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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 ZCCHC14 |
 Gene summary |
| Gene information | Gene symbol | ZCCHC14 | Gene ID | 23174 |
| Gene name | zinc finger CCHC-type containing 14 | |
| Synonyms | BDG-29|BDG29 | |
| Cytomap | 16q24.2 | |
| Type of gene | protein-coding | |
| Description | zinc finger CCHC domain-containing protein 14zinc finger, CCHC domain containing 14 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8WYQ9 | |
| Context | PubMed: ZCCHC14 [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 ZCCHC14 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 ZCCHC14 |
| 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 ZCCHC14 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_146729 | 16 | 87445121:87446582:87446660:87446801:87448019:87448147 | 87446660:87446801 | ENSG00000140948.7 | ENST00000268616.4,ENST00000568020.1,ENST00000561928.1 |
| exon_skip_146733 | 16 | 87446660:87446801:87448019:87448147:87448881:87448973 | 87448019:87448147 | ENSG00000140948.7 | ENST00000268616.4,ENST00000568020.1,ENST00000561928.1 |
| exon_skip_146736 | 16 | 87448019:87448147:87448881:87448973:87451065:87451348 | 87448881:87448973 | ENSG00000140948.7 | ENST00000268616.4,ENST00000568020.1,ENST00000561928.1 |
| exon_skip_146740 | 16 | 87453388:87453483:87454212:87454322:87457415:87457487 | 87454212:87454322 | ENSG00000140948.7 | ENST00000268616.4,ENST00000568020.1,ENST00000561928.1 |
| exon_skip_146741 | 16 | 87457415:87457487:87466733:87466807:87493613:87493737 | 87466733:87466807 | ENSG00000140948.7 | ENST00000268616.4,ENST00000568020.1 |
| exon_skip_146742 | 16 | 87466733:87466807:87493613:87493737:87525274:87525465 | 87493613:87493737 | ENSG00000140948.7 | ENST00000568020.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZCCHC14 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_146729 | 16 | 87445121:87446582:87446660:87446801:87448019:87448147 | 87446660:87446801 | ENSG00000140948.7 | ENST00000268616.4,ENST00000568020.1,ENST00000561928.1 |
| exon_skip_146733 | 16 | 87446660:87446801:87448019:87448147:87448881:87448973 | 87448019:87448147 | ENSG00000140948.7 | ENST00000268616.4,ENST00000568020.1,ENST00000561928.1 |
| exon_skip_146736 | 16 | 87448019:87448147:87448881:87448973:87451065:87451348 | 87448881:87448973 | ENSG00000140948.7 | ENST00000268616.4,ENST00000568020.1,ENST00000561928.1 |
| exon_skip_146740 | 16 | 87453388:87453483:87454212:87454322:87457415:87457487 | 87454212:87454322 | ENSG00000140948.7 | ENST00000268616.4,ENST00000568020.1,ENST00000561928.1 |
| exon_skip_146741 | 16 | 87457415:87457487:87466733:87466807:87493613:87493737 | 87466733:87466807 | ENSG00000140948.7 | ENST00000268616.4,ENST00000568020.1 |
| 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 ZCCHC14 |
| 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 |
| ENST00000268616 | 87448019 | 87448147 | Frame-shift |
| ENST00000268616 | 87448881 | 87448973 | Frame-shift |
| ENST00000268616 | 87454212 | 87454322 | Frame-shift |
| ENST00000268616 | 87466733 | 87466807 | Frame-shift |
| ENST00000268616 | 87446660 | 87446801 | 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 |
| ENST00000268616 | 87448019 | 87448147 | Frame-shift |
| ENST00000268616 | 87448881 | 87448973 | Frame-shift |
| ENST00000268616 | 87454212 | 87454322 | Frame-shift |
| ENST00000268616 | 87466733 | 87466807 | Frame-shift |
| ENST00000268616 | 87446660 | 87446801 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ZCCHC14 |
| 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 |
| ENST00000268616 | 7119 | 949 | 87446660 | 87446801 | 1411 | 1551 | 397 | 444 |
| 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 |
| ENST00000268616 | 7119 | 949 | 87446660 | 87446801 | 1411 | 1551 | 397 | 444 |
| 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 |
| Q8WYQ9 | 397 | 444 | 1 | 949 | Chain | ID=PRO_0000150975;Note=Zinc finger CCHC domain-containing protein 14 |
| Q8WYQ9 | 397 | 444 | 420 | 425 | Compositional bias | Note=Poly-Ser |
| 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 |
| Q8WYQ9 | 397 | 444 | 1 | 949 | Chain | ID=PRO_0000150975;Note=Zinc finger CCHC domain-containing protein 14 |
| Q8WYQ9 | 397 | 444 | 420 | 425 | Compositional bias | Note=Poly-Ser |
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SNVs in the skipped exons for ZCCHC14 |
| - 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. |
ZCCHC14_COAD_exon_skip_146733_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 |
| UCEC | TCGA-BS-A0UM-01 | exon_skip_146736 | 87448882 | 87448973 | 87448919 | 87448919 | Frame_Shift_Del | C | - | p.A343fs |
| COAD | TCGA-CM-4746-01 | exon_skip_146741 | 87466734 | 87466807 | 87466762 | 87466762 | Frame_Shift_Del | T | - | p.N110fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_146741 | 87466734 | 87466807 | 87466762 | 87466762 | Frame_Shift_Del | T | - | p.N110fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_146741 | 87466734 | 87466807 | 87466762 | 87466762 | Frame_Shift_Del | T | - | p.N110fs |
| KIRC | TCGA-CJ-5681-01 | exon_skip_146742 | 87493614 | 87493737 | 87493617 | 87493621 | Frame_Shift_Del | TGCTG | - | p.93_94del |
| CHOL | TCGA-W5-AA36-01 | exon_skip_146733 | 87448020 | 87448147 | 87448149 | 87448149 | Splice_Site | T | C | . |
| COAD | TCGA-AD-5900-01 | exon_skip_146733 | 87448020 | 87448147 | 87448149 | 87448149 | Splice_Site | T | A | . |
| GBM | TCGA-12-0821-01 | exon_skip_146736 | 87448882 | 87448973 | 87448975 | 87448975 | Splice_Site | T | G | p.F325_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AD-5900-01 |
| Cancer type: COAD | |
| ESID: exon_skip_146733 | |
| Skipped exon start: 87448020 | |
| Skipped exon end: 87448147 | |
| Mutation start: 87448149 | |
| Mutation end: 87448149 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_123601_COAD_TCGA-AD-5900-01.png | |
exon_skip_135806_COAD_TCGA-AD-5900-01.png | |
exon_skip_146733_COAD_TCGA-AD-5900-01.png | |
exon_skip_291928_COAD_TCGA-AD-5900-01.png | |
exon_skip_303809_COAD_TCGA-AD-5900-01.png | |
exon_skip_315782_COAD_TCGA-AD-5900-01.png | |
exon_skip_367235_COAD_TCGA-AD-5900-01.png | |
exon_skip_376149_COAD_TCGA-AD-5900-01.png | |
exon_skip_457524_COAD_TCGA-AD-5900-01.png | |
exon_skip_459148_COAD_TCGA-AD-5900-01.png | |
exon_skip_68768_COAD_TCGA-AD-5900-01.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 |
| SNUC2A_LARGE_INTESTINE | 87446661 | 87446801 | 87446709 | 87446709 | Frame_Shift_Del | C | - | p.V429fs |
| SNUC2B_LARGE_INTESTINE | 87446661 | 87446801 | 87446709 | 87446709 | Frame_Shift_Del | C | - | p.V429fs |
| C33A_CERVIX | 87466734 | 87466807 | 87466762 | 87466762 | Frame_Shift_Del | T | - | p.N110fs |
| MDAMB361_BREAST | 87466734 | 87466807 | 87466761 | 87466762 | Frame_Shift_Ins | - | T | p.N110fs |
| TE8_OESOPHAGUS | 87466734 | 87466807 | 87466761 | 87466762 | Frame_Shift_Ins | - | T | p.N110fs |
| HEC59_ENDOMETRIUM | 87446661 | 87446801 | 87446796 | 87446796 | Missense_Mutation | G | A | p.R400W |
| RKO_LARGE_INTESTINE | 87448020 | 87448147 | 87448044 | 87448044 | Missense_Mutation | A | G | p.S390P |
| LB771HNC_UPPER_AERODIGESTIVE_TRACT | 87448020 | 87448147 | 87448065 | 87448065 | Missense_Mutation | T | G | p.S383R |
| RXF393_KIDNEY | 87448020 | 87448147 | 87448065 | 87448065 | Missense_Mutation | T | G | p.S383R |
| COLO668_LUNG | 87448020 | 87448147 | 87448092 | 87448092 | Missense_Mutation | T | C | p.S374G |
| CAR1_LARGE_INTESTINE | 87448020 | 87448147 | 87448115 | 87448115 | Missense_Mutation | G | A | p.S366L |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87448020 | 87448147 | 87448130 | 87448130 | Missense_Mutation | C | T | p.R361Q |
| JEG3_PLACENTA | 87454213 | 87454322 | 87454219 | 87454219 | Missense_Mutation | C | T | p.G178D |
| LNCAPCLONEFGC_PROSTATE | 87454213 | 87454322 | 87454297 | 87454297 | Missense_Mutation | T | C | p.N152S |
| KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87493614 | 87493737 | 87493689 | 87493689 | Missense_Mutation | C | G | p.E70Q |
| A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87493614 | 87493737 | 87493695 | 87493695 | Missense_Mutation | T | C | p.S68G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZCCHC14 |
| 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 ZCCHC14 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZCCHC14 |
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RelatedDrugs for ZCCHC14 |
| 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 ZCCHC14 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ZCCHC14 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
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