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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 KIAA0586 |
 Gene summary |
| Gene information | Gene symbol | KIAA0586 | Gene ID | 9786 |
| Gene name | KIAA0586 | |
| Synonyms | JBTS23|SRTD14|Talpid3 | |
| Cytomap | 14q23.1 | |
| Type of gene | protein-coding | |
| Description | protein TALPID3 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BVV6 | |
| Context | PubMed: KIAA0586 [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 KIAA0586 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 KIAA0586 |
| 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 KIAA0586 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106959 | 14 | 58894119:58894355:58894989:58895181:58896080:58896151 | 58894989:58895181 | ENSG00000100578.10 | ENST00000556134.1 |
| exon_skip_106960 | 14 | 58899105:58899175:58899829:58900062:58907938:58907998 | 58899829:58900062 | ENSG00000100578.10 | ENST00000557192.1 |
| exon_skip_106963 | 14 | 58899105:58899175:58906787:58906878:58909423:58909598 | 58906787:58906878 | ENSG00000100578.10 | ENST00000555203.1 |
| exon_skip_106964 | 14 | 58899105:58899175:58907938:58908061:58909423:58909598 | 58907938:58908061 | ENSG00000100578.10 | ENST00000423743.3,ENST00000354386.6 |
| exon_skip_106966 | 14 | 58910671:58910893:58915057:58915211:58917296:58917464 | 58915057:58915211 | ENSG00000100578.10 | ENST00000556134.1,ENST00000538571.2,ENST00000261244.5,ENST00000423743.3,ENST00000354386.6 |
| exon_skip_106968 | 14 | 58925190:58925263:58926560:58926788:58927703:58927878 | 58926560:58926788 | ENSG00000100578.10 | ENST00000556134.1,ENST00000538571.2,ENST00000423743.3,ENST00000354386.6 |
| exon_skip_106969 | 14 | 58937330:58937441:58938916:58938997:58941324:58941515 | 58938916:58938997 | ENSG00000100578.10 | ENST00000556134.1,ENST00000538571.2,ENST00000261244.5,ENST00000423743.3,ENST00000354386.6 |
| exon_skip_106970 | 14 | 58941324:58941515:58943840:58943959:58949230:58949430 | 58943840:58943959 | ENSG00000100578.10 | ENST00000556134.1,ENST00000538571.2,ENST00000261244.5,ENST00000423743.3,ENST00000354386.6 |
| exon_skip_106972 | 14 | 58956922:58956958:58958861:58958993:58965500:58965678 | 58958861:58958993 | ENSG00000100578.10 | ENST00000556134.1,ENST00000538571.2,ENST00000261244.5,ENST00000423743.3,ENST00000354386.6 |
| exon_skip_106974 | 14 | 58956922:58956958:58965500:58965678:58975272:58975427 | 58965500:58965678 | ENSG00000100578.10 | ENST00000555397.1 |
| exon_skip_106976 | 14 | 58958861:58958993:58965500:58965678:58975272:58975427 | 58965500:58965678 | ENSG00000100578.10 | ENST00000556134.1,ENST00000538571.2,ENST00000261244.5,ENST00000423743.3,ENST00000354386.6 |
| exon_skip_106980 | 14 | 58965500:58965678:58975272:58975427:58979239:58979345 | 58975272:58975427 | ENSG00000100578.10 | ENST00000556134.1,ENST00000538571.2,ENST00000261244.5,ENST00000423743.3,ENST00000555397.1,ENST00000354386.6 |
| exon_skip_106986 | 14 | 58975288:58975427:58979239:58979345:59006788:59006854 | 58979239:58979345 | ENSG00000100578.10 | ENST00000556134.1,ENST00000261244.5,ENST00000423743.3,ENST00000354386.6 |
| exon_skip_106987 | 14 | 58975288:58975427:58979239:58979345:59014498:59014741 | 58979239:58979345 | ENSG00000100578.10 | ENST00000555397.1 |
| exon_skip_106989 | 14 | 58979239:58979345:59006788:59006854:59010600:59010685 | 59006788:59006854 | ENSG00000100578.10 | ENST00000354386.6 |
| exon_skip_106990 | 14 | 58979239:58979345:59006788:59006854:59014498:59014741 | 59006788:59006854 | ENSG00000100578.10 | ENST00000556134.1,ENST00000261244.5,ENST00000423743.3 |
| exon_skip_106993 | 14 | 59006788:59006854:59010600:59010685:59014498:59014741 | 59010600:59010685 | ENSG00000100578.10 | ENST00000354386.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KIAA0586 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106959 | 14 | 58894119:58894355:58894989:58895181:58896080:58896151 | 58894989:58895181 | ENSG00000100578.10 | ENST00000556134.1 |
| exon_skip_106960 | 14 | 58899105:58899175:58899829:58900062:58907938:58907998 | 58899829:58900062 | ENSG00000100578.10 | ENST00000557192.1 |
| exon_skip_106963 | 14 | 58899105:58899175:58906787:58906878:58909423:58909598 | 58906787:58906878 | ENSG00000100578.10 | ENST00000555203.1 |
| exon_skip_106964 | 14 | 58899105:58899175:58907938:58908061:58909423:58909598 | 58907938:58908061 | ENSG00000100578.10 | ENST00000354386.6,ENST00000423743.3 |
| exon_skip_106966 | 14 | 58910671:58910893:58915057:58915211:58917296:58917464 | 58915057:58915211 | ENSG00000100578.10 | ENST00000354386.6,ENST00000556134.1,ENST00000423743.3,ENST00000261244.5,ENST00000538571.2 |
| exon_skip_106968 | 14 | 58925190:58925263:58926560:58926788:58927703:58927878 | 58926560:58926788 | ENSG00000100578.10 | ENST00000354386.6,ENST00000556134.1,ENST00000423743.3,ENST00000538571.2 |
| exon_skip_106969 | 14 | 58937330:58937441:58938916:58938997:58941324:58941515 | 58938916:58938997 | ENSG00000100578.10 | ENST00000354386.6,ENST00000556134.1,ENST00000423743.3,ENST00000261244.5,ENST00000538571.2 |
| exon_skip_106970 | 14 | 58941324:58941515:58943840:58943959:58949230:58949430 | 58943840:58943959 | ENSG00000100578.10 | ENST00000354386.6,ENST00000556134.1,ENST00000423743.3,ENST00000261244.5,ENST00000538571.2 |
| exon_skip_106972 | 14 | 58956922:58956958:58958861:58958993:58965500:58965678 | 58958861:58958993 | ENSG00000100578.10 | ENST00000354386.6,ENST00000556134.1,ENST00000423743.3,ENST00000261244.5,ENST00000538571.2 |
| exon_skip_106974 | 14 | 58956922:58956958:58965500:58965678:58975272:58975427 | 58965500:58965678 | ENSG00000100578.10 | ENST00000555397.1 |
| exon_skip_106976 | 14 | 58958861:58958993:58965500:58965678:58975272:58975427 | 58965500:58965678 | ENSG00000100578.10 | ENST00000354386.6,ENST00000556134.1,ENST00000423743.3,ENST00000261244.5,ENST00000538571.2 |
| exon_skip_106980 | 14 | 58965500:58965678:58975272:58975427:58979239:58979345 | 58975272:58975427 | ENSG00000100578.10 | ENST00000354386.6,ENST00000556134.1,ENST00000423743.3,ENST00000261244.5,ENST00000538571.2,ENST00000555397.1 |
| exon_skip_106986 | 14 | 58975288:58975427:58979239:58979345:59006788:59006854 | 58979239:58979345 | ENSG00000100578.10 | ENST00000354386.6,ENST00000556134.1,ENST00000423743.3,ENST00000261244.5 |
| exon_skip_106987 | 14 | 58975288:58975427:58979239:58979345:59014498:59014741 | 58979239:58979345 | ENSG00000100578.10 | ENST00000555397.1 |
| exon_skip_106989 | 14 | 58979239:58979345:59006788:59006854:59010600:59010685 | 59006788:59006854 | ENSG00000100578.10 | ENST00000354386.6 |
| exon_skip_106990 | 14 | 58979239:58979345:59006788:59006854:59014498:59014741 | 59006788:59006854 | ENSG00000100578.10 | ENST00000556134.1,ENST00000423743.3,ENST00000261244.5 |
| exon_skip_106993 | 14 | 59006788:59006854:59010600:59010685:59014498:59014741 | 59010600:59010685 | ENSG00000100578.10 | ENST00000354386.6 |
| 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 KIAA0586 |
| 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 KIAA0586 |
| 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 KIAA0586 |
| - 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-DD-A3A0-01 | exon_skip_106959 | 58894990 | 58895181 | 58895013 | 58895013 | Frame_Shift_Del | A | - | p.K25fs |
| STAD | TCGA-BR-4184-01 | exon_skip_106959 | 58894990 | 58895181 | 58895013 | 58895013 | Frame_Shift_Del | A | - | p.K22fs |
| STAD | TCGA-CD-8536-01 | exon_skip_106959 | 58894990 | 58895181 | 58895013 | 58895013 | Frame_Shift_Del | A | - | p.K22fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_106959 | 58894990 | 58895181 | 58895062 | 58895062 | Frame_Shift_Del | A | - | p.Q39fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_106969 | 58938917 | 58938997 | 58938978 | 58938978 | Frame_Shift_Del | A | - | p.E828fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_106972 | 58958862 | 58958993 | 58958883 | 58958883 | Frame_Shift_Del | G | - | p.G1250fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_106972 | 58958862 | 58958993 | 58958907 | 58958907 | Frame_Shift_Del | A | - | p.K1259fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_106972 | 58958862 | 58958993 | 58958936 | 58958936 | Frame_Shift_Del | T | - | p.S1267fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_106974 exon_skip_106976 | 58965501 | 58965678 | 58965626 | 58965626 | Frame_Shift_Del | G | - | p.L1328fs |
| LIHC | TCGA-DD-AACQ-01 | exon_skip_106974 exon_skip_106976 | 58965501 | 58965678 | 58965630 | 58965631 | Frame_Shift_Del | CA | - | p.1426_1427del |
| BLCA | TCGA-DK-AA77-01 | exon_skip_106989 exon_skip_106990 | 59006789 | 59006854 | 59006827 | 59006827 | Frame_Shift_Del | A | - | p.N1446fs |
| UCEC | TCGA-B5-A0JR-01 | exon_skip_106959 | 58894990 | 58895181 | 58895012 | 58895013 | Frame_Shift_Ins | - | A | p.K22fs |
| KIRP | TCGA-SX-A71U-01 | exon_skip_106974 exon_skip_106976 | 58965501 | 58965678 | 58965662 | 58965663 | Frame_Shift_Ins | - | T | p.Q1437fs |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_106980 | 58975273 | 58975427 | 58975383 | 58975383 | Nonsense_Mutation | G | T | p.E1351* |
| UCEC | TCGA-AP-A0LE-01 | exon_skip_106969 | 58938917 | 58938997 | 58938915 | 58938915 | Splice_Site | A | G | e17-2 |
| UCEC | TCGA-AP-A0LE-01 | exon_skip_106969 | 58938917 | 58938997 | 58938915 | 58938915 | Splice_Site | A | G | p.T905_splice |
| ESCA | TCGA-IG-A4P3-01 | exon_skip_106986 exon_skip_106987 | 58979240 | 58979345 | 58979346 | 58979346 | Splice_Site | G | T | e29+1 |
| - 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 |
| SNU1079_BILIARY_TRACT | 58894990 | 58895181 | 58895047 | 58895047 | Missense_Mutation | G | A | p.R7H |
| KYSE140_OESOPHAGUS | 58894990 | 58895181 | 58895066 | 58895066 | Missense_Mutation | T | G | p.N13K |
| HUH7_LIVER | 58894990 | 58895181 | 58895116 | 58895116 | Missense_Mutation | C | T | p.P30L |
| HCC827GR5_LUNG | 58894990 | 58895181 | 58895149 | 58895149 | Missense_Mutation | G | C | p.G41A |
| MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58915058 | 58915211 | 58915065 | 58915065 | Missense_Mutation | T | G | p.F257C |
| AU565_BREAST | 58915058 | 58915211 | 58915107 | 58915107 | Missense_Mutation | G | C | p.S271T |
| HEC251_ENDOMETRIUM | 58926561 | 58926788 | 58926645 | 58926645 | Missense_Mutation | G | T | p.D566Y |
| UMUC14_URINARY_TRACT | 58926561 | 58926788 | 58926648 | 58926648 | Missense_Mutation | A | T | p.I567F |
| BFTC905_URINARY_TRACT | 58938917 | 58938997 | 58938920 | 58938920 | Missense_Mutation | C | A | p.P838T |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58938917 | 58938997 | 58938985 | 58938985 | Missense_Mutation | C | G | p.I859M |
| HCC2998_LARGE_INTESTINE | 58958862 | 58958993 | 58958912 | 58958912 | Missense_Mutation | A | T | p.K1288N |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58965501 | 58965678 | 58965511 | 58965511 | Missense_Mutation | A | G | p.N1319S |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58965501 | 58965678 | 58965543 | 58965543 | Missense_Mutation | C | T | p.P1330S |
| RL952_ENDOMETRIUM | 58965501 | 58965678 | 58965603 | 58965603 | Missense_Mutation | C | A | p.P1350T |
| HCC2998_LARGE_INTESTINE | 58965501 | 58965678 | 58965635 | 58965635 | Missense_Mutation | A | C | p.Q1360H |
| MFHINO_SOFT_TISSUE | 58975273 | 58975427 | 58975302 | 58975302 | Missense_Mutation | C | G | p.H1385D |
| MSTO211H_PLEURA | 58975273 | 58975427 | 58975305 | 58975305 | Missense_Mutation | G | A | p.G1386S |
| MCF7_BREAST | 58975273 | 58975427 | 58975368 | 58975368 | Missense_Mutation | C | A | p.L1407I |
| KPL1_BREAST | 58975273 | 58975427 | 58975368 | 58975368 | Missense_Mutation | C | A | p.L1407I |
| AN3CA_ENDOMETRIUM | 58975273 | 58975427 | 58975377 | 58975377 | Missense_Mutation | G | A | p.A1410T |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 58979240 | 58979345 | 58979291 | 58979291 | Missense_Mutation | C | A | p.Q1444K |
| LS411N_LARGE_INTESTINE | 59006789 | 59006854 | 59006810 | 59006810 | Missense_Mutation | G | A | p.R1469Q |
| CORL32_LUNG | 58894990 | 58895181 | 58895097 | 58895097 | Nonsense_Mutation | G | T | p.E24* |
| UMUC16_URINARY_TRACT | 58926561 | 58926788 | 58926561 | 58926561 | Splice_Site | G | C | p.D538H |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58975273 | 58975427 | 58975274 | 58975274 | Splice_Site | T | C | p.G1375G |
| MEWO_SKIN | 58979240 | 58979345 | 58979345 | 58979345 | Splice_Site | G | A | p.V1462I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIAA0586 |
| 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_106993 | 14 | 59006788:59006854:59010600:59010685:59014498:59014741 | 59010600:59010685 | ENST00000354386.6 | KICH | rs28535751 | chr14:59010649 | T/C | 2.03e-04 |
| exon_skip_106993 | 14 | 59006788:59006854:59010600:59010685:59014498:59014741 | 59010600:59010685 | ENST00000354386.6 | MESO | rs28535751 | chr14:59010649 | T/C | 1.02e-12 |
| exon_skip_106993 | 14 | 59006788:59006854:59010600:59010685:59014498:59014741 | 59010600:59010685 | ENST00000354386.6 | PAAD | rs28535751 | chr14:59010649 | T/C | 3.08e-16 |
| exon_skip_106993 | 14 | 59006788:59006854:59010600:59010685:59014498:59014741 | 59010600:59010685 | ENST00000354386.6 | STAD | rs28535751 | chr14:59010649 | T/C | 1.35e-18 |
| exon_skip_106993 | 14 | 59006788:59006854:59010600:59010685:59014498:59014741 | 59010600:59010685 | ENST00000354386.6 | UCEC | rs28535751 | chr14:59010649 | T/C | 2.16e-12 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIAA0586 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIAA0586 |
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RelatedDrugs for KIAA0586 |
| 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 KIAA0586 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| KIAA0586 | C0152427 | Polydactyly | 1 | CTD_human |
| KIAA0586 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| KIAA0586 | C4084822 | JOUBERT SYNDROME 23 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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