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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 PLEKHH2 |
 Gene summary |
| Gene information | Gene symbol | PLEKHH2 | Gene ID | 130271 |
| Gene name | pleckstrin homology, MyTH4 and FERM domain containing H2 | |
| Synonyms | PLEKHH1L | |
| Cytomap | 2p21 | |
| Type of gene | protein-coding | |
| Description | pleckstrin homology domain-containing family H member 2pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8IVE3 | |
| Context | PubMed: PLEKHH2 [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 PLEKHH2 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 PLEKHH2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PLEKHH2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_325122 | 2 | 43871809:43871935:43885804:43886006:43906001:43906064 | 43885804:43886006 | ENSG00000152527.9 | ENST00000405000.2 |
| exon_skip_325123 | 2 | 43906001:43906064:43906655:43906777:43919652:43919802 | 43906655:43906777 | ENSG00000152527.9 | ENST00000491692.1 |
| exon_skip_325125 | 2 | 43924312:43924495:43926785:43927747:43931119:43931195 | 43926785:43927747 | ENSG00000152527.9 | ENST00000282406.4,ENST00000405000.2,ENST00000405223.2 |
| exon_skip_325128 | 2 | 43937358:43937469:43937627:43937714:43939363:43939522 | 43937627:43937714 | ENSG00000152527.9 | ENST00000282406.4,ENST00000405223.2 |
| exon_skip_325136 | 2 | 43965479:43965659:43967954:43968182:43969879:43970057 | 43967954:43968182 | ENSG00000152527.9 | ENST00000480103.1 |
| exon_skip_325139 | 2 | 43965479:43965659:43968084:43968182:43969879:43970057 | 43968084:43968182 | ENSG00000152527.9 | ENST00000282406.4 |
| exon_skip_325141 | 2 | 43965479:43965659:43968084:43968265:43969879:43970057 | 43968084:43968265 | ENSG00000152527.9 | ENST00000405000.2 |
| exon_skip_325144 | 2 | 43980757:43980899:43984257:43984403:43986038:43986168 | 43984257:43984403 | ENSG00000152527.9 | ENST00000282406.4,ENST00000405000.2 |
| exon_skip_325148 | 2 | 43980757:43980899:43986038:43986168:43989442:43989529 | 43986038:43986168 | ENSG00000152527.9 | ENST00000490038.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLEKHH2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_325122 | 2 | 43871809:43871935:43885804:43886006:43906001:43906064 | 43885804:43886006 | ENSG00000152527.9 | ENST00000405000.2 |
| exon_skip_325123 | 2 | 43906001:43906064:43906655:43906777:43919652:43919802 | 43906655:43906777 | ENSG00000152527.9 | ENST00000491692.1 |
| exon_skip_325125 | 2 | 43924312:43924495:43926785:43927747:43931119:43931195 | 43926785:43927747 | ENSG00000152527.9 | ENST00000282406.4,ENST00000405223.2,ENST00000405000.2 |
| exon_skip_325128 | 2 | 43937358:43937469:43937627:43937714:43939363:43939522 | 43937627:43937714 | ENSG00000152527.9 | ENST00000282406.4,ENST00000405223.2 |
| exon_skip_325136 | 2 | 43965479:43965659:43967954:43968182:43969879:43970057 | 43967954:43968182 | ENSG00000152527.9 | ENST00000480103.1 |
| exon_skip_325139 | 2 | 43965479:43965659:43968084:43968182:43969879:43970057 | 43968084:43968182 | ENSG00000152527.9 | ENST00000282406.4 |
| exon_skip_325141 | 2 | 43965479:43965659:43968084:43968265:43969879:43970057 | 43968084:43968265 | ENSG00000152527.9 | ENST00000405000.2 |
| exon_skip_325144 | 2 | 43980757:43980899:43984257:43984403:43986038:43986168 | 43984257:43984403 | ENSG00000152527.9 | ENST00000282406.4,ENST00000405000.2 |
| exon_skip_325148 | 2 | 43980757:43980899:43986038:43986168:43989442:43989529 | 43986038:43986168 | ENSG00000152527.9 | ENST00000490038.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PLEKHH2 |
| 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 |
| ENST00000282406 | 43926785 | 43927747 | Frame-shift |
