|
||||||
|
 | |
| |
| |
| |
| 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 TIMM17A |
 Gene summary |
| Gene information | Gene symbol | TIMM17A | Gene ID | 10440 |
| Gene name | translocase of inner mitochondrial membrane 17A | |
| Synonyms | TIM17|TIM17A | |
| Cytomap | 1q32.1 | |
| Type of gene | protein-coding | |
| Description | mitochondrial import inner membrane translocase subunit Tim17-Ainner membrane preprotein translocase Tim17amitochondrial inner membrane translocasepreprotein translocasetranslocase of inner mitochondrial membrane 17 homolog A | |
| Modification date | 20180523 | |
| UniProtAcc | Q99595 | |
| Context | PubMed: TIMM17A [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 |
Top |
Exon skipping events across known transcript of Ensembl for TIMM17A 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 TIMM17A |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for TIMM17A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_16543 | 1 | 201924637:201924680:201926408:201926508:201926638:201926702 | 201926408:201926508 | ENSG00000134375.6 | ENST00000484647.1,ENST00000478378.1 |
| exon_skip_16552 | 1 | 201926638:201926702:201931931:201932052:201932743:201932872 | 201931931:201932052 | ENSG00000134375.6 | ENST00000478378.1 |
| exon_skip_16557 | 1 | 201926638:201926702:201932743:201932872:201934560:201934671 | 201932743:201932872 | ENSG00000134375.6 | ENST00000367287.4 |
| exon_skip_16564 | 1 | 201932743:201932872:201934560:201934671:201938596:201938845 | 201934560:201934671 | ENSG00000134375.6 | ENST00000482943.1,ENST00000367287.4,ENST00000478378.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for TIMM17A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_16543 | 1 | 201924637:201924680:201926408:201926508:201926638:201926702 | 201926408:201926508 | ENSG00000134375.6 | ENST00000478378.1,ENST00000484647.1 |
| exon_skip_16552 | 1 | 201926638:201926702:201931931:201932052:201932743:201932872 | 201931931:201932052 | ENSG00000134375.6 | ENST00000478378.1 |
| exon_skip_16557 | 1 | 201926638:201926702:201932743:201932872:201934560:201934671 | 201932743:201932872 | ENSG00000134375.6 | ENST00000367287.4 |
| exon_skip_16564 | 1 | 201932743:201932872:201934560:201934671:201938596:201938845 | 201934560:201934671 | ENSG00000134375.6 | ENST00000367287.4,ENST00000478378.1,ENST00000482943.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TIMM17A |
| 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 |
| ENST00000367287 | 201932743 | 201932872 | In-frame |
| ENST00000367287 | 201934560 | 201934671 | 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 |
| ENST00000367287 | 201932743 | 201932872 | In-frame |
| ENST00000367287 | 201934560 | 201934671 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for TIMM17A |
| 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 |
| ENST00000367287 | 1676 | 171 | 201932743 | 201932872 | 227 | 355 | 63 | 106 |
| ENST00000367287 | 1676 | 171 | 201934560 | 201934671 | 356 | 466 | 106 | 143 |
| 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 |
| ENST00000367287 | 1676 | 171 | 201932743 | 201932872 | 227 | 355 | 63 | 106 |
| ENST00000367287 | 1676 | 171 | 201934560 | 201934671 | 356 | 466 | 106 | 143 |
| 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 |
| Q99595 | 63 | 106 | 1 | 171 | Chain | ID=PRO_0000210284;Note=Mitochondrial import inner membrane translocase subunit Tim17-A |
| Q99595 | 63 | 106 | 9 | 78 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39515 |
| Q99595 | 63 | 106 | 63 | 77 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99595 | 106 | 143 | 1 | 171 | Chain | ID=PRO_0000210284;Note=Mitochondrial import inner membrane translocase subunit Tim17-A |
| Q99595 | 106 | 143 | 113 | 113 | Natural variant | ID=VAR_052305;Note=V->I;Dbxref=dbSNP:rs4648 |
| Q99595 | 106 | 143 | 113 | 133 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q99595 | 63 | 106 | 1 | 171 | Chain | ID=PRO_0000210284;Note=Mitochondrial import inner membrane translocase subunit Tim17-A |
| Q99595 | 63 | 106 | 9 | 78 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39515 |
| Q99595 | 63 | 106 | 63 | 77 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99595 | 106 | 143 | 1 | 171 | Chain | ID=PRO_0000210284;Note=Mitochondrial import inner membrane translocase subunit Tim17-A |
| Q99595 | 106 | 143 | 113 | 113 | Natural variant | ID=VAR_052305;Note=V->I;Dbxref=dbSNP:rs4648 |
| Q99595 | 106 | 143 | 113 | 133 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
SNVs in the skipped exons for TIMM17A |
| - 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_16543 | 201926409 | 201926508 | 201926443 | 201926443 | Frame_Shift_Del | T | - | p.F21fs |
| BLCA | TCGA-FD-A5BV-01 | exon_skip_16543 | 201926409 | 201926508 | 201926456 | 201926456 | Frame_Shift_Del | C | - | p.T25fs |
| STAD | TCGA-HF-7132-01 | exon_skip_16543 | 201926409 | 201926508 | 201926416 | 201926416 | Nonsense_Mutation | C | T | p.R12* |
| STAD | TCGA-HF-7132-01 | exon_skip_16543 | 201926409 | 201926508 | 201926416 | 201926416 | Nonsense_Mutation | C | T | p.R12X |
| - 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 |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 201926409 | 201926508 | 201926495 | 201926495 | Missense_Mutation | G | A | p.R38H |
| K2_SKIN | 201932744 | 201932872 | 201932774 | 201932774 | Missense_Mutation | C | T | p.S74F |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 201932744 | 201932872 | 201932777 | 201932777 | Missense_Mutation | T | C | p.M75T |
| SNU601_STOMACH | 201932744 | 201932872 | 201932781 | 201932781 | Missense_Mutation | T | G | p.I76M |
| AU565_BREAST | 201932744 | 201932872 | 201932809 | 201932809 | Missense_Mutation | A | G | p.K86E |
| ISTSL1_LUNG | 201934561 | 201934671 | 201934573 | 201934573 | Missense_Mutation | C | T | p.A111V |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TIMM17A |
| 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 TIMM17A |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TIMM17A |
Top |
RelatedDrugs for TIMM17A |
| 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 TIMM17A |
| 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)
|