|
||||||
|
 | |
| |
| |
| |
| 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 RIF1 |
 Gene summary |
| Gene information | Gene symbol | RIF1 | Gene ID | 55183 |
| Gene name | replication timing regulatory factor 1 | |
| Synonyms | - | |
| Cytomap | 2q23.3 | |
| Type of gene | protein-coding | |
| Description | telomere-associated protein RIF1RAP1 interacting factor homolograp1-interacting factor 1 homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y581 | |
| Context | PubMed: RIF1 [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 |
| RIF1 | GO:0006974 | cellular response to DNA damage stimulus | 28241136 |
| RIF1 | GO:0043247 | telomere maintenance in response to DNA damage | 15583028 |
| RIF1 | GO:2000042 | negative regulation of double-strand break repair via homologous recombination | 23333306 |
| RIF1 | GO:2001034 | positive regulation of double-strand break repair via nonhomologous end joining | 28241136 |
Top |
Exon skipping events across known transcript of Ensembl for RIF1 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 RIF1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for RIF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_330334 | 2 | 152266413:152266453:152266927:152267041:152267773:152267852 | 152266927:152267041 | ENSG00000080345.13 | ENST00000433166.2,ENST00000494333.1,ENST00000428287.2 |
| exon_skip_330335 | 2 | 152266469:152266547:152266927:152267041:152267773:152267852 | 152266927:152267041 | ENSG00000080345.13 | ENST00000453091.2 |
| exon_skip_330336 | 2 | 152267773:152267852:152271336:152271433:152273074:152273202 | 152271336:152271433 | ENSG00000080345.13 | ENST00000433166.2,ENST00000444746.2,ENST00000494333.1,ENST00000428287.2,ENST00000430328.2,ENST00000414861.2,ENST00000243326.5,ENST00000453091.2 |
| exon_skip_330338 | 2 | 152273074:152273202:152273320:152273415:152276703:152276893 | 152273320:152273415 | ENSG00000080345.13 | ENST00000433166.2,ENST00000444746.2,ENST00000494333.1,ENST00000428287.2,ENST00000430328.2,ENST00000414861.2,ENST00000243326.5,ENST00000453091.2 |
| exon_skip_330339 | 2 | 152276738:152276893:152279463:152279556:152285297:152285436 | 152279463:152279556 | ENSG00000080345.13 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000414861.2,ENST00000243326.5,ENST00000453091.2 |
| exon_skip_330340 | 2 | 152289590:152289742:152291976:152292094:152293340:152293400 | 152291976:152292094 | ENSG00000080345.13 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000414861.2,ENST00000243326.5,ENST00000453091.2 |
| exon_skip_330343 | 2 | 152291976:152292094:152293340:152293517:152293754:152293865 | 152293340:152293517 | ENSG00000080345.13 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000414861.2,ENST00000243326.5,ENST00000453091.2 |
| exon_skip_330345 | 2 | 152296540:152296641:152298418:152298505:152299772:152299804 | 152298418:152298505 | ENSG00000080345.13 | ENST00000433166.2,ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000414861.2,ENST00000243326.5,ENST00000453091.2 |
| exon_skip_330346 | 2 | 152311408:152311673:152313091:152313134:152314274:152314477 | 152313091:152313134 | ENSG00000080345.13 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000243326.5,ENST00000453091.2 |
| exon_skip_330348 | 2 | 152315324:152315424:152316513:152316633:152317651:152317803 | 152316513:152316633 | ENSG00000080345.13 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000243326.5,ENST00000453091.2 |
| exon_skip_330351 | 2 | 152318925:152318980:152319397:152322634:152324513:152324660 | 152319397:152322634 | ENSG00000080345.13 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000243326.5,ENST00000453091.2 |
| exon_skip_330355 | 2 | 152324535:152324660:152324987:152325065:152325154:152325270 | 152324987:152325065 | ENSG00000080345.13 | ENST00000444746.2,ENST00000454583.2,ENST00000243326.5 |
| exon_skip_330358 | 2 | 152326224:152326378:152330477:152330586:152331370:152331733 | 152330477:152330586 | ENSG00000080345.13 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000454583.2,ENST00000243326.5,ENST00000453091.2 |
| exon_skip_330360 | 2 | 152331370:152331733:152336611:152336741:152339712:152339849 | 152336611:152336741 | ENSG00000080345.13 | ENST00000454583.2 |
| exon_skip_330376 | 2 | 152355858:152356054:152359547:152359699:152362723:152362889 | 152359547:152359699 | ENSG00000080345.13 | ENST00000454583.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for RIF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_330334 | 2 | 152266413:152266453:152266927:152267041:152267773:152267852 | 152266927:152267041 | ENSG00000080345.13 | ENST00000428287.2,ENST00000494333.1,ENST00000433166.2 |
| exon_skip_330335 | 2 | 152266469:152266547:152266927:152267041:152267773:152267852 | 152266927:152267041 | ENSG00000080345.13 | ENST00000453091.2 |
| exon_skip_330336 | 2 | 152267773:152267852:152271336:152271433:152273074:152273202 | 152271336:152271433 | ENSG00000080345.13 | ENST00000444746.2,ENST00000453091.2,ENST00000428287.2,ENST00000494333.1,ENST00000433166.2,ENST00000243326.5,ENST00000414861.2,ENST00000430328.2 |
| exon_skip_330338 | 2 | 152273074:152273202:152273320:152273415:152276703:152276893 | 152273320:152273415 | ENSG00000080345.13 | ENST00000444746.2,ENST00000453091.2,ENST00000428287.2,ENST00000494333.1,ENST00000433166.2,ENST00000243326.5,ENST00000414861.2,ENST00000430328.2 |
| exon_skip_330339 | 2 | 152276738:152276893:152279463:152279556:152285297:152285436 | 152279463:152279556 | ENSG00000080345.13 | ENST00000444746.2,ENST00000453091.2,ENST00000428287.2,ENST00000243326.5,ENST00000414861.2,ENST00000430328.2 |
| exon_skip_330340 | 2 | 152289590:152289742:152291976:152292094:152293340:152293400 | 152291976:152292094 | ENSG00000080345.13 | ENST00000444746.2,ENST00000453091.2,ENST00000428287.2,ENST00000243326.5,ENST00000414861.2,ENST00000430328.2 |
| exon_skip_330343 | 2 | 152291976:152292094:152293340:152293517:152293754:152293865 | 152293340:152293517 | ENSG00000080345.13 | ENST00000444746.2,ENST00000453091.2,ENST00000428287.2,ENST00000243326.5,ENST00000414861.2,ENST00000430328.2 |
| exon_skip_330345 | 2 | 152296540:152296641:152298418:152298505:152299772:152299804 | 152298418:152298505 | ENSG00000080345.13 | ENST00000444746.2,ENST00000453091.2,ENST00000428287.2,ENST00000433166.2,ENST00000243326.5,ENST00000414861.2,ENST00000430328.2 |
| exon_skip_330346 | 2 | 152311408:152311673:152313091:152313134:152314274:152314477 | 152313091:152313134 | ENSG00000080345.13 | ENST00000444746.2,ENST00000453091.2,ENST00000428287.2,ENST00000243326.5,ENST00000430328.2 |
| exon_skip_330348 | 2 | 152315324:152315424:152316513:152316633:152317651:152317803 | 152316513:152316633 | ENSG00000080345.13 | ENST00000444746.2,ENST00000453091.2,ENST00000428287.2,ENST00000243326.5,ENST00000430328.2 |
| exon_skip_330351 | 2 | 152318925:152318980:152319397:152322634:152324513:152324660 | 152319397:152322634 | ENSG00000080345.13 | ENST00000444746.2,ENST00000453091.2,ENST00000428287.2,ENST00000243326.5,ENST00000430328.2 |
| exon_skip_330355 | 2 | 152324535:152324660:152324987:152325065:152325154:152325270 | 152324987:152325065 | ENSG00000080345.13 | ENST00000444746.2,ENST00000243326.5,ENST00000454583.2 |
| exon_skip_330358 | 2 | 152326224:152326378:152330477:152330586:152331370:152331733 | 152330477:152330586 | ENSG00000080345.13 | ENST00000444746.2,ENST00000453091.2,ENST00000428287.2,ENST00000243326.5,ENST00000430328.2,ENST00000454583.2 |
| exon_skip_330360 | 2 | 152331370:152331733:152336611:152336741:152339712:152339849 | 152336611:152336741 | ENSG00000080345.13 | ENST00000454583.2 |
| exon_skip_330368 | 2 | 152342790:152343270:152351742:152351840:152354299:152354727 | 152351742:152351840 | ENSG00000080345.13 | ENST00000457745.1 |
| exon_skip_330371 | 2 | 152351742:152351840:152355858:152356054:152359547:152359699 | 152355858:152356054 | ENSG00000080345.13 | ENST00000454583.2 |
| exon_skip_330376 | 2 | 152355858:152356054:152359547:152359699:152362723:152362889 | 152359547:152359699 | ENSG00000080345.13 | ENST00000454583.2 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for RIF1 |
| 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 |
| ENST00000243326 | 152271336 | 152271433 | Frame-shift |
| ENST00000444746 | 152271336 | 152271433 | Frame-shift |
| ENST00000243326 | 152273320 | 152273415 | Frame-shift |
| ENST00000444746 | 152273320 | 152273415 | Frame-shift |
| ENST00000243326 | 152291976 | 152292094 | Frame-shift |
| ENST00000444746 | 152291976 | 152292094 | Frame-shift |
| ENST00000243326 | 152313091 | 152313134 | Frame-shift |
| ENST00000444746 | 152313091 | 152313134 | Frame-shift |
| ENST00000243326 | 152330477 | 152330586 | Frame-shift |
| ENST00000444746 | 152330477 | 152330586 | Frame-shift |
| ENST00000243326 | 152279463 | 152279556 | In-frame |
| ENST00000444746 | 152279463 | 152279556 | In-frame |
| ENST00000243326 | 152293340 | 152293517 | In-frame |
| ENST00000444746 | 152293340 | 152293517 | In-frame |
| ENST00000243326 | 152298418 | 152298505 | In-frame |
| ENST00000444746 | 152298418 | 152298505 | In-frame |
| ENST00000243326 | 152316513 | 152316633 | In-frame |
| ENST00000444746 | 152316513 | 152316633 | In-frame |
| ENST00000243326 | 152319397 | 152322634 | In-frame |
| ENST00000444746 | 152319397 | 152322634 | In-frame |
| ENST00000243326 | 152324987 | 152325065 | In-frame |
| ENST00000444746 | 152324987 | 152325065 | 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 |
| ENST00000243326 | 152271336 | 152271433 | Frame-shift |
| ENST00000444746 | 152271336 | 152271433 | Frame-shift |
| ENST00000243326 | 152273320 | 152273415 | Frame-shift |
| ENST00000444746 | 152273320 | 152273415 | Frame-shift |
| ENST00000243326 | 152291976 | 152292094 | Frame-shift |
| ENST00000444746 | 152291976 | 152292094 | Frame-shift |
| ENST00000243326 | 152313091 | 152313134 | Frame-shift |
| ENST00000444746 | 152313091 | 152313134 | Frame-shift |
| ENST00000243326 | 152330477 | 152330586 | Frame-shift |
| ENST00000444746 | 152330477 | 152330586 | Frame-shift |
| ENST00000243326 | 152279463 | 152279556 | In-frame |
| ENST00000444746 | 152279463 | 152279556 | In-frame |
| ENST00000243326 | 152293340 | 152293517 | In-frame |
