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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 HAX1 |
 Gene summary |
| Gene information | Gene symbol | HAX1 | Gene ID | 10456 |
| Gene name | HCLS1 associated protein X-1 | |
| Synonyms | HCLSBP1|HS1BP1|SCN3 | |
| Cytomap | 1q21.3 | |
| Type of gene | protein-coding | |
| Description | HCLS1-associated protein X-1HAX-1HCLS1 (and PKD2) associated proteinHS1 binding proteinHS1-associating protein X-1HS1-binding protein 1HSP1BP-1 | |
| Modification date | 20180527 | |
| UniProtAcc | O00165 | |
| Context | PubMed: HAX1 [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 HAX1 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 HAX1 |
| 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 HAX1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_10875 | 1 | 154245143:154245252:154245811:154246010:154246249:154246279 | 154245811:154246010 | ENSG00000143575.10 | ENST00000447768.2,ENST00000435087.1 |
| exon_skip_10881 | 1 | 154245143:154245252:154245811:154246437:154247425:154247477 | 154245811:154246437 | ENSG00000143575.10 | ENST00000531435.1,ENST00000477780.2 |
| exon_skip_10886 | 1 | 154245143:154245252:154245955:154246074:154246249:154246279 | 154245955:154246074 | ENSG00000143575.10 | ENST00000457918.2 |
| exon_skip_10891 | 1 | 154245143:154245252:154246249:154246437:154247425:154247477 | 154246249:154246437 | ENSG00000143575.10 | ENST00000532105.1 |
| exon_skip_10916 | 1 | 154245817:154246010:154246249:154246437:154247425:154247477 | 154246249:154246437 | ENSG00000143575.10 | ENST00000447768.2,ENST00000435087.1 |
| exon_skip_10918 | 1 | 154245955:154246074:154246225:154246437:154247425:154247477 | 154246225:154246437 | ENSG00000143575.10 | ENST00000483970.2 |
| exon_skip_10921 | 1 | 154245955:154246074:154246249:154246437:154247425:154247477 | 154246249:154246437 | ENSG00000143575.10 | ENST00000328703.7,ENST00000471326.1,ENST00000457918.2 |
| exon_skip_10929 | 1 | 154247425:154247477:154247553:154247736:154247868:154247959 | 154247553:154247736 | ENSG00000143575.10 | ENST00000435087.1 |
| exon_skip_10930 | 1 | 154247425:154247477:154247629:154247736:154247868:154247959 | 154247629:154247736 | ENSG00000143575.10 | ENST00000531435.1,ENST00000328703.7,ENST00000447768.2,ENST00000483970.2,ENST00000471326.1,ENST00000457918.2,ENST00000532105.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HAX1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_10875 | 1 | 154245143:154245252:154245811:154246010:154246249:154246279 | 154245811:154246010 | ENSG00000143575.10 | ENST00000447768.2,ENST00000435087.1 |
| exon_skip_10881 | 1 | 154245143:154245252:154245811:154246437:154247425:154247477 | 154245811:154246437 | ENSG00000143575.10 | ENST00000531435.1,ENST00000477780.2 |
| exon_skip_10886 | 1 | 154245143:154245252:154245955:154246074:154246249:154246279 | 154245955:154246074 | ENSG00000143575.10 | ENST00000457918.2 |
| exon_skip_10891 | 1 | 154245143:154245252:154246249:154246437:154247425:154247477 | 154246249:154246437 | ENSG00000143575.10 | ENST00000532105.1 |
| exon_skip_10916 | 1 | 154245817:154246010:154246249:154246437:154247425:154247477 | 154246249:154246437 | ENSG00000143575.10 | ENST00000447768.2,ENST00000435087.1 |
| exon_skip_10918 | 1 | 154245955:154246074:154246225:154246437:154247425:154247477 | 154246225:154246437 | ENSG00000143575.10 | ENST00000483970.2 |
| exon_skip_10921 | 1 | 154245955:154246074:154246249:154246437:154247425:154247477 | 154246249:154246437 | ENSG00000143575.10 | ENST00000328703.7,ENST00000457918.2,ENST00000471326.1 |
| exon_skip_10929 | 1 | 154247425:154247477:154247553:154247736:154247868:154247959 | 154247553:154247736 | ENSG00000143575.10 | ENST00000435087.1 |
| exon_skip_10930 | 1 | 154247425:154247477:154247629:154247736:154247868:154247959 | 154247629:154247736 | ENSG00000143575.10 | ENST00000328703.7,ENST00000457918.2,ENST00000483970.2,ENST00000447768.2,ENST00000531435.1,ENST00000532105.1,ENST00000471326.1 |
| 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 HAX1 |
| 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 |
| ENST00000328703 | 154246249 | 154246437 | Frame-shift |
| ENST00000328703 | 154247629 | 154247736 | Frame-shift |
| 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 |
| ENST00000328703 | 154246249 | 154246437 | Frame-shift |
| ENST00000328703 | 154247629 | 154247736 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for HAX1 |
| 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 |
| 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 |
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SNVs in the skipped exons for HAX1 |
| - 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. |
HAX1_ESCA_exon_skip_10881_psi_boxplot.png |
HAX1_HNSC_exon_skip_10881_psi_boxplot.png |
HAX1_KIRC_exon_skip_10881_psi_boxplot.png |
HAX1_KIRC_exon_skip_10918_psi_boxplot.png |
HAX1_LIHC_exon_skip_10881_psi_boxplot.png |
HAX1_LUAD_exon_skip_10881_psi_boxplot.png |
HAX1_STAD_exon_skip_10881_psi_boxplot.png |
| - 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_10875 | 154245812 | 154246010 | 154245926 | 154245926 | Frame_Shift_Del | C | - | p.H56fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_10881 | 154245812 | 154246437 | 154245926 | 154245926 | Frame_Shift_Del | C | - | p.H56fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_10881 | 154245812 | 154246437 | 154246357 | 154246357 | Frame_Shift_Del | G | - | p.G143fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246357 | 154246357 | Frame_Shift_Del | G | - | p.G143fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246357 | 154246357 | Frame_Shift_Del | G | - | p.G143fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_10881 | 154245812 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| LUAD | TCGA-55-8506-01 | exon_skip_10881 | 154245812 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| LUAD | TCGA-55-8506-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| LUAD | TCGA-55-8506-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_10881 | 154245812 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| STAD | TCGA-HF-7132-01 | exon_skip_10881 | 154245812 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| STAD | TCGA-HF-7132-01 | exon_skip_10881 | 154245812 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S161fs |
| STAD | TCGA-HF-7132-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| STAD | TCGA-HF-7132-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S161fs |
| STAD | TCGA-HF-7132-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| STAD | TCGA-HF-7132-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S161fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_10881 | 154245812 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246391 | 154246391 | Frame_Shift_Del | C | - | p.S153fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_10881 | 154245812 | 154246437 | 154246412 | 154246412 | Frame_Shift_Del | G | - | p.W160fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246412 | 154246412 | Frame_Shift_Del | G | - | p.W160fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246412 | 154246412 | Frame_Shift_Del | G | - | p.W160fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.V151fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.V151fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.V151fs |
| KIRC | TCGA-A3-3308-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-A3-3308-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-A3-3308-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-A3-3320-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-A3-3320-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-A3-3320-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-A3-3372-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-A3-3372-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-A3-3372-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-A3-3382-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-A3-3382-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-A3-3382-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-AK-3447-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-AK-3447-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-AK-3447-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-AS-3778-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-AS-3778-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| KIRC | TCGA-AS-3778-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| LUAD | TCGA-44-2656-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.F141fs |
| LUAD | TCGA-44-2656-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.F141fs |
| LUAD | TCGA-44-2656-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.F141fs |
| LUAD | TCGA-67-3771-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| LUAD | TCGA-67-3771-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| LUAD | TCGA-67-3771-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| LUAD | TCGA-67-3772-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.F141fs |
| LUAD | TCGA-67-3772-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.F141fs |
| LUAD | TCGA-67-3772-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.F141fs |
| LUAD | TCGA-67-3774-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| LUAD | TCGA-67-3774-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| LUAD | TCGA-67-3774-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.LG141fs |
| UCEC | TCGA-BS-A0UL-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.F149fs |
| UCEC | TCGA-BS-A0UL-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.F149fs |
| UCEC | TCGA-BS-A0UL-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.F149fs |
| UCEC | TCGA-D1-A177-01 | exon_skip_10881 | 154245812 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.F149fs |
| UCEC | TCGA-D1-A177-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.F149fs |
| UCEC | TCGA-D1-A177-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246356 | 154246357 | Frame_Shift_Ins | - | G | p.F149fs |
| HNSC | TCGA-CV-6961-01 | exon_skip_10881 | 154245812 | 154246437 | 154246316 | 154246316 | Nonsense_Mutation | C | G | p.S128* |
| HNSC | TCGA-CV-6961-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246226 | 154246437 | 154246316 | 154246316 | Nonsense_Mutation | C | G | p.S128* |
| HNSC | TCGA-CV-6961-01 | exon_skip_10891 exon_skip_10916 exon_skip_10918 exon_skip_10921 | 154246250 | 154246437 | 154246316 | 154246316 | Nonsense_Mutation | C | G | p.S128* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CV-6961-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246316 | |
| Mutation end: 154246316 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: p.S128* | |
| Sample: TCGA-CV-6961-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246316 | |
| Mutation end: 154246316 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: p.S128* | |
| Sample: TCGA-CV-6961-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246316 | |
| Mutation end: 154246316 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: p.S128* | |
exon_skip_10881_HNSC_TCGA-CV-6961-01.png | |
exon_skip_303822_HNSC_TCGA-CV-6961-01.png | |
exon_skip_307295_HNSC_TCGA-CV-6961-01.png | |
exon_skip_307296_HNSC_TCGA-CV-6961-01.png | |
exon_skip_315628_HNSC_TCGA-CV-6961-01.png | |
exon_skip_488752_HNSC_TCGA-CV-6961-01.png | |
exon_skip_93891_HNSC_TCGA-CV-6961-01.png | |
 | Sample: TCGA-A3-3308-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3308-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3308-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
exon_skip_10918_KIRC_TCGA-A3-3308-01.png | |
exon_skip_26359_KIRC_TCGA-A3-3308-01.png | |
exon_skip_348822_KIRC_TCGA-A3-3308-01.png | |
exon_skip_43714_KIRC_TCGA-A3-3308-01.png | |
exon_skip_93534_KIRC_TCGA-A3-3308-01.png | |
 | Sample: TCGA-A3-3320-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3320-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3320-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
exon_skip_10881_KIRC_TCGA-A3-3320-01.png | |
exon_skip_10918_KIRC_TCGA-A3-3320-01.png | |
exon_skip_503611_KIRC_TCGA-A3-3320-01.png | |
exon_skip_73552_KIRC_TCGA-A3-3320-01.png | |
 | Sample: TCGA-A3-3372-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3372-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3372-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
exon_skip_10881_KIRC_TCGA-A3-3372-01.png | |
exon_skip_335781_KIRC_TCGA-A3-3372-01.png | |
exon_skip_347690_KIRC_TCGA-A3-3372-01.png | |
exon_skip_490731_KIRC_TCGA-A3-3372-01.png | |
exon_skip_71341_KIRC_TCGA-A3-3372-01.png | |
exon_skip_93534_KIRC_TCGA-A3-3372-01.png | |
 | Sample: TCGA-A3-3382-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3382-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3382-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
exon_skip_10881_KIRC_TCGA-A3-3382-01.png | |
exon_skip_10918_KIRC_TCGA-A3-3382-01.png | |
exon_skip_314822_KIRC_TCGA-A3-3382-01.png | |
exon_skip_348822_KIRC_TCGA-A3-3382-01.png | |
exon_skip_420494_KIRC_TCGA-A3-3382-01.png | |
exon_skip_425876_KIRC_TCGA-A3-3382-01.png | |
 | Sample: TCGA-AK-3447-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-AK-3447-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-AK-3447-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
exon_skip_10881_KIRC_TCGA-AK-3447-01.png | |
exon_skip_10918_KIRC_TCGA-AK-3447-01.png | |
exon_skip_93891_KIRC_TCGA-AK-3447-01.png | |
 | Sample: TCGA-AS-3778-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-AS-3778-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-AS-3778-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
exon_skip_10881_KIRC_TCGA-AS-3778-01.png | |
exon_skip_10918_KIRC_TCGA-AS-3778-01.png | |
exon_skip_23598_KIRC_TCGA-AS-3778-01.png | |
exon_skip_313970_KIRC_TCGA-AS-3778-01.png | |
exon_skip_347690_KIRC_TCGA-AS-3778-01.png | |
exon_skip_374468_KIRC_TCGA-AS-3778-01.png | |
exon_skip_374469_KIRC_TCGA-AS-3778-01.png | |
exon_skip_456903_KIRC_TCGA-AS-3778-01.png | |
exon_skip_503611_KIRC_TCGA-AS-3778-01.png | |
exon_skip_93891_KIRC_TCGA-AS-3778-01.png | |
exon_skip_93913_KIRC_TCGA-AS-3778-01.png | |
 | Sample: TCGA-67-3771-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-67-3771-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-67-3771-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
exon_skip_108215_LUAD_TCGA-67-3771-01.png | |
exon_skip_10918_LUAD_TCGA-67-3771-01.png | |
exon_skip_137953_LUAD_TCGA-67-3771-01.png | |
exon_skip_374468_LUAD_TCGA-67-3771-01.png | |
exon_skip_517061_LUAD_TCGA-67-3771-01.png | |
exon_skip_517074_LUAD_TCGA-67-3771-01.png | |
exon_skip_7335_LUAD_TCGA-67-3771-01.png | |
exon_skip_73656_LUAD_TCGA-67-3771-01.png | |
 | Sample: TCGA-67-3774-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-67-3774-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-67-3774-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
exon_skip_10881_LUAD_TCGA-67-3774-01.png | |
exon_skip_347690_LUAD_TCGA-67-3774-01.png | |
 | Sample: TCGA-44-2656-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.F141fs | |
| Sample: TCGA-44-2656-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.F141fs | |
| Sample: TCGA-44-2656-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.F141fs | |
exon_skip_106588_LUAD_TCGA-44-2656-01.png | |
exon_skip_10918_LUAD_TCGA-44-2656-01.png | |
exon_skip_134787_LUAD_TCGA-44-2656-01.png | |
exon_skip_291076_LUAD_TCGA-44-2656-01.png | |
exon_skip_347690_LUAD_TCGA-44-2656-01.png | |
exon_skip_353194_LUAD_TCGA-44-2656-01.png | |
exon_skip_374468_LUAD_TCGA-44-2656-01.png | |
exon_skip_374469_LUAD_TCGA-44-2656-01.png | |
exon_skip_3814_LUAD_TCGA-44-2656-01.png | |
exon_skip_3815_LUAD_TCGA-44-2656-01.png | |
exon_skip_390105_LUAD_TCGA-44-2656-01.png | |
exon_skip_451924_LUAD_TCGA-44-2656-01.png | |
exon_skip_451926_LUAD_TCGA-44-2656-01.png | |
exon_skip_46116_LUAD_TCGA-44-2656-01.png | |
exon_skip_48232_LUAD_TCGA-44-2656-01.png | |
exon_skip_503611_LUAD_TCGA-44-2656-01.png | |
exon_skip_506466_LUAD_TCGA-44-2656-01.png | |
 | Sample: TCGA-67-3772-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.F141fs | |
| Sample: TCGA-67-3772-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.F141fs | |
| Sample: TCGA-67-3772-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.F141fs | |
exon_skip_10881_LUAD_TCGA-67-3772-01.png | |
exon_skip_10918_LUAD_TCGA-67-3772-01.png | |
 | Sample: TCGA-HF-7132-01 |
| Cancer type: STAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246391 | |
| Mutation end: 154246391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S153fs | |
| Sample: TCGA-HF-7132-01 |
| Cancer type: STAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246391 | |
| Mutation end: 154246391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S153fs | |
| Sample: TCGA-HF-7132-01 |
| Cancer type: STAD | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246391 | |
| Mutation end: 154246391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S153fs | |
| Sample: TCGA-HF-7132-01 |
| Cancer type: STAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246391 | |
| Mutation end: 154246391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S161fs | |
| Sample: TCGA-HF-7132-01 |
| Cancer type: STAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246391 | |
| Mutation end: 154246391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S161fs | |
| Sample: TCGA-HF-7132-01 |
| Cancer type: STAD | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246391 | |
| Mutation end: 154246391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S161fs | |
exon_skip_106588_STAD_TCGA-HF-7132-01.png | |
exon_skip_109033_STAD_TCGA-HF-7132-01.png | |
exon_skip_10918_STAD_TCGA-HF-7132-01.png | |
exon_skip_126182_STAD_TCGA-HF-7132-01.png | |
exon_skip_298309_STAD_TCGA-HF-7132-01.png | |
exon_skip_307491_STAD_TCGA-HF-7132-01.png | |
exon_skip_463061_STAD_TCGA-HF-7132-01.png | |
exon_skip_469364_STAD_TCGA-HF-7132-01.png | |
exon_skip_498070_STAD_TCGA-HF-7132-01.png | |
exon_skip_498077_STAD_TCGA-HF-7132-01.png | |
exon_skip_503611_STAD_TCGA-HF-7132-01.png | |
exon_skip_7033_STAD_TCGA-HF-7132-01.png | |
exon_skip_77155_STAD_TCGA-HF-7132-01.png | |
 | Sample: TCGA-CV-6961-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246316 | |
| Mutation end: 154246316 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: p.S128* | |
| Sample: TCGA-CV-6961-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246316 | |
| Mutation end: 154246316 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: p.S128* | |
| Sample: TCGA-CV-6961-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246316 | |
| Mutation end: 154246316 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: p.S128* | |
| exon_skip_10881_HNSC_TCGA-CV-6961-01.png | |
| exon_skip_303822_HNSC_TCGA-CV-6961-01.png | |
| exon_skip_307295_HNSC_TCGA-CV-6961-01.png | |
| exon_skip_307296_HNSC_TCGA-CV-6961-01.png | |
| exon_skip_315628_HNSC_TCGA-CV-6961-01.png | |
| exon_skip_488752_HNSC_TCGA-CV-6961-01.png | |
| exon_skip_93891_HNSC_TCGA-CV-6961-01.png | |
 | Sample: TCGA-A3-3308-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3308-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3308-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| exon_skip_10918_KIRC_TCGA-A3-3308-01.png | |
| exon_skip_26359_KIRC_TCGA-A3-3308-01.png | |
| exon_skip_348822_KIRC_TCGA-A3-3308-01.png | |
| exon_skip_43714_KIRC_TCGA-A3-3308-01.png | |
| exon_skip_93534_KIRC_TCGA-A3-3308-01.png | |
 | Sample: TCGA-A3-3320-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3320-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3320-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| exon_skip_10881_KIRC_TCGA-A3-3320-01.png | |
| exon_skip_10918_KIRC_TCGA-A3-3320-01.png | |
| exon_skip_503611_KIRC_TCGA-A3-3320-01.png | |
| exon_skip_73552_KIRC_TCGA-A3-3320-01.png | |
 | Sample: TCGA-A3-3372-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3372-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3372-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| exon_skip_10881_KIRC_TCGA-A3-3372-01.png | |
| exon_skip_335781_KIRC_TCGA-A3-3372-01.png | |
| exon_skip_347690_KIRC_TCGA-A3-3372-01.png | |
| exon_skip_490731_KIRC_TCGA-A3-3372-01.png | |
| exon_skip_71341_KIRC_TCGA-A3-3372-01.png | |
| exon_skip_93534_KIRC_TCGA-A3-3372-01.png | |
 | Sample: TCGA-A3-3382-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3382-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-A3-3382-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| exon_skip_10881_KIRC_TCGA-A3-3382-01.png | |
| exon_skip_10918_KIRC_TCGA-A3-3382-01.png | |
| exon_skip_314822_KIRC_TCGA-A3-3382-01.png | |
| exon_skip_348822_KIRC_TCGA-A3-3382-01.png | |
| exon_skip_420494_KIRC_TCGA-A3-3382-01.png | |
| exon_skip_425876_KIRC_TCGA-A3-3382-01.png | |
 | Sample: TCGA-AK-3447-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-AK-3447-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-AK-3447-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| exon_skip_10881_KIRC_TCGA-AK-3447-01.png | |
| exon_skip_10918_KIRC_TCGA-AK-3447-01.png | |
| exon_skip_93891_KIRC_TCGA-AK-3447-01.png | |
 | Sample: TCGA-AS-3778-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-AS-3778-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-AS-3778-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| exon_skip_10881_KIRC_TCGA-AS-3778-01.png | |
| exon_skip_10918_KIRC_TCGA-AS-3778-01.png | |
| exon_skip_23598_KIRC_TCGA-AS-3778-01.png | |
| exon_skip_313970_KIRC_TCGA-AS-3778-01.png | |
| exon_skip_347690_KIRC_TCGA-AS-3778-01.png | |
| exon_skip_374468_KIRC_TCGA-AS-3778-01.png | |
| exon_skip_374469_KIRC_TCGA-AS-3778-01.png | |
| exon_skip_456903_KIRC_TCGA-AS-3778-01.png | |
| exon_skip_503611_KIRC_TCGA-AS-3778-01.png | |
| exon_skip_93891_KIRC_TCGA-AS-3778-01.png | |
| exon_skip_93913_KIRC_TCGA-AS-3778-01.png | |
 | Sample: TCGA-67-3771-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-67-3771-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-67-3771-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| exon_skip_108215_LUAD_TCGA-67-3771-01.png | |
| exon_skip_10918_LUAD_TCGA-67-3771-01.png | |
| exon_skip_137953_LUAD_TCGA-67-3771-01.png | |
| exon_skip_374468_LUAD_TCGA-67-3771-01.png | |
| exon_skip_517061_LUAD_TCGA-67-3771-01.png | |
| exon_skip_517074_LUAD_TCGA-67-3771-01.png | |
| exon_skip_7335_LUAD_TCGA-67-3771-01.png | |
| exon_skip_73656_LUAD_TCGA-67-3771-01.png | |
 | Sample: TCGA-67-3774-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-67-3774-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| Sample: TCGA-67-3774-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.LG141fs | |
| exon_skip_10881_LUAD_TCGA-67-3774-01.png | |
| exon_skip_347690_LUAD_TCGA-67-3774-01.png | |
 | Sample: TCGA-44-2656-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.F141fs | |
| Sample: TCGA-44-2656-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.F141fs | |
| Sample: TCGA-44-2656-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.F141fs | |
| exon_skip_106588_LUAD_TCGA-44-2656-01.png | |
| exon_skip_10918_LUAD_TCGA-44-2656-01.png | |
| exon_skip_134787_LUAD_TCGA-44-2656-01.png | |
| exon_skip_291076_LUAD_TCGA-44-2656-01.png | |
| exon_skip_347690_LUAD_TCGA-44-2656-01.png | |
| exon_skip_353194_LUAD_TCGA-44-2656-01.png | |
| exon_skip_374468_LUAD_TCGA-44-2656-01.png | |
| exon_skip_374469_LUAD_TCGA-44-2656-01.png | |
| exon_skip_3814_LUAD_TCGA-44-2656-01.png | |
| exon_skip_3815_LUAD_TCGA-44-2656-01.png | |
| exon_skip_390105_LUAD_TCGA-44-2656-01.png | |
| exon_skip_451924_LUAD_TCGA-44-2656-01.png | |
| exon_skip_451926_LUAD_TCGA-44-2656-01.png | |
| exon_skip_46116_LUAD_TCGA-44-2656-01.png | |
| exon_skip_48232_LUAD_TCGA-44-2656-01.png | |
| exon_skip_503611_LUAD_TCGA-44-2656-01.png | |
| exon_skip_506466_LUAD_TCGA-44-2656-01.png | |
 | Sample: TCGA-67-3772-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.F141fs | |
| Sample: TCGA-67-3772-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.F141fs | |
| Sample: TCGA-67-3772-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246356 | |
| Mutation end: 154246357 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.F141fs | |
| exon_skip_10881_LUAD_TCGA-67-3772-01.png | |
| exon_skip_10918_LUAD_TCGA-67-3772-01.png | |
 | Sample: TCGA-HF-7132-01 |
| Cancer type: STAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246391 | |
| Mutation end: 154246391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S153fs | |
| Sample: TCGA-HF-7132-01 |
| Cancer type: STAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246391 | |
| Mutation end: 154246391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S153fs | |
| Sample: TCGA-HF-7132-01 |
| Cancer type: STAD | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246391 | |
| Mutation end: 154246391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S153fs | |
| Sample: TCGA-HF-7132-01 |
| Cancer type: STAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246250 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246391 | |
| Mutation end: 154246391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S161fs | |
| Sample: TCGA-HF-7132-01 |
| Cancer type: STAD | |
| ESID: exon_skip_10921 | |
| Skipped exon start: 154246226 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246391 | |
| Mutation end: 154246391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S161fs | |
| Sample: TCGA-HF-7132-01 |
| Cancer type: STAD | |
| ESID: exon_skip_10881 | |
| Skipped exon start: 154245812 | |
| Skipped exon end: 154246437 | |
| Mutation start: 154246391 | |
| Mutation end: 154246391 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S161fs | |
| exon_skip_106588_STAD_TCGA-HF-7132-01.png | |
| exon_skip_109033_STAD_TCGA-HF-7132-01.png | |
| exon_skip_10918_STAD_TCGA-HF-7132-01.png | |
| exon_skip_126182_STAD_TCGA-HF-7132-01.png | |
| exon_skip_298309_STAD_TCGA-HF-7132-01.png | |
| exon_skip_307491_STAD_TCGA-HF-7132-01.png | |
| exon_skip_463061_STAD_TCGA-HF-7132-01.png | |
| exon_skip_469364_STAD_TCGA-HF-7132-01.png | |
| exon_skip_498070_STAD_TCGA-HF-7132-01.png | |
| exon_skip_498077_STAD_TCGA-HF-7132-01.png | |
| exon_skip_503611_STAD_TCGA-HF-7132-01.png | |
| exon_skip_7033_STAD_TCGA-HF-7132-01.png | |
| exon_skip_77155_STAD_TCGA-HF-7132-01.png | |
| - 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 |
| HEC6_ENDOMETRIUM | 154245812 | 154246010 | 154245825 | 154245825 | Frame_Shift_Del | T | - | p.F24fs |
| HEC6_ENDOMETRIUM | 154245812 | 154246437 | 154245825 | 154245825 | Frame_Shift_Del | T | - | p.F24fs |
| HCT116_LARGE_INTESTINE | 154245812 | 154246010 | 154245825 | 154245825 | Frame_Shift_Del | T | - | p.F24fs |
| HCT116_LARGE_INTESTINE | 154245812 | 154246437 | 154245825 | 154245825 | Frame_Shift_Del | T | - | p.F24fs |
| RKO_LARGE_INTESTINE | 154246250 | 154246437 | 154246357 | 154246357 | Frame_Shift_Del | G | - | p.G143fs |
| RKO_LARGE_INTESTINE | 154246226 | 154246437 | 154246357 | 154246357 | Frame_Shift_Del | G | - | p.G143fs |
| RKO_LARGE_INTESTINE | 154245812 | 154246437 | 154246357 | 154246357 | Frame_Shift_Del | G | - | p.G143fs |
| CW2_LARGE_INTESTINE | 154245812 | 154246010 | 154245925 | 154245926 | Frame_Shift_Ins | - | C | p.HP56fs |
| CW2_LARGE_INTESTINE | 154245812 | 154246437 | 154245925 | 154245926 | Frame_Shift_Ins | - | C | p.HP56fs |
| MDAPCA2B_PROSTATE | 154245812 | 154246010 | 154245819 | 154245819 | Missense_Mutation | G | T | p.D21Y |
| MDAPCA2B_PROSTATE | 154245812 | 154246437 | 154245819 | 154245819 | Missense_Mutation | G | T | p.D21Y |
| TUHR10TKB_KIDNEY | 154245812 | 154246010 | 154245820 | 154245820 | Missense_Mutation | A | T | p.D21V |
| TUHR10TKB_KIDNEY | 154245812 | 154246437 | 154245820 | 154245820 | Missense_Mutation | A | T | p.D21V |
| SNUC4_LARGE_INTESTINE | 154245812 | 154246010 | 154245890 | 154245890 | Missense_Mutation | G | T | p.W44C |
| SNUC4_LARGE_INTESTINE | 154245812 | 154246437 | 154245890 | 154245890 | Missense_Mutation | G | T | p.W44C |
| SNU1197_LARGE_INTESTINE | 154245812 | 154246010 | 154245926 | 154245926 | Missense_Mutation | C | A | p.H56Q |
| SNU1197_LARGE_INTESTINE | 154245812 | 154246437 | 154245926 | 154245926 | Missense_Mutation | C | A | p.H56Q |
| NCIH513_PLEURA | 154245812 | 154246010 | 154245933 | 154245933 | Missense_Mutation | G | C | p.E59Q |
| NCIH513_PLEURA | 154245812 | 154246437 | 154245933 | 154245933 | Missense_Mutation | G | C | p.E59Q |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 154245812 | 154246010 | 154246005 | 154246005 | Missense_Mutation | G | A | p.D83N |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 154245956 | 154246074 | 154246005 | 154246005 | Missense_Mutation | G | A | p.D83N |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 154245812 | 154246437 | 154246005 | 154246005 | Missense_Mutation | G | A | p.D83N |
| LS411N_LARGE_INTESTINE | 154245956 | 154246074 | 154246059 | 154246059 | Missense_Mutation | C | T | p.P101S |
| LS411N_LARGE_INTESTINE | 154245812 | 154246437 | 154246059 | 154246059 | Missense_Mutation | C | T | p.P101S |
| CAL148_BREAST | 154245956 | 154246074 | 154246063 | 154246063 | Missense_Mutation | C | T | p.S102F |
| CAL148_BREAST | 154245812 | 154246437 | 154246063 | 154246063 | Missense_Mutation | C | T | p.S102F |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 154245956 | 154246074 | 154246068 | 154246068 | Missense_Mutation | C | T | p.P104S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 154245812 | 154246437 | 154246068 | 154246068 | Missense_Mutation | C | T | p.P104S |
| TTC709_SOFT_TISSUE | 154246250 | 154246437 | 154246340 | 154246340 | Missense_Mutation | A | G | p.H136R |
| TTC709_SOFT_TISSUE | 154246226 | 154246437 | 154246340 | 154246340 | Missense_Mutation | A | G | p.H136R |
| TTC709_SOFT_TISSUE | 154245812 | 154246437 | 154246340 | 154246340 | Missense_Mutation | A | G | p.H136R |
| PC9_LUNG | 154247630 | 154247736 | 154247666 | 154247666 | Missense_Mutation | C | A | p.P198Q |
| PC9_LUNG | 154247554 | 154247736 | 154247666 | 154247666 | Missense_Mutation | C | A | p.P198Q |
| DOTC24510_CERVIX | 154247630 | 154247736 | 154247699 | 154247699 | Missense_Mutation | A | G | p.K209R |
| DOTC24510_CERVIX | 154247554 | 154247736 | 154247699 | 154247699 | Missense_Mutation | A | G | p.K209R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HAX1 |
| 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 HAX1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HAX1 |
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RelatedDrugs for HAX1 |
| 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 HAX1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HAX1 | C1853118 | Severe congenital neutropenia | 2 | CTD_human;ORPHANET;UNIPROT |
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