|
||||||
|
 | |
| |
| |
| |
| 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 PLEKHB1 |
 Gene summary |
| Gene information | Gene symbol | PLEKHB1 | Gene ID | 58473 |
| Gene name | pleckstrin homology domain containing B1 | |
| Synonyms | KPL1|PHR1|PHRET1 | |
| Cytomap | 11q13.4 | |
| Type of gene | protein-coding | |
| Description | pleckstrin homology domain-containing family B member 1PH domain containing, retinal 1PH domain-containing family B member 1PH domain-containing protein in retina 1evectin-1pleckstrin homology domain containing, family B (evectins) member 1pleckstri | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UF11 | |
| Context | PubMed: PLEKHB1 [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 PLEKHB1 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 PLEKHB1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PLEKHB1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_63360 | 11 | 73357623:73357671:73358433:73358574:73360056:73360132 | 73358433:73358574 | ENSG00000021300.9 | ENST00000536527.1 |
| exon_skip_63361 | 11 | 73357623:73357671:73360056:73360132:73361597:73361750 | 73360056:73360132 | ENSG00000021300.9 | ENST00000398492.4 |
| exon_skip_63363 | 11 | 73358733:73358783:73359230:73359323:73360056:73360132 | 73359230:73359323 | ENSG00000021300.9 | ENST00000535582.1 |
| exon_skip_63364 | 11 | 73358733:73358783:73360056:73360132:73361597:73361750 | 73360056:73360132 | ENSG00000021300.9 | ENST00000541760.1,ENST00000398494.4,ENST00000227214.6,ENST00000544532.1,ENST00000546251.1,ENST00000538227.1 |
| exon_skip_63365 | 11 | 73358733:73358783:73360056:73360132:73362832:73362896 | 73360056:73360132 | ENSG00000021300.9 | ENST00000543085.1 |
| exon_skip_63368 | 11 | 73360056:73360132:73361576:73361750:73362832:73362896 | 73361576:73361750 | ENSG00000021300.9 | ENST00000539157.1,ENST00000540431.1 |
| exon_skip_63369 | 11 | 73360056:73360132:73361597:73361750:73362832:73362896 | 73361597:73361750 | ENSG00000021300.9 | ENST00000535129.1,ENST00000541760.1,ENST00000541597.1,ENST00000535582.1,ENST00000398494.4,ENST00000227214.6,ENST00000398492.4,ENST00000543524.1,ENST00000545798.1,ENST00000546251.1,ENST00000538227.1,ENST00000542389.1,ENST00000354190.5 |
| exon_skip_63370 | 11 | 73361597:73361750:73362465:73362614:73362832:73362896 | 73362465:73362614 | ENSG00000021300.9 | ENST00000544532.1 |
| exon_skip_63371 | 11 | 73362832:73362935:73364019:73364059:73371797:73371801 | 73364019:73364059 | ENSG00000021300.9 | ENST00000535129.1,ENST00000541597.1,ENST00000535582.1,ENST00000227214.6,ENST00000398492.4,ENST00000540431.1,ENST00000543524.1,ENST00000538227.1,ENST00000543085.1 |
| exon_skip_63374 | 11 | 73364019:73364059:73364414:73364506:73371797:73371801 | 73364414:73364506 | ENSG00000021300.9 | ENST00000546251.1 |
| exon_skip_63375 | 11 | 73364019:73364059:73366847:73366952:73371797:73371801 | 73366847:73366952 | ENSG00000021300.9 | ENST00000398494.4,ENST00000539157.1,ENST00000542389.1,ENST00000354190.5 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PLEKHB1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_63360 | 11 | 73357623:73357671:73358433:73358574:73360056:73360132 | 73358433:73358574 | ENSG00000021300.9 | ENST00000536527.1 |
| exon_skip_63363 | 11 | 73358733:73358783:73359230:73359323:73360056:73360132 | 73359230:73359323 | ENSG00000021300.9 | ENST00000535582.1 |
| exon_skip_63364 | 11 | 73358733:73358783:73360056:73360132:73361597:73361750 | 73360056:73360132 | ENSG00000021300.9 | ENST00000227214.6,ENST00000398494.4,ENST00000544532.1,ENST00000546251.1,ENST00000538227.1,ENST00000541760.1 |
| exon_skip_63365 | 11 | 73358733:73358783:73360056:73360132:73362832:73362896 | 73360056:73360132 | ENSG00000021300.9 | ENST00000543085.1 |
| exon_skip_63368 | 11 | 73360056:73360132:73361576:73361750:73362832:73362896 | 73361576:73361750 | ENSG00000021300.9 | ENST00000539157.1,ENST00000540431.1 |
| exon_skip_63369 | 11 | 73360056:73360132:73361597:73361750:73362832:73362896 | 73361597:73361750 | ENSG00000021300.9 | ENST00000354190.5,ENST00000398492.4,ENST00000227214.6,ENST00000398494.4,ENST00000545798.1,ENST00000546251.1,ENST00000535582.1,ENST00000538227.1,ENST00000541760.1,ENST00000543524.1,ENST00000541597.1,ENST00000535129.1,ENST00000542389.1 |
| exon_skip_63370 | 11 | 73361597:73361750:73362465:73362614:73362832:73362896 | 73362465:73362614 | ENSG00000021300.9 | ENST00000544532.1 |
| exon_skip_63371 | 11 | 73362832:73362935:73364019:73364059:73371797:73371801 | 73364019:73364059 | ENSG00000021300.9 | ENST00000398492.4,ENST00000227214.6,ENST00000543085.1,ENST00000535582.1,ENST00000538227.1,ENST00000543524.1,ENST00000541597.1,ENST00000535129.1,ENST00000540431.1 |
| exon_skip_63374 | 11 | 73364019:73364059:73364414:73364506:73371797:73371801 | 73364414:73364506 | ENSG00000021300.9 | ENST00000546251.1 |
| exon_skip_63375 | 11 | 73364019:73364059:73366847:73366952:73371797:73371801 | 73366847:73366952 | ENSG00000021300.9 | ENST00000354190.5,ENST00000398494.4,ENST00000539157.1,ENST00000542389.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PLEKHB1 |
| 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 |
| ENST00000354190 | 73361597 | 73361750 | In-frame |
| ENST00000354190 | 73366847 | 73366952 | 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 |
| ENST00000354190 | 73361597 | 73361750 | In-frame |
| ENST00000354190 | 73366847 | 73366952 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PLEKHB1 |
| 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 |
| ENST00000354190 | 2397 | 243 | 73361597 | 73361750 | 526 | 678 | 31 | 82 |
| ENST00000354190 | 2397 | 243 | 73366847 | 73366952 | 822 | 926 | 130 | 165 |
| 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 |
| ENST00000354190 | 2397 | 243 | 73361597 | 73361750 | 526 | 678 | 31 | 82 |
| ENST00000354190 | 2397 | 243 | 73366847 | 73366952 | 822 | 926 | 130 | 165 |
| 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 |
| Q9UF11 | 31 | 82 | 1 | 243 | Chain | ID=PRO_0000053886;Note=Pleckstrin homology domain-containing family B member 1 |
| Q9UF11 | 31 | 82 | 21 | 128 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9UF11 | 130 | 165 | 131 | 165 | Alternative sequence | ID=VSP_009780;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10585447,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:10585447,PMID:14702039,PMID:15489334 |
| Q9UF11 | 130 | 165 | 1 | 243 | Chain | ID=PRO_0000053886;Note=Pleckstrin homology domain-containing family B 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 |
| Q9UF11 | 31 | 82 | 1 | 243 | Chain | ID=PRO_0000053886;Note=Pleckstrin homology domain-containing family B member 1 |
| Q9UF11 | 31 | 82 | 21 | 128 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9UF11 | 130 | 165 | 131 | 165 | Alternative sequence | ID=VSP_009780;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10585447,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:10585447,PMID:14702039,PMID:15489334 |
| Q9UF11 | 130 | 165 | 1 | 243 | Chain | ID=PRO_0000053886;Note=Pleckstrin homology domain-containing family B member 1 |
Top |
SNVs in the skipped exons for PLEKHB1 |
| - 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-A3A0-01 | exon_skip_63361 exon_skip_63364 exon_skip_63365 | 73360057 | 73360132 | 73360086 | 73360086 | Frame_Shift_Del | T | - | p.P16fs |
| BLCA | TCGA-XF-A9T8-01 | exon_skip_63368 exon_skip_63369 | 73361577 | 73361750 | 73361616 | 73361616 | Nonsense_Mutation | G | A | p.W38* |
| BLCA | TCGA-XF-A9T8-01 | exon_skip_63368 exon_skip_63369 | 73361598 | 73361750 | 73361616 | 73361616 | Nonsense_Mutation | G | A | p.W38* |
| - 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 |
| 59M_OVARY | 73360057 | 73360132 | 73360108 | 73360108 | Missense_Mutation | A | G | p.R24G |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73361577 | 73361750 | 73361652 | 73361652 | Missense_Mutation | C | A | p.T50N |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73361598 | 73361750 | 73361652 | 73361652 | Missense_Mutation | C | A | p.T50N |
| LU99_LUNG | 73361577 | 73361750 | 73361661 | 73361661 | Missense_Mutation | A | G | p.Y53C |
| LU99_LUNG | 73361598 | 73361750 | 73361661 | 73361661 | Missense_Mutation | A | G | p.Y53C |
| SNU1040_LARGE_INTESTINE | 73361577 | 73361750 | 73361679 | 73361679 | Missense_Mutation | C | T | p.A59V |
| SNU1040_LARGE_INTESTINE | 73361598 | 73361750 | 73361679 | 73361679 | Missense_Mutation | C | T | p.A59V |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73361577 | 73361750 | 73361684 | 73361684 | Missense_Mutation | G | T | p.D61Y |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73361598 | 73361750 | 73361684 | 73361684 | Missense_Mutation | G | T | p.D61Y |
| ECGI10_OESOPHAGUS | 73361577 | 73361750 | 73361696 | 73361696 | Missense_Mutation | C | T | p.R65C |
| ECGI10_OESOPHAGUS | 73361598 | 73361750 | 73361696 | 73361696 | Missense_Mutation | C | T | p.R65C |
| NO10_CENTRAL_NERVOUS_SYSTEM | 73366848 | 73366952 | 73366872 | 73366872 | Missense_Mutation | C | A | p.P139T |
| DOV13_OVARY | 73366848 | 73366952 | 73366935 | 73366935 | Missense_Mutation | G | A | p.V160I |
| HS294T_SKIN | 73366848 | 73366952 | 73366935 | 73366935 | Missense_Mutation | G | A | p.V160I |
| COLO794_SKIN | 73360057 | 73360132 | 73360130 | 73360133 | Splice_Site | AGAG | - | p.Q31fs |
| COLO800_SKIN | 73360057 | 73360132 | 73360130 | 73360133 | Splice_Site | AGAG | - | p.Q31fs |
| DKMG_CENTRAL_NERVOUS_SYSTEM | 73364020 | 73364059 | 73364058 | 73364058 | Splice_Site | C | T | p.P130L |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLEKHB1 |
| 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 PLEKHB1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHB1 |
Top |
RelatedDrugs for PLEKHB1 |
| 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 PLEKHB1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PLEKHB1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|