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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 ZC2HC1A |
 Gene summary |
| Gene information | Gene symbol | ZC2HC1A | Gene ID | 51101 |
| Gene name | zinc finger C2HC-type containing 1A | |
| Synonyms | C8orf70|CGI-62|FAM164A | |
| Cytomap | 8q21.13 | |
| Type of gene | protein-coding | |
| Description | zinc finger C2HC domain-containing protein 1Afamily with sequence similarity 164, member Aprotein FAM164A | |
| Modification date | 20180522 | |
| UniProtAcc | Q96GY0 | |
| Context | PubMed: ZC2HC1A [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 ZC2HC1A 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 ZC2HC1A |
| 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 ZC2HC1A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_484179 | 8 | 79578363:79578399:79588021:79588098:79590797:79590914 | 79588021:79588098 | ENSG00000104427.7 | ENST00000521873.1 |
| exon_skip_484181 | 8 | 79590797:79590914:79598701:79598843:79601456:79601608 | 79598701:79598843 | ENSG00000104427.7 | ENST00000521176.1,ENST00000263849.4 |
| exon_skip_484184 | 8 | 79601456:79601608:79609641:79609741:79610648:79610748 | 79609641:79609741 | ENSG00000104427.7 | ENST00000263849.4 |
| exon_skip_484188 | 8 | 79610660:79610748:79624224:79624341:79627455:79627563 | 79624224:79624341 | ENSG00000104427.7 | ENST00000519307.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZC2HC1A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_484179 | 8 | 79578363:79578399:79588021:79588098:79590797:79590914 | 79588021:79588098 | ENSG00000104427.7 | ENST00000521873.1 |
| exon_skip_484181 | 8 | 79590797:79590914:79598701:79598843:79601456:79601608 | 79598701:79598843 | ENSG00000104427.7 | ENST00000263849.4,ENST00000521176.1 |
| exon_skip_484184 | 8 | 79601456:79601608:79609641:79609741:79610648:79610748 | 79609641:79609741 | ENSG00000104427.7 | ENST00000263849.4 |
| exon_skip_484188 | 8 | 79610660:79610748:79624224:79624341:79627455:79627563 | 79624224:79624341 | ENSG00000104427.7 | ENST00000519307.1 |
| 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 ZC2HC1A |
| 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 |
| ENST00000263849 | 79598701 | 79598843 | Frame-shift |
| ENST00000263849 | 79609641 | 79609741 | 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 |
| ENST00000263849 | 79598701 | 79598843 | Frame-shift |
| ENST00000263849 | 79609641 | 79609741 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ZC2HC1A |
| 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 ZC2HC1A |
| - 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. |
| - 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 |
| SKCM | TCGA-D3-A2JB-06 | exon_skip_484181 | 79598702 | 79598843 | 79598774 | 79598775 | Frame_Shift_Del | AA | - | p.K95fs |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_484181 | 79598702 | 79598843 | 79598747 | 79598747 | Nonsense_Mutation | G | T | p.E86* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_484181 | 79598702 | 79598843 | 79598747 | 79598747 | Nonsense_Mutation | G | T | p.E86* |
| ESCA | TCGA-LN-A4A3-01 | exon_skip_484184 | 79609642 | 79609741 | 79609678 | 79609678 | Nonsense_Mutation | G | T | p.G181* |
| - 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 |
| AGS_STOMACH | 79598702 | 79598843 | 79598729 | 79598729 | Missense_Mutation | T | A | p.W80R |
| CW2_LARGE_INTESTINE | 79598702 | 79598843 | 79598798 | 79598798 | Missense_Mutation | G | A | p.E103K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZC2HC1A |
| 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 ZC2HC1A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZC2HC1A |
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RelatedDrugs for ZC2HC1A |
| 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 ZC2HC1A |
| 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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