|
||||||
|
 | |
| |
| |
| |
| 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 PLEKHG7 |
 Gene summary |
| Gene information | Gene symbol | PLEKHG7 | Gene ID | 440107 |
| Gene name | pleckstrin homology and RhoGEF domain containing G7 | |
| Synonyms | - | |
| Cytomap | 12q22 | |
| Type of gene | protein-coding | |
| Description | pleckstrin homology domain-containing family G member 7PH domain-containing family G member 7pleckstrin homology domain containing, family G (with RhoGef domain) member 7 | |
| Modification date | 20180403 | |
| UniProtAcc | Q6ZR37 | |
| Context | PubMed: PLEKHG7 [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 |
Top |
Exon skipping events across known transcript of Ensembl for PLEKHG7 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. |
 |
Top |
Gene isoform structures and expression levels for PLEKHG7 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PLEKHG7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85746 | 12 | 93135266:93135368:93139253:93139367:93147865:93148040 | 93139253:93139367 | ENSG00000187510.3 | ENST00000344636.3 |
| exon_skip_85747 | 12 | 93147865:93148040:93149600:93149716:93150073:93150167 | 93149600:93149716 | ENSG00000187510.3 | ENST00000344636.3 |
| exon_skip_85749 | 12 | 93150073:93150167:93155527:93155607:93157816:93157970 | 93155527:93155607 | ENSG00000187510.3 | ENST00000344636.3 |
| exon_skip_85750 | 12 | 93157816:93157970:93162758:93162856:93163863:93166231 | 93162758:93162856 | ENSG00000187510.3 | ENST00000344636.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PLEKHG7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85746 | 12 | 93135266:93135368:93139253:93139367:93147865:93148040 | 93139253:93139367 | ENSG00000187510.3 | ENST00000344636.3 |
| exon_skip_85747 | 12 | 93147865:93148040:93149600:93149716:93150073:93150167 | 93149600:93149716 | ENSG00000187510.3 | ENST00000344636.3 |
| exon_skip_85749 | 12 | 93150073:93150167:93155527:93155607:93157816:93157970 | 93155527:93155607 | ENSG00000187510.3 | ENST00000344636.3 |
| exon_skip_85750 | 12 | 93157816:93157970:93162758:93162856:93163863:93166231 | 93162758:93162856 | ENSG00000187510.3 | ENST00000344636.3 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PLEKHG7 |
| 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 |
Top |
Infer the effects of exon skipping event on protein functional features for PLEKHG7 |
| 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 |
Top |
SNVs in the skipped exons for PLEKHG7 |
| - 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-A1EG-01 | exon_skip_85747 | 93149601 | 93149716 | 93149640 | 93149640 | Frame_Shift_Del | A | - | p.Q177fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_85750 | 93162759 | 93162856 | 93162795 | 93162795 | Frame_Shift_Del | A | - | p.E324fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_85750 | 93162759 | 93162856 | 93162853 | 93162854 | Frame_Shift_Ins | - | A | p.IK343fs |
| HNSC | TCGA-CN-A49C-01 | exon_skip_85750 | 93162759 | 93162856 | 93162805 | 93162805 | Nonsense_Mutation | T | G | p.Y327* |
| BLCA | TCGA-XF-AAMZ-01 | exon_skip_85750 | 93162759 | 93162856 | 93162806 | 93162806 | Nonsense_Mutation | C | T | p.R328* |
| CESC | TCGA-EA-A3HU-01 | exon_skip_85750 | 93162759 | 93162856 | 93162806 | 93162806 | Nonsense_Mutation | C | T | p.R328* |
| - 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 |
| NCIH1688_LUNG | 93149601 | 93149716 | 93149688 | 93149688 | Missense_Mutation | A | C | p.D193A |
| KYSE410_OESOPHAGUS | 93155528 | 93155607 | 93155552 | 93155552 | Missense_Mutation | A | C | p.Y242S |
| CALU6_LUNG | 93155528 | 93155607 | 93155557 | 93155557 | Missense_Mutation | T | G | p.F244V |
| KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93155528 | 93155607 | 93155557 | 93155557 | Missense_Mutation | T | C | p.F244L |
| HT115_LARGE_INTESTINE | 93162759 | 93162856 | 93162806 | 93162806 | Nonsense_Mutation | C | T | p.R328* |
| HEC59_ENDOMETRIUM | 93149601 | 93149716 | 93149602 | 93149602 | Splice_Site | G | T | p.R164R |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLEKHG7 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHG7 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHG7 |
Top |
RelatedDrugs for PLEKHG7 |
| 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 |
Top |
RelatedDiseases for PLEKHG7 |
| 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)
|