|
||||||
|
 | |
| |
| |
| |
| 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 HEATR5B |
 Gene summary |
| Gene information | Gene symbol | HEATR5B | Gene ID | 54497 |
| Gene name | HEAT repeat containing 5B | |
| Synonyms | - | |
| Cytomap | 2p22.2 | |
| Type of gene | protein-coding | |
| Description | HEAT repeat-containing protein 5B | |
| Modification date | 20180523 | |
| UniProtAcc | Q9P2D3 | |
| Context | PubMed: HEATR5B [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 HEATR5B 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 HEATR5B |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for HEATR5B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_338277 | 2 | 37208152:37208937:37215788:37216002:37217790:37217939 | 37215788:37216002 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338283 | 2 | 37215788:37216002:37217790:37217942:37227728:37227956 | 37217790:37217942 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338284 | 2 | 37217790:37217942:37227728:37227956:37229448:37229715 | 37227728:37227956 | ENSG00000008869.7 | ENST00000233099.5 |
| exon_skip_338286 | 2 | 37227728:37227956:37229448:37229715:37230684:37230822 | 37229448:37229715 | ENSG00000008869.7 | ENST00000233099.5 |
| exon_skip_338287 | 2 | 37232774:37232902:37234192:37234447:37235753:37235991 | 37234192:37234447 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338288 | 2 | 37235753:37235991:37240983:37241163:37246951:37247020 | 37240983:37241163 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338289 | 2 | 37246951:37247020:37247797:37247979:37255065:37255317 | 37247797:37247979 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338291 | 2 | 37268275:37268435:37276795:37276986:37280644:37280750 | 37276795:37276986 | ENSG00000008869.7 | ENST00000467978.1,ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338293 | 2 | 37287723:37287876:37289081:37289193:37291882:37292133 | 37289081:37289193 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338295 | 2 | 37297372:37297530:37299252:37299424:37302627:37302777 | 37299252:37299424 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338297 | 2 | 37304053:37304162:37306262:37306474:37310431:37310579 | 37306262:37306474 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for HEATR5B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_338277 | 2 | 37208152:37208937:37215788:37216002:37217790:37217939 | 37215788:37216002 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338283 | 2 | 37215788:37216002:37217790:37217942:37227728:37227956 | 37217790:37217942 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338284 | 2 | 37217790:37217942:37227728:37227956:37229448:37229715 | 37227728:37227956 | ENSG00000008869.7 | ENST00000233099.5 |
| exon_skip_338286 | 2 | 37227728:37227956:37229448:37229715:37230684:37230822 | 37229448:37229715 | ENSG00000008869.7 | ENST00000233099.5 |
| exon_skip_338287 | 2 | 37232774:37232902:37234192:37234447:37235753:37235991 | 37234192:37234447 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338288 | 2 | 37235753:37235991:37240983:37241163:37246951:37247020 | 37240983:37241163 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338289 | 2 | 37246951:37247020:37247797:37247979:37255065:37255317 | 37247797:37247979 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338291 | 2 | 37268275:37268435:37276795:37276986:37280644:37280750 | 37276795:37276986 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2,ENST00000467978.1 |
| exon_skip_338293 | 2 | 37287723:37287876:37289081:37289193:37291882:37292133 | 37289081:37289193 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338295 | 2 | 37297372:37297530:37299252:37299424:37302627:37302777 | 37299252:37299424 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| exon_skip_338297 | 2 | 37304053:37304162:37306262:37306474:37310431:37310579 | 37306262:37306474 | ENSG00000008869.7 | ENST00000233099.5,ENST00000354531.2 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for HEATR5B |
| 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 |
| ENST00000233099 | 37215788 | 37216002 | Frame-shift |
| ENST00000233099 | 37217790 | 37217942 | Frame-shift |
| ENST00000233099 | 37247797 | 37247979 | Frame-shift |
| ENST00000233099 | 37276795 | 37276986 | Frame-shift |
| ENST00000233099 | 37289081 | 37289193 | Frame-shift |
| ENST00000233099 | 37299252 | 37299424 | Frame-shift |
| ENST00000233099 | 37306262 | 37306474 | Frame-shift |
| ENST00000233099 | 37227728 | 37227956 | In-frame |
| ENST00000233099 | 37229448 | 37229715 | In-frame |
| ENST00000233099 | 37234192 | 37234447 | In-frame |
| ENST00000233099 | 37240983 | 37241163 | 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 |
| ENST00000233099 | 37215788 | 37216002 | Frame-shift |
| ENST00000233099 | 37217790 | 37217942 | Frame-shift |
| ENST00000233099 | 37247797 | 37247979 | Frame-shift |
| ENST00000233099 | 37276795 | 37276986 | Frame-shift |
| ENST00000233099 | 37289081 | 37289193 | Frame-shift |
| ENST00000233099 | 37299252 | 37299424 | Frame-shift |
| ENST00000233099 | 37306262 | 37306474 | Frame-shift |
| ENST00000233099 | 37227728 | 37227956 | In-frame |
| ENST00000233099 | 37229448 | 37229715 | In-frame |
| ENST00000233099 | 37234192 | 37234447 | In-frame |
| ENST00000233099 | 37240983 | 37241163 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for HEATR5B |
| 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 |
| ENST00000233099 | 6922 | 2071 | 37240983 | 37241163 | 4201 | 4380 | 1368 | 1428 |
| ENST00000233099 | 6922 | 2071 | 37234192 | 37234447 | 4619 | 4873 | 1507 | 1592 |
| ENST00000233099 | 6922 | 2071 | 37229448 | 37229715 | 5147 | 5413 | 1683 | 1772 |
| ENST00000233099 | 6922 | 2071 | 37227728 | 37227956 | 5414 | 5641 | 1772 | 1848 |
| 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 |
| ENST00000233099 | 6922 | 2071 | 37240983 | 37241163 | 4201 | 4380 | 1368 | 1428 |
| ENST00000233099 | 6922 | 2071 | 37234192 | 37234447 | 4619 | 4873 | 1507 | 1592 |
| ENST00000233099 | 6922 | 2071 | 37229448 | 37229715 | 5147 | 5413 | 1683 | 1772 |
| ENST00000233099 | 6922 | 2071 | 37227728 | 37227956 | 5414 | 5641 | 1772 | 1848 |
| 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 |
| Q9P2D3 | 1368 | 1428 | 769 | 2071 | Alternative sequence | ID=VSP_029691;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9P2D3 | 1368 | 1428 | 1 | 2071 | Chain | ID=PRO_0000311994;Note=HEAT repeat-containing protein 5B |
| Q9P2D3 | 1507 | 1592 | 769 | 2071 | Alternative sequence | ID=VSP_029691;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9P2D3 | 1507 | 1592 | 1 | 2071 | Chain | ID=PRO_0000311994;Note=HEAT repeat-containing protein 5B |
| Q9P2D3 | 1507 | 1592 | 1563 | 1563 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9P2D3 | 1507 | 1592 | 1564 | 1564 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9P2D3 | 1683 | 1772 | 769 | 2071 | Alternative sequence | ID=VSP_029691;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9P2D3 | 1683 | 1772 | 1684 | 1773 | Alternative sequence | ID=VSP_029692;Note=In isoform 3. NEDDMEKEACTVLGEGGDSGGLIPGKSLVFATMELLMFILVRHMPHLSTKVSDSPSHIATKTRLSEESARLVAATVTILSDLPSLCSPAG->R;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9P2D3 | 1683 | 1772 | 1 | 2071 | Chain | ID=PRO_0000311994;Note=HEAT repeat-containing protein 5B |
| Q9P2D3 | 1683 | 1772 | 1737 | 1737 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
| Q9P2D3 | 1772 | 1848 | 769 | 2071 | Alternative sequence | ID=VSP_029691;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9P2D3 | 1772 | 1848 | 1684 | 1773 | Alternative sequence | ID=VSP_029692;Note=In isoform 3. NEDDMEKEACTVLGEGGDSGGLIPGKSLVFATMELLMFILVRHMPHLSTKVSDSPSHIATKTRLSEESARLVAATVTILSDLPSLCSPAG->R;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9P2D3 | 1772 | 1848 | 1 | 2071 | Chain | ID=PRO_0000311994;Note=HEAT repeat-containing protein 5B |
| 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 |
| Q9P2D3 | 1368 | 1428 | 769 | 2071 | Alternative sequence | ID=VSP_029691;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9P2D3 | 1368 | 1428 | 1 | 2071 | Chain | ID=PRO_0000311994;Note=HEAT repeat-containing protein 5B |
| Q9P2D3 | 1507 | 1592 | 769 | 2071 | Alternative sequence | ID=VSP_029691;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9P2D3 | 1507 | 1592 | 1 | 2071 | Chain | ID=PRO_0000311994;Note=HEAT repeat-containing protein 5B |
| Q9P2D3 | 1507 | 1592 | 1563 | 1563 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9P2D3 | 1507 | 1592 | 1564 | 1564 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9P2D3 | 1683 | 1772 | 769 | 2071 | Alternative sequence | ID=VSP_029691;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9P2D3 | 1683 | 1772 | 1684 | 1773 | Alternative sequence | ID=VSP_029692;Note=In isoform 3. NEDDMEKEACTVLGEGGDSGGLIPGKSLVFATMELLMFILVRHMPHLSTKVSDSPSHIATKTRLSEESARLVAATVTILSDLPSLCSPAG->R;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9P2D3 | 1683 | 1772 | 1 | 2071 | Chain | ID=PRO_0000311994;Note=HEAT repeat-containing protein 5B |
| Q9P2D3 | 1683 | 1772 | 1737 | 1737 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
| Q9P2D3 | 1772 | 1848 | 769 | 2071 | Alternative sequence | ID=VSP_029691;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9P2D3 | 1772 | 1848 | 1684 | 1773 | Alternative sequence | ID=VSP_029692;Note=In isoform 3. NEDDMEKEACTVLGEGGDSGGLIPGKSLVFATMELLMFILVRHMPHLSTKVSDSPSHIATKTRLSEESARLVAATVTILSDLPSLCSPAG->R;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9P2D3 | 1772 | 1848 | 1 | 2071 | Chain | ID=PRO_0000311994;Note=HEAT repeat-containing protein 5B |
Top |
SNVs in the skipped exons for HEATR5B |
| - 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-G3-A3CJ-01 | exon_skip_338277 | 37215789 | 37216002 | 37215872 | 37215872 | Frame_Shift_Del | G | - | p.P1943fs |
| BLCA | TCGA-ZF-AA58-01 | exon_skip_338284 | 37227729 | 37227956 | 37227804 | 37227805 | Frame_Shift_Del | CA | - | p.E1824fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_338286 | 37229449 | 37229715 | 37229696 | 37229696 | Frame_Shift_Del | T | - | p.K1690fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_338287 | 37234193 | 37234447 | 37234290 | 37234290 | Frame_Shift_Del | T | - | p.K1560fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_338287 | 37234193 | 37234447 | 37234290 | 37234290 | Frame_Shift_Del | T | - | p.R1561fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_338287 | 37234193 | 37234447 | 37234354 | 37234354 | Frame_Shift_Del | A | - | p.L1539fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_338287 | 37234193 | 37234447 | 37234429 | 37234429 | Frame_Shift_Del | G | - | p.P1514fs |
| LGG | TCGA-S9-A6WL-01 | exon_skip_338288 | 37240984 | 37241163 | 37241030 | 37241033 | Frame_Shift_Del | CTCT | - | p.ES1412fs |
| LUAD | TCGA-91-6848-01 | exon_skip_338289 | 37247798 | 37247979 | 37247938 | 37247938 | Frame_Shift_Del | C | - | p.A1299fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_338291 | 37276796 | 37276986 | 37276898 | 37276898 | Frame_Shift_Del | T | - | p.N865fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_338295 | 37299253 | 37299424 | 37299369 | 37299369 | Frame_Shift_Del | T | - | p.N218fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_338297 | 37306263 | 37306474 | 37306265 | 37306265 | Frame_Shift_Del | T | - | p.K112fs |
| LUAD | TCGA-50-5051-01 | exon_skip_338291 | 37276796 | 37276986 | 37276863 | 37276864 | Frame_Shift_Ins | - | A | p.K877fs |
| LUAD | TCGA-50-5051-01 | exon_skip_338291 | 37276796 | 37276986 | 37276863 | 37276864 | Frame_Shift_Ins | - | A | p.L876fs |
| LUAD | TCGA-50-6593-01 | exon_skip_338284 | 37227729 | 37227956 | 37227729 | 37227729 | Nonsense_Mutation | C | A | p.E1849* |
| UCEC | TCGA-AP-A059-01 | exon_skip_338288 | 37240984 | 37241163 | 37241150 | 37241150 | Nonsense_Mutation | C | T | p.W1373* |
| LUAD | TCGA-38-4632-01 | exon_skip_338293 | 37289082 | 37289193 | 37289111 | 37289111 | Nonsense_Mutation | C | T | p.W556* |
| LGG | TCGA-HT-A61C-01 | exon_skip_338293 | 37289082 | 37289193 | 37289163 | 37289163 | Nonsense_Mutation | G | A | p.R539* |
| LGG | TCGA-HT-A61C-01 | exon_skip_338293 | 37289082 | 37289193 | 37289163 | 37289163 | Nonsense_Mutation | G | A | p.R539X |
| LGG | TCGA-P5-A77W-01 | exon_skip_338297 | 37306263 | 37306474 | 37306396 | 37306396 | Nonsense_Mutation | G | A | p.R69* |
| LUSC | TCGA-33-4566-01 | exon_skip_338277 | 37215789 | 37216002 | 37215788 | 37215788 | Splice_Site | C | A | p.R1971_splice |
| - 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 |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37215789 | 37216002 | 37215859 | 37215860 | Frame_Shift_Del | TA | - | p.I1947fs |
| NCIH1703_LUNG | 37229449 | 37229715 | 37229670 | 37229670 | Frame_Shift_Del | C | - | p.G1700fs |
| CW2_LARGE_INTESTINE | 37299253 | 37299424 | 37299368 | 37299369 | Frame_Shift_Ins | - | T | p.N218fs |
| EW22_BONE | 37215789 | 37216002 | 37215848 | 37215848 | Missense_Mutation | G | A | p.A1951V |
| DV90_LUNG | 37215789 | 37216002 | 37215863 | 37215863 | Missense_Mutation | T | C | p.N1946S |
| UWB1289_OVARY | 37215789 | 37216002 | 37215926 | 37215926 | Missense_Mutation | T | C | p.H1925R |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37217791 | 37217942 | 37217939 | 37217939 | Missense_Mutation | T | C | p.D1850G |
| H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37227729 | 37227956 | 37227840 | 37227840 | Missense_Mutation | T | C | p.I1812V |
| HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37227729 | 37227956 | 37227840 | 37227840 | Missense_Mutation | T | C | p.I1812V |
| CME1_SOFT_TISSUE | 37227729 | 37227956 | 37227857 | 37227857 | Missense_Mutation | C | T | p.S1806N |
| HCC38_BREAST | 37227729 | 37227956 | 37227893 | 37227893 | Missense_Mutation | A | T | p.I1794K |
| HCC38_MATCHED_NORMAL_TISSUE | 37227729 | 37227956 | 37227893 | 37227893 | Missense_Mutation | A | T | p.I1794K |
| NCIH513_PLEURA | 37229449 | 37229715 | 37229455 | 37229455 | Missense_Mutation | G | A | p.P1771S |
| NCC021_KIDNEY | 37229449 | 37229715 | 37229478 | 37229478 | Missense_Mutation | G | C | p.S1763C |
| NH12_AUTONOMIC_GANGLIA | 37229449 | 37229715 | 37229685 | 37229685 | Missense_Mutation | G | T | p.T1694N |
| KYSE30_OESOPHAGUS | 37234193 | 37234447 | 37234258 | 37234258 | Missense_Mutation | G | A | p.S1571L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37240984 | 37241163 | 37241024 | 37241024 | Missense_Mutation | G | A | p.T1415M |
| GOTO_AUTONOMIC_GANGLIA | 37240984 | 37241163 | 37241106 | 37241106 | Missense_Mutation | C | T | p.V1388I |
| KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37240984 | 37241163 | 37241109 | 37241109 | Missense_Mutation | G | C | p.R1387G |
| HEC6_ENDOMETRIUM | 37240984 | 37241163 | 37241112 | 37241112 | Missense_Mutation | G | A | p.R1386C |
| CW2_LARGE_INTESTINE | 37247798 | 37247979 | 37247802 | 37247802 | Missense_Mutation | G | A | p.A1344V |
| HEC151_ENDOMETRIUM | 37247798 | 37247979 | 37247844 | 37247844 | Missense_Mutation | T | C | p.E1330G |
| NCIH1105_LUNG | 37276796 | 37276986 | 37276862 | 37276862 | Missense_Mutation | C | T | p.G877E |
| MCC13_SKIN | 37276796 | 37276986 | 37276944 | 37276944 | Missense_Mutation | G | A | p.R850C |
| HCT15_LARGE_INTESTINE | 37289082 | 37289193 | 37289127 | 37289127 | Missense_Mutation | G | A | p.R551C |
| HEC251_ENDOMETRIUM | 37299253 | 37299424 | 37299301 | 37299301 | Missense_Mutation | G | T | p.L241I |
| CALU6_LUNG | 37299253 | 37299424 | 37299382 | 37299382 | Missense_Mutation | C | T | p.A214T |
| HT115_LARGE_INTESTINE | 37306263 | 37306474 | 37306395 | 37306395 | Missense_Mutation | C | T | p.R69Q |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37215789 | 37216002 | 37215971 | 37215971 | Nonsense_Mutation | G | T | p.S1910* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HEATR5B |
| 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 |
| exon_skip_338288 | 2 | 37235753:37235991:37240983:37241163:37246951:37247020 | 37240983:37241163 | ENST00000233099.5,ENST00000354531.2 | THCA | rs17020125 | chr2:37241050 | G/A | 6.91e-04 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HEATR5B |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HEATR5B |
Top |
RelatedDrugs for HEATR5B |
| 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 HEATR5B |
| 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)
|