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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 KIF12 |
Gene summary |
| Gene information | Gene symbol | KIF12 | Gene ID | 113220 |
| Gene name | kinesin family member 12 | |
| Synonyms | - | |
| Cytomap | 9q32 | |
| Type of gene | protein-coding | |
| Description | kinesin-like protein KIF12 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96FN5 | |
| Context | PubMed: KIF12 [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 KIF12 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 KIF12 |
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 KIF12 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506149 | 9 | 116854821:116854922:116855030:116855184:116855508:116855613 | 116855030:116855184 | ENSG00000136883.8 | ENST00000468460.1 |
| exon_skip_506151 | 9 | 116854821:116854922:116855508:116855613:116855686:116855777 | 116855508:116855613 | ENSG00000136883.8 | ENST00000374118.3 |
| exon_skip_506154 | 9 | 116855585:116855613:116855686:116855777:116856165:116856197 | 116855686:116855777 | ENSG00000136883.8 | ENST00000473174.1,ENST00000374118.3,ENST00000468460.1 |
| exon_skip_506159 | 9 | 116856165:116856252:116856460:116856551:116856632:116856735 | 116856460:116856551 | ENSG00000136883.8 | ENST00000374118.3,ENST00000468460.1 |
| exon_skip_506162 | 9 | 116856632:116856735:116857302:116857407:116857493:116857612 | 116857302:116857407 | ENSG00000136883.8 | ENST00000473174.1,ENST00000374118.3,ENST00000468460.1 |
| exon_skip_506169 | 9 | 116857493:116857612:116858330:116858487:116858666:116858751 | 116858330:116858487 | ENSG00000136883.8 | ENST00000374118.3,ENST00000468460.1 |
| exon_skip_506175 | 9 | 116858666:116858758:116859580:116859716:116859886:116859996 | 116859580:116859716 | ENSG00000136883.8 | ENST00000374118.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KIF12 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506149 | 9 | 116854821:116854922:116855030:116855184:116855508:116855613 | 116855030:116855184 | ENSG00000136883.8 | ENST00000468460.1 |
| exon_skip_506151 | 9 | 116854821:116854922:116855508:116855613:116855686:116855777 | 116855508:116855613 | ENSG00000136883.8 | ENST00000374118.3 |
| exon_skip_506154 | 9 | 116855585:116855613:116855686:116855777:116856165:116856197 | 116855686:116855777 | ENSG00000136883.8 | ENST00000374118.3,ENST00000468460.1,ENST00000473174.1 |
| exon_skip_506159 | 9 | 116856165:116856252:116856460:116856551:116856632:116856735 | 116856460:116856551 | ENSG00000136883.8 | ENST00000374118.3,ENST00000468460.1 |
| exon_skip_506162 | 9 | 116856632:116856735:116857302:116857407:116857493:116857612 | 116857302:116857407 | ENSG00000136883.8 | ENST00000374118.3,ENST00000468460.1,ENST00000473174.1 |
| exon_skip_506169 | 9 | 116857493:116857612:116858330:116858487:116858666:116858751 | 116858330:116858487 | ENSG00000136883.8 | ENST00000374118.3,ENST00000468460.1 |
| exon_skip_506175 | 9 | 116858666:116858758:116859580:116859716:116859886:116859996 | 116859580:116859716 | ENSG00000136883.8 | ENST00000374118.3 |
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 KIF12 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for KIF12 |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
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Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for KIF12 |
- 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-DD-A39Y-01 | exon_skip_506151 | 116855509 | 116855613 | 116855535 | 116855535 | Frame_Shift_Del | G | - | p.L386fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_506154 | 116855687 | 116855777 | 116855694 | 116855694 | Frame_Shift_Del | G | - | p.P357fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_506162 | 116857303 | 116857407 | 116857320 | 116857320 | Frame_Shift_Del | G | - | p.R230fs |
| BLCA | TCGA-CF-A5UA-01 | exon_skip_506162 | 116857303 | 116857407 | 116857341 | 116857341 | Nonsense_Mutation | G | A | p.R223* |
- 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 |
| HEC59_ENDOMETRIUM | 116857303 | 116857407 | 116857306 | 116857306 | Frame_Shift_Del | G | - | p.P234fs |
| SNGM_ENDOMETRIUM | 116857303 | 116857407 | 116857389 | 116857390 | Frame_Shift_Ins | - | G | p.S207fs |
| UMUC6_URINARY_TRACT | 116855509 | 116855613 | 116855598 | 116855598 | Missense_Mutation | A | G | p.Y365H |
| SNUC2A_LARGE_INTESTINE | 116855687 | 116855777 | 116855707 | 116855707 | Missense_Mutation | C | T | p.A353T |
| SNUC2B_LARGE_INTESTINE | 116855687 | 116855777 | 116855707 | 116855707 | Missense_Mutation | C | T | p.A353T |
| KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 116855687 | 116855777 | 116855734 | 116855734 | Missense_Mutation | G | C | p.L344V |
| BHY_UPPER_AERODIGESTIVE_TRACT | 116855687 | 116855777 | 116855734 | 116855734 | Missense_Mutation | G | C | p.L344V |
| NCIH630_LARGE_INTESTINE | 116856461 | 116856551 | 116856513 | 116856513 | Missense_Mutation | G | A | p.R283W |
| BXPC3_PANCREAS | 116856461 | 116856551 | 116856525 | 116856525 | Missense_Mutation | C | T | p.A279T |
| C4I_CERVIX | 116856461 | 116856551 | 116856533 | 116856533 | Missense_Mutation | G | A | p.A276V |
| NCIH513_PLEURA | 116856461 | 116856551 | 116856548 | 116856548 | Missense_Mutation | G | A | p.S271L |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 116857303 | 116857407 | 116857332 | 116857332 | Missense_Mutation | G | A | p.R226W |
| NCIH1105_LUNG | 116857303 | 116857407 | 116857332 | 116857332 | Missense_Mutation | G | A | p.R226W |
| SW480_LARGE_INTESTINE | 116857303 | 116857407 | 116857356 | 116857356 | Missense_Mutation | G | C | p.L218V |
| SW620_LARGE_INTESTINE | 116857303 | 116857407 | 116857356 | 116857356 | Missense_Mutation | G | C | p.L218V |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 116857303 | 116857407 | 116857398 | 116857398 | Missense_Mutation | C | T | p.V204M |
| KM12_LARGE_INTESTINE | 116858331 | 116858487 | 116858348 | 116858348 | Missense_Mutation | C | T | p.R155Q |
| CW2_LARGE_INTESTINE | 116858331 | 116858487 | 116858423 | 116858423 | Missense_Mutation | T | C | p.D130G |
| CAL51_BREAST | 116859581 | 116859716 | 116859604 | 116859604 | Missense_Mutation | G | A | p.A70V |
| HT115_LARGE_INTESTINE | 116857303 | 116857407 | 116857353 | 116857353 | Nonsense_Mutation | G | A | p.R219* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIF12 |
sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIF12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIF12 |
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RelatedDrugs for KIF12 |
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 KIF12 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |