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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 ARHGEF17 |
 Gene summary |
| Gene information | Gene symbol | ARHGEF17 | Gene ID | 9828 |
| Gene name | Rho guanine nucleotide exchange factor 17 | |
| Synonyms | P164RHOGEF|RHOGEF17|TEM4|p164-RhoGEF | |
| Cytomap | 11q13.4 | |
| Type of gene | protein-coding | |
| Description | rho guanine nucleotide exchange factor 17164 kDa Rho-specific guanine-nucleotide exchange factorRho guanine nucleotide exchange factor (GEF) 17Rho-specific guanine-nucleotide exchange factor 164 kDatumor endothelial marker 4 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96PE2 | |
| Context | PubMed: ARHGEF17 [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 |
| ARHGEF17 | GO:0030036 | actin cytoskeleton organization | 12071859 |
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Exon skipping events across known transcript of Ensembl for ARHGEF17 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 ARHGEF17 |
| 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 ARHGEF17 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_63318 | 11 | 73057927:73058005:73063874:73064057:73066577:73066694 | 73063874:73064057 | ENSG00000110237.3 | ENST00000263674.3 |
| exon_skip_63325 | 11 | 73063874:73064057:73066577:73066694:73066905:73066998 | 73066577:73066694 | ENSG00000110237.3 | ENST00000263674.3 |
| exon_skip_63326 | 11 | 73070878:73070997:73071364:73071578:73072132:73072206 | 73071364:73071578 | ENSG00000110237.3 | ENST00000263674.3 |
| exon_skip_63327 | 11 | 73071364:73071578:73072132:73072206:73073084:73073284 | 73072132:73072206 | ENSG00000110237.3 | ENST00000263674.3 |
| exon_skip_63328 | 11 | 73073477:73073779:73074250:73074500:73074791:73074878 | 73074250:73074500 | ENSG00000110237.3 | ENST00000263674.3 |
| exon_skip_63329 | 11 | 73074250:73074500:73074791:73074878:73075216:73075284 | 73074791:73074878 | ENSG00000110237.3 | ENST00000263674.3 |
| exon_skip_63338 | 11 | 73075258:73075284:73075496:73075645:73076434:73076609 | 73075496:73075645 | ENSG00000110237.3 | ENST00000263674.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARHGEF17 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_63318 | 11 | 73057927:73058005:73063874:73064057:73066577:73066694 | 73063874:73064057 | ENSG00000110237.3 | ENST00000263674.3 |
| exon_skip_63325 | 11 | 73063874:73064057:73066577:73066694:73066905:73066998 | 73066577:73066694 | ENSG00000110237.3 | ENST00000263674.3 |
| exon_skip_63326 | 11 | 73070878:73070997:73071364:73071578:73072132:73072206 | 73071364:73071578 | ENSG00000110237.3 | ENST00000263674.3 |
| exon_skip_63327 | 11 | 73071364:73071578:73072132:73072206:73073084:73073284 | 73072132:73072206 | ENSG00000110237.3 | ENST00000263674.3 |
| exon_skip_63328 | 11 | 73073477:73073779:73074250:73074500:73074791:73074878 | 73074250:73074500 | ENSG00000110237.3 | ENST00000263674.3 |
| exon_skip_63329 | 11 | 73074250:73074500:73074791:73074878:73075216:73075284 | 73074791:73074878 | ENSG00000110237.3 | ENST00000263674.3 |
| exon_skip_63338 | 11 | 73075258:73075284:73075496:73075645:73076434:73076609 | 73075496:73075645 | ENSG00000110237.3 | ENST00000263674.3 |
| 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 ARHGEF17 |
