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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 KIF13A |
Gene summary |
Gene information | Gene symbol | KIF13A | Gene ID | 63971 |
Gene name | kinesin family member 13A | |
Synonyms | RBKIN|bA500C11.2 | |
Cytomap | 6p22.3 | |
Type of gene | protein-coding | |
Description | kinesin-like protein KIF13Ahomolog of mouse KIF13A mannose-6-phosphate receptor transporterkinesin-like protein RBKIN | |
Modification date | 20180523 | |
UniProtAcc | Q9H1H9 | |
Context | PubMed: KIF13A [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 KIF13A 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 KIF13A |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for KIF13A |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_456456 | 6 | 17759484:17761108:17764385:17765177:17772138:17772290 | 17764385:17765177 | ENSG00000137177.14 | ENST00000378814.5 |
exon_skip_456460 | 6 | 17764385:17765177:17771344:17771449:17772138:17772290 | 17771344:17771449 | ENSG00000137177.14 | ENST00000502297.1,ENST00000259711.6 |
exon_skip_456462 | 6 | 17764385:17765177:17772138:17772290:17773708:17773814 | 17772138:17772290 | ENSG00000137177.14 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000378826.2 |
exon_skip_456468 | 6 | 17773708:17773814:17775245:17775293:17777507:17777585 | 17775245:17775293 | ENSG00000137177.14 | ENST00000378843.2,ENST00000502297.1,ENST00000378816.5,ENST00000358380.6,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 |
exon_skip_456469 | 6 | 17775245:17775293:17777507:17777585:17779177:17779330 | 17777507:17777585 | ENSG00000137177.14 | ENST00000378843.2,ENST00000502297.1,ENST00000378816.5,ENST00000358380.6,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 |
exon_skip_456470 | 6 | 17777507:17777585:17779177:17779330:17779822:17779915 | 17779177:17779330 | ENSG00000137177.14 | ENST00000378843.2,ENST00000502297.1,ENST00000378816.5,ENST00000358380.6,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 |
exon_skip_456473 | 6 | 17779177:17779330:17779822:17779915:17780960:17781137 | 17779822:17779915 | ENSG00000137177.14 | ENST00000378843.2,ENST00000502297.1,ENST00000378816.5,ENST00000358380.6,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 |
exon_skip_456474 | 6 | 17785823:17785872:17788006:17788106:17794479:17794626 | 17788006:17788106 | ENSG00000137177.14 | ENST00000378843.2,ENST00000502297.1,ENST00000514714.1,ENST00000378814.5 |
exon_skip_456475 | 6 | 17785823:17785872:17788006:17788106:17794802:17794928 | 17788006:17788106 | ENSG00000137177.14 | ENST00000506044.1 |
exon_skip_456477 | 6 | 17788006:17788106:17790102:17790141:17794479:17794612 | 17790102:17790141 | ENSG00000137177.14 | ENST00000378816.5,ENST00000358380.6,ENST00000259711.6,ENST00000378826.2 |
exon_skip_456480 | 6 | 17788006:17788106:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENSG00000137177.14 | ENST00000378843.2,ENST00000502297.1,ENST00000514714.1,ENST00000378814.5 |
exon_skip_456482 | 6 | 17790102:17790141:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENSG00000137177.14 | ENST00000378816.5,ENST00000358380.6,ENST00000259711.6,ENST00000378826.2 |
exon_skip_456484 | 6 | 17794802:17794935:17796899:17797051:17799496:17799670 | 17796899:17797051 | ENSG00000137177.14 | ENST00000378843.2,ENST00000378816.5,ENST00000358380.6,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 |
exon_skip_456485 | 6 | 17805705:17805846:17808998:17809161:17817250:17817421 | 17808998:17809161 | ENSG00000137177.14 | ENST00000378843.2,ENST00000378816.5,ENST00000358380.6,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 |
exon_skip_456488 | 6 | 17808998:17809161:17817250:17817464:17825998:17826165 | 17817250:17817464 | ENSG00000137177.14 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENSG00000137177.14 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 |
exon_skip_456493 | 6 | 17834191:17834302:17837108:17837321:17837702:17837814 | 17837108:17837321 | ENSG00000137177.14 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 |
exon_skip_456495 | 6 | 17856260:17856353:17873607:17873668:17898398:17898411 | 17873607:17873668 | ENSG00000137177.14 | ENST00000378843.2,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 |
exon_skip_456496 | 6 | 17856260:17856353:17873607:17873668:17987284:17987308 | 17873607:17873668 | ENSG00000137177.14 | ENST00000507576.1 |
exon_skip_456498 | 6 | 17873607:17873668:17898398:17898411:17987284:17987308 | 17898398:17898411 | ENSG00000137177.14 | ENST00000378843.2,ENST00000505588.1,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KIF13A |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_456456 | 6 | 17759484:17761108:17764385:17765177:17772138:17772290 | 17764385:17765177 | ENSG00000137177.14 | ENST00000378814.5 |
exon_skip_456460 | 6 | 17764385:17765177:17771344:17771449:17772138:17772290 | 17771344:17771449 | ENSG00000137177.14 | ENST00000502297.1,ENST00000259711.6 |
exon_skip_456462 | 6 | 17764385:17765177:17772138:17772290:17773708:17773814 | 17772138:17772290 | ENSG00000137177.14 | ENST00000378814.5,ENST00000378843.2,ENST00000378826.2,ENST00000378816.5 |
exon_skip_456468 | 6 | 17773708:17773814:17775245:17775293:17777507:17777585 | 17775245:17775293 | ENSG00000137177.14 | ENST00000378814.5,ENST00000502297.1,ENST00000259711.6,ENST00000378843.2,ENST00000378826.2,ENST00000378816.5,ENST00000358380.6 |
exon_skip_456469 | 6 | 17775245:17775293:17777507:17777585:17779177:17779330 | 17777507:17777585 | ENSG00000137177.14 | ENST00000378814.5,ENST00000502297.1,ENST00000259711.6,ENST00000378843.2,ENST00000378826.2,ENST00000378816.5,ENST00000358380.6 |
exon_skip_456470 | 6 | 17777507:17777585:17779177:17779330:17779822:17779915 | 17779177:17779330 | ENSG00000137177.14 | ENST00000378814.5,ENST00000502297.1,ENST00000259711.6,ENST00000378843.2,ENST00000378826.2,ENST00000378816.5,ENST00000358380.6 |
exon_skip_456473 | 6 | 17779177:17779330:17779822:17779915:17780960:17781137 | 17779822:17779915 | ENSG00000137177.14 | ENST00000378814.5,ENST00000502297.1,ENST00000259711.6,ENST00000378843.2,ENST00000378826.2,ENST00000378816.5,ENST00000358380.6 |
exon_skip_456474 | 6 | 17785823:17785872:17788006:17788106:17794479:17794626 | 17788006:17788106 | ENSG00000137177.14 | ENST00000378814.5,ENST00000502297.1,ENST00000378843.2,ENST00000514714.1 |
exon_skip_456475 | 6 | 17785823:17785872:17788006:17788106:17794802:17794928 | 17788006:17788106 | ENSG00000137177.14 | ENST00000506044.1 |
exon_skip_456477 | 6 | 17788006:17788106:17790102:17790141:17794479:17794612 | 17790102:17790141 | ENSG00000137177.14 | ENST00000259711.6,ENST00000378826.2,ENST00000378816.5,ENST00000358380.6 |
exon_skip_456480 | 6 | 17788006:17788106:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENSG00000137177.14 | ENST00000378814.5,ENST00000502297.1,ENST00000378843.2,ENST00000514714.1 |
exon_skip_456482 | 6 | 17790102:17790141:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENSG00000137177.14 | ENST00000259711.6,ENST00000378826.2,ENST00000378816.5,ENST00000358380.6 |
exon_skip_456484 | 6 | 17794802:17794935:17796899:17797051:17799496:17799670 | 17796899:17797051 | ENSG00000137177.14 | ENST00000378814.5,ENST00000259711.6,ENST00000378843.2,ENST00000378826.2,ENST00000378816.5,ENST00000358380.6 |
exon_skip_456485 | 6 | 17805705:17805846:17808998:17809161:17817250:17817421 | 17808998:17809161 | ENSG00000137177.14 | ENST00000378814.5,ENST00000259711.6,ENST00000378843.2,ENST00000378826.2,ENST00000378816.5,ENST00000358380.6 |
exon_skip_456488 | 6 | 17808998:17809161:17817250:17817464:17825998:17826165 | 17817250:17817464 | ENSG00000137177.14 | ENST00000378814.5,ENST00000259711.6,ENST00000378843.2,ENST00000378826.2,ENST00000378816.5 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENSG00000137177.14 | ENST00000378814.5,ENST00000259711.6,ENST00000378843.2,ENST00000378826.2,ENST00000378816.5 |
exon_skip_456493 | 6 | 17834191:17834302:17837108:17837321:17837702:17837814 | 17837108:17837321 | ENSG00000137177.14 | ENST00000378814.5,ENST00000259711.6,ENST00000378843.2,ENST00000378826.2,ENST00000378816.5 |
exon_skip_456495 | 6 | 17856260:17856353:17873607:17873668:17898398:17898411 | 17873607:17873668 | ENSG00000137177.14 | ENST00000378814.5,ENST00000259711.6,ENST00000378843.2,ENST00000378826.2 |
exon_skip_456496 | 6 | 17856260:17856353:17873607:17873668:17987284:17987308 | 17873607:17873668 | ENSG00000137177.14 | ENST00000507576.1 |
exon_skip_456498 | 6 | 17873607:17873668:17898398:17898411:17987284:17987308 | 17898398:17898411 | ENSG00000137177.14 | ENST00000378814.5,ENST00000259711.6,ENST00000378843.2,ENST00000378826.2,ENST00000505588.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for KIF13A |
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 |
ENST00000259711 | 17796899 | 17797051 | Frame-shift |
ENST00000259711 | 17808998 | 17809161 | Frame-shift |
ENST00000259711 | 17817250 | 17817464 | Frame-shift |
ENST00000259711 | 17873607 | 17873668 | Frame-shift |
ENST00000259711 | 17898398 | 17898411 | Frame-shift |
ENST00000259711 | 17771344 | 17771449 | In-frame |
ENST00000259711 | 17775245 | 17775293 | In-frame |
ENST00000259711 | 17777507 | 17777585 | In-frame |
ENST00000259711 | 17779177 | 17779330 | In-frame |
ENST00000259711 | 17779822 | 17779915 | In-frame |
ENST00000259711 | 17790102 | 17790141 | In-frame |
ENST00000259711 | 17794479 | 17794626 | In-frame |
ENST00000259711 | 17834191 | 17834302 | In-frame |
ENST00000259711 | 17837108 | 17837321 | 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 |
ENST00000259711 | 17796899 | 17797051 | Frame-shift |
ENST00000259711 | 17808998 | 17809161 | Frame-shift |
ENST00000259711 | 17817250 | 17817464 | Frame-shift |
ENST00000259711 | 17873607 | 17873668 | Frame-shift |
ENST00000259711 | 17898398 | 17898411 | Frame-shift |
ENST00000259711 | 17771344 | 17771449 | In-frame |
ENST00000259711 | 17775245 | 17775293 | In-frame |
ENST00000259711 | 17777507 | 17777585 | In-frame |
ENST00000259711 | 17779177 | 17779330 | In-frame |
ENST00000259711 | 17779822 | 17779915 | In-frame |
ENST00000259711 | 17790102 | 17790141 | In-frame |
ENST00000259711 | 17794479 | 17794626 | In-frame |
ENST00000259711 | 17834191 | 17834302 | In-frame |
ENST00000259711 | 17837108 | 17837321 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KIF13A |
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 |
ENST00000259711 | 5958 | 1805 | 17837108 | 17837321 | 1049 | 1261 | 314 | 385 |
ENST00000259711 | 5958 | 1805 | 17834191 | 17834302 | 1262 | 1372 | 385 | 422 |
ENST00000259711 | 5958 | 1805 | 17794479 | 17794626 | 3182 | 3328 | 1025 | 1074 |
ENST00000259711 | 5958 | 1805 | 17790102 | 17790141 | 3329 | 3367 | 1074 | 1087 |
ENST00000259711 | 5958 | 1805 | 17779822 | 17779915 | 3953 | 4045 | 1282 | 1313 |
ENST00000259711 | 5958 | 1805 | 17779177 | 17779330 | 4046 | 4198 | 1313 | 1364 |
ENST00000259711 | 5958 | 1805 | 17777507 | 17777585 | 4199 | 4276 | 1364 | 1390 |
ENST00000259711 | 5958 | 1805 | 17775245 | 17775293 | 4277 | 4324 | 1390 | 1406 |
ENST00000259711 | 5958 | 1805 | 17771344 | 17771449 | 4583 | 4687 | 1492 | 1527 |
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 |
ENST00000259711 | 5958 | 1805 | 17837108 | 17837321 | 1049 | 1261 | 314 | 385 |
ENST00000259711 | 5958 | 1805 | 17834191 | 17834302 | 1262 | 1372 | 385 | 422 |
ENST00000259711 | 5958 | 1805 | 17794479 | 17794626 | 3182 | 3328 | 1025 | 1074 |
ENST00000259711 | 5958 | 1805 | 17790102 | 17790141 | 3329 | 3367 | 1074 | 1087 |
ENST00000259711 | 5958 | 1805 | 17779822 | 17779915 | 3953 | 4045 | 1282 | 1313 |
ENST00000259711 | 5958 | 1805 | 17779177 | 17779330 | 4046 | 4198 | 1313 | 1364 |
ENST00000259711 | 5958 | 1805 | 17777507 | 17777585 | 4199 | 4276 | 1364 | 1390 |
ENST00000259711 | 5958 | 1805 | 17775245 | 17775293 | 4277 | 4324 | 1390 | 1406 |
ENST00000259711 | 5958 | 1805 | 17771344 | 17771449 | 4583 | 4687 | 1492 | 1527 |
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 KIF13A |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_456456 | 17764386 | 17765177 | 17764457 | 17764457 | Frame_Shift_Del | T | - | p.T1720fs |
LUAD | TCGA-05-4426-01 | exon_skip_456456 | 17764386 | 17765177 | 17764530 | 17764531 | Frame_Shift_Del | CT | - | p.E1695fs |
LUAD | TCGA-05-4426-01 | exon_skip_456456 | 17764386 | 17765177 | 17764530 | 17764531 | Frame_Shift_Del | CT | - | p.E1743fs |
KIRC | TCGA-B0-4823-01 | exon_skip_456456 | 17764386 | 17765177 | 17764666 | 17764666 | Frame_Shift_Del | G | - | p.S1650fs |
KIRC | TCGA-B0-4823-01 | exon_skip_456456 | 17764386 | 17765177 | 17764666 | 17764666 | Frame_Shift_Del | G | - | p.S1698fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_456456 | 17764386 | 17765177 | 17764728 | 17764728 | Frame_Shift_Del | T | - | p.K1629fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_456456 | 17764386 | 17765177 | 17765089 | 17765089 | Frame_Shift_Del | A | - | p.F1509fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_456462 | 17772139 | 17772290 | 17772215 | 17772215 | Frame_Shift_Del | A | - | p.F1454fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_456462 | 17772139 | 17772290 | 17772247 | 17772247 | Frame_Shift_Del | A | - | p.F1443fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_456462 | 17772139 | 17772290 | 17772247 | 17772247 | Frame_Shift_Del | A | - | p.F1443fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_456473 | 17779823 | 17779915 | 17779867 | 17779867 | Frame_Shift_Del | A | - | p.Y1286fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_456473 | 17779823 | 17779915 | 17779867 | 17779867 | Frame_Shift_Del | A | - | p.Y1286fs |
ESCA | TCGA-L5-A8NM-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788023 | 17788023 | Frame_Shift_Del | T | - | p.K1102fs |
ESCA | TCGA-L5-A8NM-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788023 | 17788023 | Frame_Shift_Del | T | - | p.V1116fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788023 | 17788023 | Frame_Shift_Del | T | - | p.K1102fs |
STAD | TCGA-B7-5816-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788023 | 17788023 | Frame_Shift_Del | T | - | p.V1116fs |
STAD | TCGA-BR-4256-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788023 | 17788023 | Frame_Shift_Del | T | - | p.V1116fs |
STAD | TCGA-CD-A4MG-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788023 | 17788023 | Frame_Shift_Del | T | - | p.V1116fs |
STAD | TCGA-FP-A4BE-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788023 | 17788023 | Frame_Shift_Del | T | - | p.K1115fs |
STAD | TCGA-FP-A4BE-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788023 | 17788023 | Frame_Shift_Del | T | - | p.V1116fs |
GBM | TCGA-27-1836-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788096 | 17788097 | Frame_Shift_Del | AA | - | p.L1091fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_456488 | 17817251 | 17817464 | 17817413 | 17817413 | Frame_Shift_Del | T | - | p.K613fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_456490 | 17834192 | 17834302 | 17834246 | 17834246 | Frame_Shift_Del | T | - | p.K404fs |
STAD | TCGA-BR-8372-01 | exon_skip_456493 | 17837109 | 17837321 | 17837127 | 17837128 | Frame_Shift_Del | CT | - | p.379_380del |
STAD | TCGA-BR-8372-01 | exon_skip_456493 | 17837109 | 17837321 | 17837127 | 17837128 | Frame_Shift_Del | CT | - | p.E379fs |
COAD | TCGA-G4-6320-01 | exon_skip_456493 | 17837109 | 17837321 | 17837308 | 17837308 | Frame_Shift_Del | C | - | p.G319fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_456493 | 17837109 | 17837321 | 17837308 | 17837308 | Frame_Shift_Del | C | - | p.G319fs |
STAD | TCGA-CG-5721-01 | exon_skip_456493 | 17837109 | 17837321 | 17837308 | 17837308 | Frame_Shift_Del | C | - | p.G319fs |
UCEC | TCGA-D1-A176-01 | exon_skip_456493 | 17837109 | 17837321 | 17837308 | 17837308 | Frame_Shift_Del | C | - | p.G319fs |
LIHC | TCGA-BC-A112-01 | exon_skip_456456 | 17764386 | 17765177 | 17764604 | 17764605 | Frame_Shift_Ins | - | G | p.PG1670fs |
UCEC | TCGA-AX-A0IS-01 | exon_skip_456462 | 17772139 | 17772290 | 17772211 | 17772212 | Frame_Shift_Ins | - | T | p.K1468fs |
COAD | TCGA-AZ-4615-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788022 | 17788023 | Frame_Shift_Ins | - | T | p.V1103fs |
STAD | TCGA-BR-8363-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788022 | 17788023 | Frame_Shift_Ins | - | T | p.V1116fs |
STAD | TCGA-CG-4465-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788022 | 17788023 | Frame_Shift_Ins | - | T | p.K1115fs |
STAD | TCGA-CG-4465-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788022 | 17788023 | Frame_Shift_Ins | - | T | p.V1116fs |
STAD | TCGA-BR-8363-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788023 | 17788024 | Frame_Shift_Ins | - | T | p.K1115fs |
STAD | TCGA-CG-4465-01 | exon_skip_456475 exon_skip_456474 | 17788007 | 17788106 | 17788023 | 17788024 | Frame_Shift_Ins | - | T | p.K1115fs |
KIRC | TCGA-A3-3378-01 | exon_skip_456493 | 17837109 | 17837321 | 17837307 | 17837308 | Frame_Shift_Ins | - | C | p.E319fs |
LUAD | TCGA-44-2655-01 | exon_skip_456493 | 17837109 | 17837321 | 17837307 | 17837308 | Frame_Shift_Ins | - | C | p.E319fs |
LUAD | TCGA-44-2656-01 | exon_skip_456493 | 17837109 | 17837321 | 17837307 | 17837308 | Frame_Shift_Ins | - | C | p.G319fs |
LUAD | TCGA-44-2666-01 | exon_skip_456493 | 17837109 | 17837321 | 17837307 | 17837308 | Frame_Shift_Ins | - | C | p.E319fs |
PAAD | TCGA-FB-AAQ0-01 | exon_skip_456493 | 17837109 | 17837321 | 17837307 | 17837308 | Frame_Shift_Ins | - | C | p.E319fs |
LUAD | TCGA-44-3918-01 | exon_skip_456456 | 17764386 | 17765177 | 17764658 | 17764658 | Nonsense_Mutation | C | A | p.E1653* |
BLCA | TCGA-DK-AA6L-01 | exon_skip_456456 | 17764386 | 17765177 | 17765156 | 17765156 | Nonsense_Mutation | C | A | p.E1487* |
UCEC | TCGA-AX-A0J0-01 | 17796900 | 17797051 | 17797027 | 17797027 | Nonsense_Mutation | C | A | p.E939* | |
COAD | TCGA-CM-5861-01 | exon_skip_456490 | 17834192 | 17834302 | 17834191 | 17834191 | Splice_Site | C | T | . |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
CW2_LARGE_INTESTINE | 17772139 | 17772290 | 17772193 | 17772193 | Frame_Shift_Del | T | - | p.K1474fs |
TOV21G_OVARY | 17788007 | 17788106 | 17788023 | 17788023 | Frame_Shift_Del | T | - | p.K1115fs |
RKO_LARGE_INTESTINE | 17788007 | 17788106 | 17788022 | 17788023 | Frame_Shift_Ins | - | T | p.V1116fs |
EN_ENDOMETRIUM | 17788007 | 17788106 | 17788022 | 17788023 | Frame_Shift_Ins | - | T | p.V1116fs |
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17764386 | 17765177 | 17764420 | 17764420 | Missense_Mutation | G | A | p.P1780L |
LAMA84_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17764386 | 17765177 | 17764577 | 17764577 | Missense_Mutation | T | C | p.N1728D |
BB65EBV_MATCHED_NORMAL_TISSUE | 17764386 | 17765177 | 17764684 | 17764684 | Missense_Mutation | G | A | p.S1692L |
BB65RCC_KIDNEY | 17764386 | 17765177 | 17764684 | 17764684 | Missense_Mutation | G | A | p.S1692L |
DAOY_CENTRAL_NERVOUS_SYSTEM | 17764386 | 17765177 | 17764733 | 17764733 | Missense_Mutation | C | T | p.A1676T |
LS411N_LARGE_INTESTINE | 17764386 | 17765177 | 17764750 | 17764750 | Missense_Mutation | T | C | p.K1670R |
NCIH847_LUNG | 17764386 | 17765177 | 17764816 | 17764816 | Missense_Mutation | G | A | p.S1648L |
NCIH847_LUNG | 17764386 | 17765177 | 17764819 | 17764819 | Missense_Mutation | G | A | p.S1647F |
HEC151_ENDOMETRIUM | 17764386 | 17765177 | 17764823 | 17764823 | Missense_Mutation | G | A | p.P1646S |
COLO741_SKIN | 17764386 | 17765177 | 17764872 | 17764872 | Missense_Mutation | A | C | p.D1629E |
NCIH2342_LUNG | 17764386 | 17765177 | 17764874 | 17764874 | Missense_Mutation | C | G | p.D1629H |
SW684_SOFT_TISSUE | 17764386 | 17765177 | 17764936 | 17764936 | Missense_Mutation | G | A | p.T1608I |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17764386 | 17765177 | 17764997 | 17764997 | Missense_Mutation | G | A | p.R1588C |
HCC1937_BREAST | 17764386 | 17765177 | 17765077 | 17765077 | Missense_Mutation | T | C | p.N1561S |
HCC1937_MATCHED_NORMAL_TISSUE | 17764386 | 17765177 | 17765077 | 17765077 | Missense_Mutation | T | C | p.N1561S |
SF126_CENTRAL_NERVOUS_SYSTEM | 17764386 | 17765177 | 17765144 | 17765144 | Missense_Mutation | T | C | p.I1539V |
CALU3_LUNG | 17764386 | 17765177 | 17765171 | 17765171 | Missense_Mutation | C | G | p.E1530Q |
HEC59_ENDOMETRIUM | 17771345 | 17771449 | 17771360 | 17771360 | Missense_Mutation | T | A | p.K1522N |
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17771345 | 17771449 | 17771377 | 17771377 | Missense_Mutation | C | T | p.V1517I |
FTC238_THYROID | 17777508 | 17777585 | 17777536 | 17777536 | Missense_Mutation | C | A | p.R1381M |
SNGM_ENDOMETRIUM | 17779178 | 17779330 | 17779309 | 17779309 | Missense_Mutation | G | A | p.R1321W |
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17779178 | 17779330 | 17779317 | 17779317 | Missense_Mutation | A | C | p.I1318R |
DMS53_LUNG | 17779823 | 17779915 | 17779840 | 17779840 | Missense_Mutation | C | A | p.V1308L |
NCIH2052_PLEURA | 17779823 | 17779915 | 17779840 | 17779840 | Missense_Mutation | C | A | p.V1308L |
BT474_BREAST | 17788007 | 17788106 | 17788037 | 17788037 | Missense_Mutation | C | T | p.E1111K |
SW1573_LUNG | 17788007 | 17788106 | 17788078 | 17788078 | Missense_Mutation | C | A | p.R1097M |
TE1_OESOPHAGUS | 17790103 | 17790141 | 17790137 | 17790137 | Missense_Mutation | T | G | p.D1076A |
NCIH1618_LUNG | 17794480 | 17794626 | 17794614 | 17794614 | Missense_Mutation | T | C | p.R1030G |
RMUGS_OVARY | 17796900 | 17797051 | 17796913 | 17796913 | Missense_Mutation | T | A | p.T977S |
SYO1_SOFT_TISSUE | 17796900 | 17797051 | 17796972 | 17796972 | Missense_Mutation | C | T | p.R957Q |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17817251 | 17817464 | 17817254 | 17817254 | Missense_Mutation | T | A | p.E666V |
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17817251 | 17817464 | 17817308 | 17817308 | Missense_Mutation | C | T | p.R648H |
CALU1_LUNG | 17817251 | 17817464 | 17817335 | 17817335 | Missense_Mutation | C | G | p.R639T |
CAL120_BREAST | 17817251 | 17817464 | 17817357 | 17817357 | Missense_Mutation | G | A | p.R632C |
NCIH1703_LUNG | 17817251 | 17817464 | 17817423 | 17817423 | Missense_Mutation | G | C | p.L610V |
RCM1_LARGE_INTESTINE | 17817251 | 17817464 | 17817456 | 17817456 | Missense_Mutation | G | C | p.Q599E |
HCC1569_BREAST | 17837109 | 17837321 | 17837116 | 17837116 | Missense_Mutation | T | C | p.Q383R |
HEC59_ENDOMETRIUM | 17837109 | 17837321 | 17837167 | 17837167 | Missense_Mutation | A | G | p.V366A |
CCK81_LARGE_INTESTINE | 17837109 | 17837321 | 17837173 | 17837173 | Missense_Mutation | G | A | p.A364V |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17837109 | 17837321 | 17837181 | 17837181 | Missense_Mutation | G | C | p.D361E |
LS411N_LARGE_INTESTINE | 17837109 | 17837321 | 17837267 | 17837267 | Missense_Mutation | C | T | p.A333T |
SNU1040_LARGE_INTESTINE | 17837109 | 17837321 | 17837284 | 17837284 | Missense_Mutation | G | A | p.A327V |
HEC251_ENDOMETRIUM | 17764386 | 17765177 | 17764550 | 17764550 | Nonsense_Mutation | C | A | p.E1737* |
HCC15_LUNG | 17794480 | 17794626 | 17794528 | 17794528 | Nonsense_Mutation | A | T | p.C1058* |
SNU1040_LARGE_INTESTINE | 17808999 | 17809161 | 17809127 | 17809127 | Nonsense_Mutation | G | A | p.R679* |
SNU81_LARGE_INTESTINE | 17834192 | 17834302 | 17834245 | 17834245 | Nonsense_Mutation | C | A | p.E405* |
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17775246 | 17775293 | 17775247 | 17775247 | Splice_Site | T | G | p.K1406T |
CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17834192 | 17834302 | 17834192 | 17834192 | Splice_Site | C | A | p.Q422H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIF13A |
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_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | BRCA | rs4716190 | chr6:17834213 | T/C | 9.46e-07 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | BRCA | rs4716190 | chr6:17834213 | T/C | 4.01e-03 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | LGG | rs4716190 | chr6:17834213 | T/C | 2.82e-03 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | LUAD | rs4716190 | chr6:17834213 | T/C | 4.55e-04 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | LUSC | rs4716190 | chr6:17834213 | T/C | 6.95e-04 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | LUSC | rs4716189 | chr6:17834198 | T/G | 1.87e-03 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | LUSC | rs4716190 | chr6:17834213 | T/C | 1.92e-03 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | PRAD | rs4716190 | chr6:17834213 | T/C | 5.76e-06 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | PRAD | rs4716189 | chr6:17834198 | T/G | 1.49e-04 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | STAD | rs4716189 | chr6:17834198 | T/G | 7.98e-05 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | STAD | rs4716190 | chr6:17834213 | T/C | 2.01e-04 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | THCA | rs4716190 | chr6:17834213 | T/C | 6.07e-09 |
exon_skip_456490 | 6 | 17831331:17831466:17834191:17834302:17837108:17837321 | 17834191:17834302 | ENST00000378843.2,ENST00000378816.5,ENST00000378814.5,ENST00000259711.6,ENST00000378826.2 | THCA | rs4716189 | chr6:17834198 | T/G | 2.31e-05 |
exon_skip_456482 | 6 | 17790102:17790141:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378816.5,ENST00000358380.6,ENST00000259711.6,ENST00000378826.2 | GBM | rs3734234 | chr6:17794494 | G/A | 7.55e-05 |
exon_skip_456482 | 6 | 17790102:17790141:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378816.5,ENST00000358380.6,ENST00000259711.6,ENST00000378826.2 | LGG | rs3734234 | chr6:17794494 | G/A | 5.63e-05 |
exon_skip_456482 | 6 | 17790102:17790141:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378816.5,ENST00000358380.6,ENST00000259711.6,ENST00000378826.2 | KIRC | rs3734234 | chr6:17794494 | G/A | 1.00e-03 |
exon_skip_456482 | 6 | 17790102:17790141:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378816.5,ENST00000358380.6,ENST00000259711.6,ENST00000378826.2 | LUAD | rs3734234 | chr6:17794494 | G/A | 4.22e-04 |
exon_skip_456482 | 6 | 17790102:17790141:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378816.5,ENST00000358380.6,ENST00000259711.6,ENST00000378826.2 | LUAD | rs3734234 | chr6:17794494 | G/A | 5.59e-04 |
exon_skip_456482 | 6 | 17790102:17790141:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378816.5,ENST00000358380.6,ENST00000259711.6,ENST00000378826.2 | PRAD | rs3734234 | chr6:17794494 | G/A | 1.78e-06 |
exon_skip_456482 | 6 | 17790102:17790141:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378816.5,ENST00000358380.6,ENST00000259711.6,ENST00000378826.2 | SARC | rs3734234 | chr6:17794494 | G/A | 2.65e-05 |
exon_skip_456482 | 6 | 17790102:17790141:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378816.5,ENST00000358380.6,ENST00000259711.6,ENST00000378826.2 | STAD | rs3734234 | chr6:17794494 | G/A | 1.71e-03 |
exon_skip_456482 | 6 | 17790102:17790141:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378816.5,ENST00000358380.6,ENST00000259711.6,ENST00000378826.2 | THCA | rs3734234 | chr6:17794494 | G/A | 4.34e-10 |
exon_skip_456480 | 6 | 17788006:17788106:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378843.2,ENST00000502297.1,ENST00000514714.1,ENST00000378814.5 | GBM | rs3734234 | chr6:17794494 | G/A | 7.55e-05 |
exon_skip_456480 | 6 | 17788006:17788106:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378843.2,ENST00000502297.1,ENST00000514714.1,ENST00000378814.5 | LGG | rs3734234 | chr6:17794494 | G/A | 5.63e-05 |
exon_skip_456480 | 6 | 17788006:17788106:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378843.2,ENST00000502297.1,ENST00000514714.1,ENST00000378814.5 | KIRC | rs3734234 | chr6:17794494 | G/A | 1.00e-03 |
exon_skip_456480 | 6 | 17788006:17788106:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378843.2,ENST00000502297.1,ENST00000514714.1,ENST00000378814.5 | LUAD | rs3734234 | chr6:17794494 | G/A | 4.22e-04 |
exon_skip_456480 | 6 | 17788006:17788106:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378843.2,ENST00000502297.1,ENST00000514714.1,ENST00000378814.5 | LUAD | rs3734234 | chr6:17794494 | G/A | 5.59e-04 |
exon_skip_456480 | 6 | 17788006:17788106:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378843.2,ENST00000502297.1,ENST00000514714.1,ENST00000378814.5 | PRAD | rs3734234 | chr6:17794494 | G/A | 1.78e-06 |
exon_skip_456480 | 6 | 17788006:17788106:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378843.2,ENST00000502297.1,ENST00000514714.1,ENST00000378814.5 | SARC | rs3734234 | chr6:17794494 | G/A | 2.65e-05 |
exon_skip_456480 | 6 | 17788006:17788106:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378843.2,ENST00000502297.1,ENST00000514714.1,ENST00000378814.5 | STAD | rs3734234 | chr6:17794494 | G/A | 1.71e-03 |
exon_skip_456480 | 6 | 17788006:17788106:17794479:17794626:17794802:17794928 | 17794479:17794626 | ENST00000378843.2,ENST00000502297.1,ENST00000514714.1,ENST00000378814.5 | THCA | rs3734234 | chr6:17794494 | G/A | 4.34e-10 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIF13A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIF13A |
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RelatedDrugs for KIF13A |
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 KIF13A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |