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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 ZMYND10 |
 Gene summary |
| Gene information | Gene symbol | ZMYND10 | Gene ID | 51364 |
| Gene name | zinc finger MYND-type containing 10 | |
| Synonyms | BLU|CILD22|FLU | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | zinc finger MYND domain-containing protein 10protein BLu | |
| Modification date | 20180523 | |
| UniProtAcc | O75800 | |
| Context | PubMed: ZMYND10 [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 ZMYND10 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 ZMYND10 |
| 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 ZMYND10 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_384621 | 3 | 50379240:50379362:50379445:50379571:50379827:50379879 | 50379445:50379571 | ENSG00000004838.9 | ENST00000360165.3,ENST00000231749.3 |
| exon_skip_384625 | 3 | 50379467:50379571:50379827:50380000:50380348:50380449 | 50379827:50380000 | ENSG00000004838.9 | ENST00000442887.1,ENST00000231749.3 |
| exon_skip_384631 | 3 | 50379952:50380000:50380348:50380449:50380548:50380637 | 50380348:50380449 | ENSG00000004838.9 | ENST00000442887.1,ENST00000443080.1,ENST00000231749.3 |
| exon_skip_384634 | 3 | 50380548:50380637:50380737:50380875:50380993:50381047 | 50380737:50380875 | ENSG00000004838.9 | ENST00000442887.1,ENST00000360165.3,ENST00000231749.3 |
| exon_skip_384635 | 3 | 50381164:50381281:50382554:50382663:50382918:50383103 | 50382554:50382663 | ENSG00000004838.9 | ENST00000360165.3,ENST00000231749.3 |
| exon_skip_384636 | 3 | 50381164:50381281:50382554:50382667:50382918:50383103 | 50382554:50382667 | ENSG00000004838.9 | ENST00000443080.1,ENST00000431869.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZMYND10 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_384621 | 3 | 50379240:50379362:50379445:50379571:50379827:50379879 | 50379445:50379571 | ENSG00000004838.9 | ENST00000231749.3,ENST00000360165.3 |
| exon_skip_384625 | 3 | 50379467:50379571:50379827:50380000:50380348:50380449 | 50379827:50380000 | ENSG00000004838.9 | ENST00000231749.3,ENST00000442887.1 |
| exon_skip_384631 | 3 | 50379952:50380000:50380348:50380449:50380548:50380637 | 50380348:50380449 | ENSG00000004838.9 | ENST00000231749.3,ENST00000442887.1,ENST00000443080.1 |
| exon_skip_384634 | 3 | 50380548:50380637:50380737:50380875:50380993:50381047 | 50380737:50380875 | ENSG00000004838.9 | ENST00000231749.3,ENST00000360165.3,ENST00000442887.1 |
| exon_skip_384635 | 3 | 50381164:50381281:50382554:50382663:50382918:50383103 | 50382554:50382663 | ENSG00000004838.9 | ENST00000231749.3,ENST00000360165.3 |
| exon_skip_384636 | 3 | 50381164:50381281:50382554:50382667:50382918:50383103 | 50382554:50382667 | ENSG00000004838.9 | ENST00000443080.1,ENST00000431869.1 |
| 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 ZMYND10 |
| 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 |
| ENST00000231749 | 50379827 | 50380000 | Frame-shift |
| ENST00000231749 | 50380348 | 50380449 | Frame-shift |
| ENST00000231749 | 50382554 | 50382663 | Frame-shift |
| ENST00000231749 | 50379445 | 50379571 | In-frame |
| ENST00000231749 | 50380737 | 50380875 | 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 |
| ENST00000231749 | 50379827 | 50380000 | Frame-shift |
| ENST00000231749 | 50380348 | 50380449 | Frame-shift |
| ENST00000231749 | 50382554 | 50382663 | Frame-shift |
| ENST00000231749 | 50379445 | 50379571 | In-frame |
| ENST00000231749 | 50380737 | 50380875 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ZMYND10 |
| 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 |
| ENST00000231749 | 2913 | 440 | 50380737 | 50380875 | 1646 | 1783 | 124 | 170 |
| ENST00000231749 | 2913 | 440 | 50379445 | 50379571 | 2147 | 2272 | 291 | 333 |
| 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 |
| ENST00000231749 | 2913 | 440 | 50380737 | 50380875 | 1646 | 1783 | 124 | 170 |
| ENST00000231749 | 2913 | 440 | 50379445 | 50379571 | 2147 | 2272 | 291 | 333 |
| 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 |
| O75800 | 124 | 170 | 1 | 440 | Chain | ID=PRO_0000218314;Note=Zinc finger MYND domain-containing protein 10 |
