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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 TUBGCP3 |
 Gene summary |
| Gene information | Gene symbol | TUBGCP3 | Gene ID | 10426 |
| Gene name | tubulin gamma complex associated protein 3 | |
| Synonyms | 104p|ALP6|GCP3|Grip104|SPBC98|Spc98|Spc98p | |
| Cytomap | 13q34 | |
| Type of gene | protein-coding | |
| Description | gamma-tubulin complex component 3gamma-ring complex protein 104 kDaspindle pole body protein Spc98 homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q96CW5 | |
| Context | PubMed: TUBGCP3 [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 TUBGCP3 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 TUBGCP3 |
| 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 TUBGCP3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_104797 | 13 | 113140157:113140465:113143894:113144011:113153358:113153499 | 113143894:113144011 | ENSG00000126216.8 | ENST00000261965.3 |
| exon_skip_104798 | 13 | 113153358:113153499:113158345:113158477:113158939:113159028 | 113158345:113158477 | ENSG00000126216.8 | ENST00000375669.3,ENST00000261965.3 |
| exon_skip_104802 | 13 | 113173288:113173357:113174199:113174335:113176633:113176823 | 113174199:113174335 | ENSG00000126216.8 | ENST00000375669.3,ENST00000261965.3 |
| exon_skip_104809 | 13 | 113200012:113200179:113201933:113202066:113202421:113202490 | 113201933:113202066 | ENSG00000126216.8 | ENST00000375669.3,ENST00000261965.3 |
| exon_skip_104812 | 13 | 113201933:113202066:113202421:113202490:113208370:113208496 | 113202421:113202490 | ENSG00000126216.8 | ENST00000375669.3,ENST00000261965.3,ENST00000464139.1 |
| exon_skip_104813 | 13 | 113219424:113219492:113223465:113223573:113242218:113242439 | 113223465:113223573 | ENSG00000126216.8 | ENST00000375669.3,ENST00000464139.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TUBGCP3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_104797 | 13 | 113140157:113140465:113143894:113144011:113153358:113153499 | 113143894:113144011 | ENSG00000126216.8 | ENST00000261965.3 |
| exon_skip_104798 | 13 | 113153358:113153499:113158345:113158477:113158939:113159028 | 113158345:113158477 | ENSG00000126216.8 | ENST00000261965.3,ENST00000375669.3 |
| exon_skip_104802 | 13 | 113173288:113173357:113174199:113174335:113176633:113176823 | 113174199:113174335 | ENSG00000126216.8 | ENST00000261965.3,ENST00000375669.3 |
| exon_skip_104809 | 13 | 113200012:113200179:113201933:113202066:113202421:113202490 | 113201933:113202066 | ENSG00000126216.8 | ENST00000261965.3,ENST00000375669.3 |
| exon_skip_104812 | 13 | 113201933:113202066:113202421:113202490:113208370:113208496 | 113202421:113202490 | ENSG00000126216.8 | ENST00000261965.3,ENST00000375669.3,ENST00000464139.1 |
| exon_skip_104813 | 13 | 113219424:113219492:113223465:113223573:113242218:113242439 | 113223465:113223573 | ENSG00000126216.8 | ENST00000375669.3,ENST00000464139.1 |
| 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 TUBGCP3 |
| 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 |
| ENST00000261965 | 113174199 | 113174335 | Frame-shift |
| ENST00000261965 | 113201933 | 113202066 | Frame-shift |
| ENST00000261965 | 113143894 | 113144011 | In-frame |
| ENST00000261965 | 113158345 | 113158477 | In-frame |
| ENST00000261965 | 113202421 | 113202490 | 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 |
| ENST00000261965 | 113174199 | 113174335 | Frame-shift |
| ENST00000261965 | 113201933 | 113202066 | Frame-shift |
| ENST00000261965 | 113143894 | 113144011 | In-frame |
| ENST00000261965 | 113158345 | 113158477 | In-frame |
| ENST00000261965 | 113202421 | 113202490 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TUBGCP3 |
| 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 |
| ENST00000261965 | 3910 | 907 | 113202421 | 113202490 | 1154 | 1222 | 322 | 345 |
| ENST00000261965 | 3910 | 907 | 113158345 | 113158477 | 2363 | 2494 | 725 | 769 |
| ENST00000261965 | 3910 | 907 | 113143894 | 113144011 | 2636 | 2752 | 816 | 855 |
| 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 |
| ENST00000261965 | 3910 | 907 | 113202421 | 113202490 | 1154 | 1222 | 322 | 345 |
| ENST00000261965 | 3910 | 907 | 113158345 | 113158477 | 2363 | 2494 | 725 | 769 |
| ENST00000261965 | 3910 | 907 | 113143894 | 113144011 | 2636 | 2752 | 816 | 855 |
| 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 |
| Q96CW5 | 322 | 345 | 2 | 907 | Chain | ID=PRO_0000078118;Note=Gamma-tubulin complex component 3 |
| Q96CW5 | 725 | 769 | 435 | 907 | Alternative sequence | ID=VSP_001623;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96CW5 | 725 | 769 | 2 | 907 | Chain | ID=PRO_0000078118;Note=Gamma-tubulin complex component 3 |
| Q96CW5 | 816 | 855 | 435 | 907 | Alternative sequence | ID=VSP_001623;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96CW5 | 816 | 855 | 817 | 824 | Alternative sequence | ID=VSP_001620;Note=In isoform 2. GQWGVTAA->VEMCLYCV;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9566969,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:9566969 |
| Q96CW5 | 816 | 855 | 825 | 907 | Alternative sequence | ID=VSP_001621;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9566969,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:9566969 |
| Q96CW5 | 816 | 855 | 2 | 907 | Chain | ID=PRO_0000078118;Note=Gamma-tubulin complex component 3 |
| Q96CW5 | 816 | 855 | 825 | 829 | Compositional bias | Note=Poly-Glu |
| 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 |
| Q96CW5 | 322 | 345 | 2 | 907 | Chain | ID=PRO_0000078118;Note=Gamma-tubulin complex component 3 |
| Q96CW5 | 725 | 769 | 435 | 907 | Alternative sequence | ID=VSP_001623;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96CW5 | 725 | 769 | 2 | 907 | Chain | ID=PRO_0000078118;Note=Gamma-tubulin complex component 3 |
| Q96CW5 | 816 | 855 | 435 | 907 | Alternative sequence | ID=VSP_001623;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96CW5 | 816 | 855 | 817 | 824 | Alternative sequence | ID=VSP_001620;Note=In isoform 2. GQWGVTAA->VEMCLYCV;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9566969,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:9566969 |
| Q96CW5 | 816 | 855 | 825 | 907 | Alternative sequence | ID=VSP_001621;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9566969,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:9566969 |
| Q96CW5 | 816 | 855 | 2 | 907 | Chain | ID=PRO_0000078118;Note=Gamma-tubulin complex component 3 |
| Q96CW5 | 816 | 855 | 825 | 829 | Compositional bias | Note=Poly-Glu |
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SNVs in the skipped exons for TUBGCP3 |
| - 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-A39Y-01 | exon_skip_104797 | 113143895 | 113144011 | 113143971 | 113143971 | Frame_Shift_Del | T | - | p.N830fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_104797 | 113143895 | 113144011 | 113143971 | 113143971 | Frame_Shift_Del | T | - | p.N830fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_104798 | 113158346 | 113158477 | 113158422 | 113158422 | Frame_Shift_Del | A | - | p.L744fs |
| BLCA | TCGA-XF-A9T6-01 | exon_skip_104812 | 113202422 | 113202490 | 113202484 | 113202484 | Frame_Shift_Del | A | - | p.C325fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_104813 | 113223466 | 113223573 | 113223492 | 113223492 | Frame_Shift_Del | A | - | p.L53fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_104813 | 113223466 | 113223573 | 113223562 | 113223562 | Frame_Shift_Del | G | - | p.Q31fs |
| UCEC | TCGA-B5-A11N-01 | exon_skip_104797 | 113143895 | 113144011 | 113143948 | 113143948 | Nonsense_Mutation | C | A | p.E838* |
| SKCM | TCGA-ER-A19P-06 | exon_skip_104798 | 113158346 | 113158477 | 113158471 | 113158471 | Nonsense_Mutation | C | A | p.E728* |
| ESCA | TCGA-VR-AA7D-01 | exon_skip_104809 | 113201934 | 113202066 | 113201973 | 113201973 | Nonsense_Mutation | G | A | p.R377* |
| - 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 |
| TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113174200 | 113174335 | 113174249 | 113174250 | Frame_Shift_Del | TG | - | p.Q611fs |
| NCIH841_LUNG | 113143895 | 113144011 | 113143945 | 113143945 | Missense_Mutation | A | G | p.S839P |
| CW2_LARGE_INTESTINE | 113158346 | 113158477 | 113158366 | 113158366 | Missense_Mutation | G | T | p.L763M |
| KMH2_THYROID | 113174200 | 113174335 | 113174207 | 113174207 | Missense_Mutation | A | T | p.L625Q |
| SNU1040_LARGE_INTESTINE | 113174200 | 113174335 | 113174253 | 113174253 | Missense_Mutation | C | T | p.A610T |
| SNU175_LARGE_INTESTINE | 113201934 | 113202066 | 113202006 | 113202006 | Missense_Mutation | G | A | p.R366C |
| HEC1A_ENDOMETRIUM | 113202422 | 113202490 | 113202439 | 113202439 | Missense_Mutation | A | G | p.S340P |
| SNUC5_LARGE_INTESTINE | 113202422 | 113202490 | 113202454 | 113202454 | Missense_Mutation | A | G | p.Y335H |
| SNU81_LARGE_INTESTINE | 113202422 | 113202490 | 113202481 | 113202481 | Missense_Mutation | C | T | p.A326T |
| SNU1040_LARGE_INTESTINE | 113223466 | 113223573 | 113223520 | 113223520 | Missense_Mutation | C | T | p.A44T |
| SNU81_LARGE_INTESTINE | 113143895 | 113144011 | 113143957 | 113143957 | Nonsense_Mutation | C | A | p.E835* |
| SNU1040_LARGE_INTESTINE | 113174200 | 113174335 | 113174226 | 113174226 | Nonsense_Mutation | G | A | p.R619* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TUBGCP3 |
| 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 TUBGCP3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TUBGCP3 |
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RelatedDrugs for TUBGCP3 |
| 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 TUBGCP3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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