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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 CEP350 |
 Gene summary |
| Gene information | Gene symbol | CEP350 | Gene ID | 9857 |
| Gene name | centrosomal protein 350 | |
| Synonyms | CAP350|GM133 | |
| Cytomap | 1q25.2 | |
| Type of gene | protein-coding | |
| Description | centrosome-associated protein 350centrosomal protein 350kDa | |
| Modification date | 20180522 | |
| UniProtAcc | Q5VT06 | |
| Context | PubMed: CEP350 [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 CEP350 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 CEP350 |
| 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 CEP350 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_14470 | 1 | 179956377:179956421:179959641:179959756:179961196:179961356 | 179959641:179959756 | ENSG00000135837.11 | ENST00000367607.3,ENST00000357434.2 |
| exon_skip_14472 | 1 | 179956377:179956421:179961196:179961356:179965687:179966098 | 179961196:179961356 | ENSG00000135837.11 | ENST00000491495.2 |
| exon_skip_14473 | 1 | 179959641:179959756:179961196:179961356:179965687:179966098 | 179961196:179961356 | ENSG00000135837.11 | ENST00000367607.3 |
| exon_skip_14475 | 1 | 179972308:179972422:179975588:179975702:179981063:179981210 | 179975588:179975702 | ENSG00000135837.11 | ENST00000367607.3 |
| exon_skip_14476 | 1 | 180003085:180003217:180006060:180006224:180010272:180010383 | 180006060:180006224 | ENSG00000135837.11 | ENST00000367607.3 |
| exon_skip_14477 | 1 | 180010796:180010937:180012190:180012327:180013185:180013308 | 180012190:180012327 | ENSG00000135837.11 | ENST00000367607.3,ENST00000418229.1 |
| exon_skip_14478 | 1 | 180017676:180017840:180021358:180021451:180022104:180022301 | 180021358:180021451 | ENSG00000135837.11 | ENST00000418229.1 |
| exon_skip_14479 | 1 | 180022884:180023069:180023549:180023637:180031354:180031501 | 180023549:180023637 | ENSG00000135837.11 | ENST00000367607.3 |
| exon_skip_14480 | 1 | 180031354:180031501:180034249:180034407:180044156:180044356 | 180034249:180034407 | ENSG00000135837.11 | ENST00000367607.3 |
| exon_skip_14483 | 1 | 180053152:180053313:180056712:180056852:180059848:180059883 | 180056712:180056852 | ENSG00000135837.11 | ENST00000429851.1,ENST00000367607.3 |
| exon_skip_14486 | 1 | 180067997:180068120:180080131:180080330:180081571:180082515 | 180080131:180080330 | ENSG00000135837.11 | ENST00000417046.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CEP350 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_14470 | 1 | 179956377:179956421:179959641:179959756:179961196:179961356 | 179959641:179959756 | ENSG00000135837.11 | ENST00000367607.3,ENST00000357434.2 |
| exon_skip_14472 | 1 | 179956377:179956421:179961196:179961356:179965687:179966098 | 179961196:179961356 | ENSG00000135837.11 | ENST00000491495.2 |
| exon_skip_14473 | 1 | 179959641:179959756:179961196:179961356:179965687:179966098 | 179961196:179961356 | ENSG00000135837.11 | ENST00000367607.3 |
| exon_skip_14475 | 1 | 179972308:179972422:179975588:179975702:179981063:179981210 | 179975588:179975702 | ENSG00000135837.11 | ENST00000367607.3 |
| exon_skip_14476 | 1 | 180003085:180003217:180006060:180006224:180010272:180010383 | 180006060:180006224 | ENSG00000135837.11 | ENST00000367607.3 |
| exon_skip_14477 | 1 | 180010796:180010937:180012190:180012327:180013185:180013308 | 180012190:180012327 | ENSG00000135837.11 | ENST00000367607.3,ENST00000418229.1 |
| exon_skip_14478 | 1 | 180017676:180017840:180021358:180021451:180022104:180022301 | 180021358:180021451 | ENSG00000135837.11 | ENST00000418229.1 |
| exon_skip_14479 | 1 | 180022884:180023069:180023549:180023637:180031354:180031501 | 180023549:180023637 | ENSG00000135837.11 | ENST00000367607.3 |
| exon_skip_14480 | 1 | 180031354:180031501:180034249:180034407:180044156:180044356 | 180034249:180034407 | ENSG00000135837.11 | ENST00000367607.3 |
| exon_skip_14483 | 1 | 180053152:180053313:180056712:180056852:180059848:180059883 | 180056712:180056852 | ENSG00000135837.11 | ENST00000367607.3,ENST00000429851.1 |
| exon_skip_14486 | 1 | 180067997:180068120:180080131:180080330:180081571:180082515 | 180080131:180080330 | ENSG00000135837.11 | ENST00000417046.1 |
| 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 CEP350 |
| 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 |
| ENST00000367607 | 179959641 | 179959756 | Frame-shift |
| ENST00000367607 | 179961196 | 179961356 | Frame-shift |
| ENST00000367607 | 180006060 | 180006224 | Frame-shift |
| ENST00000367607 | 180012190 | 180012327 | Frame-shift |
| ENST00000367607 | 180023549 | 180023637 | Frame-shift |
| ENST00000367607 | 180034249 | 180034407 | Frame-shift |
| ENST00000367607 | 180056712 | 180056852 | Frame-shift |
| ENST00000367607 | 179975588 | 179975702 | 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 |
| ENST00000367607 | 179959641 | 179959756 | Frame-shift |
| ENST00000367607 | 179961196 | 179961356 | Frame-shift |
| ENST00000367607 | 180006060 | 180006224 | Frame-shift |
| ENST00000367607 | 180012190 | 180012327 | Frame-shift |
| ENST00000367607 | 180023549 | 180023637 | Frame-shift |
| ENST00000367607 | 180034249 | 180034407 | Frame-shift |
| ENST00000367607 | 180056712 | 180056852 | Frame-shift |
| ENST00000367607 | 179975588 | 179975702 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CEP350 |
| 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 |
| ENST00000367607 | 13508 | 3117 | 179975588 | 179975702 | 1551 | 1664 | 377 | 415 |
| 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 |
| ENST00000367607 | 13508 | 3117 | 179975588 | 179975702 | 1551 | 1664 | 377 | 415 |
| 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 |
| Q5VT06 | 377 | 415 | 1 | 3117 | Chain | ID=PRO_0000233291;Note=Centrosome-associated protein 350 |
| 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 |
| Q5VT06 | 377 | 415 | 1 | 3117 | Chain | ID=PRO_0000233291;Note=Centrosome-associated protein 350 |
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SNVs in the skipped exons for CEP350 |
| - 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 |
| KIRP | TCGA-MH-A561-01 | exon_skip_14470 | 179959642 | 179959756 | 179959644 | 179959645 | Frame_Shift_Del | GA | - | p.41_41del |
| KIRP | TCGA-MH-A561-01 | exon_skip_14470 | 179959642 | 179959756 | 179959644 | 179959645 | Frame_Shift_Del | GA | - | p.L41fs |
| LUAD | TCGA-55-7570-01 | exon_skip_14470 | 179959642 | 179959756 | 179959740 | 179959740 | Frame_Shift_Del | A | - | p.R73fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_14472 exon_skip_14473 | 179961197 | 179961356 | 179961221 | 179961221 | Frame_Shift_Del | G | - | p.W87fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_14472 exon_skip_14473 | 179961197 | 179961356 | 179961313 | 179961313 | Frame_Shift_Del | A | - | p.K118fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_14479 | 180023550 | 180023637 | 180023610 | 180023610 | Frame_Shift_Del | T | - | p.G1745fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_14483 | 180056713 | 180056852 | 180056723 | 180056723 | Frame_Shift_Del | A | - | p.E2099fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_14483 | 180056713 | 180056852 | 180056794 | 180056794 | Frame_Shift_Del | A | - | p.K2123fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_14472 exon_skip_14473 | 179961197 | 179961356 | 179961283 | 179961284 | Frame_Shift_Ins | - | G | p.G108fs |
| LUAD | TCGA-17-Z031-01 | exon_skip_14476 | 180006061 | 180006224 | 180006108 | 180006108 | Nonsense_Mutation | G | T | p.E1332* |
| SKCM | TCGA-EE-A185-06 | exon_skip_14476 | 180006061 | 180006224 | 180006154 | 180006154 | Nonsense_Mutation | C | G | p.S1347* |
| SKCM | TCGA-EE-A185-06 | exon_skip_14476 | 180006061 | 180006224 | 180006154 | 180006154 | Nonsense_Mutation | C | G | p.S1347X |
| - 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 |
| RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179961197 | 179961356 | 179961221 | 179961221 | Missense_Mutation | G | C | p.W87S |
| NCC010_KIDNEY | 179961197 | 179961356 | 179961232 | 179961232 | Missense_Mutation | C | G | p.P91A |
| ML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179961197 | 179961356 | 179961272 | 179961272 | Missense_Mutation | G | A | p.R104H |
| CW2_LARGE_INTESTINE | 179961197 | 179961356 | 179961334 | 179961334 | Missense_Mutation | C | T | p.R125C |
| NCIH838_LUNG | 179975589 | 179975702 | 179975591 | 179975591 | Missense_Mutation | G | A | p.D379N |
| TT_THYROID | 179975589 | 179975702 | 179975591 | 179975591 | Missense_Mutation | G | A | p.D379N |
| HS698T_FIBROBLAST | 179975589 | 179975702 | 179975676 | 179975676 | Missense_Mutation | A | G | p.Q407R |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 180006061 | 180006224 | 180006178 | 180006178 | Missense_Mutation | T | A | p.I1355N |
| BCPAP_THYROID | 180012191 | 180012327 | 180012202 | 180012202 | Missense_Mutation | G | C | p.L1458F |
| MEWO_SKIN | 180012191 | 180012327 | 180012245 | 180012245 | Missense_Mutation | C | T | p.P1473S |
| MEWO_SKIN | 180012191 | 180012327 | 180012245 | 180012246 | Missense_Mutation | CC | TT | p.P1473F |
| MEWO_SKIN | 180012191 | 180012327 | 180012246 | 180012246 | Missense_Mutation | C | T | p.P1473L |
| HCC2279_LUNG | 180012191 | 180012327 | 180012273 | 180012273 | Missense_Mutation | G | A | p.R1482Q |
| NCIH1092_LUNG | 180012191 | 180012327 | 180012306 | 180012306 | Missense_Mutation | G | C | p.R1493T |
| NCIH446_LUNG | 180034250 | 180034407 | 180034272 | 180034272 | Missense_Mutation | C | T | p.T1811I |
| HCC1359_LUNG | 180034250 | 180034407 | 180034395 | 180034395 | Missense_Mutation | G | T | p.R1852L |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 180056713 | 180056852 | 180056849 | 180056849 | Missense_Mutation | A | G | p.H2141R |
| LU165_LUNG | 180056713 | 180056852 | 180056722 | 180056722 | Nonsense_Mutation | G | T | p.E2099* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CEP350 |
| 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 CEP350 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CEP350 |
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RelatedDrugs for CEP350 |
| 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 CEP350 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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