|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for PLEKHH1 |
 Gene summary |
| Gene information | Gene symbol | PLEKHH1 | Gene ID | 57475 |
| Gene name | pleckstrin homology, MyTH4 and FERM domain containing H1 | |
| Synonyms | - | |
| Cytomap | 14q24.1 | |
| Type of gene | protein-coding | |
| Description | pleckstrin homology domain-containing family H member 1PH domain-containing family H member 1pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for PLEKHH1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
 |
ENSG00000054690
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
 |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000558214.1 | PLEKHH1-203:retained_intron:PLEKHH1 | 1.143848e+02 | 1.083865e+00 | 2.154896e-08 | 4.443738e-06 |
| PG | UP | ENST00000559168.1 | PLEKHH1-208:nonsense_mediated_decay:PLEKHH1 | 9.826736e+00 | 1.154273e+00 | 5.008831e-03 | 4.578162e-02 |
| PG | UP | ENST00000559832.1 | PLEKHH1-210:lncRNA:PLEKHH1 | 7.205886e-01 | 9.266662e-01 | 5.103583e-03 | 4.632399e-02 |
| CB | DOWN | ENST00000558214.1 | PLEKHH1-203:retained_intron:PLEKHH1 | 1.467573e+03 | -8.407763e-01 | 1.065487e-13 | 2.392687e-11 |
| CB | DOWN | ENST00000559168.1 | PLEKHH1-208:nonsense_mediated_decay:PLEKHH1 | 1.062514e+02 | -1.480545e+00 | 7.375141e-12 | 7.611684e-10 |
| TC | DOWN | ENST00000558214.1 | PLEKHH1-203:retained_intron:PLEKHH1 | 1.551746e+03 | -1.173195e+00 | 4.600678e-13 | 1.872340e-10 |
| TC | DOWN | ENST00000559168.1 | PLEKHH1-208:nonsense_mediated_decay:PLEKHH1 | 1.483751e+02 | -1.402530e+00 | 7.064143e-12 | 1.959103e-09 |
| TC | DOWN | ENST00000558981.5 | PLEKHH1-207:retained_intron:PLEKHH1 | 3.166811e+02 | -8.117686e-01 | 1.447298e-06 | 5.411378e-05 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PLEKHH1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_104747 | chr14 | 67583741:67583883:67583995:67584124:67585568:67585602 | 67583995:67584124 |
| exon_skip_14762 | chr14 | 67574242:67574403:67575392:67575472:67575823:67576005 | 67575392:67575472 |
| exon_skip_150084 | chr14 | 67562695:67562894:67569138:67569216:67569921:67570012 | 67569138:67569216 |
| exon_skip_154517 | chr14 | 67562137:67562894:67569138:67569216:67569921:67570012 | 67569138:67569216 |
| exon_skip_161569 | chr14 | 67569138:67569216:67569921:67570012:67571752:67571902 | 67569921:67570012 |
| exon_skip_162284 | chr14 | 67575823:67576005:67576395:67576503:67577302:67577414 | 67576395:67576503 |
| exon_skip_190698 | chr14 | 67586016:67586097:67586368:67586456:67586810:67586949 | 67586368:67586456 |
| exon_skip_227861 | chr14 | 67571752:67571902:67572135:67572277:67573276:67573302 | 67572135:67572277 |
| exon_skip_244520 | chr14 | 67586028:67586097:67586368:67586456:67586810:67586949 | 67586368:67586456 |
| exon_skip_248345 | chr14 | 67541844:67541993:67555825:67555887:67557269:67557418 | 67555825:67555887 |
| exon_skip_260814 | chr14 | 67585951:67586097:67586368:67586456:67586810:67586949 | 67586368:67586456 |
| exon_skip_285973 | chr14 | 67562785:67562894:67569138:67569216:67569921:67570012 | 67569138:67569216 |
| exon_skip_296669 | chr14 | 67562293:67562894:67569138:67569216:67569921:67570012 | 67569138:67569216 |
| exon_skip_41003 | chr14 | 67557269:67557418:67559608:67559691:67561954:67562035 | 67559608:67559691 |
| exon_skip_53170 | chr14 | 67555825:67555887:67557269:67557418:67559608:67559691 | 67557269:67557418 |
| exon_skip_62032 | chr14 | 67561954:67562035:67562137:67562894:67569138:67569216 | 67562137:67562894 |
| exon_skip_77249 | chr14 | 67555873:67555887:67557269:67557418:67559608:67559691 | 67557269:67557418 |
| exon_skip_79059 | chr14 | 67541961:67541993:67555825:67555887:67557269:67557418 | 67555825:67555887 |
| exon_skip_87576 | chr14 | 67541834:67541993:67555825:67555887:67557269:67557418 | 67555825:67555887 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PLEKHH1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000329153 | 67562137 | 67562894 | Frame-shift |
| ENST00000329153 | 67569138 | 67569216 | Frame-shift |
| ENST00000329153 | 67583995 | 67584124 | Frame-shift |
| ENST00000329153 | 67555825 | 67555887 | In-frame |
| ENST00000329153 | 67557269 | 67557418 | In-frame |
| ENST00000329153 | 67559608 | 67559691 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000329153 | 67562137 | 67562894 | Frame-shift |
| ENST00000329153 | 67569138 | 67569216 | Frame-shift |
| ENST00000329153 | 67583995 | 67584124 | Frame-shift |
| ENST00000329153 | 67555825 | 67555887 | In-frame |
| ENST00000329153 | 67557269 | 67557418 | In-frame |
| ENST00000329153 | 67559608 | 67559691 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000329153 | 67562137 | 67562894 | Frame-shift |
| ENST00000329153 | 67569138 | 67569216 | Frame-shift |
| ENST00000329153 | 67569921 | 67570012 | Frame-shift |
| ENST00000329153 | 67572135 | 67572277 | Frame-shift |
| ENST00000329153 | 67576395 | 67576503 | Frame-shift |
| ENST00000329153 | 67583995 | 67584124 | Frame-shift |
| ENST00000329153 | 67555825 | 67555887 | In-frame |
| ENST00000329153 | 67557269 | 67557418 | In-frame |
| ENST00000329153 | 67559608 | 67559691 | In-frame |
| ENST00000329153 | 67575392 | 67575472 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PLEKHH1 |
p-ENSG00000054690_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000329153 | 6621 | 1364 | 67555825 | 67555887 | 260 | 321 | 42 | 63 |
| ENST00000329153 | 6621 | 1364 | 67557269 | 67557418 | 323 | 471 | 63 | 113 |
| ENST00000329153 | 6621 | 1364 | 67559608 | 67559691 | 473 | 555 | 113 | 141 |
| Loci of skipped exons in MSBB 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 |
| ENST00000329153 | 6621 | 1364 | 67555825 | 67555887 | 260 | 321 | 42 | 63 |
| ENST00000329153 | 6621 | 1364 | 67557269 | 67557418 | 323 | 471 | 63 | 113 |
| ENST00000329153 | 6621 | 1364 | 67559608 | 67559691 | 473 | 555 | 113 | 141 |
| Loci of skipped exons in Mayo 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 |
| ENST00000329153 | 6621 | 1364 | 67555825 | 67555887 | 260 | 321 | 42 | 63 |
| ENST00000329153 | 6621 | 1364 | 67557269 | 67557418 | 323 | 471 | 63 | 113 |
| ENST00000329153 | 6621 | 1364 | 67559608 | 67559691 | 473 | 555 | 113 | 141 |
| ENST00000329153 | 6621 | 1364 | 67575392 | 67575472 | 2222 | 2301 | 696 | 723 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q9ULM0 | 42 | 63 | 1 | 485 | Alternative sequence | ID=VSP_029347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULM0 | 42 | 63 | 1 | 1364 | Chain | ID=PRO_0000310948;Note=Pleckstrin homology domain-containing family H member 1 |
| Q9ULM0 | 42 | 63 | 28 | 169 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9ULM0 | 63 | 113 | 1 | 485 | Alternative sequence | ID=VSP_029347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULM0 | 63 | 113 | 1 | 1364 | Chain | ID=PRO_0000310948;Note=Pleckstrin homology domain-containing family H member 1 |
| Q9ULM0 | 63 | 113 | 28 | 169 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9ULM0 | 63 | 113 | 75 | 75 | Natural variant | ID=VAR_037094;Note=N->S;Dbxref=dbSNP:rs7150973 |
| Q9ULM0 | 63 | 113 | 113 | 113 | Natural variant | ID=VAR_037095;Note=Q->L;Dbxref=dbSNP:rs3825723 |
| Q9ULM0 | 113 | 141 | 1 | 485 | Alternative sequence | ID=VSP_029347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULM0 | 113 | 141 | 1 | 1364 | Chain | ID=PRO_0000310948;Note=Pleckstrin homology domain-containing family H member 1 |
| Q9ULM0 | 113 | 141 | 28 | 169 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9ULM0 | 113 | 141 | 113 | 113 | Natural variant | ID=VAR_037095;Note=Q->L;Dbxref=dbSNP:rs3825723 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q9ULM0 | 42 | 63 | 1 | 485 | Alternative sequence | ID=VSP_029347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULM0 | 42 | 63 | 1 | 1364 | Chain | ID=PRO_0000310948;Note=Pleckstrin homology domain-containing family H member 1 |
| Q9ULM0 | 42 | 63 | 28 | 169 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9ULM0 | 63 | 113 | 1 | 485 | Alternative sequence | ID=VSP_029347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULM0 | 63 | 113 | 1 | 1364 | Chain | ID=PRO_0000310948;Note=Pleckstrin homology domain-containing family H member 1 |
| Q9ULM0 | 63 | 113 | 28 | 169 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9ULM0 | 63 | 113 | 75 | 75 | Natural variant | ID=VAR_037094;Note=N->S;Dbxref=dbSNP:rs7150973 |
| Q9ULM0 | 63 | 113 | 113 | 113 | Natural variant | ID=VAR_037095;Note=Q->L;Dbxref=dbSNP:rs3825723 |
| Q9ULM0 | 113 | 141 | 1 | 485 | Alternative sequence | ID=VSP_029347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULM0 | 113 | 141 | 1 | 1364 | Chain | ID=PRO_0000310948;Note=Pleckstrin homology domain-containing family H member 1 |
| Q9ULM0 | 113 | 141 | 28 | 169 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9ULM0 | 113 | 141 | 113 | 113 | Natural variant | ID=VAR_037095;Note=Q->L;Dbxref=dbSNP:rs3825723 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q9ULM0 | 42 | 63 | 1 | 485 | Alternative sequence | ID=VSP_029347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULM0 | 42 | 63 | 1 | 1364 | Chain | ID=PRO_0000310948;Note=Pleckstrin homology domain-containing family H member 1 |
| Q9ULM0 | 42 | 63 | 28 | 169 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9ULM0 | 63 | 113 | 1 | 485 | Alternative sequence | ID=VSP_029347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULM0 | 63 | 113 | 1 | 1364 | Chain | ID=PRO_0000310948;Note=Pleckstrin homology domain-containing family H member 1 |
| Q9ULM0 | 63 | 113 | 28 | 169 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9ULM0 | 63 | 113 | 75 | 75 | Natural variant | ID=VAR_037094;Note=N->S;Dbxref=dbSNP:rs7150973 |
| Q9ULM0 | 63 | 113 | 113 | 113 | Natural variant | ID=VAR_037095;Note=Q->L;Dbxref=dbSNP:rs3825723 |
| Q9ULM0 | 113 | 141 | 1 | 485 | Alternative sequence | ID=VSP_029347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULM0 | 113 | 141 | 1 | 1364 | Chain | ID=PRO_0000310948;Note=Pleckstrin homology domain-containing family H member 1 |
| Q9ULM0 | 113 | 141 | 28 | 169 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9ULM0 | 113 | 141 | 113 | 113 | Natural variant | ID=VAR_037095;Note=Q->L;Dbxref=dbSNP:rs3825723 |
| Q9ULM0 | 696 | 723 | 1 | 1364 | Chain | ID=PRO_0000310948;Note=Pleckstrin homology domain-containing family H member 1 |
| Q9ULM0 | 696 | 723 | 687 | 796 | Domain | Note=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in PLEKHH1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Top |
SNVs in the skipped exons for PLEKHH1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
Top |
AD stage-associated exon skippint events for PLEKHH1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLEKHH1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_87576 | rs12883810 | chr14:67565518 | 2.087642e-04 | 3.093380e-02 |
Top |
Correlation with RNA binding proteins (RBPs) for PLEKHH1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP4 | exon_skip_216653 | 4.728208e-01 | 3.112235e-10 |
| CB | HNRNPDL | exon_skip_216653 | 4.276770e-01 | 1.879389e-08 |
| CB | NUP42 | exon_skip_216653 | 5.531639e-01 | 3.996190e-14 |
| CB | PABPC4 | exon_skip_216653 | 5.103647e-01 | 6.322786e-12 |
Top |
RelatedDrugs for PLEKHH1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for PLEKHH1 |
| 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)
|