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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 KIF3A |
 Gene summary |
| Gene information | Gene symbol | KIF3A | Gene ID | 11127 |
| Gene name | kinesin family member 3A | |
| Synonyms | FLA10|KLP-20 | |
| Cytomap | 5q31.1 | |
| Type of gene | protein-coding | |
| Description | kinesin-like protein KIF3Akinesin family protein 3Amicrotubule plus end-directed kinesin motor 3A | |
| Modification date | 20180527 | |
| UniProtAcc | Q9Y496 | |
| Context | PubMed: KIF3A [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 KIF3A 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 KIF3A |
| 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 KIF3A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443920 | 5 | 132034862:132034987:132035907:132035976:132036338:132036392 | 132035907:132035976 | ENSG00000131437.11 | ENST00000403231.1,ENST00000378746.4,ENST00000450441.1,ENST00000378735.1 |
| exon_skip_443921 | 5 | 132036338:132036392:132037778:132037904:132038249:132038356 | 132037778:132037904 | ENSG00000131437.11 | ENST00000403231.1,ENST00000378746.4,ENST00000487055.1,ENST00000378735.1 |
| exon_skip_443922 | 5 | 132039154:132039311:132042142:132042151:132044598:132044670 | 132042142:132042151 | ENSG00000131437.11 | ENST00000403231.1 |
| exon_skip_443923 | 5 | 132039154:132039311:132042142:132042151:132046650:132046743 | 132042142:132042151 | ENSG00000131437.11 | ENST00000378735.1 |
| exon_skip_443927 | 5 | 132039154:132039311:132046650:132046749:132051448:132051623 | 132046650:132046749 | ENSG00000131437.11 | ENST00000378746.4 |
| exon_skip_443928 | 5 | 132042142:132042151:132044598:132044670:132046650:132046743 | 132044598:132044670 | ENSG00000131437.11 | ENST00000403231.1 |
| exon_skip_443929 | 5 | 132062045:132062190:132069896:132070170:132073105:132073111 | 132069896:132070170 | ENSG00000131437.11 | ENST00000403231.1,ENST00000378735.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KIF3A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443920 | 5 | 132034862:132034987:132035907:132035976:132036338:132036392 | 132035907:132035976 | ENSG00000131437.11 | ENST00000378746.4,ENST00000378735.1,ENST00000450441.1,ENST00000403231.1 |
| exon_skip_443921 | 5 | 132036338:132036392:132037778:132037904:132038249:132038356 | 132037778:132037904 | ENSG00000131437.11 | ENST00000378746.4,ENST00000378735.1,ENST00000403231.1,ENST00000487055.1 |
| exon_skip_443922 | 5 | 132039154:132039311:132042142:132042151:132044598:132044670 | 132042142:132042151 | ENSG00000131437.11 | ENST00000403231.1 |
| exon_skip_443923 | 5 | 132039154:132039311:132042142:132042151:132046650:132046743 | 132042142:132042151 | ENSG00000131437.11 | ENST00000378735.1 |
| exon_skip_443927 | 5 | 132039154:132039311:132046650:132046749:132051448:132051623 | 132046650:132046749 | ENSG00000131437.11 | ENST00000378746.4 |
| exon_skip_443928 | 5 | 132042142:132042151:132044598:132044670:132046650:132046743 | 132044598:132044670 | ENSG00000131437.11 | ENST00000403231.1 |
| exon_skip_443929 | 5 | 132062045:132062190:132069896:132070170:132073105:132073111 | 132069896:132070170 | ENSG00000131437.11 | ENST00000378735.1,ENST00000403231.1 |
| 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 KIF3A |
| 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 |
| ENST00000378746 | 132035907 | 132035976 | In-frame |
| ENST00000378746 | 132037778 | 132037904 | In-frame |
| ENST00000378746 | 132046650 | 132046749 | 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 |
| ENST00000378746 | 132035907 | 132035976 | In-frame |
| ENST00000378746 | 132037778 | 132037904 | In-frame |
| ENST00000378746 | 132046650 | 132046749 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KIF3A |
| 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 |
| ENST00000378746 | 6342 | 699 | 132046650 | 132046749 | 1349 | 1447 | 376 | 409 |
| ENST00000378746 | 6342 | 699 | 132037778 | 132037904 | 1897 | 2022 | 559 | 601 |
| ENST00000378746 | 6342 | 699 | 132035907 | 132035976 | 2077 | 2145 | 619 | 642 |
| 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 |
| ENST00000378746 | 6342 | 699 | 132046650 | 132046749 | 1349 | 1447 | 376 | 409 |
| ENST00000378746 | 6342 | 699 | 132037778 | 132037904 | 1897 | 2022 | 559 | 601 |
| ENST00000378746 | 6342 | 699 | 132035907 | 132035976 | 2077 | 2145 | 619 | 642 |
| 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 |
| Q9Y496 | 376 | 409 | 1 | 699 | Chain | ID=PRO_0000125393;Note=Kinesin-like protein KIF3A |
| Q9Y496 | 376 | 409 | 355 | 590 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y496 | 376 | 409 | 409 | 409 | Sequence conflict | Note=R->RDQA;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y496 | 376 | 409 | 409 | 409 | Sequence conflict | Note=R->RDQT;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y496 | 376 | 409 | 409 | 409 | Sequence conflict | Note=R->RIQI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y496 | 559 | 601 | 1 | 699 | Chain | ID=PRO_0000125393;Note=Kinesin-like protein KIF3A |
| Q9Y496 | 559 | 601 | 355 | 590 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y496 | 619 | 642 | 1 | 699 | Chain | ID=PRO_0000125393;Note=Kinesin-like protein KIF3A |
| 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 |
| Q9Y496 | 376 | 409 | 1 | 699 | Chain | ID=PRO_0000125393;Note=Kinesin-like protein KIF3A |
| Q9Y496 | 376 | 409 | 355 | 590 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y496 | 376 | 409 | 409 | 409 | Sequence conflict | Note=R->RDQA;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y496 | 376 | 409 | 409 | 409 | Sequence conflict | Note=R->RDQT;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y496 | 376 | 409 | 409 | 409 | Sequence conflict | Note=R->RIQI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y496 | 559 | 601 | 1 | 699 | Chain | ID=PRO_0000125393;Note=Kinesin-like protein KIF3A |
| Q9Y496 | 559 | 601 | 355 | 590 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y496 | 619 | 642 | 1 | 699 | Chain | ID=PRO_0000125393;Note=Kinesin-like protein KIF3A |
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SNVs in the skipped exons for KIF3A |
| - 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. |
| - 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_443927 | 132046651 | 132046749 | 132046657 | 132046657 | Frame_Shift_Del | T | - | p.R409fs |
| KIRC | TCGA-BP-4162-01 | exon_skip_443929 | 132069897 | 132070170 | 132070046 | 132070062 | Frame_Shift_Del | CCCCTCATCTCATCCAC | - | p.39_44del |
| UCEC | TCGA-B5-A0K1-01 | exon_skip_443927 | 132046651 | 132046749 | 132046656 | 132046657 | Frame_Shift_Ins | - | T | p.R408fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_443929 | 132069897 | 132070170 | 132069982 | 132069983 | Frame_Shift_Ins | - | G | p.T65fs |
| COAD | TCGA-AZ-4315-01 | exon_skip_443929 | 132069897 | 132070170 | 132070011 | 132070011 | Nonsense_Mutation | C | A | p.E56X |
| CHOL | TCGA-ZH-A8Y4-01 | exon_skip_443929 | 132069897 | 132070170 | 132070088 | 132070088 | Nonsense_Mutation | G | T | p.S30X |
| - 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 |
| BFTC905_URINARY_TRACT | 132046651 | 132046749 | 132046656 | 132046657 | Frame_Shift_Ins | - | T | p.R408fs |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 132037779 | 132037904 | 132037813 | 132037813 | Missense_Mutation | A | G | p.L590P |
| SNU81_LARGE_INTESTINE | 132037779 | 132037904 | 132037825 | 132037825 | Missense_Mutation | C | T | p.R586Q |
| SNUC5_LARGE_INTESTINE | 132037779 | 132037904 | 132037846 | 132037846 | Missense_Mutation | C | A | p.R579L |
| NUGC3_STOMACH | 132046651 | 132046749 | 132046722 | 132046722 | Missense_Mutation | C | G | p.S386T |
| RERFLCAD1_LUNG | 132069897 | 132070170 | 132069954 | 132069954 | Missense_Mutation | C | G | p.D75H |
| NCIH2066_LUNG | 132046651 | 132046749 | 132046749 | 132046749 | Splice_Site | C | A | p.G377V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIF3A |
| 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_443923 | 5 | 132039154:132039311:132042142:132042151:132046650:132046743 | 132042142:132042151 | ENST00000378735.1 | LGG | rs3798130 | chr5:132042146 | C/T | 2.65e-10 |
| exon_skip_443923 | 5 | 132039154:132039311:132042142:132042151:132046650:132046743 | 132042142:132042151 | ENST00000378735.1 | PCPG | rs3798130 | chr5:132042146 | C/T | 6.82e-04 |
| exon_skip_443922 | 5 | 132039154:132039311:132042142:132042151:132044598:132044670 | 132042142:132042151 | ENST00000403231.1 | LGG | rs3798130 | chr5:132042146 | C/T | 2.65e-10 |
| exon_skip_443922 | 5 | 132039154:132039311:132042142:132042151:132044598:132044670 | 132042142:132042151 | ENST00000403231.1 | PCPG | rs3798130 | chr5:132042146 | C/T | 6.82e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIF3A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIF3A |
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RelatedDrugs for KIF3A |
| 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 KIF3A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| KIF3A | C0004096 | Asthma | 1 | CTD_human |
| KIF3A | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| KIF3A | C0152427 | Polydactyly | 1 | CTD_human |
| KIF3A | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
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