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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 CEP95 |
 Gene summary |
| Gene information | Gene symbol | CEP95 | Gene ID | 90799 |
| Gene name | centrosomal protein 95 | |
| Synonyms | CCDC45 | |
| Cytomap | 17q23.3 | |
| Type of gene | protein-coding | |
| Description | centrosomal protein of 95 kDacentrosomal protein 95kDacoiled-coil domain containing 45coiled-coil domain-containing protein 45 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96GE4 | |
| Context | PubMed: CEP95 [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 CEP95 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 CEP95 |
| 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 CEP95 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_155336 | 17 | 62504813:62504838:62506290:62506398:62510365:62510476 | 62506290:62506398 | ENSG00000258890.2 | ENST00000580188.1,ENST00000581056.1,ENST00000556440.2,ENST00000553412.1,ENST00000579860.1 |
| exon_skip_155344 | 17 | 62510365:62510476:62512840:62512946:62515438:62515554 | 62512840:62512946 | ENSG00000258890.2 | ENST00000553956.2,ENST00000556440.2 |
| exon_skip_155350 | 17 | 62510365:62510476:62515438:62515554:62517519:62517592 | 62515438:62515554 | ENSG00000258890.2 | ENST00000580188.1,ENST00000553412.1,ENST00000579860.1 |
| exon_skip_155356 | 17 | 62515438:62515554:62516603:62516694:62517519:62517592 | 62516603:62516694 | ENSG00000258890.2 | ENST00000577960.1 |
| exon_skip_155357 | 17 | 62515438:62515554:62517519:62517645:62518819:62518872 | 62517519:62517645 | ENSG00000258890.2 | ENST00000553956.2,ENST00000556440.2,ENST00000553412.1,ENST00000579860.1 |
| exon_skip_155362 | 17 | 62517519:62517645:62518819:62519013:62521887:62521952 | 62518819:62519013 | ENSG00000258890.2 | ENST00000553956.2,ENST00000577960.1,ENST00000556440.2,ENST00000553412.1 |
| exon_skip_155364 | 17 | 62522283:62522318:62523228:62523382:62525405:62525545 | 62523228:62523382 | ENSG00000258890.2 | ENST00000553956.2,ENST00000579117.1,ENST00000583457.1,ENST00000577476.1,ENST00000556440.2,ENST00000553412.1 |
| exon_skip_155367 | 17 | 62525466:62525545:62527043:62527136:62528007:62528046 | 62527043:62527136 | ENSG00000258890.2 | ENST00000556440.2,ENST00000579637.1,ENST00000553412.1 |
| exon_skip_155368 | 17 | 62525466:62525545:62527043:62527140:62528007:62528046 | 62527043:62527140 | ENSG00000258890.2 | ENST00000553956.2,ENST00000577476.1,ENST00000584857.1 |
| exon_skip_155369 | 17 | 62530702:62530855:62532719:62532866:62533158:62533230 | 62532719:62532866 | ENSG00000258890.2 | ENST00000553956.2,ENST00000556440.2,ENST00000553412.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CEP95 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_155336 | 17 | 62504813:62504838:62506290:62506398:62510365:62510476 | 62506290:62506398 | ENSG00000258890.2 | ENST00000556440.2,ENST00000579860.1,ENST00000580188.1,ENST00000581056.1,ENST00000553412.1 |
| exon_skip_155344 | 17 | 62510365:62510476:62512840:62512946:62515438:62515554 | 62512840:62512946 | ENSG00000258890.2 | ENST00000556440.2,ENST00000553956.2 |
| exon_skip_155350 | 17 | 62510365:62510476:62515438:62515554:62517519:62517592 | 62515438:62515554 | ENSG00000258890.2 | ENST00000579860.1,ENST00000580188.1,ENST00000553412.1 |
| exon_skip_155356 | 17 | 62515438:62515554:62516603:62516694:62517519:62517592 | 62516603:62516694 | ENSG00000258890.2 | ENST00000577960.1 |
| exon_skip_155357 | 17 | 62515438:62515554:62517519:62517645:62518819:62518872 | 62517519:62517645 | ENSG00000258890.2 | ENST00000556440.2,ENST00000579860.1,ENST00000553412.1,ENST00000553956.2 |
| exon_skip_155362 | 17 | 62517519:62517645:62518819:62519013:62521887:62521952 | 62518819:62519013 | ENSG00000258890.2 | ENST00000556440.2,ENST00000553412.1,ENST00000553956.2,ENST00000577960.1 |
| exon_skip_155364 | 17 | 62522283:62522318:62523228:62523382:62525405:62525545 | 62523228:62523382 | ENSG00000258890.2 | ENST00000556440.2,ENST00000553412.1,ENST00000553956.2,ENST00000577476.1,ENST00000579117.1,ENST00000583457.1 |
| exon_skip_155367 | 17 | 62525466:62525545:62527043:62527136:62528007:62528046 | 62527043:62527136 | ENSG00000258890.2 | ENST00000556440.2,ENST00000553412.1,ENST00000579637.1 |
| exon_skip_155368 | 17 | 62525466:62525545:62527043:62527140:62528007:62528046 | 62527043:62527140 | ENSG00000258890.2 | ENST00000553956.2,ENST00000577476.1,ENST00000584857.1 |
| exon_skip_155369 | 17 | 62530702:62530855:62532719:62532866:62533158:62533230 | 62532719:62532866 | ENSG00000258890.2 | ENST00000556440.2,ENST00000553412.1,ENST00000553956.2 |
| 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 CEP95 |
| 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 |
| ENST00000556440 | 62512840 | 62512946 | Frame-shift |
| ENST00000556440 | 62518819 | 62519013 | Frame-shift |
| ENST00000556440 | 62523228 | 62523382 | Frame-shift |
| ENST00000556440 | 62506290 | 62506398 | In-frame |
| ENST00000556440 | 62517519 | 62517645 | In-frame |
| ENST00000556440 | 62527043 | 62527136 | In-frame |
| ENST00000556440 | 62532719 | 62532866 | 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 |
| ENST00000556440 | 62512840 | 62512946 | Frame-shift |
| ENST00000556440 | 62518819 | 62519013 | Frame-shift |
| ENST00000556440 | 62523228 | 62523382 | Frame-shift |
| ENST00000556440 | 62506290 | 62506398 | In-frame |
| ENST00000556440 | 62517519 | 62517645 | In-frame |
| ENST00000556440 | 62527043 | 62527136 | In-frame |
| ENST00000556440 | 62532719 | 62532866 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CEP95 |
| 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 |
| ENST00000556440 | 3156 | 821 | 62506290 | 62506398 | 659 | 766 | 49 | 85 |
| ENST00000556440 | 3156 | 821 | 62517519 | 62517645 | 1100 | 1225 | 196 | 238 |
| ENST00000556440 | 3156 | 821 | 62527043 | 62527136 | 1957 | 2049 | 482 | 513 |
| ENST00000556440 | 3156 | 821 | 62532719 | 62532866 | 2581 | 2727 | 690 | 739 |
| 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 |
| ENST00000556440 | 3156 | 821 | 62506290 | 62506398 | 659 | 766 | 49 | 85 |
| ENST00000556440 | 3156 | 821 | 62517519 | 62517645 | 1100 | 1225 | 196 | 238 |
| ENST00000556440 | 3156 | 821 | 62527043 | 62527136 | 1957 | 2049 | 482 | 513 |
| ENST00000556440 | 3156 | 821 | 62532719 | 62532866 | 2581 | 2727 | 690 | 739 |
| 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 |
| Q96GE4 | 49 | 85 | 1 | 164 | Alternative sequence | ID=VSP_056356;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96GE4 | 49 | 85 | 1 | 821 | Chain | ID=PRO_0000234505;Note=Centrosomal protein of 95 kDa |
| Q96GE4 | 196 | 238 | 1 | 821 | Chain | ID=PRO_0000234505;Note=Centrosomal protein of 95 kDa |
| Q96GE4 | 482 | 513 | 1 | 821 | Chain | ID=PRO_0000234505;Note=Centrosomal protein of 95 kDa |
| Q96GE4 | 690 | 739 | 1 | 821 | Chain | ID=PRO_0000234505;Note=Centrosomal protein of 95 kDa |
| Q96GE4 | 690 | 739 | 700 | 794 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q96GE4 | 49 | 85 | 1 | 164 | Alternative sequence | ID=VSP_056356;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96GE4 | 49 | 85 | 1 | 821 | Chain | ID=PRO_0000234505;Note=Centrosomal protein of 95 kDa |
| Q96GE4 | 196 | 238 | 1 | 821 | Chain | ID=PRO_0000234505;Note=Centrosomal protein of 95 kDa |
| Q96GE4 | 482 | 513 | 1 | 821 | Chain | ID=PRO_0000234505;Note=Centrosomal protein of 95 kDa |
| Q96GE4 | 690 | 739 | 1 | 821 | Chain | ID=PRO_0000234505;Note=Centrosomal protein of 95 kDa |
| Q96GE4 | 690 | 739 | 700 | 794 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CEP95 |
| - 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. |
CEP95_THCA_exon_skip_155344_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 |
| STAD | TCGA-BR-8363-01 | exon_skip_155357 | 62517520 | 62517645 | 62517549 | 62517549 | Frame_Shift_Del | A | - | p.S206fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_155362 | 62518820 | 62519013 | 62518829 | 62518829 | Frame_Shift_Del | T | - | p.L242fs |
| KIRP | TCGA-2Z-A9JG-01 | exon_skip_155362 | 62518820 | 62519013 | 62518864 | 62518864 | Frame_Shift_Del | G | - | p.L253fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_155362 | 62518820 | 62519013 | 62518864 | 62518864 | Frame_Shift_Del | G | - | p.G254fs |
| THCA | TCGA-EL-A3H8-01 | exon_skip_155344 | 62512841 | 62512946 | 62512852 | 62512852 | Nonsense_Mutation | C | T | p.Q127* |