| 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 |
| ENST00000263674 | 73071364 | 73071578 | Frame-shift |
| ENST00000263674 | 73072132 | 73072206 | Frame-shift |
| ENST00000263674 | 73074250 | 73074500 | Frame-shift |
| ENST00000263674 | 73075496 | 73075645 | Frame-shift |
| ENST00000263674 | 73063874 | 73064057 | In-frame |
| ENST00000263674 | 73066577 | 73066694 | In-frame |
| ENST00000263674 | 73074791 | 73074878 | In-frame |
| 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 |
| ENST00000263674 | 73071364 | 73071578 | Frame-shift |
| ENST00000263674 | 73072132 | 73072206 | Frame-shift |
| ENST00000263674 | 73074250 | 73074500 | Frame-shift |
| ENST00000263674 | 73075496 | 73075645 | Frame-shift |
| ENST00000263674 | 73063874 | 73064057 | In-frame |
| ENST00000263674 | 73066577 | 73066694 | In-frame |
| ENST00000263674 | 73074791 | 73074878 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARHGEF17 |
| 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 |
| ENST00000263674 | 7870 | 2063 | 73063874 | 73064057 | 3621 | 3803 | 1090 | 1151 |
| ENST00000263674 | 7870 | 2063 | 73066577 | 73066694 | 3804 | 3920 | 1151 | 1190 |
| ENST00000263674 | 7870 | 2063 | 73074791 | 73074878 | 5597 | 5683 | 1749 | 1777 |
| 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 |
| ENST00000263674 | 7870 | 2063 | 73063874 | 73064057 | 3621 | 3803 | 1090 | 1151 |
| ENST00000263674 | 7870 | 2063 | 73066577 | 73066694 | 3804 | 3920 | 1151 | 1190 |
| ENST00000263674 | 7870 | 2063 | 73074791 | 73074878 | 5597 | 5683 | 1749 | 1777 |
| 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 |
| Q96PE2 | 1090 | 1151 | 1 | 2063 | Chain | ID=PRO_0000286589;Note=Rho guanine nucleotide exchange factor 17 |
| Q96PE2 | 1090 | 1151 | 1066 | 1254 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q96PE2 | 1151 | 1190 | 1 | 2063 | Chain | ID=PRO_0000286589;Note=Rho guanine nucleotide exchange factor 17 |
| Q96PE2 | 1151 | 1190 | 1066 | 1254 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q96PE2 | 1749 | 1777 | 1 | 2063 | Chain | ID=PRO_0000286589;Note=Rho guanine nucleotide exchange factor 17 |
| 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 |
| Q96PE2 | 1090 | 1151 | 1 | 2063 | Chain | ID=PRO_0000286589;Note=Rho guanine nucleotide exchange factor 17 |
| Q96PE2 | 1090 | 1151 | 1066 | 1254 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q96PE2 | 1151 | 1190 | 1 | 2063 | Chain | ID=PRO_0000286589;Note=Rho guanine nucleotide exchange factor 17 |
| Q96PE2 | 1151 | 1190 | 1066 | 1254 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q96PE2 | 1749 | 1777 | 1 | 2063 | Chain | ID=PRO_0000286589;Note=Rho guanine nucleotide exchange factor 17 |
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SNVs in the skipped exons for ARHGEF17 |
| - 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 |
| KIRC | TCGA-CZ-4866-01 | exon_skip_63325 | 73066578 | 73066694 | 73066671 | 73066671 | Frame_Shift_Del | C | - | p.R1182fs |
| PCPG | TCGA-RW-A684-01 | exon_skip_63329 | 73074792 | 73074878 | 73074835 | 73074835 | Frame_Shift_Del | A | - | p.N1764fs |
| PCPG | TCGA-RW-A684-01 | exon_skip_63329 | 73074792 | 73074878 | 73074835 | 73074835 | Frame_Shift_Del | A | - | p.R1763fs |
| UCEC | TCGA-B5-A0JV-01 | exon_skip_63338 | 73075497 | 73075645 | 73075510 | 73075510 | Frame_Shift_Del | C | - | p.D1805fs |
| BRCA | TCGA-BH-A0B1-01 | exon_skip_63318 | 73063875 | 73064057 | 73064010 | 73064010 | Nonsense_Mutation | C | T | p.Q1136* |
| SKCM | TCGA-EE-A2ML-06 | exon_skip_63318 | 73063875 | 73064057 | 73064052 | 73064052 | Nonsense_Mutation | C | T | p.Q1150* |
| SKCM | TCGA-EE-A2ML-06 | exon_skip_63318 | 73063875 | 73064057 | 73064052 | 73064052 | Nonsense_Mutation | C | T | p.Q1150X |
| LUAD | TCGA-50-5049-01 | exon_skip_63326 | 73071365 | 73071578 | 73071467 | 73071467 | Nonsense_Mutation | G | T | p.E1437* |
| COAD | TCGA-D5-6928-01 | exon_skip_63328 | 73074251 | 73074500 | 73074307 | 73074307 | Nonsense_Mutation | G | T | p.E1685X |
| - 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 |
| EN_ENDOMETRIUM | 73071365 | 73071578 | 73071506 | 73071507 | Frame_Shift_Ins | - | T | p.I1450fs |
| COLO320_LARGE_INTESTINE | 73074251 | 73074500 | 73074340 | 73074341 | Frame_Shift_Ins | - | C | p.S1696fs |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73063875 | 73064057 | 73063977 | 73063977 | Missense_Mutation | G | A | p.E1125K |
| HAL01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73063875 | 73064057 | 73063998 | 73063998 | Missense_Mutation | C | T | p.R1132W |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73066578 | 73066694 | 73066587 | 73066587 | Missense_Mutation | G | A | p.D1155N |
| EW8_BONE | 73066578 | 73066694 | 73066596 | 73066596 | Missense_Mutation | G | T | p.V1158L |
| HT115_LARGE_INTESTINE | 73066578 | 73066694 | 73066620 | 73066620 | Missense_Mutation | G | A | p.D1166N |
| SNU1040_LARGE_INTESTINE | 73066578 | 73066694 | 73066692 | 73066692 | Missense_Mutation | G | A | p.E1190K |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73071365 | 73071578 | 73071396 | 73071396 | Missense_Mutation | C | T | p.A1413V |
| HEC6_ENDOMETRIUM | 73071365 | 73071578 | 73071530 | 73071530 | Missense_Mutation | G | A | p.A1458T |
| GP2D_LARGE_INTESTINE | 73072133 | 73072206 | 73072193 | 73072193 | Missense_Mutation | G | A | p.R1494H |
| GP5D_LARGE_INTESTINE | 73072133 | 73072206 | 73072193 | 73072193 | Missense_Mutation | G | A | p.R1494H |
| HEC151_ENDOMETRIUM | 73074251 | 73074500 | 73074263 | 73074263 | Missense_Mutation | C | T | p.P1670L |
| HS936T_SKIN | 73074251 | 73074500 | 73074304 | 73074304 | Missense_Mutation | G | A | p.E1684K |
| TGBC11TKB_STOMACH | 73074792 | 73074878 | 73074830 | 73074830 | Missense_Mutation | G | A | p.R1762H |
| HCC461_LUNG | 73075497 | 73075645 | 73075551 | 73075551 | Missense_Mutation | G | A | p.S1819N |
| LCLC103H_LUNG | 73063875 | 73064057 | 73064056 | 73064056 | Splice_Site | C | T | p.S1151L |
| 2313287_STOMACH | 73066578 | 73066694 | 73066694 | 73066694 | Splice_Site | G | T | p.E1190D |
| MFE319_ENDOMETRIUM | 73074251 | 73074500 | 73074252 | 73074252 | Splice_Site | T | C | p.N1666N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGEF17 |
| 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 ARHGEF17 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGEF17 |
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RelatedDrugs for ARHGEF17 |
| 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 ARHGEF17 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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