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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 ZFC3H1 |
 Gene summary |
| Gene information | Gene symbol | ZFC3H1 | Gene ID | 196441 |
| Gene name | zinc finger C3H1-type containing | |
| Synonyms | CCDC131|CSRC2|PSRC2 | |
| Cytomap | 12q21.1 | |
| Type of gene | protein-coding | |
| Description | zinc finger C3H1 domain-containing proteincoiled-coil domain containing 131coiled-coil domain-containing protein 131proline/serine-rich coiled-coil 2proline/serine-rich coiled-coil protein 2 | |
| Modification date | 20180519 | |
| UniProtAcc | O60293 | |
| Context | PubMed: ZFC3H1 [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 ZFC3H1 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 ZFC3H1 |
| 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 ZFC3H1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_94711 | 12 | 72004474:72004537:72004837:72004877:72005565:72005667 | 72004837:72004877 | ENSG00000133858.11 | ENST00000378743.3 |
| exon_skip_94713 | 12 | 72008314:72008480:72008613:72008718:72008985:72009096 | 72008613:72008718 | ENSG00000133858.11 | ENST00000552994.1,ENST00000378743.3 |
| exon_skip_94715 | 12 | 72008985:72009096:72013094:72013189:72013705:72013745 | 72013094:72013189 | ENSG00000133858.11 | ENST00000552994.1,ENST00000378743.3,ENST00000546771.1 |
| exon_skip_94716 | 12 | 72013094:72013189:72013705:72013904:72013989:72014095 | 72013705:72013904 | ENSG00000133858.11 | ENST00000552994.1,ENST00000378743.3 |
| exon_skip_94717 | 12 | 72032197:72032295:72036215:72036339:72037874:72038098 | 72036215:72036339 | ENSG00000133858.11 | ENST00000552994.1,ENST00000378743.3 |
| exon_skip_94718 | 12 | 72037874:72038098:72038656:72038855:72041528:72041593 | 72038656:72038855 | ENSG00000133858.11 | ENST00000552994.1,ENST00000378743.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZFC3H1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_94711 | 12 | 72004474:72004537:72004837:72004877:72005565:72005667 | 72004837:72004877 | ENSG00000133858.11 | ENST00000378743.3 |
| exon_skip_94713 | 12 | 72008314:72008480:72008613:72008718:72008985:72009096 | 72008613:72008718 | ENSG00000133858.11 | ENST00000378743.3,ENST00000552994.1 |
| exon_skip_94715 | 12 | 72008985:72009096:72013094:72013189:72013705:72013745 | 72013094:72013189 | ENSG00000133858.11 | ENST00000378743.3,ENST00000552994.1,ENST00000546771.1 |
| exon_skip_94716 | 12 | 72013094:72013189:72013705:72013904:72013989:72014095 | 72013705:72013904 | ENSG00000133858.11 | ENST00000378743.3,ENST00000552994.1 |
| exon_skip_94717 | 12 | 72032197:72032295:72036215:72036339:72037874:72038098 | 72036215:72036339 | ENSG00000133858.11 | ENST00000378743.3,ENST00000552994.1 |
| exon_skip_94718 | 12 | 72037874:72038098:72038656:72038855:72041528:72041593 | 72038656:72038855 | ENSG00000133858.11 | ENST00000378743.3,ENST00000552994.1 |
| 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 ZFC3H1 |
| 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 |
| ENST00000378743 | 72004837 | 72004877 | Frame-shift |
| ENST00000378743 | 72013094 | 72013189 | Frame-shift |
| ENST00000378743 | 72013705 | 72013904 | Frame-shift |
| ENST00000378743 | 72036215 | 72036339 | Frame-shift |
| ENST00000378743 | 72038656 | 72038855 | Frame-shift |
| ENST00000378743 | 72008613 | 72008718 | 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 |
| ENST00000378743 | 72004837 | 72004877 | Frame-shift |
| ENST00000378743 | 72013094 | 72013189 | Frame-shift |
| ENST00000378743 | 72013705 | 72013904 | Frame-shift |
| ENST00000378743 | 72036215 | 72036339 | Frame-shift |
| ENST00000378743 | 72038656 | 72038855 | Frame-shift |
| ENST00000378743 | 72008613 | 72008718 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ZFC3H1 |
