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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 HIRA |
Gene summary |
Gene information | Gene symbol | HIRA | Gene ID | 7290 |
Gene name | histone cell cycle regulator | |
Synonyms | DGCR1|TUP1|TUPLE1 | |
Cytomap | 22q11.21 | |
Type of gene | protein-coding | |
Description | protein HIRADiGeorge critical region gene 1HIR histone cell cycle regulation defective homolog ATUP1-like enhancer of split protein 1 | |
Modification date | 20180523 | |
UniProtAcc | P54198 | |
Context | PubMed: HIRA [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 |
HIRA | GO:0006336 | DNA replication-independent nucleosome assembly | 14718166 |
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Exon skipping events across known transcript of Ensembl for HIRA 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 HIRA |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for HIRA |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_367460 | 22 | 19341518:19341641:19343282:19343388:19343752:19343811 | 19343282:19343388 | ENSG00000100084.10 | ENST00000541063.1,ENST00000263208.5,ENST00000340170.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HIRA |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_367460 | 22 | 19341518:19341641:19343282:19343388:19343752:19343811 | 19343282:19343388 | ENSG00000100084.10 | ENST00000340170.4,ENST00000263208.5,ENST00000541063.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for HIRA |
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 |
ENST00000263208 | 19343282 | 19343388 | 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 |
ENST00000263208 | 19343282 | 19343388 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for HIRA |
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 |
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 HIRA |
- 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 |
- 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 |
TE9_OESOPHAGUS | 19343283 | 19343388 | 19343301 | 19343301 | Missense_Mutation | T | A | p.N848I |
NCIH1869_LUNG | 19343283 | 19343388 | 19343325 | 19343325 | Missense_Mutation | G | A | p.S840F |
TUHR4TKB_KIDNEY | 19343283 | 19343388 | 19343355 | 19343355 | Missense_Mutation | G | A | p.T830M |
OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19343283 | 19343388 | 19343363 | 19343363 | Missense_Mutation | G | C | p.I827M |
SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19343283 | 19343388 | 19343361 | 19343361 | Nonsense_Mutation | A | T | p.L828* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HIRA |
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 HIRA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HIRA |
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RelatedDrugs for HIRA |
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 HIRA |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |