|
||||||
|
 | |
| |
| |
| |
| 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 PLEKHG4B |
 Gene summary |
| Gene information | Gene symbol | PLEKHG4B | Gene ID | 153478 |
| Gene name | pleckstrin homology and RhoGEF domain containing G4B | |
| Synonyms | - | |
| Cytomap | 5p15.33 | |
| Type of gene | protein-coding | |
| Description | pleckstrin homology domain-containing family G member 4BPH domain-containing family G member 4Bpleckstrin homology domain containing, family G (with RhoGef domain) member 4B | |
| Modification date | 20180403 | |
| UniProtAcc | Q96PX9 | |
| Context | PubMed: PLEKHG4B [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 PLEKHG4B 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 PLEKHG4B |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PLEKHG4B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_433561 | 5 | 143494:143618:144941:145035:151627:151714 | 144941:145035 | ENSG00000153404.9 | ENST00000502646.1,ENST00000283426.6 |
| exon_skip_433562 | 5 | 144941:145035:151627:151714:154989:155106 | 151627:151714 | ENSG00000153404.9 | ENST00000502646.1,ENST00000283426.6 |
| exon_skip_433574 | 5 | 161897:162059:162836:163663:169454:169707 | 162836:163663 | ENSG00000153404.9 | ENST00000283426.6 |
| exon_skip_433576 | 5 | 169454:169707:171157:171247:171328:171559 | 171157:171247 | ENSG00000153404.9 | ENST00000504041.1,ENST00000283426.6 |
| exon_skip_433579 | 5 | 173011:173182:174032:174213:181628:181790 | 174032:174213 | ENSG00000153404.9 | ENST00000283426.6 |
| exon_skip_433582 | 5 | 174100:174213:179665:179869:181628:181790 | 179665:179869 | ENSG00000153404.9 | ENST00000504041.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PLEKHG4B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_433562 | 5 | 144941:145035:151627:151714:154989:155106 | 151627:151714 | ENSG00000153404.9 | ENST00000283426.6,ENST00000502646.1 |
| exon_skip_433574 | 5 | 161897:162059:162836:163663:169454:169707 | 162836:163663 | ENSG00000153404.9 | ENST00000283426.6 |
| exon_skip_433576 | 5 | 169454:169707:171157:171247:171328:171559 | 171157:171247 | ENSG00000153404.9 | ENST00000283426.6,ENST00000504041.1 |
| exon_skip_433582 | 5 | 174100:174213:179665:179869:181628:181790 | 179665:179869 | ENSG00000153404.9 | ENST00000504041.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PLEKHG4B |
| 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 |
| ENST00000283426 | 144941 | 145035 | Frame-shift |
| ENST00000283426 | 162836 | 163663 | Frame-shift |
| ENST00000283426 | 174032 | 174213 | Frame-shift |
| ENST00000283426 | 151627 | 151714 | In-frame |
| ENST00000283426 | 171157 | 171247 | 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 |
| ENST00000283426 | 162836 | 163663 | Frame-shift |
| ENST00000283426 | 151627 | 151714 | In-frame |
| ENST00000283426 | 171157 | 171247 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PLEKHG4B |
| 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 |
| ENST00000283426 | 11530 | 1271 | 151627 | 151714 | 888 | 974 | 279 | 308 |
| ENST00000283426 | 11530 | 1271 | 171157 | 171247 | 2712 | 2801 | 887 | 917 |
| 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 |
| ENST00000283426 | 11530 | 1271 | 151627 | 151714 | 888 | 974 | 279 | 308 |
| ENST00000283426 | 11530 | 1271 | 171157 | 171247 | 2712 | 2801 | 887 | 917 |
| 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 |
| Q96PX9 | 279 | 308 | 1 | 1271 | Chain | ID=PRO_0000317286;Note=Pleckstrin homology domain-containing family G member 4B |
| Q96PX9 | 887 | 917 | 1 | 1271 | Chain | ID=PRO_0000317286;Note=Pleckstrin homology domain-containing family G member 4B |
| Q96PX9 | 887 | 917 | 805 | 984 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| 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 |
| Q96PX9 | 279 | 308 | 1 | 1271 | Chain | ID=PRO_0000317286;Note=Pleckstrin homology domain-containing family G member 4B |
| Q96PX9 | 887 | 917 | 1 | 1271 | Chain | ID=PRO_0000317286;Note=Pleckstrin homology domain-containing family G member 4B |
| Q96PX9 | 887 | 917 | 805 | 984 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
Top |
SNVs in the skipped exons for PLEKHG4B |
| - 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 |
| BLCA | TCGA-BT-A2LD-01 | exon_skip_433574 | 162837 | 163663 | 162962 | 162962 | Frame_Shift_Del | G | - | p.V569fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_433574 | 162837 | 163663 | 162986 | 162986 | Frame_Shift_Del | G | - | p.L577fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_433574 | 162837 | 163663 | 163106 | 163106 | Frame_Shift_Del | C | - | p.S617fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_433574 | 162837 | 163663 | 163106 | 163106 | Frame_Shift_Del | C | - | p.S617fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_433574 | 162837 | 163663 | 163182 | 163182 | Frame_Shift_Del | G | - | p.G645fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_433574 | 162837 | 163663 | 163205 | 163205 | Frame_Shift_Del | G | - | p.A650fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_433574 | 162837 | 163663 | 163254 | 163254 | Frame_Shift_Del | G | - | p.G667fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_433574 | 162837 | 163663 | 163580 | 163580 | Frame_Shift_Del | C | - | p.S775fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_433574 | 162837 | 163663 | 163580 | 163580 | Frame_Shift_Del | C | - | p.S775fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_433574 | 162837 | 163663 | 163580 | 163580 | Frame_Shift_Del | C | - | p.P777fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_433574 | 162837 | 163663 | 163580 | 163580 | Frame_Shift_Del | C | - | p.S775fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_433576 | 171158 | 171247 | 171191 | 171191 | Frame_Shift_Del | A | - | p.K899fs |
| KIRC | TCGA-A3-3316-01 | exon_skip_433574 | 162837 | 163663 | 163105 | 163106 | Frame_Shift_Ins | - | C | p.T617fs |
| SKCM | TCGA-BF-AAP1-01 | exon_skip_433574 | 162837 | 163663 | 163579 | 163580 | Frame_Shift_Ins | - | C | p.T775fs |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_433562 | 151628 | 151714 | 151676 | 151676 | Nonsense_Mutation | G | T | p.E296* |
| SKCM | TCGA-EE-A3AF-06 | exon_skip_433574 | 162837 | 163663 | 163455 | 163455 | Nonsense_Mutation | C | T | p.Q734* |
| SKCM | TCGA-EE-A3AF-06 | exon_skip_433574 | 162837 | 163663 | 163455 | 163455 | Nonsense_Mutation | C | T | p.Q734X |
| THYM | TCGA-ZB-A96E-01 | exon_skip_433579 | 174033 | 174213 | 174164 | 174164 | Nonsense_Mutation | G | A | p.W1095* |
| THYM | TCGA-ZB-A96E-01 | exon_skip_433579 | 174033 | 174213 | 174164 | 174164 | Nonsense_Mutation | G | A | p.W1095X |
| - 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 |
| SNU886_LIVER | 174033 | 174213 | 174051 | 174052 | Frame_Shift_Del | AC | - | p.T1058fs |
| OVTOKO_OVARY | 144942 | 145035 | 145001 | 145001 | Missense_Mutation | C | A | p.A268D |
| NCC021_KIDNEY | 144942 | 145035 | 145003 | 145003 | Missense_Mutation | C | A | p.P269T |
| AN3CA_ENDOMETRIUM | 144942 | 145035 | 145024 | 145024 | Missense_Mutation | T | C | p.S276P |
| EKVX_LUNG | 162837 | 163663 | 162864 | 162864 | Missense_Mutation | C | A | p.P537T |
| HEC1A_ENDOMETRIUM | 162837 | 163663 | 162889 | 162889 | Missense_Mutation | T | C | p.V545A |
| HEC1_ENDOMETRIUM | 162837 | 163663 | 162889 | 162889 | Missense_Mutation | T | C | p.V545A |
| SUPB8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 162837 | 163663 | 163075 | 163075 | Missense_Mutation | C | A | p.P607Q |
| IM9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 162837 | 163663 | 163110 | 163110 | Missense_Mutation | C | A | p.P619T |
| HCC2998_LARGE_INTESTINE | 162837 | 163663 | 163126 | 163126 | Missense_Mutation | C | T | p.A624V |
| SF268_CENTRAL_NERVOUS_SYSTEM | 162837 | 163663 | 163164 | 163164 | Missense_Mutation | T | C | p.F637L |
| MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 162837 | 163663 | 163267 | 163267 | Missense_Mutation | G | A | p.R671H |
| HT115_LARGE_INTESTINE | 162837 | 163663 | 163267 | 163267 | Missense_Mutation | G | A | p.R671H |
| HCT15_LARGE_INTESTINE | 162837 | 163663 | 163330 | 163330 | Missense_Mutation | C | T | p.A692V |
| HEC108_ENDOMETRIUM | 162837 | 163663 | 163336 | 163336 | Missense_Mutation | C | T | p.T694M |
| NCIH1876_LUNG | 162837 | 163663 | 163336 | 163336 | Missense_Mutation | C | A | p.T694K |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 162837 | 163663 | 163339 | 163339 | Missense_Mutation | C | T | p.A695V |
| OVMANA_OVARY | 162837 | 163663 | 163339 | 163339 | Missense_Mutation | C | T | p.A695V |
| ECGI10_OESOPHAGUS | 162837 | 163663 | 163339 | 163339 | Missense_Mutation | C | T | p.A695V |
| MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 162837 | 163663 | 163339 | 163339 | Missense_Mutation | C | T | p.A695V |
| RERFLCKJ_LUNG | 162837 | 163663 | 163339 | 163339 | Missense_Mutation | C | T | p.A695V |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 162837 | 163663 | 163359 | 163359 | Missense_Mutation | G | A | p.A702T |
| JHUEM1_ENDOMETRIUM | 162837 | 163663 | 163365 | 163365 | Missense_Mutation | T | C | p.S704P |
| RPMI7951_SKIN | 162837 | 163663 | 163371 | 163371 | Missense_Mutation | G | A | p.E706K |
| MALME3M_SKIN | 162837 | 163663 | 163381 | 163381 | Missense_Mutation | A | G | p.Q709R |
| DETROIT562_UPPER_AERODIGESTIVE_TRACT | 162837 | 163663 | 163381 | 163381 | Missense_Mutation | A | G | p.Q709R |
| LNCAPCLONEFGC_PROSTATE | 162837 | 163663 | 163474 | 163474 | Missense_Mutation | G | T | p.R740M |
| HEC108_ENDOMETRIUM | 162837 | 163663 | 163558 | 163558 | Missense_Mutation | C | T | p.P768L |
| SNU668_STOMACH | 162837 | 163663 | 163573 | 163573 | Missense_Mutation | C | G | p.A773G |
| KD_SOFT_TISSUE | 162837 | 163663 | 163602 | 163602 | Missense_Mutation | A | G | p.S783G |
| SW13_ADRENAL_CORTEX | 162837 | 163663 | 163623 | 163623 | Missense_Mutation | C | T | p.L790F |
| HCC1419_BREAST | 162837 | 163663 | 163630 | 163630 | Missense_Mutation | C | A | p.P792H |
| 647V_URINARY_TRACT | 162837 | 163663 | 163640 | 163640 | Missense_Mutation | G | C | p.E795D |
| HCC1937_BREAST | 171158 | 171247 | 171201 | 171201 | Missense_Mutation | C | T | p.P902L |
| HCC1937_MATCHED_NORMAL_TISSUE | 171158 | 171247 | 171201 | 171201 | Missense_Mutation | C | T | p.P902L |
| NCIH2342_LUNG | 174033 | 174213 | 174078 | 174078 | Missense_Mutation | A | T | p.R1067W |
| HCC38_MATCHED_NORMAL_TISSUE | 174033 | 174213 | 174081 | 174081 | Missense_Mutation | T | G | p.F1068V |
| UACC257_SKIN | 174033 | 174213 | 174121 | 174121 | Missense_Mutation | C | T | p.T1081I |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 174033 | 174213 | 174181 | 174181 | Missense_Mutation | G | T | p.R1101M |
| NCIH510_LUNG | 174033 | 174213 | 174195 | 174195 | Missense_Mutation | C | A | p.Q1106K |
| MFE319_ENDOMETRIUM | 144942 | 145035 | 144942 | 144942 | Splice_Site | G | A | p.R248R |
| M14_SKIN | 144942 | 145035 | 144942 | 144942 | Splice_Site | G | A | p.R248R |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLEKHG4B |
| 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 PLEKHG4B |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHG4B |
Top |
RelatedDrugs for PLEKHG4B |
| 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 PLEKHG4B |
| 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)
|