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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 H3F3A |
 Gene summary |
| Gene information | Gene symbol | H3F3A | Gene ID | 3020 |
| Gene name | H3 histone family member 3A | |
| Synonyms | H3.3A|H3F3 | |
| Cytomap | 1q42.12 | |
| Type of gene | protein-coding | |
| Description | histone H3.3H3 histone, family 3A | |
| Modification date | 20180523 | |
| UniProtAcc | P84243 | |
| Context | PubMed: H3F3A [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 |
| H3F3A | GO:0006334 | nucleosome assembly | 21636898 |
| H3F3A | GO:0006336 | DNA replication-independent nucleosome assembly | 14718166 |
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Exon skipping events across known transcript of Ensembl for H3F3A 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 H3F3A |
| 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 H3F3A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_18777 | 1 | 226252029:226252180:226253356:226253510:226259051:226259224 | 226253356:226253510 | ENSG00000163041.5 | ENST00000366815.3,ENST00000366816.1,ENST00000366813.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for H3F3A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_18777 | 1 | 226252029:226252180:226253356:226253510:226259051:226259224 | 226253356:226253510 | ENSG00000163041.5 | ENST00000366816.1,ENST00000366815.3,ENST00000366813.1 |
| 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 H3F3A |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for H3F3A |
| 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 H3F3A |
| - 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-A1EG-01 | exon_skip_18777 | 226253357 | 226253510 | 226253421 | 226253421 | Frame_Shift_Del | A | - | p.K65fs |
| - 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 |
| PACADD188_PANCREAS | 226253357 | 226253510 | 226253424 | 226253427 | Frame_Shift_Del | CTTC | - | p.LP66fs |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 226253357 | 226253510 | 226253371 | 226253371 | Missense_Mutation | C | T | p.A48V |
| NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 226253357 | 226253510 | 226253376 | 226253376 | Missense_Mutation | C | T | p.R50C |
| SNU1040_LARGE_INTESTINE | 226253357 | 226253510 | 226253419 | 226253419 | Missense_Mutation | G | A | p.R64H |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 226253357 | 226253510 | 226253499 | 226253499 | Missense_Mutation | G | A | p.G91S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for H3F3A |
| 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 H3F3A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for H3F3A |
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RelatedDrugs for H3F3A |
| 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 H3F3A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| H3F3A | C0017636 | Glioblastoma | 2 | CTD_human |
| H3F3A | C0017638 | Glioma | 2 | CTD_human |
| H3F3A | C0206638 | Giant Cell Tumor of Bone | 1 | CTD_human |
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