| ENST00000444746 | 152293340 | 152293517 | In-frame |
| ENST00000243326 | 152298418 | 152298505 | In-frame |
| ENST00000444746 | 152298418 | 152298505 | In-frame |
| ENST00000243326 | 152316513 | 152316633 | In-frame |
| ENST00000444746 | 152316513 | 152316633 | In-frame |
| ENST00000243326 | 152319397 | 152322634 | In-frame |
| ENST00000444746 | 152319397 | 152322634 | In-frame |
| ENST00000243326 | 152324987 | 152325065 | In-frame |
| ENST00000444746 | 152324987 | 152325065 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for RIF1 |
| 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 |
| ENST00000243326 | 15020 | 2472 | 152279463 | 152279556 | 1177 | 1269 | 231 | 262 |
| ENST00000444746 | 7914 | 2472 | 152279463 | 152279556 | 855 | 947 | 231 | 262 |
| ENST00000243326 | 15020 | 2472 | 152293340 | 152293517 | 1679 | 1855 | 398 | 457 |
| ENST00000444746 | 7914 | 2472 | 152293340 | 152293517 | 1357 | 1533 | 398 | 457 |
| ENST00000243326 | 15020 | 2472 | 152298418 | 152298505 | 2131 | 2217 | 549 | 578 |
| ENST00000444746 | 7914 | 2472 | 152298418 | 152298505 | 1809 | 1895 | 549 | 578 |
| ENST00000243326 | 15020 | 2472 | 152316513 | 152316633 | 3439 | 3558 | 985 | 1025 |
| ENST00000444746 | 7914 | 2472 | 152316513 | 152316633 | 3117 | 3236 | 985 | 1025 |
| ENST00000243326 | 15020 | 2472 | 152319397 | 152322634 | 3847 | 7083 | 1121 | 2200 |
| ENST00000444746 | 7914 | 2472 | 152319397 | 152322634 | 3525 | 6761 | 1121 | 2200 |
| ENST00000243326 | 15020 | 2472 | 152324987 | 152325065 | 7231 | 7308 | 2249 | 2275 |
| ENST00000444746 | 7914 | 2472 | 152324987 | 152325065 | 6909 | 6986 | 2249 | 2275 |
| 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 |
| ENST00000243326 | 15020 | 2472 | 152279463 | 152279556 | 1177 | 1269 | 231 | 262 |
| ENST00000444746 | 7914 | 2472 | 152279463 | 152279556 | 855 | 947 | 231 | 262 |
| ENST00000243326 | 15020 | 2472 | 152293340 | 152293517 | 1679 | 1855 | 398 | 457 |
| ENST00000444746 | 7914 | 2472 | 152293340 | 152293517 | 1357 | 1533 | 398 | 457 |
| ENST00000243326 | 15020 | 2472 | 152298418 | 152298505 | 2131 | 2217 | 549 | 578 |
| ENST00000444746 | 7914 | 2472 | 152298418 | 152298505 | 1809 | 1895 | 549 | 578 |
| ENST00000243326 | 15020 | 2472 | 152316513 | 152316633 | 3439 | 3558 | 985 | 1025 |
| ENST00000444746 | 7914 | 2472 | 152316513 | 152316633 | 3117 | 3236 | 985 | 1025 |
| ENST00000243326 | 15020 | 2472 | 152319397 | 152322634 | 3847 | 7083 | 1121 | 2200 |
| ENST00000444746 | 7914 | 2472 | 152319397 | 152322634 | 3525 | 6761 | 1121 | 2200 |
| ENST00000243326 | 15020 | 2472 | 152324987 | 152325065 | 7231 | 7308 | 2249 | 2275 |
| ENST00000444746 | 7914 | 2472 | 152324987 | 152325065 | 6909 | 6986 | 2249 | 2275 |
| 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 RIF1 |
| - 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. |
RIF1_LIHC_exon_skip_330351_psi_boxplot.png |
RIF1_PAAD_exon_skip_330351_psi_boxplot.png |
RIF1_SKCM_exon_skip_330351_psi_boxplot.png |
RIF1_STAD_exon_skip_330351_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-A39Y-01 | exon_skip_330336 | 152271337 | 152271433 | 152271344 | 152271344 | Frame_Shift_Del | T | - | p.I64fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_330338 | 152273321 | 152273415 | 152273360 | 152273360 | Frame_Shift_Del | A | - | p.K150fs |
| UCEC | TCGA-D1-A163-01 | exon_skip_330339 | 152279464 | 152279556 | 152279532 | 152279535 | Frame_Shift_Del | TTTG | - | p.F256fs |
| UCEC | TCGA-D1-A163-01 | exon_skip_330339 | 152279464 | 152279556 | 152279532 | 152279535 | Frame_Shift_Del | TTTG | - | p.P254fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_330339 | 152279464 | 152279556 | 152279542 | 152279542 | Frame_Shift_Del | A | - | p.K258fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_330348 | 152316514 | 152316633 | 152316564 | 152316564 | Frame_Shift_Del | A | - | p.S1002fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_330351 | 152319398 | 152322634 | 152319553 | 152319553 | Frame_Shift_Del | A | - | p.R1173fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_330351 | 152319398 | 152322634 | 152319553 | 152319553 | Frame_Shift_Del | A | - | p.R1173fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_330351 | 152319398 | 152322634 | 152319553 | 152319553 | Frame_Shift_Del | A | - | p.R1173fs |
| STAD | TCGA-BR-4256-01 | exon_skip_330351 | 152319398 | 152322634 | 152319553 | 152319553 | Frame_Shift_Del | A | - | p.R1173fs |
| STAD | TCGA-CG-5726-01 | exon_skip_330351 | 152319398 | 152322634 | 152319553 | 152319553 | Frame_Shift_Del | A | - | p.R1173fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_330351 | 152319398 | 152322634 | 152319553 | 152319553 | Frame_Shift_Del | A | - | p.R1173fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_330351 | 152319398 | 152322634 | 152319616 | 152319616 | Frame_Shift_Del | T | - | p.S1194fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_330351 | 152319398 | 152322634 | 152320527 | 152320527 | Frame_Shift_Del | A | - | p.E1498fs |
| ESCA | TCGA-Q9-A6FU-01 | exon_skip_330351 | 152319398 | 152322634 | 152320541 | 152320541 | Frame_Shift_Del | A | - | p.K1505fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_330351 | 152319398 | 152322634 | 152320541 | 152320541 | Frame_Shift_Del | A | - | p.K1505fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_330351 | 152319398 | 152322634 | 152320751 | 152320751 | Frame_Shift_Del | A | - | p.K1573fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_330351 | 152319398 | 152322634 | 152320767 | 152320767 | Frame_Shift_Del | A | - | p.E1578fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_330351 | 152319398 | 152322634 | 152320819 | 152320819 | Frame_Shift_Del | A | - | p.I1595fs |
| STAD | TCGA-BR-4370-01 | exon_skip_330351 | 152319398 | 152322634 | 152320989 | 152320989 | Frame_Shift_Del | A | - | p.E1652fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_330351 | 152319398 | 152322634 | 152321024 | 152321024 | Frame_Shift_Del | T | - | p.F1664fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_330351 | 152319398 | 152322634 | 152321050 | 152321050 | Frame_Shift_Del | A | - | p.S1672fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_330351 | 152319398 | 152322634 | 152321113 | 152321113 | Frame_Shift_Del | T | - | p.S1693fs |
| STAD | TCGA-B7-5816-01 | exon_skip_330351 | 152319398 | 152322634 | 152321244 | 152321244 | Frame_Shift_Del | A | - | p.E1737fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_330351 | 152319398 | 152322634 | 152321393 | 152321393 | Frame_Shift_Del | T | - | p.F1787fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_330351 | 152319398 | 152322634 | 152321834 | 152321834 | Frame_Shift_Del | A | - | p.K1934fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_330351 | 152319398 | 152322634 | 152321975 | 152321975 | Frame_Shift_Del | C | - | p.P1981fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_330351 | 152319398 | 152322634 | 152322173 | 152322173 | Frame_Shift_Del | A | - | p.K2047fs |
| STAD | TCGA-BR-8078-01 | exon_skip_330351 | 152319398 | 152322634 | 152322592 | 152322592 | Frame_Shift_Del | A | - | p.L2186fs |
| COAD | TCGA-A6-5665-01 | exon_skip_330339 | 152279464 | 152279556 | 152279499 | 152279500 | Frame_Shift_Ins | - | A | p.S243fs |
| LUAD | TCGA-86-6851-01 | exon_skip_330340 | 152291977 | 152292094 | 152292047 | 152292048 | Frame_Shift_Ins | - | T | p.H383fs |
| LUAD | TCGA-86-6851-01 | exon_skip_330340 | 152291977 | 152292094 | 152292047 | 152292048 | Frame_Shift_Ins | - | T | p.R383fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_330343 | 152293341 | 152293517 | 152293349 | 152293350 | Frame_Shift_Ins | - | C | p.P402fs |
| CESC | TCGA-JW-A5VL-01 | exon_skip_330348 | 152316514 | 152316633 | 152316615 | 152316616 | Frame_Shift_Ins | - | A | p.M1019fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_330351 | 152319398 | 152322634 | 152320464 | 152320465 | Frame_Shift_Ins | - | T | p.I1477fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_330351 | 152319398 | 152322634 | 152320540 | 152320541 | Frame_Shift_Ins | - | A | p.KK1502fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_330351 | 152319398 | 152322634 | 152320540 | 152320541 | Frame_Shift_Ins | - | A | p.N1502fs |
| STAD | TCGA-BR-4362-01 | exon_skip_330351 | 152319398 | 152322634 | 152321162 | 152321163 | Frame_Shift_Ins | - | A | p.E1710fs |
| STAD | TCGA-BR-4362-01 | exon_skip_330351 | 152319398 | 152322634 | 152321163 | 152321164 | Frame_Shift_Ins | - | A | p.E1710fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_330351 | 152319398 | 152322634 | 152322082 | 152322083 | Frame_Shift_Ins | - | A | p.N2017fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_330351 | 152319398 | 152322634 | 152322128 | 152322129 | Frame_Shift_Ins | - | A | p.N2032fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_330351 | 152319398 | 152322634 | 152322552 | 152322553 | Frame_Shift_Ins | - | T | p.L2173fs |
| LUAD | TCGA-78-7149-01 | exon_skip_330358 | 152330478 | 152330586 | 152330523 | 152330524 | Frame_Shift_Ins | - | A | p.E2381fs |
| LUAD | TCGA-78-7149-01 | exon_skip_330358 | 152330478 | 152330586 | 152330523 | 152330524 | Frame_Shift_Ins | - | A | p.K2381fs |
| BLCA | TCGA-2F-A9KT-01 | exon_skip_330339 | 152279464 | 152279556 | 152279482 | 152279482 | Nonsense_Mutation | C | T | p.Q238* |
| LUSC | TCGA-33-4547-01 | exon_skip_330351 | 152319398 | 152322634 | 152319636 | 152319636 | Nonsense_Mutation | C | G | p.S1201* |
| UCEC | TCGA-D1-A103-01 | exon_skip_330351 | 152319398 | 152322634 | 152320361 | 152320361 | Nonsense_Mutation | C | T | p.R1443* |
| PAAD | TCGA-IB-7651-01 | exon_skip_330351 | 152319398 | 152322634 | 152321120 | 152321120 | Nonsense_Mutation | G | T | p.E1696* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_330351 | 152319398 | 152322634 | 152321756 | 152321756 | Nonsense_Mutation | G | T | p.E1908* |
| SKCM | TCGA-EE-A3JI-06 | exon_skip_330351 | 152319398 | 152322634 | 152322470 | 152322470 | Nonsense_Mutation | C | T | p.Q2146* |
| SKCM | TCGA-EE-A3JI-06 | exon_skip_330351 | 152319398 | 152322634 | 152322470 | 152322470 | Nonsense_Mutation | C | T | p.Q2146X |
| HNSC | TCGA-HD-8224-01 | exon_skip_330351 | 152319398 | 152322634 | 152322482 | 152322482 | Nonsense_Mutation | G | T | p.E2150* |
| BLCA | TCGA-GV-A3QI-01 | exon_skip_330358 | 152330478 | 152330586 | 152330584 | 152330584 | Nonsense_Mutation | C | G | p.S2401* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IB-7651-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_330351 | |
| Skipped exon start: 152319398 | |
| Skipped exon end: 152322634 | |
| Mutation start: 152321120 | |
| Mutation end: 152321120 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E1696* | |
exon_skip_113241_PAAD_TCGA-IB-7651-01.png | |
exon_skip_115380_PAAD_TCGA-IB-7651-01.png | |
exon_skip_124564_PAAD_TCGA-IB-7651-01.png | |
exon_skip_135806_PAAD_TCGA-IB-7651-01.png | |
exon_skip_139341_PAAD_TCGA-IB-7651-01.png | |
exon_skip_153733_PAAD_TCGA-IB-7651-01.png | |
exon_skip_155805_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18053_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18056_PAAD_TCGA-IB-7651-01.png | |
exon_skip_23067_PAAD_TCGA-IB-7651-01.png | |
exon_skip_287059_PAAD_TCGA-IB-7651-01.png | |
exon_skip_294631_PAAD_TCGA-IB-7651-01.png | |
exon_skip_298512_PAAD_TCGA-IB-7651-01.png | |
exon_skip_306900_PAAD_TCGA-IB-7651-01.png | |
exon_skip_307723_PAAD_TCGA-IB-7651-01.png | |
exon_skip_315960_PAAD_TCGA-IB-7651-01.png | |
exon_skip_324675_PAAD_TCGA-IB-7651-01.png | |
exon_skip_330351_PAAD_TCGA-IB-7651-01.png | |
exon_skip_334330_PAAD_TCGA-IB-7651-01.png | |
exon_skip_341784_PAAD_TCGA-IB-7651-01.png | |
exon_skip_343314_PAAD_TCGA-IB-7651-01.png | |
exon_skip_348329_PAAD_TCGA-IB-7651-01.png | |
exon_skip_354232_PAAD_TCGA-IB-7651-01.png | |
exon_skip_370626_PAAD_TCGA-IB-7651-01.png | |
exon_skip_377740_PAAD_TCGA-IB-7651-01.png | |
exon_skip_385032_PAAD_TCGA-IB-7651-01.png | |
exon_skip_390031_PAAD_TCGA-IB-7651-01.png | |
exon_skip_422548_PAAD_TCGA-IB-7651-01.png | |
exon_skip_424536_PAAD_TCGA-IB-7651-01.png | |
exon_skip_431753_PAAD_TCGA-IB-7651-01.png | |
exon_skip_432982_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435489_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435729_PAAD_TCGA-IB-7651-01.png | |
exon_skip_441705_PAAD_TCGA-IB-7651-01.png | |
exon_skip_448879_PAAD_TCGA-IB-7651-01.png | |
exon_skip_468347_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494000_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494029_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499410_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499695_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499697_PAAD_TCGA-IB-7651-01.png | |
exon_skip_79905_PAAD_TCGA-IB-7651-01.png | |
exon_skip_80096_PAAD_TCGA-IB-7651-01.png | |
exon_skip_95924_PAAD_TCGA-IB-7651-01.png | |
 | Sample: TCGA-EE-A3JI-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_330351 | |
| Skipped exon start: 152319398 | |
| Skipped exon end: 152322634 | |
| Mutation start: 152322470 | |
| Mutation end: 152322470 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q2146X | |
| Sample: TCGA-EE-A3JI-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_330351 | |
| Skipped exon start: 152319398 | |
| Skipped exon end: 152322634 | |
| Mutation start: 152322470 | |
| Mutation end: 152322470 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q2146* | |
exon_skip_327136_SKCM_TCGA-EE-A3JI-06.png | |
exon_skip_330351_SKCM_TCGA-EE-A3JI-06.png | |
exon_skip_334535_SKCM_TCGA-EE-A3JI-06.png | |
exon_skip_503307_SKCM_TCGA-EE-A3JI-06.png | |
exon_skip_70353_SKCM_TCGA-EE-A3JI-06.png | |
exon_skip_90817_SKCM_TCGA-EE-A3JI-06.png | |
exon_skip_99033_SKCM_TCGA-EE-A3JI-06.png | |
 | Sample: TCGA-BR-4370-01 |
| Cancer type: STAD | |
| ESID: exon_skip_330351 | |
| Skipped exon start: 152319398 | |
| Skipped exon end: 152322634 | |
| Mutation start: 152320989 | |
| Mutation end: 152320989 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.E1652fs | |
exon_skip_140730_STAD_TCGA-BR-4370-01.png | |
exon_skip_2974_STAD_TCGA-BR-4370-01.png | |
exon_skip_330351_STAD_TCGA-BR-4370-01.png | |
exon_skip_357567_STAD_TCGA-BR-4370-01.png | |
exon_skip_357575_STAD_TCGA-BR-4370-01.png | |
exon_skip_357579_STAD_TCGA-BR-4370-01.png | |
exon_skip_372669_STAD_TCGA-BR-4370-01.png | |
exon_skip_383154_STAD_TCGA-BR-4370-01.png | |
exon_skip_383156_STAD_TCGA-BR-4370-01.png | |
exon_skip_389202_STAD_TCGA-BR-4370-01.png | |
exon_skip_42584_STAD_TCGA-BR-4370-01.png | |
exon_skip_439047_STAD_TCGA-BR-4370-01.png | |
exon_skip_439048_STAD_TCGA-BR-4370-01.png | |
exon_skip_450406_STAD_TCGA-BR-4370-01.png | |
exon_skip_483956_STAD_TCGA-BR-4370-01.png | |
 | Sample: TCGA-BR-4256-01 |
| Cancer type: STAD | |
| ESID: exon_skip_330351 | |
| Skipped exon start: 152319398 | |
| Skipped exon end: 152322634 | |
| Mutation start: 152319553 | |
| Mutation end: 152319553 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.R1173fs | |
exon_skip_330351_STAD_TCGA-BR-4256-01.png | |
exon_skip_332669_STAD_TCGA-BR-4256-01.png | |
exon_skip_347979_STAD_TCGA-BR-4256-01.png | |
exon_skip_347981_STAD_TCGA-BR-4256-01.png | |
exon_skip_443675_STAD_TCGA-BR-4256-01.png | |
