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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 PLCB4 |
 Gene summary |
| Gene information | Gene symbol | PLCB4 | Gene ID | 5332 |
| Gene name | phospholipase C beta 4 | |
| Synonyms | ARCND2|PI-PLC | |
| Cytomap | 20p12.3-p12.2 | |
| Type of gene | protein-coding | |
| Description | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-41-phosphatidyl-D-myo-inositol-4,5-bisphosphatePLC-beta-4dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4))inositoltrisphosphohydrolase | |
| Modification date | 20180519 | |
| UniProtAcc | Q15147 | |
| Context | PubMed: PLCB4 [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 PLCB4 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 PLCB4 |
| 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 PLCB4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_349088 | 20 | 9049453:9049550:9198036:9198099:9288446:9288545 | 9198036:9198099 | ENSG00000101333.12 | ENST00000441846.1 |
| exon_skip_349089 | 20 | 9049747:9049853:9076933:9076989:9198036:9198099 | 9076933:9076989 | ENSG00000101333.12 | ENST00000437503.1 |
| exon_skip_349091 | 20 | 9049747:9049853:9198036:9198099:9288446:9288545 | 9198036:9198099 | ENSG00000101333.12 | ENST00000378473.3,ENST00000334005.3 |
| exon_skip_349092 | 20 | 9076933:9076989:9198036:9198099:9288446:9288545 | 9198036:9198099 | ENSG00000101333.12 | ENST00000407043.2,ENST00000437503.1 |
| exon_skip_349093 | 20 | 9198036:9198099:9288446:9288545:9317772:9317853 | 9288446:9288545 | ENSG00000101333.12 | ENST00000407043.2,ENST00000378473.3,ENST00000437503.1,ENST00000278655.4,ENST00000334005.3,ENST00000416836.1,ENST00000441846.1 |
| exon_skip_349097 | 20 | 9317772:9317853:9318654:9318714:9319540:9319559 | 9318654:9318714 | ENSG00000101333.12 | ENST00000407043.2,ENST00000378473.3,ENST00000437503.1,ENST00000378493.1,ENST00000278655.4,ENST00000334005.3,ENST00000414679.2,ENST00000378501.2,ENST00000441846.1,ENST00000492632.1 |
| exon_skip_349100 | 20 | 9318654:9318714:9319540:9319684:9343542:9343622 | 9319540:9319684 | ENSG00000101333.12 | ENST00000378473.3,ENST00000378493.1,ENST00000278655.4,ENST00000334005.3,ENST00000414679.2,ENST00000378501.2,ENST00000492632.1 |
| exon_skip_349103 | 20 | 9343542:9343622:9346107:9346161:9351860:9351942 | 9346107:9346161 | ENSG00000101333.12 | ENST00000378473.3,ENST00000378493.1,ENST00000278655.4,ENST00000334005.3,ENST00000414679.2,ENST00000378501.2,ENST00000492632.1 |
| exon_skip_349108 | 20 | 9351860:9351942:9352949:9353050:9360700:9360809 | 9352949:9353050 | ENSG00000101333.12 | ENST00000482123.1,ENST00000473151.1 |
| exon_skip_349109 | 20 | 9352949:9353050:9353693:9353751:9360700:9360809 | 9353693:9353751 | ENSG00000101333.12 | ENST00000378473.3,ENST00000464199.1,ENST00000378493.1,ENST00000278655.4,ENST00000334005.3,ENST00000414679.2,ENST00000378501.2,ENST00000492632.1 |
| exon_skip_349110 | 20 | 9371177:9371262:9374234:9374325:9376169:9376265 | 9374234:9374325 | ENSG00000101333.12 | ENST00000378473.3,ENST00000482123.1,ENST00000473151.1,ENST00000464199.1,ENST00000378493.1,ENST00000278655.4,ENST00000334005.3,ENST00000414679.2,ENST00000378501.2,ENST00000492632.1 |
| exon_skip_349115 | 20 | 9382136:9382237:9385959:9385995:9388563:9388705 | 9385959:9385995 | ENSG00000101333.12 | ENST00000378473.3,ENST00000482123.1,ENST00000414679.2 |
| exon_skip_349118 | 20 | 9400453:9400556:9401943:9402108:9404394:9404599 | 9401943:9402108 | ENSG00000101333.12 | ENST00000378473.3,ENST00000482123.1,ENST00000473151.1,ENST00000464199.1,ENST00000378493.1,ENST00000278655.4,ENST00000334005.3,ENST00000414679.2,ENST00000378501.2,ENST00000492632.1 |
| exon_skip_349119 | 20 | 9416206:9416295:9417648:9417799:9424627:9424677 | 9417648:9417799 | ENSG00000101333.12 | ENST00000378473.3,ENST00000482123.1,ENST00000473151.1,ENST00000464199.1,ENST00000378493.1,ENST00000278655.4,ENST00000334005.3,ENST00000414679.2,ENST00000378501.2,ENST00000492632.1 |
| exon_skip_349120 | 20 | 9433993:9434109:9438060:9438136:9440281:9440457 | 9438060:9438136 | ENSG00000101333.12 | ENST00000378473.3,ENST00000482123.1,ENST00000473151.1,ENST00000464199.1,ENST00000378493.1,ENST00000278655.4,ENST00000334005.3,ENST00000414679.2,ENST00000378501.2 |
| exon_skip_349121 | 20 | 9433993:9434109:9438060:9438136:9449217:9449319 | 9438060:9438136 | ENSG00000101333.12 | ENST00000492632.1 |
| exon_skip_349124 | 20 | 9438060:9438136:9440281:9440457:9449217:9449319 | 9440281:9440457 | ENSG00000101333.12 | ENST00000378473.3,ENST00000482123.1,ENST00000473151.1,ENST00000464199.1,ENST00000378493.1,ENST00000278655.4,ENST00000334005.3,ENST00000414679.2,ENST00000378501.2 |
| exon_skip_349125 | 20 | 9440281:9440457:9449217:9449319:9453436:9453494 | 9449217:9449319 | ENSG00000101333.12 | ENST00000378473.3,ENST00000482123.1,ENST00000473151.1,ENST00000464199.1,ENST00000378493.1,ENST00000278655.4,ENST00000334005.3,ENST00000414679.2,ENST00000378501.2 |
| exon_skip_349126 | 20 | 9453925:9454012:9457363:9457400:9459567:9460004 | 9457363:9457400 | ENSG00000101333.12 | ENST00000334005.3,ENST00000378501.2,ENST00000492632.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLCB4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_349088 | 20 | 9049453:9049550:9198036:9198099:9288446:9288545 | 9198036:9198099 | ENSG00000101333.12 | ENST00000441846.1 |
| exon_skip_349089 | 20 | 9049747:9049853:9076933:9076989:9198036:9198099 | 9076933:9076989 | ENSG00000101333.12 | ENST00000437503.1 |
| exon_skip_349091 | 20 | 9049747:9049853:9198036:9198099:9288446:9288545 | 9198036:9198099 | ENSG00000101333.12 | ENST00000334005.3,ENST00000378473.3 |
| exon_skip_349092 | 20 | 9076933:9076989:9198036:9198099:9288446:9288545 | 9198036:9198099 | ENSG00000101333.12 | ENST00000407043.2,ENST00000437503.1 |
| exon_skip_349093 | 20 | 9198036:9198099:9288446:9288545:9317772:9317853 | 9288446:9288545 | ENSG00000101333.12 | ENST00000407043.2,ENST00000441846.1,ENST00000334005.3,ENST00000378473.3,ENST00000437503.1,ENST00000416836.1,ENST00000278655.4 |
| exon_skip_349097 | 20 | 9317772:9317853:9318654:9318714:9319540:9319559 | 9318654:9318714 | ENSG00000101333.12 | ENST00000407043.2,ENST00000441846.1,ENST00000334005.3,ENST00000378473.3,ENST00000437503.1,ENST00000278655.4,ENST00000414679.2,ENST00000378493.1,ENST00000492632.1,ENST00000378501.2 |
| exon_skip_349100 | 20 | 9318654:9318714:9319540:9319684:9343542:9343622 | 9319540:9319684 | ENSG00000101333.12 | ENST00000334005.3,ENST00000378473.3,ENST00000278655.4,ENST00000414679.2,ENST00000378493.1,ENST00000492632.1,ENST00000378501.2 |
| exon_skip_349103 | 20 | 9343542:9343622:9346107:9346161:9351860:9351942 | 9346107:9346161 | ENSG00000101333.12 | ENST00000334005.3,ENST00000378473.3,ENST00000278655.4,ENST00000414679.2,ENST00000378493.1,ENST00000492632.1,ENST00000378501.2 |
| exon_skip_349108 | 20 | 9351860:9351942:9352949:9353050:9360700:9360809 | 9352949:9353050 | ENSG00000101333.12 | ENST00000473151.1,ENST00000482123.1 |
| exon_skip_349109 | 20 | 9352949:9353050:9353693:9353751:9360700:9360809 | 9353693:9353751 | ENSG00000101333.12 | ENST00000334005.3,ENST00000378473.3,ENST00000278655.4,ENST00000414679.2,ENST00000378493.1,ENST00000492632.1,ENST00000378501.2,ENST00000464199.1 |
| exon_skip_349110 | 20 | 9371177:9371262:9374234:9374325:9376169:9376265 | 9374234:9374325 | ENSG00000101333.12 | ENST00000334005.3,ENST00000378473.3,ENST00000278655.4,ENST00000414679.2,ENST00000378493.1,ENST00000492632.1,ENST00000378501.2,ENST00000464199.1,ENST00000473151.1,ENST00000482123.1 |
| exon_skip_349115 | 20 | 9382136:9382237:9385959:9385995:9388563:9388705 | 9385959:9385995 | ENSG00000101333.12 | ENST00000378473.3,ENST00000414679.2,ENST00000482123.1 |
| exon_skip_349118 | 20 | 9400453:9400556:9401943:9402108:9404394:9404599 | 9401943:9402108 | ENSG00000101333.12 | ENST00000334005.3,ENST00000378473.3,ENST00000278655.4,ENST00000414679.2,ENST00000378493.1,ENST00000492632.1,ENST00000378501.2,ENST00000464199.1,ENST00000473151.1,ENST00000482123.1 |
| exon_skip_349119 | 20 | 9416206:9416295:9417648:9417799:9424627:9424677 | 9417648:9417799 | ENSG00000101333.12 | ENST00000334005.3,ENST00000378473.3,ENST00000278655.4,ENST00000414679.2,ENST00000378493.1,ENST00000492632.1,ENST00000378501.2,ENST00000464199.1,ENST00000473151.1,ENST00000482123.1 |
| exon_skip_349120 | 20 | 9433993:9434109:9438060:9438136:9440281:9440457 | 9438060:9438136 | ENSG00000101333.12 | ENST00000334005.3,ENST00000378473.3,ENST00000278655.4,ENST00000414679.2,ENST00000378493.1,ENST00000378501.2,ENST00000464199.1,ENST00000473151.1,ENST00000482123.1 |
| exon_skip_349121 | 20 | 9433993:9434109:9438060:9438136:9449217:9449319 | 9438060:9438136 | ENSG00000101333.12 | ENST00000492632.1 |
| exon_skip_349124 | 20 | 9438060:9438136:9440281:9440457:9449217:9449319 | 9440281:9440457 | ENSG00000101333.12 | ENST00000334005.3,ENST00000378473.3,ENST00000278655.4,ENST00000414679.2,ENST00000378493.1,ENST00000378501.2,ENST00000464199.1,ENST00000473151.1,ENST00000482123.1 |
