MDFIC |
| 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 |
| 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 |
Top |
Infer the effects of exon skipping event on protein functional features for MDFIC |
| 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 |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for MDFIC |
| - 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 |
| HNSC | TCGA-DQ-5629-01 | exon_skip_470614 | 114562982 | 114563182 | 114563068 | 114563068 | Frame_Shift_Del | G | - | p.A103fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_470621 | 114619561 | 114619836 | 114619677 | 114619677 | Frame_Shift_Del | G | - | p.G221fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_470621 | 114619561 | 114619836 | 114619729 | 114619729 | Frame_Shift_Del | A | - | p.Q129fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_470621 | 114619561 | 114619836 | 114619729 | 114619729 | Frame_Shift_Del | A | - | p.Q129fs |
| BRCA | TCGA-E9-A22H-01 | exon_skip_470621 | 114619561 | 114619836 | 114619630 | 114619631 | Frame_Shift_Ins | - | A | p.N98fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_470621 | 114619561 | 114619836 | 114619805 | 114619806 | Frame_Shift_Ins | - | T | p.VF154fs |
| UCEC | TCGA-AP-A059-01 | exon_skip_470616 | 114582330 | 114582452 | 114582421 | 114582421 | Nonsense_Mutation | G | A | p.W62* |
| SKCM | TCGA-D3-A1Q6-06 | exon_skip_470621 | 114619561 | 114619836 | 114619728 | 114619728 | Nonsense_Mutation | C | T | p.Q238* |
| SKCM | TCGA-D3-A1Q6-06 | exon_skip_470621 | 114619561 | 114619836 | 114619728 | 114619728 | Nonsense_Mutation | C | T | p.Q238X |
| SKCM | TCGA-FS-A1Z3-06 | exon_skip_470621 | 114619561 | 114619836 | 114619749 | 114619749 | Nonsense_Mutation | C | T | p.Q136* |
| SKCM | TCGA-FS-A1Z3-06 | exon_skip_470621 | 114619561 | 114619836 | 114619749 | 114619749 | Nonsense_Mutation | C | T | p.Q245X |
| SKCM | TCGA-FS-A4F5-06 | exon_skip_470621 | 114619561 | 114619836 | 114619812 | 114619812 | Nonsense_Mutation | C | T | p.Q157* |
| SKCM | TCGA-FS-A4F5-06 | exon_skip_470621 | 114619561 | 114619836 | 114619812 | 114619812 | Nonsense_Mutation | C | T | p.Q266X |
| - 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 |
| MHHCALL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114562982 | 114563182 | 114563018 | 114563018 | Missense_Mutation | C | T | p.P86L |
| HCC2279_LUNG | 114562982 | 114563182 | 114563123 | 114563123 | Missense_Mutation | C | T | p.P12L |
| SKUT1_SOFT_TISSUE | 114619561 | 114619836 | 114619572 | 114619572 | Missense_Mutation | C | T | p.R77C |
| HS766T_PANCREAS | 114619561 | 114619836 | 114619620 | 114619620 | Missense_Mutation | A | C | p.I93L |
| SNU81_LARGE_INTESTINE | 114619561 | 114619836 | 114619705 | 114619705 | Missense_Mutation | G | A | p.R121H |
| HT115_LARGE_INTESTINE | 114619561 | 114619836 | 114619725 | 114619725 | Missense_Mutation | T | C | p.S128P |
| SW620_LARGE_INTESTINE | 114619561 | 114619836 | 114619824 | 114619824 | Missense_Mutation | T | C | p.S161P |
| SISO_CERVIX | 114619561 | 114619836 | 114619569 | 114619569 | Nonsense_Mutation | C | T | p.Q76* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MDFIC |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MDFIC |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MDFIC |
Top |
RelatedDrugs for MDFIC |
| 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 |
Top |
RelatedDiseases for MDFIC |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|