exon_skip_54123_STAD_TCGA-BR-4256-01.png | |
exon_skip_77605_STAD_TCGA-BR-4256-01.png | |
 | Sample: TCGA-CG-5726-01 |
| Cancer type: STAD | |
| ESID: exon_skip_330351 | |
| Skipped exon start: 152319398 | |
| Skipped exon end: 152322634 | |
| Mutation start: 152319553 | |
| Mutation end: 152319553 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.R1173fs | |
exon_skip_111498_STAD_TCGA-CG-5726-01.png | |
exon_skip_1165_STAD_TCGA-CG-5726-01.png | |
exon_skip_132841_STAD_TCGA-CG-5726-01.png | |
exon_skip_32368_STAD_TCGA-CG-5726-01.png | |
exon_skip_32369_STAD_TCGA-CG-5726-01.png | |
exon_skip_330351_STAD_TCGA-CG-5726-01.png | |
exon_skip_368289_STAD_TCGA-CG-5726-01.png | |
exon_skip_439047_STAD_TCGA-CG-5726-01.png | |
exon_skip_439048_STAD_TCGA-CG-5726-01.png | |
exon_skip_440332_STAD_TCGA-CG-5726-01.png | |
exon_skip_444132_STAD_TCGA-CG-5726-01.png | |
exon_skip_462138_STAD_TCGA-CG-5726-01.png | |
exon_skip_462144_STAD_TCGA-CG-5726-01.png | |
exon_skip_464954_STAD_TCGA-CG-5726-01.png | |
exon_skip_49506_STAD_TCGA-CG-5726-01.png | |
exon_skip_70838_STAD_TCGA-CG-5726-01.png | |
exon_skip_924_STAD_TCGA-CG-5726-01.png | |
exon_skip_94969_STAD_TCGA-CG-5726-01.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 |
| CW2_LARGE_INTESTINE | 152316514 | 152316633 | 152316604 | 152316604 | Frame_Shift_Del | A | - | p.K1017fs |
| MDAPCA2B_PROSTATE | 152319398 | 152322634 | 152319553 | 152319553 | Frame_Shift_Del | A | - | p.R1173fs |
| HEC108_ENDOMETRIUM | 152319398 | 152322634 | 152320541 | 152320541 | Frame_Shift_Del | A | - | p.K1505fs |
| SNU46_UPPER_AERODIGESTIVE_TRACT | 152319398 | 152322634 | 152320541 | 152320541 | Frame_Shift_Del | A | - | p.K1505fs |
| SKUT1_SOFT_TISSUE | 152319398 | 152322634 | 152320541 | 152320541 | Frame_Shift_Del | A | - | p.K1505fs |
| SNU520_STOMACH | 152319398 | 152322634 | 152321320 | 152321320 | Frame_Shift_Del | A | - | p.T1762fs |
| SNUC5_LARGE_INTESTINE | 152319398 | 152322634 | 152321320 | 152321320 | Frame_Shift_Del | A | - | p.T1762fs |
| SNU349_KIDNEY | 152330478 | 152330586 | 152330524 | 152330524 | Frame_Shift_Del | A | - | p.E2381fs |
| LS411N_LARGE_INTESTINE | 152319398 | 152322634 | 152320159 | 152320160 | Frame_Shift_Ins | - | A | p.K1376fs |
| HCT116_LARGE_INTESTINE | 152319398 | 152322634 | 152320349 | 152320350 | Frame_Shift_Ins | - | A | p.Q1439fs |
| BICR6_UPPER_AERODIGESTIVE_TRACT | 152319398 | 152322634 | 152320565 | 152320566 | Frame_Shift_Ins | - | T | p.I1511fs |
| CW2_LARGE_INTESTINE | 152319398 | 152322634 | 152320988 | 152320989 | Frame_Shift_Ins | - | A | p.E1652fs |
| NCIH1184_LUNG | 152319398 | 152322634 | 152321268 | 152321288 | In_Frame_Del | CACTCATTGGGTTAAAGAATA | - | p.LIGLKNT1746del |
| PACADD161_PANCREAS | 152330478 | 152330586 | 152330495 | 152330497 | In_Frame_Del | AGA | - | p.E2373del |
| JHUEM7_ENDOMETRIUM | 152273321 | 152273415 | 152273333 | 152273333 | Missense_Mutation | A | C | p.I141L |
| SNU1040_LARGE_INTESTINE | 152273321 | 152273415 | 152273385 | 152273385 | Missense_Mutation | T | C | p.V158A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 152273321 | 152273415 | 152273411 | 152273411 | Missense_Mutation | G | A | p.V167I |
| HCC2450_LUNG | 152279464 | 152279556 | 152279496 | 152279496 | Missense_Mutation | G | C | p.M242I |
| SNU407_LARGE_INTESTINE | 152291977 | 152292094 | 152291986 | 152291986 | Missense_Mutation | C | T | p.P363S |
| BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152291977 | 152292094 | 152292013 | 152292013 | Missense_Mutation | G | A | p.D372N |
| EW3_BONE | 152293341 | 152293517 | 152293350 | 152293350 | Missense_Mutation | C | T | p.S402F |
| MCC13_SKIN | 152293341 | 152293517 | 152293374 | 152293374 | Missense_Mutation | C | T | p.P410L |
| SW900_LUNG | 152293341 | 152293517 | 152293412 | 152293412 | Missense_Mutation | A | C | p.T423P |
| SNU175_LARGE_INTESTINE | 152293341 | 152293517 | 152293470 | 152293470 | Missense_Mutation | C | A | p.P442Q |
| GAK_SKIN | 152293341 | 152293517 | 152293475 | 152293475 | Missense_Mutation | G | A | p.A444T |
| PL4_PANCREAS | 152293341 | 152293517 | 152293476 | 152293476 | Missense_Mutation | C | T | p.A444V |
| JHH7_LIVER | 152293341 | 152293517 | 152293492 | 152293492 | Missense_Mutation | G | C | p.K449N |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 152298419 | 152298505 | 152298453 | 152298453 | Missense_Mutation | A | C | p.Q561P |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152298419 | 152298505 | 152298453 | 152298453 | Missense_Mutation | A | C | p.Q561P |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 152298419 | 152298505 | 152298468 | 152298468 | Missense_Mutation | C | T | p.S566L |
| LNZ308_CENTRAL_NERVOUS_SYSTEM | 152298419 | 152298505 | 152298468 | 152298468 | Missense_Mutation | C | T | p.S566L |
| NCIH854_LUNG | 152298419 | 152298505 | 152298470 | 152298470 | Missense_Mutation | C | G | p.P567A |
| JHUEM1_ENDOMETRIUM | 152298419 | 152298505 | 152298483 | 152298483 | Missense_Mutation | T | C | p.V571A |
| NCIH1436_LUNG | 152316514 | 152316633 | 152316529 | 152316529 | Missense_Mutation | C | G | p.L991V |
| PA1_OVARY | 152319398 | 152322634 | 152319401 | 152319401 | Missense_Mutation | G | A | p.E1123K |
| VMRCRCW_KIDNEY | 152319398 | 152322634 | 152319462 | 152319462 | Missense_Mutation | A | G | p.E1143G |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152319398 | 152322634 | 152319599 | 152319599 | Missense_Mutation | T | C | p.S1189P |
| QIMRWIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152319398 | 152322634 | 152319913 | 152319913 | Missense_Mutation | A | C | p.K1293N |
| MCC13_SKIN | 152319398 | 152322634 | 152319962 | 152319962 | Missense_Mutation | C | T | p.P1310S |
| MCC13_SKIN | 152319398 | 152322634 | 152319963 | 152319963 | Missense_Mutation | C | A | p.P1310Q |
| GP5D_LARGE_INTESTINE | 152319398 | 152322634 | 152319989 | 152319989 | Missense_Mutation | G | A | p.E1319K |
| NCIH630_LARGE_INTESTINE | 152319398 | 152322634 | 152320004 | 152320004 | Missense_Mutation | T | G | p.L1324V |
| SNUC2A_LARGE_INTESTINE | 152319398 | 152322634 | 152320049 | 152320049 | Missense_Mutation | T | C | p.S1339P |
| SNUC2B_LARGE_INTESTINE | 152319398 | 152322634 | 152320049 | 152320049 | Missense_Mutation | T | C | p.S1339P |
| JHUEM7_ENDOMETRIUM | 152319398 | 152322634 | 152320192 | 152320192 | Missense_Mutation | G | T | p.E1386D |
| HEC1A_ENDOMETRIUM | 152319398 | 152322634 | 152320202 | 152320202 | Missense_Mutation | C | A | p.P1390T |
| NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152319398 | 152322634 | 152320214 | 152320214 | Missense_Mutation | T | C | p.S1394P |
| HSC3_UPPER_AERODIGESTIVE_TRACT | 152319398 | 152322634 | 152320214 | 152320214 | Missense_Mutation | T | C | p.S1394P |
| HEC151_ENDOMETRIUM | 152319398 | 152322634 | 152320241 | 152320241 | Missense_Mutation | A | G | p.S1403G |
| SNUC4_LARGE_INTESTINE | 152319398 | 152322634 | 152320281 | 152320281 | Missense_Mutation | G | A | p.R1416Q |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152319398 | 152322634 | 152320289 | 152320289 | Missense_Mutation | A | T | p.R1419W |
| RKO_LARGE_INTESTINE | 152319398 | 152322634 | 152320323 | 152320323 | Missense_Mutation | A | G | p.E1430G |
| LNCAPCLONEFGC_PROSTATE | 152319398 | 152322634 | 152320397 | 152320397 | Missense_Mutation | C | A | p.P1455T |
| SNU1040_LARGE_INTESTINE | 152319398 | 152322634 | 152320418 | 152320418 | Missense_Mutation | G | A | p.V1462M |
| COLO680N_OESOPHAGUS | 152319398 | 152322634 | 152320454 | 152320454 | Missense_Mutation | C | G | p.L1474V |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152319398 | 152322634 | 152320580 | 152320580 | Missense_Mutation | G | A | p.D1516N |
| CL14_LARGE_INTESTINE | 152319398 | 152322634 | 152320676 | 152320676 | Missense_Mutation | A | G | p.S1548G |
| SNU81_LARGE_INTESTINE | 152319398 | 152322634 | 152320695 | 152320695 | Missense_Mutation | C | T | p.S1554F |
| GP2D_LARGE_INTESTINE | 152319398 | 152322634 | 152320755 | 152320755 | Missense_Mutation | A | G | p.N1574S |
| GP5D_LARGE_INTESTINE | 152319398 | 152322634 | 152320755 | 152320755 | Missense_Mutation | A | G | p.N1574S |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152319398 | 152322634 | 152320760 | 152320760 | Missense_Mutation | A | C | p.S1576R |
| HEC50B_ENDOMETRIUM | 152319398 | 152322634 | 152320814 | 152320814 | Missense_Mutation | T | C | p.C1594R |
| CAMA1_BREAST | 152319398 | 152322634 | 152320826 | 152320826 | Missense_Mutation | G | A | p.E1598K |
| NCIH82_LUNG | 152319398 | 152322634 | 152320884 | 152320884 | Missense_Mutation | C | T | p.P1617L |
| HEC251_ENDOMETRIUM | 152319398 | 152322634 | 152320896 | 152320896 | Missense_Mutation | A | C | p.K1621T |
| NCIH187_LUNG | 152319398 | 152322634 | 152320997 | 152320997 | Missense_Mutation | G | C | p.E1655Q |
| HS229T_FIBROBLAST | 152319398 | 152322634 | 152321028 | 152321028 | Missense_Mutation | C | T | p.T1665I |
| SNU175_LARGE_INTESTINE | 152319398 | 152322634 | 152321037 | 152321037 | Missense_Mutation | C | A | p.P1668H |
| LS411N_LARGE_INTESTINE | 152319398 | 152322634 | 152321160 | 152321160 | Missense_Mutation | C | T | p.S1709L |
| CAL51_BREAST | 152319398 | 152322634 | 152321207 | 152321207 | Missense_Mutation | A | G | p.R1725G |
| CCK81_LARGE_INTESTINE | 152319398 | 152322634 | 152321234 | 152321234 | Missense_Mutation | T | C | p.C1734R |
| HCE4_OESOPHAGUS | 152319398 | 152322634 | 152321284 | 152321284 | Missense_Mutation | G | C | p.K1750N |
| SNU81_LARGE_INTESTINE | 152319398 | 152322634 | 152321284 | 152321284 | Missense_Mutation | G | T | p.K1750N |
| HCC2218_BREAST | 152319398 | 152322634 | 152321384 | 152321384 | Missense_Mutation | G | A | p.E1784K |
| LS411N_LARGE_INTESTINE | 152319398 | 152322634 | 152321400 | 152321400 | Missense_Mutation | A | G | p.D1789G |
| GP2D_LARGE_INTESTINE | 152319398 | 152322634 | 152321600 | 152321600 | Missense_Mutation | A | G | p.N1856D |
| HCC2450_LUNG | 152319398 | 152322634 | 152321652 | 152321652 | Missense_Mutation | C | T | p.S1873L |
| SNGM_ENDOMETRIUM | 152319398 | 152322634 | 152321656 | 152321656 | Missense_Mutation | G | T | p.Q1874H |
| HCT15_LARGE_INTESTINE | 152319398 | 152322634 | 152321666 | 152321666 | Missense_Mutation | G | A | p.E1878K |
| HRT18_LARGE_INTESTINE | 152319398 | 152322634 | 152321666 | 152321666 | Missense_Mutation | G | A | p.E1878K |
| G402_SOFT_TISSUE | 152319398 | 152322634 | 152321867 | 152321867 | Missense_Mutation | G | A | p.E1945K |
| HCC2218_BREAST | 152319398 | 152322634 | 152321897 | 152321897 | Missense_Mutation | G | C | p.D1955H |
| SNU1040_LARGE_INTESTINE | 152319398 | 152322634 | 152321979 | 152321979 | Missense_Mutation | T | C | p.V1982A |
| NCIBL2122_MATCHED_NORMAL_TISSUE | 152319398 | 152322634 | 152322042 | 152322042 | Missense_Mutation | A | G | p.N2003S |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152319398 | 152322634 | 152322113 | 152322113 | Missense_Mutation | G | A | p.G2027S |
| KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152319398 | 152322634 | 152322113 | 152322113 | Missense_Mutation | G | A | p.G2027S |
| SKES1_BONE | 152319398 | 152322634 | 152322126 | 152322126 | Missense_Mutation | C | G | p.A2031G |
| MERO41_LUNG | 152319398 | 152322634 | 152322257 | 152322257 | Missense_Mutation | A | G | p.T2075A |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152319398 | 152322634 | 152322357 | 152322357 | Missense_Mutation | A | G | p.D2108G |
| HCC56_LARGE_INTESTINE | 152319398 | 152322634 | 152322417 | 152322417 | Missense_Mutation | C | T | p.A2128V |
| NCIH1770_LUNG | 152319398 | 152322634 | 152322491 | 152322491 | Missense_Mutation | C | T | p.P2153S |
| NCIH2106_LUNG | 152319398 | 152322634 | 152322491 | 152322491 | Missense_Mutation | C | T | p.P2153S |
| KY821_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152319398 | 152322634 | 152322537 | 152322537 | Missense_Mutation | G | A | p.R2168H |
| JHUEM7_ENDOMETRIUM | 152324988 | 152325065 | 152325013 | 152325013 | Missense_Mutation | T | G | p.F2258C |
| CW2_LARGE_INTESTINE | 152330478 | 152330586 | 152330553 | 152330553 | Missense_Mutation | T | A | p.S2391T |
| MCC13_SKIN | 152319398 | 152322634 | 152319962 | 152319963 | Nonsense_Mutation | CC | TA | p.P1310* |
| SNU1040_LARGE_INTESTINE | 152319398 | 152322634 | 152320292 | 152320292 | Nonsense_Mutation | C | T | p.R1420* |
| HEC6_ENDOMETRIUM | 152319398 | 152322634 | 152320361 | 152320361 | Nonsense_Mutation | C | T | p.R1443* |
| TC71_BONE | 152319398 | 152322634 | 152321357 | 152321357 | Nonsense_Mutation | G | T | p.E1775* |
| HT115_LARGE_INTESTINE | 152319398 | 152322634 | 152321603 | 152321603 | Nonsense_Mutation | G | T | p.E1857* |
| SNU81_LARGE_INTESTINE | 152319398 | 152322634 | 152321675 | 152321675 | Nonsense_Mutation | G | T | p.E1881* |
| WM1552C_SKIN | 152319398 | 152322634 | 152321687 | 152321687 | Nonsense_Mutation | G | T | p.E1885* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RIF1 |
| 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_330351 | 2 | 152318925:152318980:152319397:152322634:152324513:152324660 | 152319397:152322634 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000243326.5,ENST00000453091.2 | GBM | rs2123465 | chr2:152320118 | G/A | 9.75e-04 |
| exon_skip_330351 | 2 | 152318925:152318980:152319397:152322634:152324513:152324660 | 152319397:152322634 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000243326.5,ENST00000453091.2 | COAD | rs2444257 | chr2:152322095 | A/T | 1.69e-03 |
| exon_skip_330351 | 2 | 152318925:152318980:152319397:152322634:152324513:152324660 | 152319397:152322634 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000243326.5,ENST00000453091.2 | BLCA | rs2123465 | chr2:152320118 | G/A | 1.37e-03 |
| exon_skip_330351 | 2 | 152318925:152318980:152319397:152322634:152324513:152324660 | 152319397:152322634 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000243326.5,ENST00000453091.2 | HNSC | rs2123465 | chr2:152320118 | G/A | 2.93e-04 |
| exon_skip_330351 | 2 | 152318925:152318980:152319397:152322634:152324513:152324660 | 152319397:152322634 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000243326.5,ENST00000453091.2 | HNSC | rs2444257 | chr2:152322095 | A/T | 1.57e-03 |
| exon_skip_330351 | 2 | 152318925:152318980:152319397:152322634:152324513:152324660 | 152319397:152322634 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000243326.5,ENST00000453091.2 | BRCA | rs2123465 | chr2:152320118 | G/A | 3.83e-08 |
| exon_skip_330351 | 2 | 152318925:152318980:152319397:152322634:152324513:152324660 | 152319397:152322634 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000243326.5,ENST00000453091.2 | BRCA | rs2444257 | chr2:152322095 | A/T | 6.29e-06 |
| exon_skip_330351 | 2 | 152318925:152318980:152319397:152322634:152324513:152324660 | 152319397:152322634 | ENST00000444746.2,ENST00000428287.2,ENST00000430328.2,ENST00000243326.5,ENST00000453091.2 | OV | rs2123465 | chr2:152320118 | G/A | 2.21e-03 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIF1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIF1 |
Top |
RelatedDrugs for RIF1 |
| 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 RIF1 |
| 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)
|