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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 KIAA1217 |
 Gene summary |
| Gene information | Gene symbol | KIAA1217 | Gene ID | 56243 |
| Gene name | KIAA1217 | |
| Synonyms | ETL4|SKT | |
| Cytomap | 10p12.2-p12.1 | |
| Type of gene | protein-coding | |
| Description | sickle tail protein homologlikely orthologue of Mus musculus enhancer trap locus 4 | |
| Modification date | 20180519 | |
| UniProtAcc | Q5T5P2 | |
| Context | PubMed: KIAA1217 [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 KIAA1217 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 KIAA1217 |
| 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 KIAA1217 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_40114 | 10 | 24508554:24508838:24669797:24669996:24721923:24722122 | 24669797:24669996 | ENSG00000120549.11 | ENST00000376452.3,ENST00000376456.4,ENST00000376462.1,ENST00000376454.3,ENST00000458595.1 |
| exon_skip_40115 | 10 | 24528123:24528266:24669797:24669996:24721923:24722122 | 24669797:24669996 | ENSG00000120549.11 | ENST00000438429.1 |
| exon_skip_40116 | 10 | 24544256:24544525:24669797:24669996:24721923:24722122 | 24669797:24669996 | ENSG00000120549.11 | ENST00000430453.2 |
| exon_skip_40119 | 10 | 24762156:24762989:24783428:24783533:24784075:24784125 | 24783428:24783533 | ENSG00000120549.11 | ENST00000376462.1,ENST00000376454.3 |
| exon_skip_40121 | 10 | 24762156:24762989:24784075:24784125:24790307:24790474 | 24784075:24784125 | ENSG00000120549.11 | ENST00000376451.2,ENST00000438429.1,ENST00000396446.1,ENST00000307544.6,ENST00000376452.3,ENST00000376456.4,ENST00000458595.1,ENST00000430453.2,ENST00000396445.1 |
| exon_skip_40125 | 10 | 24784075:24784125:24790307:24790474:24802187:24802276 | 24790307:24790474 | ENSG00000120549.11 | ENST00000376451.2,ENST00000438429.1,ENST00000396446.1,ENST00000307544.6,ENST00000376452.3,ENST00000376456.4,ENST00000376462.1,ENST00000376454.3,ENST00000458595.1,ENST00000460373.1,ENST00000430453.2,ENST00000396445.1 |
| exon_skip_40126 | 10 | 24790307:24790474:24802187:24802363:24809051:24809182 | 24802187:24802363 | ENSG00000120549.11 | ENST00000376451.2,ENST00000438429.1,ENST00000396446.1,ENST00000307544.6,ENST00000376452.3,ENST00000376456.4,ENST00000376462.1,ENST00000376454.3,ENST00000458595.1,ENST00000396445.1 |
| exon_skip_40127 | 10 | 24813251:24813693:24816864:24817048:24820758:24820821 | 24816864:24817048 | ENSG00000120549.11 | ENST00000376451.2,ENST00000396446.1,ENST00000307544.6,ENST00000376462.1,ENST00000376454.3,ENST00000458595.1,ENST00000396445.1 |
| exon_skip_40128 | 10 | 24813251:24813693:24816864:24817048:24820761:24820922 | 24816864:24817048 | ENSG00000120549.11 | ENST00000376452.3 |
| exon_skip_40129 | 10 | 24821998:24822166:24825702:24825822:24831621:24831699 | 24825702:24825822 | ENSG00000120549.11 | ENST00000376451.2,ENST00000307544.6,ENST00000376452.3,ENST00000376454.3 |
| exon_skip_40131 | 10 | 24821998:24822166:24825702:24825822:24833909:24834032 | 24825702:24825822 | ENSG00000120549.11 | ENST00000458595.1,ENST00000396445.1 |
| exon_skip_40141 | 10 | 24825702:24825822:24831621:24831699:24831811:24832637 | 24831621:24831699 | ENSG00000120549.11 | ENST00000376451.2,ENST00000376454.3 |
| exon_skip_40143 | 10 | 24825702:24825822:24831621:24831699:24833909:24834032 | 24831621:24831699 | ENSG00000120549.11 | ENST00000307544.6,ENST00000376452.3 |
| exon_skip_40150 | 10 | 24825702:24825822:24833909:24834032:24834755:24836627 | 24833909:24834032 | ENSG00000120549.11 | ENST00000458595.1 |
| exon_skip_40154 | 10 | 24831621:24831699:24831811:24833410:24833909:24834032 | 24831811:24833410 | ENSG00000120549.11 | ENST00000376451.2,ENST00000376454.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KIAA1217 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_40114 | 10 | 24508554:24508838:24669797:24669996:24721923:24722122 | 24669797:24669996 | ENSG00000120549.11 | ENST00000376462.1,ENST00000376456.4,ENST00000458595.1,ENST00000376454.3,ENST00000376452.3 |
| exon_skip_40119 | 10 | 24762156:24762989:24783428:24783533:24784075:24784125 | 24783428:24783533 | ENSG00000120549.11 | ENST00000376462.1,ENST00000376454.3 |
| exon_skip_40121 | 10 | 24762156:24762989:24784075:24784125:24790307:24790474 | 24784075:24784125 | ENSG00000120549.11 | ENST00000376456.4,ENST00000458595.1,ENST00000376452.3,ENST00000438429.1,ENST00000430453.2,ENST00000307544.6,ENST00000396446.1,ENST00000396445.1,ENST00000376451.2 |
| exon_skip_40125 | 10 | 24784075:24784125:24790307:24790474:24802187:24802276 | 24790307:24790474 | ENSG00000120549.11 | ENST00000376462.1,ENST00000376456.4,ENST00000458595.1,ENST00000376454.3,ENST00000376452.3,ENST00000438429.1,ENST00000430453.2,ENST00000307544.6,ENST00000396446.1,ENST00000396445.1,ENST00000376451.2,ENST00000460373.1 |
| exon_skip_40126 | 10 | 24790307:24790474:24802187:24802363:24809051:24809182 | 24802187:24802363 | ENSG00000120549.11 | ENST00000376462.1,ENST00000376456.4,ENST00000458595.1,ENST00000376454.3,ENST00000376452.3,ENST00000438429.1,ENST00000307544.6,ENST00000396446.1,ENST00000396445.1,ENST00000376451.2 |
| exon_skip_40127 | 10 | 24813251:24813693:24816864:24817048:24820758:24820821 | 24816864:24817048 | ENSG00000120549.11 | ENST00000376462.1,ENST00000458595.1,ENST00000376454.3,ENST00000307544.6,ENST00000396446.1,ENST00000396445.1,ENST00000376451.2 |
| exon_skip_40128 | 10 | 24813251:24813693:24816864:24817048:24820761:24820922 | 24816864:24817048 | ENSG00000120549.11 | ENST00000376452.3 |
| exon_skip_40129 | 10 | 24821998:24822166:24825702:24825822:24831621:24831699 | 24825702:24825822 | ENSG00000120549.11 | ENST00000376454.3,ENST00000376452.3,ENST00000307544.6,ENST00000376451.2 |
| exon_skip_40131 | 10 | 24821998:24822166:24825702:24825822:24833909:24834032 | 24825702:24825822 | ENSG00000120549.11 | ENST00000458595.1,ENST00000396445.1 |
| exon_skip_40141 | 10 | 24825702:24825822:24831621:24831699:24831811:24832637 | 24831621:24831699 | ENSG00000120549.11 | ENST00000376454.3,ENST00000376451.2 |
| exon_skip_40143 | 10 | 24825702:24825822:24831621:24831699:24833909:24834032 | 24831621:24831699 | ENSG00000120549.11 | ENST00000376452.3,ENST00000307544.6 |
| exon_skip_40150 | 10 | 24825702:24825822:24833909:24834032:24834755:24836627 | 24833909:24834032 | ENSG00000120549.11 | ENST00000458595.1 |
| exon_skip_40154 | 10 | 24831621:24831699:24831811:24833410:24833909:24834032 | 24831811:24833410 | ENSG00000120549.11 | ENST00000376454.3,ENST00000376451.2 |
| 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 KIAA1217 |
| 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 |
| ENST00000376454 | 24669797 | 24669996 | Frame-shift |
| ENST00000376454 | 24790307 | 24790474 | Frame-shift |
| ENST00000376454 | 24802187 | 24802363 | Frame-shift |
| ENST00000376454 | 24816864 | 24817048 | Frame-shift |
| ENST00000376454 | 24783428 | 24783533 | In-frame |
| ENST00000376454 | 24825702 | 24825822 | In-frame |
| ENST00000376454 | 24831621 | 24831699 | In-frame |
| ENST00000376454 | 24831811 | 24833410 | 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 |
| ENST00000376454 | 24669797 | 24669996 | Frame-shift |
| ENST00000376454 | 24790307 | 24790474 | Frame-shift |
| ENST00000376454 | 24802187 | 24802363 | Frame-shift |
| ENST00000376454 | 24816864 | 24817048 | Frame-shift |
| ENST00000376454 | 24783428 | 24783533 | In-frame |
| ENST00000376454 | 24825702 | 24825822 | In-frame |
| ENST00000376454 | 24831621 | 24831699 | In-frame |
| ENST00000376454 | 24831811 | 24833410 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KIAA1217 |
| 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 |
| ENST00000376454 | 7398 | 1943 | 24783428 | 24783533 | 1710 | 1814 | 560 | 594 |
| ENST00000376454 | 7398 | 1943 | 24825702 | 24825822 | 3445 | 3564 | 1138 | 1178 |
| ENST00000376454 | 7398 | 1943 | 24831621 | 24831699 | 3565 | 3642 | 1178 | 1204 |
| ENST00000376454 | 7398 | 1943 | 24831811 | 24833410 | 3643 | 5241 | 1204 | 1737 |
| 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 |
| ENST00000376454 | 7398 | 1943 | 24783428 | 24783533 | 1710 | 1814 | 560 | 594 |
| ENST00000376454 | 7398 | 1943 | 24825702 | 24825822 | 3445 | 3564 | 1138 | 1178 |
| ENST00000376454 | 7398 | 1943 | 24831621 | 24831699 | 3565 | 3642 | 1178 | 1204 |
| ENST00000376454 | 7398 | 1943 | 24831811 | 24833410 | 3643 | 5241 | 1204 | 1737 |
| 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 KIAA1217 |
| - 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 |
| COAD | TCGA-AA-3713-01 | exon_skip_40116 exon_skip_40114 exon_skip_40115 | 24669798 | 24669996 | 24669902 | 24669902 | Frame_Shift_Del | G | - | p.E153fs |
| STAD | TCGA-BR-7707-01 | exon_skip_40116 exon_skip_40114 exon_skip_40115 | 24669798 | 24669996 | 24669902 | 24669902 | Frame_Shift_Del | G | - | p.E153fs |
| UCEC | TCGA-A5-A0GW-01 | exon_skip_40116 exon_skip_40114 exon_skip_40115 | 24669798 | 24669996 | 24669902 | 24669902 | Frame_Shift_Del | G | - | p.E153fs |
| STAD | TCGA-HJ-7597-01 | exon_skip_40116 exon_skip_40114 exon_skip_40115 | 24669798 | 24669996 | 24669980 | 24669983 | Frame_Shift_Del | GAAA | - | p.179_180del |
| STAD | TCGA-HJ-7597-01 | exon_skip_40116 exon_skip_40114 exon_skip_40115 | 24669798 | 24669996 | 24669980 | 24669983 | Frame_Shift_Del | GAAA | - | p.T179fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_40143 exon_skip_40141 | 24831622 | 24831699 | 24831665 | 24831665 | Frame_Shift_Del | A | - | p.E876fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_40143 exon_skip_40141 | 24831622 | 24831699 | 24831678 | 24831678 | Frame_Shift_Del | C | - | p.G880fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_40154 | 24831812 | 24833410 | 24831927 | 24831927 | Frame_Shift_Del | A | - | p.E926fs |
| LIHC | TCGA-UB-A7MF-01 | exon_skip_40154 | 24831812 | 24833410 | 24832181 | 24832187 | Frame_Shift_Del | TCAAGCG | - | p.1327_1329del |
| LIHC | TCGA-UB-A7MF-01 | exon_skip_40154 | 24831812 | 24833410 | 24832181 | 24832187 | Frame_Shift_Del | TCAAGCG | - | p.SSV1011fs |
| KIRP | TCGA-P4-A5E8-01 | exon_skip_40154 | 24831812 | 24833410 | 24832228 | 24832229 | Frame_Shift_Del | AG | - | p.1343_1343del |
| KIRP | TCGA-P4-A5E8-01 | exon_skip_40154 | 24831812 | 24833410 | 24832228 | 24832229 | Frame_Shift_Del | AG | - | p.T1343fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_40154 | 24831812 | 24833410 | 24832383 | 24832383 | Frame_Shift_Del | T | - | p.L1078fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_40154 | 24831812 | 24833410 | 24832391 | 24832391 | Frame_Shift_Del | G | - | p.G1081fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_40154 | 24831812 | 24833410 | 24832391 | 24832391 | Frame_Shift_Del | G | - | p.S1397fs |
| UCEC | TCGA-A5-A0G9-01 | exon_skip_40154 | 24831812 | 24833410 | 24832773 | 24832773 | Frame_Shift_Del | C | - | p.L1526fs |
| UCEC | TCGA-A5-A0G9-01 | exon_skip_40154 | 24831812 | 24833410 | 24832773 | 24832773 | Frame_Shift_Del | C | - | p.S1525fs |
| STAD | TCGA-CD-A4MI-01 | exon_skip_40154 | 24831812 | 24833410 | 24832910 | 24832910 | Frame_Shift_Del | A | - | p.K1570fs |
| LGG | TCGA-TQ-A7RS-01 | exon_skip_40154 | 24831812 | 24833410 | 24833288 | 24833289 | Frame_Shift_Del | AG | - | p.R1380fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_40154 | 24831812 | 24833410 | 24833333 | 24833333 | Frame_Shift_Del | C | - | p.P1395fs |
| STAD | TCGA-CG-4306-01 | exon_skip_40150 | 24833910 | 24834032 | 24833919 | 24833919 | Frame_Shift_Del | G | - | p.S1740fs |
| UCEC | TCGA-BS-A0WQ-01 | exon_skip_40116 exon_skip_40114 exon_skip_40115 | 24669798 | 24669996 | 24669809 | 24669810 | Frame_Shift_Ins | - | A | p.P122fs |
| HNSC | TCGA-CN-5361-01 | exon_skip_40143 exon_skip_40141 | 24831622 | 24831699 | 24831690 | 24831691 | Frame_Shift_Ins | - | T | p.P885fs |
| UCEC | TCGA-AP-A0LV-01 | exon_skip_40154 | 24831812 | 24833410 | 24832466 | 24832467 | Frame_Shift_Ins | - | C | p.T1423fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_40154 | 24831812 | 24833410 | 24832466 | 24832467 | Frame_Shift_Ins | - | C | p.T1423fs |
| STAD | TCGA-CD-8527-01 | exon_skip_40154 | 24831812 | 24833410 | 24832909 | 24832910 | Frame_Shift_Ins | - | A | p.K1570fs |
| STAD | TCGA-CG-5723-01 | exon_skip_40154 | 24831812 | 24833410 | 24832909 | 24832910 | Frame_Shift_Ins | - | A | p.K1570fs |
| STAD | TCGA-CD-8527-01 | exon_skip_40154 | 24831812 | 24833410 | 24832910 | 24832911 | Frame_Shift_Ins | - | A | p.K1570fs |
| STAD | TCGA-CG-5723-01 | exon_skip_40154 | 24831812 | 24833410 | 24832910 | 24832911 | Frame_Shift_Ins | - | A | p.K1570fs |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_40154 | 24831812 | 24833410 | 24833175 | 24833176 | Frame_Shift_Ins | - | A | p.R1659fs |
| SKCM | TCGA-D3-A51G-06 | exon_skip_40119 | 24783429 | 24783533 | 24783481 | 24783481 | Nonsense_Mutation | C | T | p.Q578* |
| SKCM | TCGA-D3-A51G-06 | exon_skip_40119 | 24783429 | 24783533 | 24783481 | 24783481 | Nonsense_Mutation | C | T | p.Q578X |
| HNSC | TCGA-BA-4076-01 | exon_skip_40126 | 24802188 | 24802363 | 24802317 | 24802317 | Nonsense_Mutation | A | T | p.R394* |
| HNSC | TCGA-BA-4076-01 | exon_skip_40126 | 24802188 | 24802363 | 24802317 | 24802317 | Nonsense_Mutation | A | T | p.R711* |
| UCEC | TCGA-AX-A1C7-01 | exon_skip_40126 | 24802188 | 24802363 | 24802317 | 24802317 | Nonsense_Mutation | A | T | p.R711* |
| SKCM | TCGA-EE-A29G-06 | exon_skip_40143 exon_skip_40141 | 24831622 | 24831699 | 24831694 | 24831694 | Nonsense_Mutation | C | T | p.Q886* |
| SKCM | TCGA-ER-A19D-06 | exon_skip_40154 | 24831812 | 24833410 | 24831852 | 24831852 | Nonsense_Mutation | G | A | p.W1218X |
| SKCM | TCGA-ER-A19D-06 | exon_skip_40154 | 24831812 | 24833410 | 24831852 | 24831852 | Nonsense_Mutation | G | A | p.W901* |
| PAAD | TCGA-IB-AAUO-01 | exon_skip_40154 | 24831812 | 24833410 | 24831899 | 24831899 | Nonsense_Mutation | G | T | p.E1234* |
| PAAD | TCGA-IB-AAUO-01 | exon_skip_40154 | 24831812 | 24833410 | 24831899 | 24831899 | Nonsense_Mutation | G | T | p.E1234X |
| PAAD | TCGA-IB-AAUO-01 | exon_skip_40154 | 24831812 | 24833410 | 24831899 | 24831899 | Nonsense_Mutation | G | T | p.E917* |
| STAD | TCGA-BR-8676-01 | exon_skip_40154 | 24831812 | 24833410 | 24832059 | 24832059 | Nonsense_Mutation | C | A | p.S1287* |
| STAD | TCGA-BR-8676-01 | exon_skip_40154 | 24831812 | 24833410 | 24832059 | 24832059 | Nonsense_Mutation | C | A | p.S1287X |
| PAAD | TCGA-IB-7651-01 | exon_skip_40154 | 24831812 | 24833410 | 24832433 | 24832433 | Nonsense_Mutation | C | T | p.Q1095* |
| PAAD | TCGA-IB-7651-01 | exon_skip_40154 | 24831812 | 24833410 | 24832433 | 24832433 | Nonsense_Mutation | C | T | p.Q1412* |
| PAAD | TCGA-IB-7651-01 | exon_skip_40154 | 24831812 | 24833410 | 24832433 | 24832433 | Nonsense_Mutation | C | T | p.Q1412X |
| LIHC | TCGA-HP-A5N0-01 | exon_skip_40154 | 24831812 | 24833410 | 24832874 | 24832874 | Nonsense_Mutation | G | T | p.E1242* |
| LGG | TCGA-IK-8125-01 | exon_skip_40154 | 24831812 | 24833410 | 24832988 | 24832988 | Nonsense_Mutation | A | T | p.K1280* |
| LGG | TCGA-IK-8125-01 | exon_skip_40154 | 24831812 | 24833410 | 24832988 | 24832988 | Nonsense_Mutation | A | T | p.K1597X |
| SARC | TCGA-QC-A7B5-01 | exon_skip_40154 | 24831812 | 24833410 | 24833274 | 24833274 | Nonsense_Mutation | C | A | p.S1692* |
| SKCM | TCGA-FS-A1ZW-06 | exon_skip_40116 exon_skip_40114 exon_skip_40115 | 24669798 | 24669996 | 24669797 | 24669797 | Splice_Site | G | A | . |
| ESCA | TCGA-L5-A8NJ-01 | exon_skip_40121 | 24784076 | 24784125 | 24784075 | 24784075 | Splice_Site | G | T | . |
| SKCM | TCGA-EE-A2MT-06 | exon_skip_40150 | 24833910 | 24834032 | 24833908 | 24833908 | Splice_Site | A | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EE-A29G-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_40141 | |
| Skipped exon start: 24831622 | |
| Skipped exon end: 24831699 | |
| Mutation start: 24831694 | |
| Mutation end: 24831694 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q886* | |
exon_skip_40143_SKCM_TCGA-EE-A29G-06.png | |
 | Sample: TCGA-CN-5361-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_40141 | |
| Skipped exon start: 24831622 | |
| Skipped exon end: 24831699 | |
| Mutation start: 24831690 | |
| Mutation end: 24831691 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.P885fs | |
exon_skip_40143_HNSC_TCGA-CN-5361-01.png | |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_40141 | |
| Skipped exon start: 24831622 | |
| Skipped exon end: 24831699 | |
| Mutation start: 24831678 | |
| Mutation end: 24831678 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.G880fs | |
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| - 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 |
| HEC265_ENDOMETRIUM | 24669798 | 24669996 | 24669920 | 24669920 | Frame_Shift_Del | T | - | p.P159fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 24783429 | 24783533 | 24783491 | 24783491 | Frame_Shift_Del | T | - | p.L581fs |
| OC316_OVARY | 24831622 | 24831699 | 24831631 | 24831631 | Frame_Shift_Del | T | - | p.F1183fs |
| OC314_OVARY | 24831622 | 24831699 | 24831631 | 24831631 | Frame_Shift_Del | T | - | p.F1183fs |
| CAL78_BONE | 24831812 | 24833410 | 24832364 | 24832364 | Frame_Shift_Del | G | - | p.E1389fs |
| IGROV1_OVARY | 24831812 | 24833410 | 24833103 | 24833103 | Frame_Shift_Del | A | - | p.E1635fs |
| SNUC5_LARGE_INTESTINE | 24831812 | 24833410 | 24833175 | 24833176 | Frame_Shift_Ins | - | A | p.RK1659fs |
| CW2_LARGE_INTESTINE | 24831812 | 24833410 | 24833175 | 24833176 | Frame_Shift_Ins | - | A | p.RK1659fs |
| OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24669798 | 24669996 | 24669924 | 24669924 | Missense_Mutation | T | C | p.S161P |
| SARC9371_BONE | 24669798 | 24669996 | 24669988 | 24669988 | Missense_Mutation | G | A | p.R182K |
| KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24790308 | 24790474 | 24790389 | 24790389 | Missense_Mutation | C | T | p.T639I |
| OVMANA_OVARY | 24790308 | 24790474 | 24790389 | 24790389 | Missense_Mutation | C | T | p.T639I |
| TUHR10TKB_KIDNEY | 24790308 | 24790474 | 24790389 | 24790389 | Missense_Mutation | C | T | p.T639I |
| TE5_OESOPHAGUS | 24790308 | 24790474 | 24790389 | 24790389 | Missense_Mutation | C | T | p.T639I |
| THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24790308 | 24790474 | 24790389 | 24790389 | Missense_Mutation | C | T | p.T639I |
| MFHINO_SOFT_TISSUE | 24790308 | 24790474 | 24790389 | 24790389 | Missense_Mutation | C | T | p.T639I |
| HEC6_ENDOMETRIUM | 24790308 | 24790474 | 24790463 | 24790463 | Missense_Mutation | C | T | p.R664W |
| NCIH841_LUNG | 24802188 | 24802363 | 24802230 | 24802230 | Missense_Mutation | G | A | p.E682K |
| NCIH650_LUNG | 24802188 | 24802363 | 24802255 | 24802255 | Missense_Mutation | T | A | p.M690K |
| D341MED_CENTRAL_NERVOUS_SYSTEM | 24802188 | 24802363 | 24802281 | 24802281 | Missense_Mutation | C | T | p.P699S |
| IGROV1_OVARY | 24802188 | 24802363 | 24802299 | 24802299 | Missense_Mutation | G | A | p.V705I |
| SW579_THYROID | 24802188 | 24802363 | 24802350 | 24802350 | Missense_Mutation | G | A | p.V722I |
| CGTHW1_THYROID | 24802188 | 24802363 | 24802350 | 24802350 | Missense_Mutation | G | A | p.V722I |
| TC71_BONE | 24816865 | 24817048 | 24816868 | 24816868 | Missense_Mutation | G | T | p.A968S |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24816865 | 24817048 | 24816922 | 24816922 | Missense_Mutation | G | A | p.E986K |
| NCIH1568_LUNG | 24816865 | 24817048 | 24816925 | 24816925 | Missense_Mutation | T | A | p.F987I |
| NB6_AUTONOMIC_GANGLIA | 24816865 | 24817048 | 24816973 | 24816973 | Missense_Mutation | C | A | p.P1003T |
| NCIH2085_LUNG | 24816865 | 24817048 | 24816980 | 24816980 | Missense_Mutation | T | G | p.L1005R |
| COLO792_SKIN | 24825703 | 24825822 | 24825737 | 24825737 | Missense_Mutation | C | T | p.S1150L |
| NCIH1568_LUNG | 24825703 | 24825822 | 24825766 | 24825766 | Missense_Mutation | G | T | p.D1160Y |
| JHUEM7_ENDOMETRIUM | 24825703 | 24825822 | 24825791 | 24825791 | Missense_Mutation | C | T | p.S1168L |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24831812 | 24833410 | 24831861 | 24831861 | Missense_Mutation | G | A | p.G1221E |
| OVTOKO_OVARY | 24831812 | 24833410 | 24831872 | 24831872 | Missense_Mutation | A | G | p.S1225G |
| MFHINO_SOFT_TISSUE | 24831812 | 24833410 | 24831911 | 24831911 | Missense_Mutation | G | A | p.E1238K |
| JHUEM7_ENDOMETRIUM | 24831812 | 24833410 | 24831928 | 24831928 | Missense_Mutation | A | C | p.E1243D |
| HCT15_LARGE_INTESTINE | 24831812 | 24833410 | 24831979 | 24831979 | Missense_Mutation | G | T | p.Q1260H |
| DU145_PROSTATE | 24831812 | 24833410 | 24832041 | 24832041 | Missense_Mutation | A | G | p.N1281S |
| SW48_LARGE_INTESTINE | 24831812 | 24833410 | 24832119 | 24832119 | Missense_Mutation | A | C | p.K1307T |
| SISO_CERVIX | 24831812 | 24833410 | 24832171 | 24832171 | Missense_Mutation | A | C | p.R1324S |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24831812 | 24833410 | 24832171 | 24832171 | Missense_Mutation | A | C | p.R1324S |
| LS180_LARGE_INTESTINE | 24831812 | 24833410 | 24832187 | 24832187 | Missense_Mutation | G | A | p.V1330M |
| HEC59_ENDOMETRIUM | 24831812 | 24833410 | 24832190 | 24832190 | Missense_Mutation | C | T | p.H1331Y |
| CCK81_LARGE_INTESTINE | 24831812 | 24833410 | 24832277 | 24832277 | Missense_Mutation | G | A | p.V1360M |
| YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24831812 | 24833410 | 24832304 | 24832304 | Missense_Mutation | A | C | p.S1369R |
| JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24831812 | 24833410 | 24832466 | 24832466 | Missense_Mutation | A | G | p.T1423A |
| EFM192A_BREAST | 24831812 | 24833410 | 24832475 | 24832475 | Missense_Mutation | C | A | p.Q1426K |
| TE617T_SOFT_TISSUE | 24831812 | 24833410 | 24832559 | 24832559 | Missense_Mutation | C | T | p.R1454W |
| MELJUSO_SKIN | 24831812 | 24833410 | 24832628 | 24832628 | Missense_Mutation | G | A | p.E1477K |
| SARC9371_BONE | 24831812 | 24833410 | 24832667 | 24832667 | Missense_Mutation | G | A | p.D1490N |
| SNU407_LARGE_INTESTINE | 24831812 | 24833410 | 24832809 | 24832809 | Missense_Mutation | A | G | p.E1537G |
| HEC251_ENDOMETRIUM | 24831812 | 24833410 | 24832813 | 24832813 | Missense_Mutation | G | T | p.M1538I |
| HT115_LARGE_INTESTINE | 24831812 | 24833410 | 24832860 | 24832860 | Missense_Mutation | C | T | p.S1554L |
| DV90_LUNG | 24831812 | 24833410 | 24832910 | 24832910 | Missense_Mutation | A | G | p.K1571E |
| LNZ308_CENTRAL_NERVOUS_SYSTEM | 24831812 | 24833410 | 24832971 | 24832971 | Missense_Mutation | C | G | p.T1591S |
| SKMEL5_SKIN | 24831812 | 24833410 | 24832985 | 24832985 | Missense_Mutation | G | A | p.G1596R |
| SNUC2A_LARGE_INTESTINE | 24831812 | 24833410 | 24833111 | 24833111 | Missense_Mutation | G | A | p.V1638M |
| SNU1040_LARGE_INTESTINE | 24831812 | 24833410 | 24833187 | 24833187 | Missense_Mutation | A | G | p.Y1663C |
| JHUEM7_ENDOMETRIUM | 24831812 | 24833410 | 24833228 | 24833228 | Missense_Mutation | G | A | p.E1677K |
| CW2_LARGE_INTESTINE | 24833910 | 24834032 | 24833963 | 24833963 | Missense_Mutation | G | T | p.K1755N |
| JHUEM1_ENDOMETRIUM | 24833910 | 24834032 | 24833992 | 24833992 | Missense_Mutation | G | A | p.G1765D |
| LCLC103H_LUNG | 24802188 | 24802363 | 24802307 | 24802308 | Nonsense_Mutation | GG | TT | p.E708* |
| LCLC103H_LUNG | 24802188 | 24802363 | 24802308 | 24802308 | Nonsense_Mutation | G | T | p.E708* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIAA1217 |
| 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_40125 | 10 | 24784075:24784125:24790307:24790474:24802187:24802276 | 24790307:24790474 | ENST00000376451.2,ENST00000438429.1,ENST00000396446.1,ENST00000307544.6,ENST00000376452.3,ENST00000376456.4,ENST00000376462.1,ENST00000376454.3,ENST00000458595.1,ENST00000460373.1,ENST00000430453.2,ENST00000396445.1 | LUSC | rs1112284 | chr10:24790393 | A/G | 3.19e-03 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIAA1217 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIAA1217 |
Top |
RelatedDrugs for KIAA1217 |
| 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 KIAA1217 |
| 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)
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