| THCA | TCGA-EL-A3H8-01 | exon_skip_155344 | 62512841 | 62512946 | 62512852 | 62512852 | Nonsense_Mutation | C | T | p.Q127X |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_155344 | 62512841 | 62512946 | 62512864 | 62512864 | Nonsense_Mutation | G | T | p.E131* |
| GBM | TCGA-81-5911-01 | exon_skip_155369 | 62532720 | 62532866 | 62532771 | 62532771 | Nonsense_Mutation | C | T | p.R708* |
| COAD | TCGA-G4-6588-01 | exon_skip_155369 | 62532720 | 62532866 | 62532801 | 62532801 | Nonsense_Mutation | C | T | p.R718X |
| BLCA | TCGA-FD-A6TH-01 | exon_skip_155369 | 62532720 | 62532866 | 62532807 | 62532807 | Nonsense_Mutation | G | T | p.E720* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_155362 | 62518820 | 62519013 | 62518818 | 62518818 | Splice_Site | A | C | . |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_155364 | 62523229 | 62523382 | 62523228 | 62523228 | Splice_Site | G | T | e11-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EL-A3H8-01 |
| Cancer type: THCA | |
| ESID: exon_skip_155344 | |
| Skipped exon start: 62512841 | |
| Skipped exon end: 62512946 | |
| Mutation start: 62512852 | |
| Mutation end: 62512852 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q127X | |
| Sample: TCGA-EL-A3H8-01 |
| Cancer type: THCA | |
| ESID: exon_skip_155344 | |
| Skipped exon start: 62512841 | |
| Skipped exon end: 62512946 | |
| Mutation start: 62512852 | |
| Mutation end: 62512852 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q127* | |
exon_skip_155344_THCA_TCGA-EL-A3H8-01.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 |
| FU97_STOMACH | 62518820 | 62519013 | 62519003 | 62519003 | Frame_Shift_Del | A | - | p.E300fs |
| SF295_CENTRAL_NERVOUS_SYSTEM | 62512841 | 62512946 | 62512941 | 62512942 | Frame_Shift_Ins | - | G | p.G157fs |
| RKO_LARGE_INTESTINE | 62517520 | 62517645 | 62517548 | 62517549 | Frame_Shift_Ins | - | A | p.K207fs |
| NCIH740_LUNG | 62506291 | 62506398 | 62506297 | 62506297 | Missense_Mutation | T | G | p.I52R |
| HS600T_FIBROBLAST | 62517520 | 62517645 | 62517553 | 62517553 | Missense_Mutation | A | G | p.K208R |
| MM386_SKIN | 62517520 | 62517645 | 62517571 | 62517571 | Missense_Mutation | G | A | p.S214N |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62517520 | 62517645 | 62517630 | 62517630 | Missense_Mutation | T | C | p.S234P |
| MFE280_ENDOMETRIUM | 62518820 | 62519013 | 62518876 | 62518876 | Missense_Mutation | C | G | p.R258G |
| DSH1_URINARY_TRACT | 62518820 | 62519013 | 62518900 | 62518900 | Missense_Mutation | C | T | p.P266S |
| SNGM_ENDOMETRIUM | 62518820 | 62519013 | 62518922 | 62518922 | Missense_Mutation | G | A | p.R273Q |
| HCC2998_LARGE_INTESTINE | 62518820 | 62519013 | 62519006 | 62519006 | Missense_Mutation | T | G | p.F301C |
| SNU1040_LARGE_INTESTINE | 62523229 | 62523382 | 62523254 | 62523254 | Missense_Mutation | G | A | p.R393Q |
| HEC1A_ENDOMETRIUM | 62527044 | 62527136 | 62527125 | 62527125 | Missense_Mutation | G | A | p.E510K |
| HEC1A_ENDOMETRIUM | 62527044 | 62527140 | 62527125 | 62527125 | Missense_Mutation | G | A | p.E510K |
| HEC1_ENDOMETRIUM | 62527044 | 62527136 | 62527125 | 62527125 | Missense_Mutation | G | A | p.E510K |
| HEC1_ENDOMETRIUM | 62527044 | 62527140 | 62527125 | 62527125 | Missense_Mutation | G | A | p.E510K |
| HEC1B_ENDOMETRIUM | 62527044 | 62527136 | 62527125 | 62527125 | Missense_Mutation | G | A | p.E510K |
| HEC1B_ENDOMETRIUM | 62527044 | 62527140 | 62527125 | 62527125 | Missense_Mutation | G | A | p.E510K |
| EW13_BONE | 62532720 | 62532866 | 62532855 | 62532855 | Missense_Mutation | T | C | p.Y736H |
| 22RV1_PROSTATE | 62512841 | 62512946 | 62512873 | 62512873 | Nonsense_Mutation | C | T | p.R134* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CEP95 |
| 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 CEP95 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CEP95 |
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RelatedDrugs for CEP95 |
| 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 CEP95 |
| 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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