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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 CCDC125 |
 Gene summary |
| Gene information | Gene symbol | CCDC125 | Gene ID | 202243 |
| Gene name | coiled-coil domain containing 125 | |
| Synonyms | KENAE | |
| Cytomap | 5q13.2 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 125Kenae | |
| Modification date | 20180403 | |
| UniProtAcc | Q86Z20 | |
| Context | PubMed: CCDC125 [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 |
| CCDC125 | GO:0035024 | negative regulation of Rho protein signal transduction | 19787194 |
| CCDC125 | GO:0090630 | activation of GTPase activity | 19787194 |
| CCDC125 | GO:2000146 | negative regulation of cell motility | 19787194 |
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Exon skipping events across known transcript of Ensembl for CCDC125 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 CCDC125 |
| 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 CCDC125 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_442489 | 5 | 68578716:68578861:68581163:68581294:68588014:68588174 | 68581163:68581294 | ENSG00000183323.8 | ENST00000511257.1,ENST00000396499.1,ENST00000396496.2 |
| exon_skip_442494 | 5 | 68581163:68581294:68588014:68588189:68590619:68590727 | 68588014:68588189 | ENSG00000183323.8 | ENST00000511257.1,ENST00000396499.1,ENST00000396496.2 |
| exon_skip_442496 | 5 | 68581163:68581294:68590619:68590727:68595838:68595954 | 68590619:68590727 | ENSG00000183323.8 | ENST00000460090.1 |
| exon_skip_442498 | 5 | 68588014:68588189:68590619:68590727:68595838:68595954 | 68590619:68590727 | ENSG00000183323.8 | ENST00000511257.1,ENST00000396499.1,ENST00000396496.2 |
| exon_skip_442499 | 5 | 68595838:68595954:68599673:68599756:68602643:68602729 | 68599673:68599756 | ENSG00000183323.8 | ENST00000511257.1,ENST00000383374.2,ENST00000396499.1,ENST00000396496.2 |
| exon_skip_442504 | 5 | 68599673:68599756:68602643:68602729:68603777:68603855 | 68602643:68602729 | ENSG00000183323.8 | ENST00000511257.1,ENST00000383374.2,ENST00000396499.1,ENST00000396496.2 |
| exon_skip_442509 | 5 | 68606944:68607031:68609811:68609870:68616063:68616172 | 68609811:68609870 | ENSG00000183323.8 | ENST00000511257.1,ENST00000383374.2 |
| exon_skip_442512 | 5 | 68606944:68607031:68609811:68609873:68616063:68616172 | 68609811:68609873 | ENSG00000183323.8 | ENST00000396499.1,ENST00000396496.2 |
| exon_skip_442518 | 5 | 68609811:68609870:68616063:68616172:68616291:68616407 | 68616063:68616172 | ENSG00000183323.8 | ENST00000511257.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC125 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_442489 | 5 | 68578716:68578861:68581163:68581294:68588014:68588174 | 68581163:68581294 | ENSG00000183323.8 | ENST00000396496.2,ENST00000396499.1,ENST00000511257.1 |
| exon_skip_442494 | 5 | 68581163:68581294:68588014:68588189:68590619:68590727 | 68588014:68588189 | ENSG00000183323.8 | ENST00000396496.2,ENST00000396499.1,ENST00000511257.1 |
| exon_skip_442496 | 5 | 68581163:68581294:68590619:68590727:68595838:68595954 | 68590619:68590727 | ENSG00000183323.8 | ENST00000460090.1 |
| exon_skip_442498 | 5 | 68588014:68588189:68590619:68590727:68595838:68595954 | 68590619:68590727 | ENSG00000183323.8 | ENST00000396496.2,ENST00000396499.1,ENST00000511257.1 |
| exon_skip_442499 | 5 | 68595838:68595954:68599673:68599756:68602643:68602729 | 68599673:68599756 | ENSG00000183323.8 | ENST00000396496.2,ENST00000396499.1,ENST00000383374.2,ENST00000511257.1 |
| exon_skip_442504 | 5 | 68599673:68599756:68602643:68602729:68603777:68603855 | 68602643:68602729 | ENSG00000183323.8 | ENST00000396496.2,ENST00000396499.1,ENST00000383374.2,ENST00000511257.1 |
| exon_skip_442509 | 5 | 68606944:68607031:68609811:68609870:68616063:68616172 | 68609811:68609870 | ENSG00000183323.8 | ENST00000383374.2,ENST00000511257.1 |
| exon_skip_442512 | 5 | 68606944:68607031:68609811:68609873:68616063:68616172 | 68609811:68609873 | ENSG00000183323.8 | ENST00000396496.2,ENST00000396499.1 |
| exon_skip_442518 | 5 | 68609811:68609870:68616063:68616172:68616291:68616407 | 68616063:68616172 | ENSG00000183323.8 | ENST00000511257.1 |
| 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 CCDC125 |
| 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 CCDC125 |
| 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 CCDC125 |
| - 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. |
CCDC125_SKCM_exon_skip_442509_psi_boxplot.png |
CCDC125_SKCM_exon_skip_442512_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-A1EG-01 | exon_skip_442494 | 68588015 | 68588189 | 68588055 | 68588055 | Frame_Shift_Del | T | - | p.K353fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_442494 | 68588015 | 68588189 | 68588055 | 68588055 | Frame_Shift_Del | T | - | p.K353fs |
| COAD | TCGA-AD-6964-01 | exon_skip_442494 | 68588015 | 68588189 | 68588101 | 68588101 | Frame_Shift_Del | T | - | p.N338fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_442499 | 68599674 | 68599756 | 68599710 | 68599710 | Frame_Shift_Del | T | - | p.T222fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_442499 | 68599674 | 68599756 | 68599751 | 68599751 | Frame_Shift_Del | T | - | p.N208fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_442504 | 68602644 | 68602729 | 68602652 | 68602652 | Frame_Shift_Del | T | - | p.K203fs |
| SKCM | TCGA-FR-A3YN-06 | exon_skip_442509 | 68609812 | 68609870 | 68609835 | 68609847 | Frame_Shift_Del | GCCTTAATTCTTC | - | p.111_115del |
| SKCM | TCGA-FR-A3YN-06 | exon_skip_442509 | 68609812 | 68609870 | 68609835 | 68609847 | Frame_Shift_Del | GCCTTAATTCTTC | - | p.EELRQ111fs |
| SKCM | TCGA-FR-A3YN-06 | exon_skip_442512 | 68609812 | 68609873 | 68609835 | 68609847 | Frame_Shift_Del | GCCTTAATTCTTC | - | p.111_115del |
| SKCM | TCGA-FR-A3YN-06 | exon_skip_442512 | 68609812 | 68609873 | 68609835 | 68609847 | Frame_Shift_Del | GCCTTAATTCTTC | - | p.EELRQ111fs |
| BRCA | TCGA-A2-A0YK-01 | exon_skip_442489 | 68581164 | 68581294 | 68581193 | 68581193 | Nonsense_Mutation | G | A | p.Q401* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_442489 | 68581164 | 68581294 | 68581211 | 68581211 | Nonsense_Mutation | C | A | p.E395* |
| KIRC | TCGA-B8-5159-01 | exon_skip_442489 | 68581164 | 68581294 | 68581285 | 68581285 | Nonsense_Mutation | G | C | p.S370* |
| KIRC | TCGA-B8-5159-01 | exon_skip_442489 | 68581164 | 68581294 | 68581285 | 68581285 | Nonsense_Mutation | G | C | p.S370X |
| BLCA | TCGA-DK-AA6T-01 | exon_skip_442494 | 68588015 | 68588189 | 68588043 | 68588043 | Nonsense_Mutation | C | T | p.W357* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_442504 | 68602644 | 68602729 | 68602702 | 68602702 | Nonsense_Mutation | C | A | p.E187* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-FR-A3YN-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_442512 | |
| Skipped exon start: 68609812 | |
| Skipped exon end: 68609873 | |
| Mutation start: 68609835 | |
| Mutation end: 68609847 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GCCTTAATTCTTC | |
| Mutation seq: - | |
| AAchange: p.111_115del | |
| Sample: TCGA-FR-A3YN-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_442509 | |
| Skipped exon start: 68609812 | |
| Skipped exon end: 68609870 | |
| Mutation start: 68609835 | |
| Mutation end: 68609847 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GCCTTAATTCTTC | |
| Mutation seq: - | |
| AAchange: p.111_115del | |
| Sample: TCGA-FR-A3YN-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_442512 | |
| Skipped exon start: 68609812 | |
| Skipped exon end: 68609873 | |
| Mutation start: 68609835 | |
| Mutation end: 68609847 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GCCTTAATTCTTC | |
| Mutation seq: - | |
| AAchange: p.EELRQ111fs | |
| Sample: TCGA-FR-A3YN-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_442509 | |
| Skipped exon start: 68609812 | |
| Skipped exon end: 68609870 | |
| Mutation start: 68609835 | |
| Mutation end: 68609847 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GCCTTAATTCTTC | |
| Mutation seq: - | |
| AAchange: p.EELRQ111fs | |
exon_skip_284733_SKCM_TCGA-FR-A3YN-06.png | |
exon_skip_442509_SKCM_TCGA-FR-A3YN-06.png | |
exon_skip_442512_SKCM_TCGA-FR-A3YN-06.png | |
 | Sample: TCGA-FR-A3YN-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_442512 | |
| Skipped exon start: 68609812 | |
| Skipped exon end: 68609873 | |
| Mutation start: 68609835 | |
| Mutation end: 68609847 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GCCTTAATTCTTC | |
| Mutation seq: - | |
| AAchange: p.111_115del | |
| Sample: TCGA-FR-A3YN-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_442509 | |
| Skipped exon start: 68609812 | |
| Skipped exon end: 68609870 | |
| Mutation start: 68609835 | |
| Mutation end: 68609847 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GCCTTAATTCTTC | |
| Mutation seq: - | |
| AAchange: p.111_115del | |
| Sample: TCGA-FR-A3YN-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_442512 | |
| Skipped exon start: 68609812 | |
| Skipped exon end: 68609873 | |
| Mutation start: 68609835 | |
| Mutation end: 68609847 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GCCTTAATTCTTC | |
| Mutation seq: - | |
| AAchange: p.EELRQ111fs | |
| Sample: TCGA-FR-A3YN-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_442509 | |
| Skipped exon start: 68609812 | |
| Skipped exon end: 68609870 | |
| Mutation start: 68609835 | |
| Mutation end: 68609847 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GCCTTAATTCTTC | |
| Mutation seq: - | |
| AAchange: p.EELRQ111fs | |
| exon_skip_284733_SKCM_TCGA-FR-A3YN-06.png | |
| exon_skip_442509_SKCM_TCGA-FR-A3YN-06.png | |
| exon_skip_442512_SKCM_TCGA-FR-A3YN-06.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 |
| A101D_SKIN | 68588015 | 68588189 | 68588100 | 68588101 | Frame_Shift_Ins | - | T | p.N338fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68588015 | 68588189 | 68588168 | 68588169 | Frame_Shift_Ins | - | G | p.K316fs |
| HEC251_ENDOMETRIUM | 68581164 | 68581294 | 68581222 | 68581222 | Missense_Mutation | G | T | p.S391Y |
| SNU520_STOMACH | 68590620 | 68590727 | 68590691 | 68590691 | Missense_Mutation | C | T | p.G285R |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68590620 | 68590727 | 68590715 | 68590715 | Missense_Mutation | C | T | p.G277R |
| BT483_BREAST | 68590620 | 68590727 | 68590723 | 68590723 | Missense_Mutation | G | A | p.A274V |
| RT4_URINARY_TRACT | 68590620 | 68590727 | 68590723 | 68590723 | Missense_Mutation | G | A | p.A274V |
| JHUEM7_ENDOMETRIUM | 68599674 | 68599756 | 68599726 | 68599726 | Missense_Mutation | C | A | p.E216D |
| CL34_LARGE_INTESTINE | 68599674 | 68599756 | 68599748 | 68599748 | Missense_Mutation | C | T | p.C209Y |
| HEC251_ENDOMETRIUM | 68602644 | 68602729 | 68602670 | 68602670 | Missense_Mutation | C | A | p.E197D |
| KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68616064 | 68616172 | 68616088 | 68616088 | Missense_Mutation | T | G | p.N94H |
| IHH4_THYROID | 68616064 | 68616172 | 68616114 | 68616114 | Missense_Mutation | G | A | p.T85I |
| SNU81_LARGE_INTESTINE | 68616064 | 68616172 | 68616162 | 68616162 | Missense_Mutation | C | T | p.R69K |
| HCET_UPPER_AERODIGESTIVE_TRACT | 68602644 | 68602729 | 68602649 | 68602649 | Nonsense_Mutation | A | C | p.Y204* |
| EN_ENDOMETRIUM | 68581164 | 68581294 | 68581164 | 68581164 | Splice_Site | C | A | p.L410F |
| 22RV1_PROSTATE | 68616064 | 68616172 | 68616065 | 68616065 | Splice_Site | A | G | p.T101T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC125 |
| 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 CCDC125 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC125 |
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RelatedDrugs for CCDC125 |
| 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 CCDC125 |
| 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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