| O75800 | 124 | 170 | 134 | 134 | Sequence conflict | Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75800 | 291 | 333 | 1 | 440 | Chain | ID=PRO_0000218314;Note=Zinc finger MYND domain-containing protein 10 |
| O75800 | 291 | 333 | 323 | 440 | Natural variant | ID=VAR_080482;Note=In CILD22%3B loss of interaction with LRRC6. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23891469;Dbxref=PMID:23891469 |
| 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 |
| O75800 | 124 | 170 | 1 | 440 | Chain | ID=PRO_0000218314;Note=Zinc finger MYND domain-containing protein 10 |
| O75800 | 124 | 170 | 134 | 134 | Sequence conflict | Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75800 | 291 | 333 | 1 | 440 | Chain | ID=PRO_0000218314;Note=Zinc finger MYND domain-containing protein 10 |
| O75800 | 291 | 333 | 323 | 440 | Natural variant | ID=VAR_080482;Note=In CILD22%3B loss of interaction with LRRC6. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23891469;Dbxref=PMID:23891469 |
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SNVs in the skipped exons for ZMYND10 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_384625 | 50379828 | 50380000 | 50379954 | 50379954 | Frame_Shift_Del | G | - | p.P249fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_384634 | 50380738 | 50380875 | 50380838 | 50380838 | Frame_Shift_Del | A | - | p.L137fs |
| KIRP | TCGA-5P-A9KC-01 | exon_skip_384635 | 50382555 | 50382663 | 50382584 | 50382594 | Frame_Shift_Del | TGGGCTCGCCC | - | p.55_58del |
| KIRP | TCGA-5P-A9KC-01 | exon_skip_384636 | 50382555 | 50382667 | 50382584 | 50382594 | Frame_Shift_Del | TGGGCTCGCCC | - | p.55_58del |
| KIRP | TCGA-5P-A9KC-01 | exon_skip_384635 | 50382555 | 50382663 | 50382588 | 50382598 | Frame_Shift_Del | CTCGCCCTGGC | - | p.53_57del |
| KIRP | TCGA-5P-A9KC-01 | exon_skip_384636 | 50382555 | 50382667 | 50382588 | 50382598 | Frame_Shift_Del | CTCGCCCTGGC | - | p.53_57del |
| UCEC | TCGA-AX-A060-01 | exon_skip_384635 | 50382555 | 50382663 | 50382592 | 50382592 | Frame_Shift_Del | C | - | p.G55fs |
| UCEC | TCGA-AX-A060-01 | exon_skip_384636 | 50382555 | 50382667 | 50382592 | 50382592 | Frame_Shift_Del | C | - | p.G55fs |
| HNSC | TCGA-BA-4075-01 | exon_skip_384634 | 50380738 | 50380875 | 50380780 | 50380781 | Frame_Shift_Ins | - | C | p.A156fs |
| HNSC | TCGA-BB-4225-01 | exon_skip_384634 | 50380738 | 50380875 | 50380780 | 50380781 | Frame_Shift_Ins | - | C | p.A156fs |
| LIHC | TCGA-BC-A10S-01 | exon_skip_384634 | 50380738 | 50380875 | 50380783 | 50380784 | Frame_Shift_Ins | - | C | p.G155fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_384621 | 50379446 | 50379571 | 50379573 | 50379573 | Splice_Site | T | C | . |
| - 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 |
| JHUEM2_ENDOMETRIUM | 50379828 | 50380000 | 50379869 | 50379869 | Missense_Mutation | G | A | p.R278C |
| SARC9371_BONE | 50379828 | 50380000 | 50379955 | 50379955 | Missense_Mutation | G | A | p.P249L |
| SARC9371_BONE | 50379828 | 50380000 | 50379956 | 50379956 | Missense_Mutation | G | A | p.P249S |
| D425_CENTRAL_NERVOUS_SYSTEM | 50379828 | 50380000 | 50379977 | 50379977 | Missense_Mutation | T | C | p.S242G |
| D458_CENTRAL_NERVOUS_SYSTEM | 50379828 | 50380000 | 50379977 | 50379977 | Missense_Mutation | T | C | p.S242G |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50379828 | 50380000 | 50379983 | 50379983 | Missense_Mutation | C | T | p.E240K |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50382555 | 50382667 | 50382652 | 50382652 | Missense_Mutation | T | C | p.Q35R |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50382555 | 50382663 | 50382652 | 50382652 | Missense_Mutation | T | C | p.Q35R |
| LS1034_MATCHED_NORMAL_TISSUE | 50379828 | 50380000 | 50379947 | 50379947 | Nonsense_Mutation | G | A | p.Q252* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZMYND10 |
| 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 ZMYND10 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZMYND10 |
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RelatedDrugs for ZMYND10 |
| 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 ZMYND10 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ZMYND10 | C3809543 | CILIARY DYSKINESIA, PRIMARY, 22 | 2 | UNIPROT |
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