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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 ARHGAP24 |
Gene summary |
Gene information | Gene symbol | ARHGAP24 | Gene ID | 83478 |
Gene name | Rho GTPase activating protein 24 | |
Synonyms | FILGAP|RC-GAP72|RCGAP72|p73|p73RhoGAP | |
Cytomap | 4q21.23-q21.3 | |
Type of gene | protein-coding | |
Description | rho GTPase-activating protein 24RAC1- and CDC42-specific GTPase-activating protein of 72 kDafilamin-A-associated RhoGAPrhoGAP of 73 kDasarcoma antigen NY-SAR-88 | |
Modification date | 20180519 | |
UniProtAcc | Q8N264 | |
Context | PubMed: ARHGAP24 [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 ARHGAP24 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 ARHGAP24 |
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 ARHGAP24 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_424793 | 4 | 86396638:86396712:86491674:86491874:86643037:86643125 | 86491674:86491874 | ENSG00000138639.13 | ENST00000506421.1,ENST00000503995.1 |
exon_skip_424796 | 4 | 86749045:86749128:86844800:86844923:86863218:86863358 | 86844800:86844923 | ENSG00000138639.13 | ENST00000514229.1 |
exon_skip_424798 | 4 | 86844886:86844923:86863218:86863426:86893188:86893321 | 86863218:86863426 | ENSG00000138639.13 | ENST00000502537.1,ENST00000514229.1,ENST00000395184.1,ENST00000503995.1,ENST00000395183.2 |
exon_skip_424799 | 4 | 86851425:86852195:86863218:86863426:86893188:86893321 | 86863218:86863426 | ENSG00000138639.13 | ENST00000264343.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARHGAP24 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_424793 | 4 | 86396638:86396712:86491674:86491874:86643037:86643125 | 86491674:86491874 | ENSG00000138639.13 | ENST00000503995.1,ENST00000506421.1 |
exon_skip_424795 | 4 | 86525305:86525456:86607755:86607820:86643037:86643125 | 86607755:86607820 | ENSG00000138639.13 | ENST00000512201.1 |
exon_skip_424798 | 4 | 86844886:86844923:86863218:86863426:86893188:86893321 | 86863218:86863426 | ENSG00000138639.13 | ENST00000395184.1,ENST00000503995.1,ENST00000395183.2,ENST00000514229.1,ENST00000502537.1 |
exon_skip_424799 | 4 | 86851425:86852195:86863218:86863426:86893188:86893321 | 86863218:86863426 | ENSG00000138639.13 | ENST00000264343.4 |
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 ARHGAP24 |
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 |
ENST00000395184 | 86863218 | 86863426 | 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 |
ENST00000395184 | 86863218 | 86863426 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ARHGAP24 |
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 ARHGAP24 |
- 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-A3A0-01 | exon_skip_424793 | 86491675 | 86491874 | 86491780 | 86491780 | Frame_Shift_Del | A | - | p.Q29fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_424793 | 86491675 | 86491874 | 86491826 | 86491826 | Frame_Shift_Del | G | - | p.K44fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_424796 | 86844801 | 86844923 | 86844906 | 86844906 | Frame_Shift_Del | G | - | p.W125fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_424799 exon_skip_424798 | 86863219 | 86863426 | 86863347 | 86863347 | Frame_Shift_Del | T | - | p.F174fs |
SKCM | TCGA-D9-A6EC-06 | exon_skip_424793 | 86491675 | 86491874 | 86491737 | 86491737 | Nonsense_Mutation | C | T | p.Q15* |
SKCM | TCGA-D9-A6EC-06 | exon_skip_424793 | 86491675 | 86491874 | 86491737 | 86491737 | Nonsense_Mutation | C | T | p.Q15X |
STAD | TCGA-D7-A4YT-01 | exon_skip_424793 | 86491675 | 86491874 | 86491782 | 86491782 | Nonsense_Mutation | G | T | p.G30* |
STAD | TCGA-D7-A4YT-01 | exon_skip_424793 | 86491675 | 86491874 | 86491782 | 86491782 | Nonsense_Mutation | G | T | p.G30X |
SKCM | TCGA-D3-A1Q6-06 | exon_skip_424796 | 86844801 | 86844923 | 86844906 | 86844906 | Nonsense_Mutation | G | A | p.W125* |
COAD | TCGA-AA-3554-01 | exon_skip_424796 | 86844801 | 86844923 | 86844920 | 86844920 | Nonsense_Mutation | G | T | p.G130X |
LUAD | TCGA-53-7626-01 | exon_skip_424793 | 86491675 | 86491874 | 86491874 | 86491875 | Splice_Site | GG | TT | p.L60_splice |
BRCA | TCGA-A2-A0T0-01 | exon_skip_424799 exon_skip_424798 | 86863219 | 86863426 | 86863218 | 86863218 | Splice_Site | G | T | e4-1 |
- 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 |
RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 86491675 | 86491874 | 86491719 | 86491719 | Missense_Mutation | G | A | p.E9K |
MIAPACA2_PANCREAS | 86491675 | 86491874 | 86491726 | 86491726 | Missense_Mutation | C | G | p.P11R |
HEC251_ENDOMETRIUM | 86844801 | 86844923 | 86844810 | 86844810 | Missense_Mutation | G | A | p.R93Q |
GP2D_LARGE_INTESTINE | 86844801 | 86844923 | 86844840 | 86844840 | Missense_Mutation | A | G | p.Y103C |
GP5D_LARGE_INTESTINE | 86844801 | 86844923 | 86844840 | 86844840 | Missense_Mutation | A | G | p.Y103C |
HCC1428_BREAST | 86844801 | 86844923 | 86844861 | 86844861 | Missense_Mutation | A | G | p.Q110R |
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 86844801 | 86844923 | 86844894 | 86844894 | Missense_Mutation | G | A | p.R121H |
EN_ENDOMETRIUM | 86844801 | 86844923 | 86844920 | 86844920 | Missense_Mutation | G | A | p.G130R |
HCC2450_LUNG | 86863219 | 86863426 | 86863232 | 86863232 | Missense_Mutation | G | C | p.Q135H |
NCIH2023_LUNG | 86863219 | 86863426 | 86863269 | 86863269 | Missense_Mutation | G | T | p.G148W |
EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 86863219 | 86863426 | 86863303 | 86863303 | Missense_Mutation | G | C | p.C159S |
KYSE150_OESOPHAGUS | 86863219 | 86863426 | 86863305 | 86863305 | Missense_Mutation | G | A | p.V160M |
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 86863219 | 86863426 | 86863330 | 86863330 | Missense_Mutation | T | C | p.L168P |
ML1_THYROID | 86863219 | 86863426 | 86863411 | 86863411 | Missense_Mutation | A | C | p.K195T |
NCIH1155_LUNG | 86491675 | 86491874 | 86491782 | 86491782 | Nonsense_Mutation | G | T | p.G30* |
FUOV1_OVARY | 86491675 | 86491874 | 86491802 | 86491802 | Nonsense_Mutation | G | A | p.W36* |
HCC78_LUNG | 86491675 | 86491874 | 86491833 | 86491833 | Nonsense_Mutation | C | T | p.Q47* |
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 86863219 | 86863426 | 86863350 | 86863350 | Nonsense_Mutation | C | T | p.R175* |
MCC26_SKIN | 86863219 | 86863426 | 86863386 | 86863386 | Nonsense_Mutation | C | T | p.Q187* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGAP24 |
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 ARHGAP24 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGAP24 |
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RelatedDrugs for ARHGAP24 |
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 ARHGAP24 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |