|
Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for ZSCAN20 |
Gene summary |
Gene information | Gene symbol | ZSCAN20 | Gene ID | 7579 |
Gene name | zinc finger and SCAN domain containing 20 | |
Synonyms | KOX29|ZFP-31|ZNF31|ZNF360 | |
Cytomap | 1p35.1 | |
Type of gene | protein-coding | |
Description | zinc finger and SCAN domain-containing protein 20zinc finger protein 31zinc finger protein 360zinc finger protein KOX29 | |
Modification date | 20180523 | |
UniProtAcc | P17040 | |
Context | PubMed: ZSCAN20 [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 |
Top |
Exon skipping events across known transcript of Ensembl for ZSCAN20 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. |
Top |
Gene isoform structures and expression levels for ZSCAN20 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for ZSCAN20 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_4108 | 1 | 33938260:33938292:33944779:33945306:33954064:33954251 | 33944779:33945306 | ENSG00000121903.10 | ENST00000373413.2,ENST00000480917.1 |
exon_skip_4109 | 1 | 33954064:33954251:33954714:33954791:33955117:33955202 | 33954714:33954791 | ENSG00000121903.10 | ENST00000361328.3 |
exon_skip_4112 | 1 | 33954714:33954791:33955117:33955202:33956624:33957302 | 33955117:33955202 | ENSG00000121903.10 | ENST00000361328.3 |
exon_skip_4113 | 1 | 33956624:33957302:33958786:33959215:33959817:33962107 | 33958786:33959215 | ENSG00000121903.10 | ENST00000361328.3 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for ZSCAN20 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_4109 | 1 | 33954064:33954251:33954714:33954791:33955117:33955202 | 33954714:33954791 | ENSG00000121903.10 | ENST00000361328.3 |
exon_skip_4112 | 1 | 33954714:33954791:33955117:33955202:33956624:33957302 | 33955117:33955202 | ENSG00000121903.10 | ENST00000361328.3 |
exon_skip_4113 | 1 | 33956624:33957302:33958786:33959215:33959817:33962107 | 33958786:33959215 | ENSG00000121903.10 | ENST00000361328.3 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ZSCAN20 |
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 |
ENST00000361328 | 33954714 | 33954791 | Frame-shift |
ENST00000361328 | 33955117 | 33955202 | Frame-shift |
ENST00000361328 | 33958786 | 33959215 | 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 |
ENST00000361328 | 33954714 | 33954791 | Frame-shift |
ENST00000361328 | 33955117 | 33955202 | Frame-shift |
ENST00000361328 | 33958786 | 33959215 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ZSCAN20 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000361328 | 4333 | 1043 | 33958786 | 33959215 | 1598 | 2026 | 481 | 624 |
ENST00000361328 | 4333 | 1043 | 33958786 | 33959215 | 1598 | 2026 | 481 | 624 |
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 |
ENST00000361328 | 4333 | 1043 | 33958786 | 33959215 | 1598 | 2026 | 481 | 624 |
ENST00000361328 | 4333 | 1043 | 33958786 | 33959215 | 1598 | 2026 | 481 | 624 |
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 |
P17040 | 481 | 624 | 482 | 487 | Alternative sequence | ID=VSP_036737;Note=In isoform 4. AGVHWG->GKNMGV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
P17040 | 481 | 624 | 482 | 487 | Alternative sequence | ID=VSP_036737;Note=In isoform 4. AGVHWG->GKNMGV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
P17040 | 481 | 624 | 482 | 482 | Alternative sequence | ID=VSP_036738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P17040 | 481 | 624 | 482 | 482 | Alternative sequence | ID=VSP_036738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P17040 | 481 | 624 | 488 | 1043 | Alternative sequence | ID=VSP_036739;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
P17040 | 481 | 624 | 488 | 1043 | Alternative sequence | ID=VSP_036739;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
P17040 | 481 | 624 | 1 | 1043 | Chain | ID=PRO_0000047360;Note=Zinc finger and SCAN domain-containing protein 20 |
P17040 | 481 | 624 | 1 | 1043 | Chain | ID=PRO_0000047360;Note=Zinc finger and SCAN domain-containing protein 20 |
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 |
P17040 | 481 | 624 | 482 | 487 | Alternative sequence | ID=VSP_036737;Note=In isoform 4. AGVHWG->GKNMGV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
P17040 | 481 | 624 | 482 | 487 | Alternative sequence | ID=VSP_036737;Note=In isoform 4. AGVHWG->GKNMGV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
P17040 | 481 | 624 | 482 | 482 | Alternative sequence | ID=VSP_036738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P17040 | 481 | 624 | 482 | 482 | Alternative sequence | ID=VSP_036738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P17040 | 481 | 624 | 488 | 1043 | Alternative sequence | ID=VSP_036739;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
P17040 | 481 | 624 | 488 | 1043 | Alternative sequence | ID=VSP_036739;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
P17040 | 481 | 624 | 1 | 1043 | Chain | ID=PRO_0000047360;Note=Zinc finger and SCAN domain-containing protein 20 |
P17040 | 481 | 624 | 1 | 1043 | Chain | ID=PRO_0000047360;Note=Zinc finger and SCAN domain-containing protein 20 |
Top |
SNVs in the skipped exons for ZSCAN20 |
- 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-DD-A39Y-01 | exon_skip_4108 | 33944780 | 33945306 | 33945082 | 33945082 | Frame_Shift_Del | C | - | p.P65fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_4113 | 33958787 | 33959215 | 33959019 | 33959019 | Frame_Shift_Del | C | - | p.C559fs |
THYM | TCGA-XU-A92X-01 | exon_skip_4108 | 33944780 | 33945306 | 33944929 | 33944929 | Nonsense_Mutation | C | T | p.Q14X |
BLCA | TCGA-ZF-AA4R-01 | exon_skip_4108 | 33944780 | 33945306 | 33944984 | 33944984 | Nonsense_Mutation | C | G | p.S32* |
LUSC | TCGA-66-2742-01 | exon_skip_4108 | 33944780 | 33945306 | 33945088 | 33945088 | Nonsense_Mutation | G | T | p.E67* |
- 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 |
NCIH630_LARGE_INTESTINE | 33944780 | 33945306 | 33944914 | 33944914 | Missense_Mutation | G | A | p.A9T |
DV90_LUNG | 33944780 | 33945306 | 33944988 | 33944988 | Missense_Mutation | A | T | p.E33D |
639V_URINARY_TRACT | 33944780 | 33945306 | 33945041 | 33945041 | Missense_Mutation | G | A | p.R51H |
SEKI_SKIN | 33944780 | 33945306 | 33945096 | 33945096 | Missense_Mutation | C | A | p.F69L |
SNU1040_LARGE_INTESTINE | 33944780 | 33945306 | 33945138 | 33945138 | Missense_Mutation | G | T | p.E83D |
HEC59_ENDOMETRIUM | 33944780 | 33945306 | 33945170 | 33945170 | Missense_Mutation | T | G | p.L94R |
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33944780 | 33945306 | 33945172 | 33945172 | Missense_Mutation | G | A | p.V95M |
SNU738_CENTRAL_NERVOUS_SYSTEM | 33944780 | 33945306 | 33945227 | 33945227 | Missense_Mutation | C | T | p.A113V |
SNUC4_LARGE_INTESTINE | 33954715 | 33954791 | 33954759 | 33954759 | Missense_Mutation | G | A | p.V217I |
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33955118 | 33955202 | 33955169 | 33955169 | Missense_Mutation | C | T | p.P245S |
MDAMB435S_SKIN | 33958787 | 33959215 | 33958809 | 33958809 | Missense_Mutation | G | C | p.E489D |
C33A_CERVIX | 33958787 | 33959215 | 33958816 | 33958816 | Missense_Mutation | A | G | p.K492E |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33958787 | 33959215 | 33958903 | 33958903 | Missense_Mutation | G | T | p.A521S |
HEC251_ENDOMETRIUM | 33958787 | 33959215 | 33958919 | 33958919 | Missense_Mutation | C | T | p.A526V |
NCIH1341_LUNG | 33958787 | 33959215 | 33958942 | 33958942 | Missense_Mutation | G | C | p.E534Q |
127399_SOFT_TISSUE | 33958787 | 33959215 | 33958951 | 33958951 | Missense_Mutation | C | T | p.R537C |
SNU308_BILIARY_TRACT | 33958787 | 33959215 | 33958967 | 33958967 | Missense_Mutation | A | G | p.N542S |
CORL88_LUNG | 33958787 | 33959215 | 33958985 | 33958985 | Missense_Mutation | G | T | p.R548L |
2313287_STOMACH | 33958787 | 33959215 | 33959052 | 33959052 | Missense_Mutation | G | T | p.R570S |
PK45H_PANCREAS | 33958787 | 33959215 | 33959095 | 33959095 | Missense_Mutation | G | A | p.A585T |
NCIH660_PROSTATE | 33958787 | 33959215 | 33959108 | 33959108 | Missense_Mutation | G | C | p.R589T |
HCC1569_BREAST | 33958787 | 33959215 | 33959152 | 33959152 | Missense_Mutation | G | C | p.G604R |
PANC0813_PANCREAS | 33958787 | 33959215 | 33959086 | 33959086 | Nonsense_Mutation | C | T | p.R582* |
NCIH2227_LUNG | 33958787 | 33959215 | 33959116 | 33959116 | Nonsense_Mutation | C | T | p.Q592* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZSCAN20 |
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 |
exon_skip_4108 | 1 | 33938260:33938292:33944779:33945306:33954064:33954251 | 33944779:33945306 | ENST00000373413.2,ENST00000480917.1 | PRAD | rs16835507 | chr1:33945192 | A/T | 1.30e-04 |
exon_skip_4108 | 1 | 33938260:33938292:33944779:33945306:33954064:33954251 | 33944779:33945306 | ENST00000373413.2,ENST00000480917.1 | PRAD | rs16835507 | chr1:33945192 | A/T | 1.30e-04 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZSCAN20 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZSCAN20 |
Top |
RelatedDrugs for ZSCAN20 |
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 |
Top |
RelatedDiseases for ZSCAN20 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |