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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 PLEKHG1 |
Gene summary |
| Gene information | Gene symbol | PLEKHG1 | Gene ID | 57480 |
| Gene name | pleckstrin homology and RhoGEF domain containing G1 | |
| Synonyms | ARHGEF41 | |
| Cytomap | 6q25.1 | |
| Type of gene | protein-coding | |
| Description | pleckstrin homology domain-containing family G member 1pleckstrin homology domain containing, family G (with RhoGef domain) member 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9ULL1 | |
| Context | PubMed: PLEKHG1 [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 PLEKHG1 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 PLEKHG1 |
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 PLEKHG1 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_454796 | 6 | 150921018:150921153:150959215:150959261:150971863:150971922 | 150959215:150959261 | ENSG00000120278.10 | ENST00000367326.1 |
| exon_skip_454801 | 6 | 151054719:151055228:151089773:151089874:151107525:151107595 | 151089773:151089874 | ENSG00000120278.10 | ENST00000358517.2,ENST00000367328.1 |
| exon_skip_454804 | 6 | 151089821:151089874:151107525:151107595:151116991:151117038 | 151107525:151107595 | ENSG00000120278.10 | ENST00000358517.2,ENST00000475490.1,ENST00000367328.1 |
| exon_skip_454805 | 6 | 151116991:151117038:151121854:151122005:151125745:151125877 | 151121854:151122005 | ENSG00000120278.10 | ENST00000358517.2,ENST00000475490.1,ENST00000367328.1 |
| exon_skip_454806 | 6 | 151140814:151140910:151142330:151142369:151144789:151144812 | 151142330:151142369 | ENSG00000120278.10 | ENST00000358517.2,ENST00000475490.1,ENST00000367328.1 |
| exon_skip_454807 | 6 | 151142330:151142369:151144789:151144812:151151717:151151863 | 151144789:151144812 | ENSG00000120278.10 | ENST00000358517.2,ENST00000475490.1,ENST00000367328.1 |
| exon_skip_454809 | 6 | 151144789:151144812:151151717:151153341:151160968:151161080 | 151151717:151153341 | ENSG00000120278.10 | ENST00000358517.2,ENST00000367328.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLEKHG1 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_454796 | 6 | 150921018:150921153:150959215:150959261:150971863:150971922 | 150959215:150959261 | ENSG00000120278.10 | ENST00000367326.1 |
| exon_skip_454801 | 6 | 151054719:151055228:151089773:151089874:151107525:151107595 | 151089773:151089874 | ENSG00000120278.10 | ENST00000367328.1,ENST00000358517.2 |
| exon_skip_454804 | 6 | 151089821:151089874:151107525:151107595:151116991:151117038 | 151107525:151107595 | ENSG00000120278.10 | ENST00000367328.1,ENST00000358517.2,ENST00000475490.1 |
| exon_skip_454805 | 6 | 151116991:151117038:151121854:151122005:151125745:151125877 | 151121854:151122005 | ENSG00000120278.10 | ENST00000367328.1,ENST00000358517.2,ENST00000475490.1 |
| exon_skip_454806 | 6 | 151140814:151140910:151142330:151142369:151144789:151144812 | 151142330:151142369 | ENSG00000120278.10 | ENST00000367328.1,ENST00000358517.2,ENST00000475490.1 |
| exon_skip_454807 | 6 | 151142330:151142369:151144789:151144812:151151717:151151863 | 151144789:151144812 | ENSG00000120278.10 | ENST00000367328.1,ENST00000358517.2,ENST00000475490.1 |
| exon_skip_454809 | 6 | 151144789:151144812:151151717:151153341:151160968:151161080 | 151151717:151153341 | ENSG00000120278.10 | ENST00000367328.1,ENST00000358517.2 |
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 PLEKHG1 |
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 |
| ENST00000358517 | 151089773 | 151089874 | Frame-shift |
| ENST00000358517 | 151107525 | 151107595 | Frame-shift |
| ENST00000358517 | 151121854 | 151122005 | Frame-shift |
| ENST00000358517 | 151144789 | 151144812 | Frame-shift |
| ENST00000358517 | 151151717 | 151153341 | Frame-shift |
| ENST00000358517 | 151142330 | 151142369 | 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 |
| ENST00000358517 | 151089773 | 151089874 | Frame-shift |
| ENST00000358517 | 151107525 | 151107595 | Frame-shift |
| ENST00000358517 | 151121854 | 151122005 | Frame-shift |
| ENST00000358517 | 151144789 | 151144812 | Frame-shift |
| ENST00000358517 | 151151717 | 151153341 | Frame-shift |
| ENST00000358517 | 151142330 | 151142369 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLEKHG1 |
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 |
| ENST00000358517 | 7153 | 1385 | 151142330 | 151142369 | 1620 | 1658 | 469 | 482 |
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 |
| ENST00000358517 | 7153 | 1385 | 151142330 | 151142369 | 1620 | 1658 | 469 | 482 |
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 |
| Q9ULL1 | 469 | 482 | 1 | 1385 | Chain | ID=PRO_0000080964;Note=Pleckstrin homology domain-containing family G member 1 |
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 |
| Q9ULL1 | 469 | 482 | 1 | 1385 | Chain | ID=PRO_0000080964;Note=Pleckstrin homology domain-containing family G member 1 |
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SNVs in the skipped exons for PLEKHG1 |
- 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. |
PLEKHG1_LUAD_exon_skip_454809_psi_boxplot.png![]() |
PLEKHG1_STAD_exon_skip_454809_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 |
| LUAD | TCGA-86-8673-01 | exon_skip_454801 | 151089774 | 151089874 | 151089793 | 151089793 | Frame_Shift_Del | G | - | p.R144fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_454801 | 151089774 | 151089874 | 151089799 | 151089799 | Frame_Shift_Del | A | - | p.Q146fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_454801 | 151089774 | 151089874 | 151089803 | 151089803 | Frame_Shift_Del | A | - | p.T147fs |
| HNSC | TCGA-BA-A6DA-01 | exon_skip_454801 | 151089774 | 151089874 | 151089835 | 151089835 | Frame_Shift_Del | C | - | p.A158fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_454801 | 151089774 | 151089874 | 151089838 | 151089838 | Frame_Shift_Del | T | - | p.L159fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_454801 | 151089774 | 151089874 | 151089838 | 151089838 | Frame_Shift_Del | T | - | p.L159fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_454804 | 151107526 | 151107595 | 151107591 | 151107591 | Frame_Shift_Del | C | - | p.S193fs |
| UCEC | TCGA-B5-A0K4-01 | exon_skip_454805 | 151121855 | 151122005 | 151121930 | 151121942 | Frame_Shift_Del | GAAACACTCGCTG | - | p.K236fs |
| UCEC | TCGA-B5-A0K4-01 | exon_skip_454805 | 151121855 | 151122005 | 151121930 | 151121942 | Frame_Shift_Del | GAAACACTCGCTG | - | p.L294fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_454806 | 151142331 | 151142369 | 151142343 | 151142343 | Frame_Shift_Del | G | - | p.R474fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_454806 | 151142331 | 151142369 | 151142355 | 151142355 | Frame_Shift_Del | T | - | p.V478fs |
| BRCA | TCGA-EW-A1PA-01 | exon_skip_454809 | 151151718 | 151153341 | 151151728 | 151151731 | Frame_Shift_Del | AGGA | - | p.E495fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_454809 | 151151718 | 151153341 | 151151943 | 151151943 | Frame_Shift_Del | T | - | p.F566fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_454809 | 151151718 | 151153341 | 151151943 | 151151943 | Frame_Shift_Del | T | - | p.F566fs |
| LUAD | TCGA-44-2662-01 | exon_skip_454809 | 151151718 | 151153341 | 151151947 | 151151951 | Frame_Shift_Del | CCTCC | - | p.S567fs |
| LUAD | TCGA-44-2662-01 | exon_skip_454809 | 151151718 | 151153341 | 151151947 | 151151951 | Frame_Shift_Del | CCTCC | - | p.SS567fs |
| STAD | TCGA-BR-4184-01 | exon_skip_454809 | 151151718 | 151153341 | 151152385 | 151152386 | Frame_Shift_Del | TT | - | p.713_713del |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_454809 | 151151718 | 151153341 | 151152549 | 151152549 | Frame_Shift_Del | T | - | p.F768fs |
| KIRP | TCGA-G7-6797-01 | exon_skip_454809 | 151151718 | 151153341 | 151152656 | 151152656 | Frame_Shift_Del | T | - | p.T803fs |
| KIRP | TCGA-G7-6797-01 | exon_skip_454809 | 151151718 | 151153341 | 151152656 | 151152656 | Frame_Shift_Del | T | - | p.T862fs |
| STAD | TCGA-CG-4437-01 | exon_skip_454809 | 151151718 | 151153341 | 151152656 | 151152698 | Frame_Shift_Del | TCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGT | - | p.803_817del |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_454809 | 151151718 | 151153341 | 151153068 | 151153068 | Frame_Shift_Del | C | - | p.P941fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_454809 | 151151718 | 151153341 | 151153126 | 151153126 | Frame_Shift_Del | A | - | p.E960fs |
| STAD | TCGA-CG-5721-01 | exon_skip_454809 | 151151718 | 151153341 | 151153218 | 151153218 | Frame_Shift_Del | A | - | p.A1049fs |
| STAD | TCGA-CG-5721-01 | exon_skip_454809 | 151151718 | 151153341 | 151153218 | 151153218 | Frame_Shift_Del | A | - | p.A990fs |
| LUSC | TCGA-46-3769-01 | exon_skip_454804 | 151107526 | 151107595 | 151107545 | 151107545 | Nonsense_Mutation | G | T | p.E237* |
| STAD | TCGA-HU-A4GN-01 | exon_skip_454809 | 151151718 | 151153341 | 151153326 | 151153326 | Nonsense_Mutation | G | T | p.G1027* |
| STAD | TCGA-HU-A4GN-01 | exon_skip_454809 | 151151718 | 151153341 | 151153326 | 151153326 | Nonsense_Mutation | G | T | p.G1027X |
| LUSC | TCGA-33-6737-01 | exon_skip_454805 | 151121855 | 151122005 | 151121854 | 151121854 | Splice_Site | G | A | p.R269_splice |
| STAD | TCGA-CD-A4MJ-01 | exon_skip_454809 | 151151718 | 151153341 | 151153343 | 151153343 | Splice_Site | T | C | . |
| STAD | TCGA-CD-A4MJ-01 | exon_skip_454809 | 151151718 | 151153341 | 151153343 | 151153343 | Splice_Site | T | C | p.G1032_splice |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 151151718 | 151153341 | 151152385 | 151152386 | Frame_Shift_Del | TT | - | p.L713fs |
| RERFLCFM_LUNG | 151151718 | 151153341 | 151152281 | 151152282 | In_Frame_Ins | - | GCT | p.679_679A>AA |
| CW2_LARGE_INTESTINE | 151089774 | 151089874 | 151089787 | 151089787 | Missense_Mutation | G | A | p.C142Y |
| NCIH748_LUNG | 151089774 | 151089874 | 151089811 | 151089811 | Missense_Mutation | C | G | p.P150R |
| NCIH2023_LUNG | 151107526 | 151107595 | 151107560 | 151107560 | Missense_Mutation | G | T | p.D183Y |
| HEC108_ENDOMETRIUM | 151142331 | 151142369 | 151142350 | 151142350 | Missense_Mutation | T | A | p.H476Q |
| NCIH2722_PLEURA | 151144790 | 151144812 | 151144795 | 151144795 | Missense_Mutation | G | A | p.A485T |
| ASPC1_PANCREAS | 151151718 | 151153341 | 151151770 | 151151770 | Missense_Mutation | C | T | p.A508V |
| HEC251_ENDOMETRIUM | 151151718 | 151153341 | 151151859 | 151151859 | Missense_Mutation | A | C | p.I538L |
| JMSU1_URINARY_TRACT | 151151718 | 151153341 | 151151955 | 151151955 | Missense_Mutation | G | T | p.D570Y |
| HCT15_LARGE_INTESTINE | 151151718 | 151153341 | 151151992 | 151151992 | Missense_Mutation | C | T | p.S582F |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151151718 | 151153341 | 151151998 | 151151998 | Missense_Mutation | G | A | p.R584H |
| JMSU1_URINARY_TRACT | 151151718 | 151153341 | 151152087 | 151152087 | Missense_Mutation | G | A | p.E614K |
| NCIH513_PLEURA | 151151718 | 151153341 | 151152127 | 151152127 | Missense_Mutation | G | A | p.R627K |
| DETROIT562_UPPER_AERODIGESTIVE_TRACT | 151151718 | 151153341 | 151152186 | 151152186 | Missense_Mutation | G | A | p.G647R |
| JMSU1_URINARY_TRACT | 151151718 | 151153341 | 151152231 | 151152231 | Missense_Mutation | G | C | p.D662H |
| NCIH513_PLEURA | 151151718 | 151153341 | 151152246 | 151152246 | Missense_Mutation | G | C | p.E667Q |
| HCC1569_BREAST | 151151718 | 151153341 | 151152288 | 151152288 | Missense_Mutation | T | A | p.S681T |
| SW684_SOFT_TISSUE | 151151718 | 151153341 | 151152316 | 151152316 | Missense_Mutation | C | T | p.S690F |
| BEN_LUNG | 151151718 | 151153341 | 151152523 | 151152523 | Missense_Mutation | G | T | p.S759I |
| SNU398_LIVER | 151151718 | 151153341 | 151152567 | 151152567 | Missense_Mutation | G | A | p.D774N |
| SNU1040_LARGE_INTESTINE | 151151718 | 151153341 | 151152571 | 151152571 | Missense_Mutation | T | C | p.F775S |
| JHH5_LIVER | 151151718 | 151153341 | 151152756 | 151152756 | Missense_Mutation | G | A | p.E837K |
| HEC251_ENDOMETRIUM | 151151718 | 151153341 | 151152768 | 151152768 | Missense_Mutation | G | T | p.D841Y |
| NCIH2170_LUNG | 151151718 | 151153341 | 151152892 | 151152892 | Missense_Mutation | G | A | p.R882Q |
| JHU011_UPPER_AERODIGESTIVE_TRACT | 151151718 | 151153341 | 151152904 | 151152904 | Missense_Mutation | G | A | p.R886H |
| 201T_LUNG | 151151718 | 151153341 | 151152918 | 151152918 | Missense_Mutation | C | A | p.L891M |
| MEWO_SKIN | 151151718 | 151153341 | 151153027 | 151153027 | Missense_Mutation | C | T | p.S927F |
| CCK81_LARGE_INTESTINE | 151151718 | 151153341 | 151153038 | 151153038 | Missense_Mutation | C | A | p.L931I |
| TTC466_BONE | 151151718 | 151153341 | 151153067 | 151153067 | Missense_Mutation | G | T | p.M940I |
| HEYA8_OVARY | 151151718 | 151153341 | 151153111 | 151153111 | Missense_Mutation | C | A | p.S955Y |
| MDAMB453_BREAST | 151151718 | 151153341 | 151153181 | 151153181 | Missense_Mutation | G | A | p.M978I |
| CAL27_UPPER_AERODIGESTIVE_TRACT | 151151718 | 151153341 | 151153327 | 151153327 | Missense_Mutation | G | C | p.G1027A |
| SNU1040_LARGE_INTESTINE | 151151718 | 151153341 | 151153336 | 151153336 | Missense_Mutation | C | T | p.A1030V |
| HEC1A_ENDOMETRIUM | 151151718 | 151153341 | 151151817 | 151151817 | Nonsense_Mutation | C | T | p.R524* |
| NCIH513_PLEURA | 151151718 | 151153341 | 151152412 | 151152412 | Nonsense_Mutation | C | G | p.S722* |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151151718 | 151153341 | 151152764 | 151152764 | Nonsense_Mutation | G | A | p.W839* |
| SIHA_CERVIX | 151151718 | 151153341 | 151153191 | 151153191 | Nonsense_Mutation | C | T | p.Q982* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLEKHG1 |
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 PLEKHG1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHG1 |
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RelatedDrugs for PLEKHG1 |
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 PLEKHG1 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PLEKHG1 | C0040336 | Tobacco Use Disorder | 1 | CTD_human |