|
||||||
|
 | |
| |
| |
| |
| 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 ACTR5 |
 Gene summary |
| Gene information | Gene symbol | ACTR5 | Gene ID | 79913 |
| Gene name | ARP5 actin related protein 5 homolog | |
| Synonyms | Arp5|INO80M | |
| Cytomap | 20q11.23 | |
| Type of gene | protein-coding | |
| Description | actin-related protein 5INO80 complex subunit MhARP5sarcoma antigen NY-SAR-16 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H9F9 | |
| Context | PubMed: ACTR5 [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 ACTR5 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 ACTR5 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ACTR5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_351838 | 20 | 37378652:37378882:37380773:37380943:37383599:37383817 | 37380773:37380943 | ENSG00000101442.8 | ENST00000243903.4 |
| exon_skip_351842 | 20 | 37394044:37394161:37394880:37395020:37396106:37396239 | 37394880:37395020 | ENSG00000101442.8 | ENST00000243903.4 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ACTR5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_351838 | 20 | 37378652:37378882:37380773:37380943:37383599:37383817 | 37380773:37380943 | ENSG00000101442.8 | ENST00000243903.4 |
| exon_skip_351842 | 20 | 37394044:37394161:37394880:37395020:37396106:37396239 | 37394880:37395020 | ENSG00000101442.8 | ENST00000243903.4 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ACTR5 |
| 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 |
| ENST00000243903 | 37380773 | 37380943 | Frame-shift |
| ENST00000243903 | 37394880 | 37395020 | 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 |
| ENST00000243903 | 37380773 | 37380943 | Frame-shift |
| ENST00000243903 | 37394880 | 37395020 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for ACTR5 |
| 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 |
Top |
SNVs in the skipped exons for ACTR5 |
| - 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. |
ACTR5_HNSC_exon_skip_351842_psi_boxplot.png |
ACTR5_LIHC_exon_skip_351842_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-A1EG-01 | exon_skip_351842 | 37394881 | 37395020 | 37394914 | 37394914 | Frame_Shift_Del | T | - | p.F443fs |
| HNSC | TCGA-BA-4078-01 | exon_skip_351842 | 37394881 | 37395020 | 37395021 | 37395021 | Splice_Site | G | A | p.R478_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BA-4078-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_351842 | |
| Skipped exon start: 37394881 | |
| Skipped exon end: 37395020 | |
| Mutation start: 37395021 | |
| Mutation end: 37395021 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R478_splice | |
exon_skip_351842_HNSC_TCGA-BA-4078-01.png | |
exon_skip_389812_HNSC_TCGA-BA-4078-01.png | |
exon_skip_73983_HNSC_TCGA-BA-4078-01.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 |
| JHUEM7_ENDOMETRIUM | 37380774 | 37380943 | 37380784 | 37380784 | Missense_Mutation | A | G | p.K206E |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37380774 | 37380943 | 37380791 | 37380791 | Missense_Mutation | G | A | p.C208Y |
| CAL54_KIDNEY | 37380774 | 37380943 | 37380862 | 37380862 | Missense_Mutation | G | A | p.G232R |
| WM88_SKIN | 37394881 | 37395020 | 37394951 | 37394951 | Missense_Mutation | T | A | p.I455N |
| G402_SOFT_TISSUE | 37394881 | 37395020 | 37394971 | 37394971 | Missense_Mutation | G | A | p.G462R |
| NCIH650_LUNG | 37394881 | 37395020 | 37394996 | 37394996 | Missense_Mutation | A | G | p.E470G |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACTR5 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACTR5 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACTR5 |
Top |
RelatedDrugs for ACTR5 |
| 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 ACTR5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|