| 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 |
| ENST00000378743 | 7302 | 1989 | 72008613 | 72008718 | 5615 | 5719 | 1752 | 1786 |
| 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 |
| ENST00000378743 | 7302 | 1989 | 72008613 | 72008718 | 5615 | 5719 | 1752 | 1786 |
| 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 |
| O60293 | 1752 | 1786 | 347 | 1989 | Alternative sequence | ID=VSP_024993;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O60293 | 1752 | 1786 | 2 | 1989 | Chain | ID=PRO_0000286103;Note=Zinc finger C3H1 domain-containing protein |
| O60293 | 1752 | 1786 | 1745 | 1778 | Repeat | Note=TPR 7 |
| 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 |
| O60293 | 1752 | 1786 | 347 | 1989 | Alternative sequence | ID=VSP_024993;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O60293 | 1752 | 1786 | 2 | 1989 | Chain | ID=PRO_0000286103;Note=Zinc finger C3H1 domain-containing protein |
| O60293 | 1752 | 1786 | 1745 | 1778 | Repeat | Note=TPR 7 |
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SNVs in the skipped exons for ZFC3H1 |
| - 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. |
ZFC3H1_HNSC_exon_skip_94713_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-A39Y-01 | exon_skip_94715 | 72013095 | 72013189 | 72013097 | 72013097 | Frame_Shift_Del | A | - | p.F1714fs |
| PRAD | TCGA-EJ-7782-01 | exon_skip_94715 | 72013095 | 72013189 | 72013161 | 72013161 | Frame_Shift_Del | A | - | p.L1693fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_94716 | 72013706 | 72013904 | 72013735 | 72013735 | Frame_Shift_Del | A | - | p.Y1674fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_94716 | 72013706 | 72013904 | 72013758 | 72013758 | Frame_Shift_Del | T | - | p.N1666fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_94716 | 72013706 | 72013904 | 72013758 | 72013758 | Frame_Shift_Del | T | - | p.N1666fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_94717 | 72036216 | 72036339 | 72036228 | 72036228 | Frame_Shift_Del | T | - | p.T539fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_94718 | 72038657 | 72038855 | 72038687 | 72038687 | Frame_Shift_Del | T | - | p.T417fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_94718 | 72038657 | 72038855 | 72038706 | 72038706 | Frame_Shift_Del | T | - | p.K410fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_94718 | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.W386fs |
| STAD | TCGA-BR-4361-01 | exon_skip_94718 | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.K385fs |
| STAD | TCGA-BR-4361-01 | exon_skip_94718 | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.W386fs |
| STAD | TCGA-BR-8361-01 | exon_skip_94718 | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.K385fs |
| STAD | TCGA-BR-8361-01 | exon_skip_94718 | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.W386fs |
| STAD | TCGA-BR-8487-01 | exon_skip_94718 | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.K385fs |
| STAD | TCGA-BR-8487-01 | exon_skip_94718 | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.W386fs |
| STAD | TCGA-CG-4306-01 | exon_skip_94718 | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.W386fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_94718 | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.W386fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_94715 | 72013095 | 72013189 | 72013160 | 72013161 | Frame_Shift_Ins | - | A | p.S1693fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_94716 | 72013706 | 72013904 | 72013757 | 72013758 | Frame_Shift_Ins | - | T | p.T1666fs |
| COAD | TCGA-CK-5916-01 | exon_skip_94718 | 72038657 | 72038855 | 72038669 | 72038670 | Frame_Shift_Ins | - | T | p.V423fs |
| HNSC | TCGA-CQ-A4CD-01 | exon_skip_94713 | 72008614 | 72008718 | 72008698 | 72008698 | Nonsense_Mutation | G | T | p.S1759* |
| CESC | TCGA-EK-A2PL-01 | exon_skip_94718 | 72038657 | 72038855 | 72038798 | 72038798 | Nonsense_Mutation | G | A | p.Q380* |
| DLBC | TCGA-GS-A9TW-01 | exon_skip_94718 | 72038657 | 72038855 | 72038798 | 72038798 | Nonsense_Mutation | G | A | p.Q380X |
| LUAD | TCGA-75-5126-01 | exon_skip_94711 | 72004838 | 72004877 | 72004836 | 72004836 | Splice_Site | A | C | p.E1923_splice |
| PRAD | TCGA-G9-6356-01 | exon_skip_94717 | 72036216 | 72036339 | 72036214 | 72036214 | Splice_Site | A | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CQ-A4CD-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_94713 | |
| Skipped exon start: 72008614 | |
| Skipped exon end: 72008718 | |
| Mutation start: 72008698 | |
| Mutation end: 72008698 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.S1759* | |
exon_skip_94352_HNSC_TCGA-CQ-A4CD-01.png | |
exon_skip_94713_HNSC_TCGA-CQ-A4CD-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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 72036216 | 72036339 | 72036297 | 72036297 | Frame_Shift_Del | T | - | p.T516fs |
| HEC108_ENDOMETRIUM | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.K385fs |
| HEC59_ENDOMETRIUM | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.K385fs |
| LS180_LARGE_INTESTINE | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.K385fs |
| CAL51_BREAST | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.K385fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 72038657 | 72038855 | 72038781 | 72038781 | Frame_Shift_Del | T | - | p.K385fs |
| JHUEM3_ENDOMETRIUM | 72013706 | 72013904 | 72013734 | 72013735 | Frame_Shift_Ins | - | A | p.Y1674fs |
| MDAPCA2B_PROSTATE | 72013706 | 72013904 | 72013734 | 72013735 | Frame_Shift_Ins | - | A | p.Y1674fs |
| SKUT1_SOFT_TISSUE | 72038657 | 72038855 | 72038669 | 72038670 | Frame_Shift_Ins | - | T | p.V423fs |
| RH41_SOFT_TISSUE | 72004838 | 72004877 | 72004869 | 72004869 | Missense_Mutation | G | C | p.A1913G |
| RH4_SOFT_TISSUE | 72004838 | 72004877 | 72004869 | 72004869 | Missense_Mutation | G | C | p.A1913G |
| TC205_BONE | 72008614 | 72008718 | 72008651 | 72008651 | Missense_Mutation | C | T | p.A1775T |
| HCC2450_LUNG | 72013095 | 72013189 | 72013185 | 72013185 | Missense_Mutation | C | T | p.R1685Q |
| VMRCRCZ_KIDNEY | 72013706 | 72013904 | 72013741 | 72013741 | Missense_Mutation | C | T | p.V1672I |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 72013706 | 72013904 | 72013825 | 72013825 | Missense_Mutation | C | T | p.A1644T |
| HEC59_ENDOMETRIUM | 72013706 | 72013904 | 72013897 | 72013897 | Missense_Mutation | C | T | p.A1620T |
| SUM159PT_BREAST | 72036216 | 72036339 | 72036272 | 72036272 | Missense_Mutation | T | C | p.Q524R |
| OVK18_OVARY | 72038657 | 72038855 | 72038712 | 72038712 | Missense_Mutation | C | A | p.Q408H |
| CW2_LARGE_INTESTINE | 72038657 | 72038855 | 72038719 | 72038719 | Missense_Mutation | G | A | p.T406I |
| SNU1040_LARGE_INTESTINE | 72036216 | 72036339 | 72036318 | 72036318 | Nonsense_Mutation | G | A | p.R509* |
| MZ7MEL_SKIN | 72036216 | 72036339 | 72036216 | 72036216 | Splice_Site | C | T | p.A543T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZFC3H1 |
| 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 ZFC3H1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZFC3H1 |
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RelatedDrugs for ZFC3H1 |
| 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 ZFC3H1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ZFC3H1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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