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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 ARHGEF5 |
 Gene summary |
| Gene information | Gene symbol | ARHGEF5 | Gene ID | 7984 |
| Gene name | Rho guanine nucleotide exchange factor 5 | |
| Synonyms | GEF5|P60|TIM|TIM1 | |
| Cytomap | 7q35 | |
| Type of gene | protein-coding | |
| Description | rho guanine nucleotide exchange factor 5Rho guanine nucleotide exchange factor (GEF) 5ephexin-3ephexin3guanine nucleotide regulatory protein TIMoncogene TIMp60 TIMtransforming immortalized mammary oncogene | |
| Modification date | 20180519 | |
| UniProtAcc | Q12774 | |
| Context | PubMed: ARHGEF5 [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 |
| ARHGEF5 | GO:0043087 | regulation of GTPase activity | 21525037 |
| ARHGEF5 | GO:0043507 | positive regulation of JUN kinase activity | 15601624 |
| ARHGEF5 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 15601624 |
| ARHGEF5 | GO:0070372 | regulation of ERK1 and ERK2 cascade | 15601624 |
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Exon skipping events across known transcript of Ensembl for ARHGEF5 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 ARHGEF5 |
| 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 ARHGEF5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_472051 | 7 | 144064194:144064448:144068253:144068414:144068969:144069122 | 144068253:144068414 | ENSG00000050327.10 | ENST00000474817.1,ENST00000471847.2,ENST00000056217.5 |
| exon_skip_472053 | 7 | 144068969:144069122:144069391:144069521:144069775:144069850 | 144069391:144069521 | ENSG00000050327.10 | ENST00000474817.1,ENST00000471847.2,ENST00000056217.5 |
| exon_skip_472054 | 7 | 144069391:144069521:144069775:144069850:144070287:144070377 | 144069775:144069850 | ENSG00000050327.10 | ENST00000474817.1,ENST00000471847.2,ENST00000056217.5 |
| exon_skip_472055 | 7 | 144071824:144071982:144072606:144072768:144074212:144074283 | 144072606:144072768 | ENSG00000050327.10 | ENST00000471847.2,ENST00000056217.5 |
| exon_skip_472057 | 7 | 144072606:144072768:144074212:144074283:144075854:144075959 | 144074212:144074283 | ENSG00000050327.10 | ENST00000471847.2,ENST00000056217.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARHGEF5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_472051 | 7 | 144064194:144064448:144068253:144068414:144068969:144069122 | 144068253:144068414 | ENSG00000050327.10 | ENST00000056217.5,ENST00000474817.1,ENST00000471847.2 |
| exon_skip_472053 | 7 | 144068969:144069122:144069391:144069521:144069775:144069850 | 144069391:144069521 | ENSG00000050327.10 | ENST00000056217.5,ENST00000474817.1,ENST00000471847.2 |
| exon_skip_472054 | 7 | 144069391:144069521:144069775:144069850:144070287:144070377 | 144069775:144069850 | ENSG00000050327.10 | ENST00000056217.5,ENST00000474817.1,ENST00000471847.2 |
| exon_skip_472055 | 7 | 144071824:144071982:144072606:144072768:144074212:144074283 | 144072606:144072768 | ENSG00000050327.10 | ENST00000056217.5,ENST00000471847.2 |
| exon_skip_472057 | 7 | 144072606:144072768:144074212:144074283:144075854:144075959 | 144074212:144074283 | ENSG00000050327.10 | ENST00000056217.5,ENST00000471847.2 |
| 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 ARHGEF5 |
| 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 ARHGEF5 |
| 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 ARHGEF5 |
| - 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 |
| STAD | TCGA-FP-A4BE-01 | exon_skip_472055 | 144072607 | 144072768 | 144072654 | 144072654 | Frame_Shift_Del | G | - | p.R1449fs |
| KIRC | TCGA-BP-5185-01 | exon_skip_472055 | 144072607 | 144072768 | 144072710 | 144072710 | Frame_Shift_Del | T | - | p.L1467fs |
| - 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 |
| MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144068254 | 144068414 | 144068284 | 144068284 | Missense_Mutation | T | C | p.S1188P |
| GP2D_LARGE_INTESTINE | 144068254 | 144068414 | 144068288 | 144068288 | Missense_Mutation | A | G | p.Y1189C |
| HEC251_ENDOMETRIUM | 144068254 | 144068414 | 144068293 | 144068293 | Missense_Mutation | C | T | p.R1191C |
| HCT15_LARGE_INTESTINE | 144068254 | 144068414 | 144068293 | 144068293 | Missense_Mutation | C | T | p.R1191C |
| ECGI10_OESOPHAGUS | 144068254 | 144068414 | 144068293 | 144068293 | Missense_Mutation | C | T | p.R1191C |
| PLCPRF5_LIVER | 144068254 | 144068414 | 144068293 | 144068293 | Missense_Mutation | C | T | p.R1191C |
| HEYA8_OVARY | 144068254 | 144068414 | 144068299 | 144068299 | Missense_Mutation | C | G | p.L1193V |
| HEY_OVARY | 144068254 | 144068414 | 144068299 | 144068299 | Missense_Mutation | C | G | p.L1193V |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144068254 | 144068414 | 144068316 | 144068316 | Missense_Mutation | T | A | p.D1198E |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144068254 | 144068414 | 144068317 | 144068317 | Missense_Mutation | C | T | p.H1199Y |
| HUO3N1_BONE | 144068254 | 144068414 | 144068329 | 144068329 | Missense_Mutation | T | C | p.S1203P |
| LS411N_LARGE_INTESTINE | 144068254 | 144068414 | 144068344 | 144068344 | Missense_Mutation | G | A | p.A1208T |
| KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144068254 | 144068414 | 144068358 | 144068358 | Missense_Mutation | C | A | p.N1212K |
| SKMEL31_SKIN | 144069776 | 144069850 | 144069804 | 144069804 | Missense_Mutation | C | T | p.S1335F |
| COV644_OVARY | 144069776 | 144069850 | 144069825 | 144069825 | Missense_Mutation | C | G | p.T1342R |
| CCK81_LARGE_INTESTINE | 144072607 | 144072768 | 144072653 | 144072653 | Missense_Mutation | C | T | p.R1449W |
| NCIH1792_LUNG | 144072607 | 144072768 | 144072705 | 144072705 | Missense_Mutation | G | A | p.R1466Q |
| HCC515_LUNG | 144072607 | 144072768 | 144072763 | 144072763 | Missense_Mutation | G | T | p.E1485D |
| MZ1PC_PANCREAS | 144068254 | 144068414 | 144068368 | 144068368 | Nonsense_Mutation | C | T | p.Q1216* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGEF5 |
| 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 ARHGEF5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGEF5 |
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RelatedDrugs for ARHGEF5 |
| 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 ARHGEF5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ARHGEF5 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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