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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 ZCCHC4 |
Gene summary |
| Gene information | Gene symbol | ZCCHC4 | Gene ID | 29063 |
| Gene name | zinc finger CCHC-type containing 4 | |
| Synonyms | HSPC052|ZGRF4 | |
| Cytomap | 4p15.2 | |
| Type of gene | protein-coding | |
| Description | zinc finger CCHC domain-containing protein 4DHHC domain-containing zinc finger proteinzinc finger, CCHC domain containing 4zinc finger, GRF-type containing 4 | |
| Modification date | 20180329 | |
| UniProtAcc | Q9H5U6 | |
| Context | PubMed: ZCCHC4 [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 ZCCHC4 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 ZCCHC4 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ZCCHC4 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_422825 | 4 | 25314416:25314558:25315667:25315786:25316939:25317022 | 25315667:25315786 | ENSG00000168228.10 | ENST00000302874.4,ENST00000507760.1 |
| exon_skip_422826 | 4 | 25335529:25335610:25347169:25347242:25351113:25351264 | 25347169:25347242 | ENSG00000168228.10 | ENST00000505412.1,ENST00000505451.1,ENST00000302874.4 |
| exon_skip_422830 | 4 | 25351113:25351264:25353210:25353311:25363480:25363602 | 25353210:25353311 | ENSG00000168228.10 | ENST00000505412.1,ENST00000302874.4 |
| exon_skip_422834 | 4 | 25366075:25366127:25366643:25366694:25370650:25371648 | 25366643:25366694 | ENSG00000168228.10 | ENST00000505412.1 |
| exon_skip_422837 | 4 | 25366075:25366127:25366643:25366788:25370650:25371648 | 25366643:25366788 | ENSG00000168228.10 | ENST00000302874.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZCCHC4 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_422825 | 4 | 25314416:25314558:25315667:25315786:25316939:25317022 | 25315667:25315786 | ENSG00000168228.10 | ENST00000302874.4,ENST00000507760.1 |
| exon_skip_422826 | 4 | 25335529:25335610:25347169:25347242:25351113:25351264 | 25347169:25347242 | ENSG00000168228.10 | ENST00000505451.1,ENST00000302874.4,ENST00000505412.1 |
| exon_skip_422830 | 4 | 25351113:25351264:25353210:25353311:25363480:25363602 | 25353210:25353311 | ENSG00000168228.10 | ENST00000302874.4,ENST00000505412.1 |
| exon_skip_422834 | 4 | 25366075:25366127:25366643:25366694:25370650:25371648 | 25366643:25366694 | ENSG00000168228.10 | ENST00000505412.1 |
| exon_skip_422837 | 4 | 25366075:25366127:25366643:25366788:25370650:25371648 | 25366643:25366788 | ENSG00000168228.10 | ENST00000302874.4 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ZCCHC4 |
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 |
| ENST00000302874 | 25315667 | 25315786 | Frame-shift |
| ENST00000302874 | 25347169 | 25347242 | Frame-shift |
| ENST00000302874 | 25353210 | 25353311 | Frame-shift |
| ENST00000302874 | 25366643 | 25366788 | Frame-shift |
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 |
| ENST00000302874 | 25315667 | 25315786 | Frame-shift |
| ENST00000302874 | 25347169 | 25347242 | Frame-shift |
| ENST00000302874 | 25353210 | 25353311 | Frame-shift |
| ENST00000302874 | 25366643 | 25366788 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ZCCHC4 |
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 ZCCHC4 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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-G3-A3CJ-01 | exon_skip_422825 | 25315668 | 25315786 | 25315703 | 25315703 | Frame_Shift_Del | A | - | p.K55fs |
| KICH | TCGA-KL-8342-01 | exon_skip_422830 | 25353211 | 25353311 | 25353254 | 25353254 | Frame_Shift_Del | T | - | p.Y318fs |
| STAD | TCGA-BR-8059-01 | exon_skip_422830 | 25353211 | 25353311 | 25353254 | 25353254 | Frame_Shift_Del | T | - | p.Y318fs |
| STAD | TCGA-CG-5726-01 | exon_skip_422830 | 25353211 | 25353311 | 25353254 | 25353254 | Frame_Shift_Del | T | - | p.Y318fs |
| UCEC | TCGA-AP-A05N-01 | exon_skip_422830 | 25353211 | 25353311 | 25353254 | 25353254 | Frame_Shift_Del | T | - | p.Y318fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_422837 | 25366644 | 25366788 | 25366702 | 25366702 | Frame_Shift_Del | C | - | p.G440fs |
| STAD | TCGA-BR-8680-01 | exon_skip_422825 | 25315668 | 25315786 | 25315706 | 25315706 | Nonsense_Mutation | G | T | p.E56* |
- 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 |
| PACADD137_PANCREAS | 25353211 | 25353311 | 25353254 | 25353254 | Frame_Shift_Del | T | - | p.Y318fs |
| SNU324_PANCREAS | 25353211 | 25353311 | 25353254 | 25353254 | Frame_Shift_Del | T | - | p.Y318fs |
| NUGC3_STOMACH | 25353211 | 25353311 | 25353254 | 25353254 | Frame_Shift_Del | T | - | p.Y318fs |
| RL952_ENDOMETRIUM | 25353211 | 25353311 | 25353254 | 25353254 | Frame_Shift_Del | T | - | p.Y318fs |
| CW2_LARGE_INTESTINE | 25353211 | 25353311 | 25353279 | 25353279 | Frame_Shift_Del | T | - | p.F328fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 25353211 | 25353311 | 25353295 | 25353296 | Frame_Shift_Del | AG | - | p.Q332fs |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25315668 | 25315786 | 25315761 | 25315762 | Frame_Shift_Ins | - | T | p.NF74fs |
| LS411N_LARGE_INTESTINE | 25353211 | 25353311 | 25353253 | 25353254 | Frame_Shift_Ins | - | T | p.YF318fs |
| HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25353211 | 25353311 | 25353278 | 25353279 | Frame_Shift_Ins | - | T | p.F327fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 25353211 | 25353311 | 25353293 | 25353294 | Frame_Shift_Ins | - | TG | p.Q332fs |
| KPNYN_AUTONOMIC_GANGLIA | 25315668 | 25315786 | 25315676 | 25315676 | Missense_Mutation | C | T | p.L46F |
| HEC1A_ENDOMETRIUM | 25315668 | 25315786 | 25315731 | 25315731 | Missense_Mutation | G | A | p.C64Y |
| HEC1_ENDOMETRIUM | 25315668 | 25315786 | 25315731 | 25315731 | Missense_Mutation | G | A | p.C64Y |
| EN_ENDOMETRIUM | 25315668 | 25315786 | 25315761 | 25315761 | Missense_Mutation | A | T | p.N74I |
| HEC108_ENDOMETRIUM | 25347170 | 25347242 | 25347198 | 25347198 | Missense_Mutation | T | C | p.F239L |
| MFE319_ENDOMETRIUM | 25347170 | 25347242 | 25347213 | 25347213 | Missense_Mutation | A | G | p.M244V |
| LS411N_LARGE_INTESTINE | 25353211 | 25353311 | 25353246 | 25353246 | Missense_Mutation | T | C | p.F316L |
| SEKI_SKIN | 25353211 | 25353311 | 25353252 | 25353252 | Missense_Mutation | T | A | p.Y318N |
| SNU1040_LARGE_INTESTINE | 25366644 | 25366694 | 25366665 | 25366665 | Missense_Mutation | G | A | p.C428Y |
| SNU1040_LARGE_INTESTINE | 25366644 | 25366788 | 25366665 | 25366665 | Missense_Mutation | G | A | p.C428Y |
| KMH2_THYROID | 25366644 | 25366694 | 25366679 | 25366679 | Missense_Mutation | G | A | p.V433I |
| KMH2_THYROID | 25366644 | 25366788 | 25366679 | 25366679 | Missense_Mutation | G | A | p.V433I |
| MZ2MEL_SKIN | 25366644 | 25366788 | 25366703 | 25366703 | Missense_Mutation | C | G | p.P441A |
| HCC1143_MATCHED_NORMAL_TISSUE | 25366644 | 25366788 | 25366703 | 25366703 | Missense_Mutation | C | G | p.P441A |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25366644 | 25366788 | 25366737 | 25366737 | Missense_Mutation | A | G | p.D452G |
| SNU1040_LARGE_INTESTINE | 25366644 | 25366788 | 25366746 | 25366746 | Missense_Mutation | G | A | p.R455H |
| KMRC2_KIDNEY | 25353211 | 25353311 | 25353211 | 25353211 | Splice_Site | A | G | p.D304G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZCCHC4 |
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 ZCCHC4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZCCHC4 |
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RelatedDrugs for ZCCHC4 |
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 ZCCHC4 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |