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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 ARHGEF2 |
 Gene summary |
| Gene information | Gene symbol | ARHGEF2 | Gene ID | 9181 |
| Gene name | Rho/Rac guanine nucleotide exchange factor 2 | |
| Synonyms | GEF|GEF-H1|GEFH1|LFP40|NEDMHM|P40 | |
| Cytomap | 1q22 | |
| Type of gene | protein-coding | |
| Description | rho guanine nucleotide exchange factor 2Rho/Rac guanine nucleotide exchange factor (GEF) 2guanine nucleotide exchange factor H1microtubule-regulated Rho-GEFproliferating cell nucleolar antigen p40 | |
| Modification date | 20180522 | |
| UniProtAcc | Q92974 | |
| Context | PubMed: ARHGEF2 [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 |
| ARHGEF2 | GO:0032755 | positive regulation of interleukin-6 production | 21887730 |
| ARHGEF2 | GO:0032760 | positive regulation of tumor necrosis factor production | 21887730 |
| ARHGEF2 | GO:0045666 | positive regulation of neuron differentiation | 28453519 |
| ARHGEF2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21887730 |
| ARHGEF2 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 21887730 |
| ARHGEF2 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 19043560|21887730 |
| ARHGEF2 | GO:0055059 | asymmetric neuroblast division | 28453519 |
| ARHGEF2 | GO:0071225 | cellular response to muramyl dipeptide | 21887730 |
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Exon skipping events across known transcript of Ensembl for ARHGEF2 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 ARHGEF2 |
| 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 ARHGEF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_32718 | 1 | 155922593:155922619:155924692:155924760:155927503:155927673 | 155924692:155924760 | ENSG00000116584.13 | ENST00000368316.1,ENST00000361247.4,ENST00000313695.7,ENST00000313667.4,ENST00000368315.4,ENST00000470975.2,ENST00000462460.2 |
| exon_skip_32719 | 1 | 155924692:155924760:155927503:155927673:155928110:155928187 | 155927503:155927673 | ENSG00000116584.13 | ENST00000368316.1,ENST00000361247.4,ENST00000313695.7,ENST00000313667.4,ENST00000368315.4,ENST00000470975.2,ENST00000462460.2 |
| exon_skip_32721 | 1 | 155928110:155928187:155931451:155931700:155931895:155932013 | 155931451:155931700 | ENSG00000116584.13 | ENST00000368316.1,ENST00000361247.4,ENST00000313695.7,ENST00000313667.4,ENST00000368315.4,ENST00000474428.2,ENST00000462460.2 |
| exon_skip_32723 | 1 | 155935114:155935203:155935421:155935551:155936206:155936264 | 155935421:155935551 | ENSG00000116584.13 | ENST00000497907.1,ENST00000368316.1,ENST00000361247.4,ENST00000609707.1,ENST00000313695.7,ENST00000313667.4,ENST00000368315.4,ENST00000471589.1,ENST00000462460.2 |
| exon_skip_32725 | 1 | 155936212:155936270:155936610:155936678:155938946:155939091 | 155936610:155936678 | ENSG00000116584.13 | ENST00000497907.1,ENST00000368316.1,ENST00000361247.4,ENST00000609707.1,ENST00000313695.7,ENST00000313667.4,ENST00000368315.4,ENST00000476273.1,ENST00000471589.1,ENST00000462460.2 |
| exon_skip_32727 | 1 | 155952897:155952991:155954184:155954224:155955122:155955240 | 155954184:155954224 | ENSG00000116584.13 | ENST00000368316.1,ENST00000495070.2,ENST00000462460.2 |
| exon_skip_32732 | 1 | 155954184:155954224:155955122:155955240:155959024:155959142 | 155955122:155955240 | ENSG00000116584.13 | ENST00000368316.1,ENST00000495070.2,ENST00000462460.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARHGEF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_32718 | 1 | 155922593:155922619:155924692:155924760:155927503:155927673 | 155924692:155924760 | ENSG00000116584.13 | ENST00000368315.4,ENST00000313695.7,ENST00000361247.4,ENST00000462460.2,ENST00000368316.1,ENST00000313667.4,ENST00000470975.2 |
| exon_skip_32719 | 1 | 155924692:155924760:155927503:155927673:155928110:155928187 | 155927503:155927673 | ENSG00000116584.13 | ENST00000368315.4,ENST00000313695.7,ENST00000361247.4,ENST00000462460.2,ENST00000368316.1,ENST00000313667.4,ENST00000470975.2 |
| exon_skip_32721 | 1 | 155928110:155928187:155931451:155931700:155931895:155932013 | 155931451:155931700 | ENSG00000116584.13 | ENST00000368315.4,ENST00000313695.7,ENST00000361247.4,ENST00000462460.2,ENST00000368316.1,ENST00000313667.4,ENST00000474428.2 |
| exon_skip_32723 | 1 | 155935114:155935203:155935421:155935551:155936206:155936264 | 155935421:155935551 | ENSG00000116584.13 | ENST00000368315.4,ENST00000313695.7,ENST00000361247.4,ENST00000462460.2,ENST00000368316.1,ENST00000313667.4,ENST00000471589.1,ENST00000497907.1,ENST00000609707.1 |
| exon_skip_32725 | 1 | 155936212:155936270:155936610:155936678:155938946:155939091 | 155936610:155936678 | ENSG00000116584.13 | ENST00000368315.4,ENST00000313695.7,ENST00000361247.4,ENST00000462460.2,ENST00000368316.1,ENST00000313667.4,ENST00000471589.1,ENST00000497907.1,ENST00000476273.1,ENST00000609707.1 |
| exon_skip_32727 | 1 | 155952897:155952991:155954184:155954224:155955122:155955240 | 155954184:155954224 | ENSG00000116584.13 | ENST00000462460.2,ENST00000368316.1,ENST00000495070.2 |
| exon_skip_32732 | 1 | 155954184:155954224:155955122:155955240:155959024:155959142 | 155955122:155955240 | ENSG00000116584.13 | ENST00000462460.2,ENST00000368316.1,ENST00000495070.2 |
| 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 ARHGEF2 |
| 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 |
| ENST00000361247 | 155924692 | 155924760 | Frame-shift |
| ENST00000361247 | 155927503 | 155927673 | Frame-shift |
| ENST00000361247 | 155935421 | 155935551 | Frame-shift |
| ENST00000361247 | 155936610 | 155936678 | Frame-shift |
| ENST00000361247 | 155931451 | 155931700 | 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 |
| ENST00000361247 | 155924692 | 155924760 | Frame-shift |
| ENST00000361247 | 155927503 | 155927673 | Frame-shift |
| ENST00000361247 | 155935421 | 155935551 | Frame-shift |
| ENST00000361247 | 155936610 | 155936678 | Frame-shift |
| ENST00000361247 | 155931451 | 155931700 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARHGEF2 |
| 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 |
| ENST00000361247 | 4166 | 986 | 155931451 | 155931700 | 1320 | 1568 | 406 | 489 |
| 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 |
| ENST00000361247 | 4166 | 986 | 155931451 | 155931700 | 1320 | 1568 | 406 | 489 |
| 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 |
| Q92974 | 406 | 489 | 454 | 457 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| Q92974 | 406 | 489 | 461 | 464 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| Q92974 | 406 | 489 | 473 | 482 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| Q92974 | 406 | 489 | 488 | 504 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| Q92974 | 406 | 489 | 1 | 986 | Chain | ID=PRO_0000080909;Note=Rho guanine nucleotide exchange factor 2 |
| Q92974 | 406 | 489 | 235 | 432 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q92974 | 406 | 489 | 472 | 571 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q92974 | 406 | 489 | 440 | 447 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| Q92974 | 406 | 489 | 465 | 469 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| Q92974 | 406 | 489 | 458 | 460 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| 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 |
| Q92974 | 406 | 489 | 454 | 457 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| Q92974 | 406 | 489 | 461 | 464 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| Q92974 | 406 | 489 | 473 | 482 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| Q92974 | 406 | 489 | 488 | 504 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| Q92974 | 406 | 489 | 1 | 986 | Chain | ID=PRO_0000080909;Note=Rho guanine nucleotide exchange factor 2 |
| Q92974 | 406 | 489 | 235 | 432 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q92974 | 406 | 489 | 472 | 571 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q92974 | 406 | 489 | 440 | 447 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| Q92974 | 406 | 489 | 465 | 469 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
| Q92974 | 406 | 489 | 458 | 460 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EFX |
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SNVs in the skipped exons for ARHGEF2 |
| - 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 |
| UCEC | TCGA-D1-A101-01 | exon_skip_32718 | 155924693 | 155924760 | 155924735 | 155924735 | Frame_Shift_Del | G | - | p.L625fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_32718 | 155924693 | 155924760 | 155924755 | 155924755 | Frame_Shift_Del | G | - | p.P546fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_32719 | 155927504 | 155927673 | 155927602 | 155927602 | Frame_Shift_Del | A | - | p.F511fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_32721 | 155931452 | 155931700 | 155931534 | 155931534 | Frame_Shift_Del | G | - | p.P434fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_32721 | 155931452 | 155931700 | 155931660 | 155931660 | Frame_Shift_Del | C | - | p.G392fs |
| LUSC | TCGA-63-5128-01 | exon_skip_32721 | 155931452 | 155931700 | 155931629 | 155931629 | Nonsense_Mutation | C | A | p.E475* |
| BLCA | TCGA-PQ-A6FI-01 | exon_skip_32723 | 155935422 | 155935551 | 155935540 | 155935540 | Nonsense_Mutation | C | A | p.E163* |
| - 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 |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155924693 | 155924760 | 155924735 | 155924735 | Frame_Shift_Del | G | - | p.L581fs |
| KGN_OVARY | 155927504 | 155927673 | 155927547 | 155927547 | Missense_Mutation | C | A | p.D558Y |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155927504 | 155927673 | 155927575 | 155927575 | Missense_Mutation | C | T | p.M548I |
| A375_SKIN | 155927504 | 155927673 | 155927610 | 155927610 | Missense_Mutation | C | A | p.G537W |
| MDAMB361_BREAST | 155927504 | 155927673 | 155927610 | 155927610 | Missense_Mutation | C | A | p.G537W |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155927504 | 155927673 | 155927637 | 155927637 | Missense_Mutation | C | T | p.V528I |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 155927504 | 155927673 | 155927657 | 155927657 | Missense_Mutation | A | G | p.V521A |
| CCK81_LARGE_INTESTINE | 155931452 | 155931700 | 155931490 | 155931490 | Missense_Mutation | C | T | p.G477D |
| JHUEM7_ENDOMETRIUM | 155931452 | 155931700 | 155931494 | 155931494 | Missense_Mutation | C | T | p.D476N |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155931452 | 155931700 | 155931563 | 155931563 | Missense_Mutation | C | T | p.A453T |
| NCIH322_LUNG | 155931452 | 155931700 | 155931585 | 155931585 | Missense_Mutation | G | C | p.I445M |
| SNU213_PANCREAS | 155931452 | 155931700 | 155931626 | 155931626 | Missense_Mutation | C | A | p.G432C |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155935422 | 155935551 | 155935453 | 155935453 | Missense_Mutation | C | T | p.A147T |
| C33A_CERVIX | 155935422 | 155935551 | 155935501 | 155935501 | Missense_Mutation | G | A | p.R131W |
| SNUC2A_LARGE_INTESTINE | 155924693 | 155924760 | 155924702 | 155924702 | Nonsense_Mutation | G | A | p.R592* |
| SNUC2B_LARGE_INTESTINE | 155924693 | 155924760 | 155924702 | 155924702 | Nonsense_Mutation | G | A | p.R592* |
| BEN_LUNG | 155931452 | 155931700 | 155931590 | 155931590 | Nonsense_Mutation | C | A | p.E444* |
| NCIH2122_LUNG | 155954185 | 155954224 | 155954185 | 155954185 | Splice_Site | C | T | p.R35H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGEF2 |
| 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 ARHGEF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGEF2 |
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RelatedDrugs for ARHGEF2 |
| 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 ARHGEF2 |
| 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)
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