| ENST00000282406 | 43968084 | 43968182 | Frame-shift |
| ENST00000282406 | 43984257 | 43984403 | Frame-shift |
| ENST00000282406 | 43937627 | 43937714 | 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 |
| ENST00000282406 | 43926785 | 43927747 | Frame-shift |
| ENST00000282406 | 43968084 | 43968182 | Frame-shift |
| ENST00000282406 | 43984257 | 43984403 | Frame-shift |
| ENST00000282406 | 43937627 | 43937714 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLEKHH2 |
| 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 |
| ENST00000282406 | 6998 | 1493 | 43937627 | 43937714 | 2325 | 2411 | 738 | 767 |
| 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 |
| ENST00000282406 | 6998 | 1493 | 43937627 | 43937714 | 2325 | 2411 | 738 | 767 |
| 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 |
| Q8IVE3 | 738 | 767 | 1 | 1493 | Chain | ID=PRO_0000307121;Note=Pleckstrin homology domain-containing family H member 2 |
| Q8IVE3 | 738 | 767 | 703 | 797 | Domain | Note=PH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| 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 |
| Q8IVE3 | 738 | 767 | 1 | 1493 | Chain | ID=PRO_0000307121;Note=Pleckstrin homology domain-containing family H member 2 |
| Q8IVE3 | 738 | 767 | 703 | 797 | Domain | Note=PH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
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SNVs in the skipped exons for PLEKHH2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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_325125 | 43926786 | 43927747 | 43926790 | 43926790 | Frame_Shift_Del | G | - | p.M231fs |
| COAD | TCGA-CM-4743-01 | exon_skip_325125 | 43926786 | 43927747 | 43927259 | 43927259 | Frame_Shift_Del | A | - | p.N387fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_325148 | 43986039 | 43986168 | 43986149 | 43986149 | Frame_Shift_Del | C | - | p.A1351fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_325148 | 43986039 | 43986168 | 43986157 | 43986157 | Frame_Shift_Del | T | - | p.F1354fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_325125 | 43926786 | 43927747 | 43927222 | 43927223 | Frame_Shift_Ins | - | A | p.RK375fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_325125 | 43926786 | 43927747 | 43927381 | 43927382 | Frame_Shift_Ins | - | C | p.T428fs |
| STAD | TCGA-IN-AB1X-01 | exon_skip_325125 | 43926786 | 43927747 | 43927177 | 43927177 | Nonsense_Mutation | G | A | p.W360* |
| STAD | TCGA-IN-AB1X-01 | exon_skip_325125 | 43926786 | 43927747 | 43927177 | 43927177 | Nonsense_Mutation | G | A | p.W360X |
| SKCM | TCGA-EE-A2A5-06 | exon_skip_325125 | 43926786 | 43927747 | 43927268 | 43927268 | Nonsense_Mutation | C | T | p.Q391* |
| SKCM | TCGA-EE-A2A5-06 | exon_skip_325125 | 43926786 | 43927747 | 43927268 | 43927268 | Nonsense_Mutation | C | T | p.Q391X |
| HNSC | TCGA-BB-A5HZ-01 | exon_skip_325125 | 43926786 | 43927747 | 43927382 | 43927382 | Nonsense_Mutation | C | T | p.Q429* |
| READ | TCGA-EI-6917-01 | exon_skip_325125 | 43926786 | 43927747 | 43927553 | 43927553 | Nonsense_Mutation | G | T | p.E486X |
| LUAD | TCGA-MP-A4TC-01 | exon_skip_325148 | 43986039 | 43986168 | 43986102 | 43986102 | Nonsense_Mutation | T | A | p.C1335* |
| LUSC | TCGA-18-3406-01 | exon_skip_325148 | 43986039 | 43986168 | 43986038 | 43986038 | Splice_Site | G | A | p.R1314_splice |
| - 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 |
| HEC6_ENDOMETRIUM | 43926786 | 43927747 | 43927727 | 43927728 | Frame_Shift_Ins | - | A | p.L544fs |
| SNUC5_LARGE_INTESTINE | 43926786 | 43927747 | 43926864 | 43926864 | Missense_Mutation | C | A | p.P256H |
| HCC2998_LARGE_INTESTINE | 43926786 | 43927747 | 43926889 | 43926889 | Missense_Mutation | A | C | p.K264N |
| SW48_LARGE_INTESTINE | 43926786 | 43927747 | 43926914 | 43926914 | Missense_Mutation | G | T | p.G273C |
| VMCUB1_URINARY_TRACT | 43926786 | 43927747 | 43926987 | 43926987 | Missense_Mutation | G | A | p.R297K |
| HEC265_ENDOMETRIUM | 43926786 | 43927747 | 43927013 | 43927013 | Missense_Mutation | C | T | p.L306F |
| HS746T_STOMACH | 43926786 | 43927747 | 43927062 | 43927062 | Missense_Mutation | G | T | p.S322I |
| PANC0504_PANCREAS | 43926786 | 43927747 | 43927083 | 43927083 | Missense_Mutation | C | G | p.S329C |
| ABC1_LUNG | 43926786 | 43927747 | 43927139 | 43927139 | Missense_Mutation | C | T | p.H348Y |
| LU99_LUNG | 43926786 | 43927747 | 43927139 | 43927139 | Missense_Mutation | C | T | p.H348Y |
| LS123_LARGE_INTESTINE | 43926786 | 43927747 | 43927239 | 43927239 | Missense_Mutation | G | C | p.S381T |
| NCIH1355_LUNG | 43926786 | 43927747 | 43927251 | 43927251 | Missense_Mutation | A | T | p.E385V |
| NB7_AUTONOMIC_GANGLIA | 43926786 | 43927747 | 43927317 | 43927317 | Missense_Mutation | C | A | p.P407Q |
| A1207_CENTRAL_NERVOUS_SYSTEM | 43926786 | 43927747 | 43927446 | 43927446 | Missense_Mutation | G | A | p.S450N |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43926786 | 43927747 | 43927451 | 43927451 | Missense_Mutation | G | T | p.A452S |
| HT115_LARGE_INTESTINE | 43926786 | 43927747 | 43927497 | 43927497 | Missense_Mutation | G | A | p.R467K |
| PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43926786 | 43927747 | 43927534 | 43927534 | Missense_Mutation | A | G | p.I479M |
| MMACSF_SKIN | 43926786 | 43927747 | 43927534 | 43927534 | Missense_Mutation | A | G | p.I479M |
| NCIH1651_LUNG | 43926786 | 43927747 | 43927574 | 43927574 | Missense_Mutation | G | C | p.D493H |
| COLO680N_OESOPHAGUS | 43926786 | 43927747 | 43927653 | 43927653 | Missense_Mutation | C | G | p.S519C |
| NCIH1105_LUNG | 43926786 | 43927747 | 43927686 | 43927686 | Missense_Mutation | C | T | p.S530L |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43926786 | 43927747 | 43927701 | 43927701 | Missense_Mutation | C | T | p.A535V |
| SNU1040_LARGE_INTESTINE | 43968085 | 43968182 | 43968125 | 43968125 | Missense_Mutation | C | T | p.P1055L |
| SNU1040_LARGE_INTESTINE | 43967955 | 43968182 | 43968125 | 43968125 | Missense_Mutation | C | T | p.P1055L |
| SNU1040_LARGE_INTESTINE | 43968085 | 43968265 | 43968125 | 43968125 | Missense_Mutation | C | T | p.P1055L |
| NCIH841_LUNG | 43984258 | 43984403 | 43984307 | 43984307 | Missense_Mutation | T | C | p.V1282A |
| KYSE520_OESOPHAGUS | 43986039 | 43986168 | 43986055 | 43986055 | Missense_Mutation | C | A | p.L1320I |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43986039 | 43986168 | 43986055 | 43986055 | Missense_Mutation | C | A | p.L1320I |
| MDAMB330_BREAST | 43986039 | 43986168 | 43986094 | 43986094 | Missense_Mutation | G | T | p.A1333S |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43986039 | 43986168 | 43986106 | 43986106 | Missense_Mutation | C | T | p.R1337C |
| SNU81_LARGE_INTESTINE | 43926786 | 43927747 | 43927064 | 43927064 | Nonsense_Mutation | G | T | p.E323* |
| SNU719_STOMACH | 43984258 | 43984403 | 43984402 | 43984402 | Splice_Site | A | T | p.R1314W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLEKHH2 |
| 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 PLEKHH2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHH2 |
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RelatedDrugs for PLEKHH2 |
| 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 PLEKHH2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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