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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 TUBGCP4 |
 Gene summary |
| Gene information | Gene symbol | TUBGCP4 | Gene ID | 27229 |
| Gene name | tubulin gamma complex associated protein 4 | |
| Synonyms | 76P|GCP-4|GCP4|Grip76|MCCRP3 | |
| Cytomap | 15q15.3 | |
| Type of gene | protein-coding | |
| Description | gamma-tubulin complex component 4gamma tubulin ring complex protein (76p gene)gamma-ring complex protein 76 kDa | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UGJ1 | |
| Context | PubMed: TUBGCP4 [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 TUBGCP4 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 TUBGCP4 |
| 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 TUBGCP4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_121515 | 15 | 43672281:43672361:43675500:43675702:43677988:43678114 | 43675500:43675702 | ENSG00000137822.8 | ENST00000561691.1,ENST00000260383.7,ENST00000564079.1,ENST00000399460.3 |
| exon_skip_121516 | 15 | 43675500:43675702:43677565:43677706:43677988:43678114 | 43677565:43677706 | ENSG00000137822.8 | ENST00000563412.1 |
| exon_skip_121518 | 15 | 43678403:43678528:43687304:43687355:43687780:43687886 | 43687304:43687355 | ENSG00000137822.8 | ENST00000561691.1,ENST00000260383.7,ENST00000564079.1,ENST00000399460.3 |
| exon_skip_121520 | 15 | 43690327:43690377:43691309:43691372:43692241:43692419 | 43691309:43691372 | ENSG00000137822.8 | ENST00000561691.1,ENST00000399460.3 |
| exon_skip_121522 | 15 | 43692241:43692419:43693913:43694048:43695880:43695997 | 43693913:43694048 | ENSG00000137822.8 | ENST00000561691.1,ENST00000260383.7,ENST00000564079.1,ENST00000399460.3 |
| exon_skip_121526 | 15 | 43694015:43694048:43695880:43695997:43696610:43696750 | 43695880:43695997 | ENSG00000137822.8 | ENST00000561691.1,ENST00000260383.7,ENST00000565548.1,ENST00000564079.1,ENST00000399460.3 |
| exon_skip_121527 | 15 | 43694015:43694048:43695880:43696040:43696610:43696750 | 43695880:43696040 | ENSG00000137822.8 | ENST00000566251.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TUBGCP4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_121515 | 15 | 43672281:43672361:43675500:43675702:43677988:43678114 | 43675500:43675702 | ENSG00000137822.8 | ENST00000260383.7,ENST00000564079.1,ENST00000561691.1,ENST00000399460.3 |
| exon_skip_121516 | 15 | 43675500:43675702:43677565:43677706:43677988:43678114 | 43677565:43677706 | ENSG00000137822.8 | ENST00000563412.1 |
| exon_skip_121518 | 15 | 43678403:43678528:43687304:43687355:43687780:43687886 | 43687304:43687355 | ENSG00000137822.8 | ENST00000260383.7,ENST00000564079.1,ENST00000561691.1,ENST00000399460.3 |
| exon_skip_121520 | 15 | 43690327:43690377:43691309:43691372:43692241:43692419 | 43691309:43691372 | ENSG00000137822.8 | ENST00000561691.1,ENST00000399460.3 |
| exon_skip_121522 | 15 | 43692241:43692419:43693913:43694048:43695880:43695997 | 43693913:43694048 | ENSG00000137822.8 | ENST00000260383.7,ENST00000564079.1,ENST00000561691.1,ENST00000399460.3 |
| exon_skip_121526 | 15 | 43694015:43694048:43695880:43695997:43696610:43696750 | 43695880:43695997 | ENSG00000137822.8 | ENST00000260383.7,ENST00000564079.1,ENST00000561691.1,ENST00000399460.3,ENST00000565548.1 |
| exon_skip_121527 | 15 | 43694015:43694048:43695880:43696040:43696610:43696750 | 43695880:43696040 | ENSG00000137822.8 | ENST00000566251.1 |
| 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 TUBGCP4 |
| 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 |
| ENST00000260383 | 43675500 | 43675702 | Frame-shift |
| ENST00000260383 | 43687304 | 43687355 | In-frame |
| ENST00000260383 | 43693913 | 43694048 | In-frame |
| ENST00000260383 | 43695880 | 43695997 | 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 |
| ENST00000260383 | 43675500 | 43675702 | Frame-shift |
| ENST00000260383 | 43687304 | 43687355 | In-frame |
| ENST00000260383 | 43693913 | 43694048 | In-frame |
| ENST00000260383 | 43695880 | 43695997 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TUBGCP4 |
| 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 |
| ENST00000260383 | 2634 | 667 | 43687304 | 43687355 | 1269 | 1319 | 338 | 355 |
| ENST00000260383 | 2634 | 667 | 43693913 | 43694048 | 1854 | 1988 | 533 | 578 |
| ENST00000260383 | 2634 | 667 | 43695880 | 43695997 | 1989 | 2105 | 578 | 617 |
| 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 |
| ENST00000260383 | 2634 | 667 | 43687304 | 43687355 | 1269 | 1319 | 338 | 355 |
| ENST00000260383 | 2634 | 667 | 43693913 | 43694048 | 1854 | 1988 | 533 | 578 |
| ENST00000260383 | 2634 | 667 | 43695880 | 43695997 | 1989 | 2105 | 578 | 617 |
| 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 |
| Q9UGJ1 | 338 | 355 | 1 | 667 | Chain | ID=PRO_0000078124;Note=Gamma-tubulin complex component 4 |
| Q9UGJ1 | 338 | 355 | 322 | 347 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 338 | 355 | 350 | 360 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 533 | 578 | 1 | 667 | Chain | ID=PRO_0000078124;Note=Gamma-tubulin complex component 4 |
| Q9UGJ1 | 533 | 578 | 509 | 535 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 533 | 578 | 537 | 549 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 533 | 578 | 554 | 574 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 533 | 578 | 576 | 597 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 578 | 617 | 1 | 667 | Chain | ID=PRO_0000078124;Note=Gamma-tubulin complex component 4 |
| Q9UGJ1 | 578 | 617 | 576 | 597 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 578 | 617 | 606 | 635 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| 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 |
| Q9UGJ1 | 338 | 355 | 1 | 667 | Chain | ID=PRO_0000078124;Note=Gamma-tubulin complex component 4 |
| Q9UGJ1 | 338 | 355 | 322 | 347 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 338 | 355 | 350 | 360 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 533 | 578 | 1 | 667 | Chain | ID=PRO_0000078124;Note=Gamma-tubulin complex component 4 |
| Q9UGJ1 | 533 | 578 | 509 | 535 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 533 | 578 | 537 | 549 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 533 | 578 | 554 | 574 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 533 | 578 | 576 | 597 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 578 | 617 | 1 | 667 | Chain | ID=PRO_0000078124;Note=Gamma-tubulin complex component 4 |
| Q9UGJ1 | 578 | 617 | 576 | 597 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
| Q9UGJ1 | 578 | 617 | 606 | 635 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RIP |
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SNVs in the skipped exons for TUBGCP4 |
| - 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. |
TUBGCP4_HNSC_exon_skip_121518_psi_boxplot.png |
| - 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_121515 | 43675501 | 43675702 | 43675520 | 43675520 | Frame_Shift_Del | G | - | p.G181fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_121515 | 43675501 | 43675702 | 43675520 | 43675520 | Frame_Shift_Del | G | - | p.H180fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_121515 | 43675501 | 43675702 | 43675532 | 43675532 | Frame_Shift_Del | A | - | p.K185fs |
| STAD | TCGA-CD-A4MI-01 | exon_skip_121515 | 43675501 | 43675702 | 43675661 | 43675661 | Frame_Shift_Del | G | - | p.I227fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_121522 | 43693914 | 43694048 | 43693966 | 43693966 | Frame_Shift_Del | C | - | p.T550fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_121526 | 43695881 | 43695997 | 43695922 | 43695922 | Frame_Shift_Del | T | - | p.S591fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_121527 | 43695881 | 43696040 | 43695922 | 43695922 | Frame_Shift_Del | T | - | p.S591fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_121526 | 43695881 | 43695997 | 43695922 | 43695922 | Frame_Shift_Del | T | - | p.S591fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_121527 | 43695881 | 43696040 | 43695922 | 43695922 | Frame_Shift_Del | T | - | p.S591fs |
| HNSC | TCGA-CQ-5326-01 | exon_skip_121518 | 43687305 | 43687355 | 43687329 | 43687329 | Nonsense_Mutation | G | T | p.E347* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_121518 | 43687305 | 43687355 | 43687329 | 43687329 | Nonsense_Mutation | G | T | p.E347* |
| PAAD | TCGA-IB-7651-01 | exon_skip_121522 | 43693914 | 43694048 | 43693986 | 43693986 | Nonsense_Mutation | C | T | p.R557* |
| PAAD | TCGA-IB-7651-01 | exon_skip_121522 | 43693914 | 43694048 | 43693986 | 43693986 | Nonsense_Mutation | C | T | p.R557X |
| PAAD | TCGA-IB-7651-01 | exon_skip_121522 | 43693914 | 43694048 | 43693986 | 43693986 | Nonsense_Mutation | C | T | p.R558* |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_121522 | 43693914 | 43694048 | 43693986 | 43693986 | Nonsense_Mutation | C | T | p.R557* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CQ-5326-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_121518 | |
| Skipped exon start: 43687305 | |
| Skipped exon end: 43687355 | |
| Mutation start: 43687329 | |
| Mutation end: 43687329 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E347* | |
exon_skip_121518_HNSC_TCGA-CQ-5326-01.png | |
exon_skip_62282_HNSC_TCGA-CQ-5326-01.png | |
 | Sample: TCGA-BS-A0UV-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_121518 | |
| Skipped exon start: 43687305 | |
| Skipped exon end: 43687355 | |
| Mutation start: 43687329 | |
| Mutation end: 43687329 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E347* | |
exon_skip_121518_UCEC_TCGA-BS-A0UV-01.png | |
exon_skip_331787_UCEC_TCGA-BS-A0UV-01.png | |
exon_skip_336814_UCEC_TCGA-BS-A0UV-01.png | |
exon_skip_376191_UCEC_TCGA-BS-A0UV-01.png | |
exon_skip_428559_UCEC_TCGA-BS-A0UV-01.png | |
exon_skip_434353_UCEC_TCGA-BS-A0UV-01.png | |
exon_skip_442836_UCEC_TCGA-BS-A0UV-01.png | |
exon_skip_474328_UCEC_TCGA-BS-A0UV-01.png | |
exon_skip_517296_UCEC_TCGA-BS-A0UV-01.png | |
exon_skip_59253_UCEC_TCGA-BS-A0UV-01.png | |
exon_skip_99140_UCEC_TCGA-BS-A0UV-01.png | |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 43693914 | 43694048 | 43693966 | 43693967 | Frame_Shift_Del | CC | - | p.T551fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 43693914 | 43694048 | 43694036 | 43694037 | Frame_Shift_Del | CC | - | p.L576fs |
| HCC1438_LUNG | 43695881 | 43695997 | 43695900 | 43695903 | Frame_Shift_Del | AAAT | - | p.EI585fs |
| HCC1438_LUNG | 43695881 | 43696040 | 43695900 | 43695903 | Frame_Shift_Del | AAAT | - | p.EI585fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 43693914 | 43694048 | 43693970 | 43693971 | Frame_Shift_Ins | - | GG | p.D553fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 43693914 | 43694048 | 43694040 | 43694041 | Frame_Shift_Ins | - | GC | p.L576fs |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43675501 | 43675702 | 43675586 | 43675586 | Missense_Mutation | T | G | p.F203V |
| SNU1_STOMACH | 43687305 | 43687355 | 43687344 | 43687344 | Missense_Mutation | G | A | p.G352S |
| HEC151_ENDOMETRIUM | 43695881 | 43695997 | 43695963 | 43695963 | Missense_Mutation | A | G | p.E606G |
| HEC151_ENDOMETRIUM | 43695881 | 43696040 | 43695963 | 43695963 | Missense_Mutation | A | G | p.E606G |
| MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43695881 | 43695997 | 43695965 | 43695965 | Missense_Mutation | C | T | p.R607C |
| MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43695881 | 43696040 | 43695965 | 43695965 | Missense_Mutation | C | T | p.R607C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TUBGCP4 |
| 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 TUBGCP4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TUBGCP4 |
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RelatedDrugs for TUBGCP4 |
| 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 TUBGCP4 |
| 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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