| exon_skip_349125 | 20 | 9440281:9440457:9449217:9449319:9453436:9453494 | 9449217:9449319 | ENSG00000101333.12 | ENST00000334005.3,ENST00000378473.3,ENST00000278655.4,ENST00000414679.2,ENST00000378493.1,ENST00000378501.2,ENST00000464199.1,ENST00000473151.1,ENST00000482123.1 |
| exon_skip_349126 | 20 | 9453925:9454012:9457363:9457400:9459567:9460004 | 9457363:9457400 | ENSG00000101333.12 | ENST00000334005.3,ENST00000492632.1,ENST00000378501.2 |
| 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 PLCB4 |
| 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 |
| ENST00000278655 | 9288446 | 9288545 | 5CDS-5UTR |
| ENST00000278655 | 9353693 | 9353751 | Frame-shift |
| ENST00000378493 | 9353693 | 9353751 | Frame-shift |
| ENST00000278655 | 9374234 | 9374325 | Frame-shift |
| ENST00000378493 | 9374234 | 9374325 | Frame-shift |
| ENST00000278655 | 9417648 | 9417799 | Frame-shift |
| ENST00000378493 | 9417648 | 9417799 | Frame-shift |
| ENST00000278655 | 9438060 | 9438136 | Frame-shift |
| ENST00000378493 | 9438060 | 9438136 | Frame-shift |
| ENST00000278655 | 9440281 | 9440457 | Frame-shift |
| ENST00000378493 | 9440281 | 9440457 | Frame-shift |
| ENST00000278655 | 9318654 | 9318714 | In-frame |
| ENST00000378493 | 9318654 | 9318714 | In-frame |
| ENST00000278655 | 9319540 | 9319684 | In-frame |
| ENST00000378493 | 9319540 | 9319684 | In-frame |
| ENST00000278655 | 9346107 | 9346161 | In-frame |
| ENST00000378493 | 9346107 | 9346161 | In-frame |
| ENST00000278655 | 9401943 | 9402108 | In-frame |
| ENST00000378493 | 9401943 | 9402108 | In-frame |
| ENST00000278655 | 9449217 | 9449319 | In-frame |
| ENST00000378493 | 9449217 | 9449319 | 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 |
| ENST00000278655 | 9288446 | 9288545 | 5CDS-5UTR |
| ENST00000278655 | 9353693 | 9353751 | Frame-shift |
| ENST00000378493 | 9353693 | 9353751 | Frame-shift |
| ENST00000278655 | 9374234 | 9374325 | Frame-shift |
| ENST00000378493 | 9374234 | 9374325 | Frame-shift |
| ENST00000278655 | 9417648 | 9417799 | Frame-shift |
| ENST00000378493 | 9417648 | 9417799 | Frame-shift |
| ENST00000278655 | 9438060 | 9438136 | Frame-shift |
| ENST00000378493 | 9438060 | 9438136 | Frame-shift |
| ENST00000278655 | 9440281 | 9440457 | Frame-shift |
| ENST00000378493 | 9440281 | 9440457 | Frame-shift |
| ENST00000278655 | 9318654 | 9318714 | In-frame |
| ENST00000378493 | 9318654 | 9318714 | In-frame |
| ENST00000278655 | 9319540 | 9319684 | In-frame |
| ENST00000378493 | 9319540 | 9319684 | In-frame |
| ENST00000278655 | 9346107 | 9346161 | In-frame |
| ENST00000378493 | 9346107 | 9346161 | In-frame |
| ENST00000278655 | 9401943 | 9402108 | In-frame |
| ENST00000378493 | 9401943 | 9402108 | In-frame |
| ENST00000278655 | 9449217 | 9449319 | In-frame |
| ENST00000378493 | 9449217 | 9449319 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLCB4 |
| 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 |
| ENST00000278655 | 5447 | 1175 | 9318654 | 9318714 | 244 | 303 | 55 | 75 |
| ENST00000378493 | 5813 | 1175 | 9318654 | 9318714 | 181 | 240 | 55 | 75 |
| ENST00000278655 | 5447 | 1175 | 9319540 | 9319684 | 304 | 447 | 75 | 123 |
| ENST00000378493 | 5813 | 1175 | 9319540 | 9319684 | 241 | 384 | 75 | 123 |
| ENST00000278655 | 5447 | 1175 | 9346107 | 9346161 | 528 | 581 | 150 | 167 |
| ENST00000378493 | 5813 | 1175 | 9346107 | 9346161 | 465 | 518 | 150 | 167 |
| ENST00000278655 | 5447 | 1175 | 9401943 | 9402108 | 2197 | 2361 | 706 | 761 |
| ENST00000378493 | 5813 | 1175 | 9401943 | 9402108 | 2134 | 2298 | 706 | 761 |
| ENST00000278655 | 5447 | 1175 | 9449217 | 9449319 | 3291 | 3392 | 1071 | 1104 |
| ENST00000378493 | 5813 | 1175 | 9449217 | 9449319 | 3228 | 3329 | 1071 | 1104 |
| 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 |
| ENST00000278655 | 5447 | 1175 | 9318654 | 9318714 | 244 | 303 | 55 | 75 |
| ENST00000378493 | 5813 | 1175 | 9318654 | 9318714 | 181 | 240 | 55 | 75 |
| ENST00000278655 | 5447 | 1175 | 9319540 | 9319684 | 304 | 447 | 75 | 123 |
| ENST00000378493 | 5813 | 1175 | 9319540 | 9319684 | 241 | 384 | 75 | 123 |
| ENST00000278655 | 5447 | 1175 | 9346107 | 9346161 | 528 | 581 | 150 | 167 |
| ENST00000378493 | 5813 | 1175 | 9346107 | 9346161 | 465 | 518 | 150 | 167 |
| ENST00000278655 | 5447 | 1175 | 9401943 | 9402108 | 2197 | 2361 | 706 | 761 |
| ENST00000378493 | 5813 | 1175 | 9401943 | 9402108 | 2134 | 2298 | 706 | 761 |
| ENST00000278655 | 5447 | 1175 | 9449217 | 9449319 | 3291 | 3392 | 1071 | 1104 |
| ENST00000378493 | 5813 | 1175 | 9449217 | 9449319 | 3228 | 3329 | 1071 | 1104 |
| 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 |
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SNVs in the skipped exons for PLCB4 |
| - 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. |
PLCB4_SKCM_exon_skip_349118_psi_boxplot.png |
| - 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_349103 | 9346108 | 9346161 | 9346145 | 9346145 | Frame_Shift_Del | A | - | p.K163fs |
| STAD | TCGA-HU-A4H3-01 | exon_skip_349108 | 9352950 | 9353050 | 9352960 | 9352960 | Frame_Shift_Del | T | - | p.I199fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_349108 | 9352950 | 9353050 | 9352974 | 9352974 | Frame_Shift_Del | T | - | p.A203fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_349108 | 9352950 | 9353050 | 9352974 | 9352974 | Frame_Shift_Del | T | - | p.F204fs |
| ESCA | TCGA-XP-A8T7-01 | exon_skip_349108 | 9352950 | 9353050 | 9352984 | 9352984 | Frame_Shift_Del | A | - | p.K208fs |
| STAD | TCGA-CG-5728-01 | exon_skip_349108 | 9352950 | 9353050 | 9353043 | 9353043 | Frame_Shift_Del | A | - | p.F226fs |
| SKCM | TCGA-D3-A8GM-06 | exon_skip_349110 | 9374235 | 9374325 | 9374291 | 9374292 | Frame_Shift_Del | AA | - | p.IK460fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_349110 | 9374235 | 9374325 | 9374291 | 9374291 | Frame_Shift_Del | A | - | p.I460fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_349119 | 9417649 | 9417799 | 9417728 | 9417728 | Frame_Shift_Del | C | - | p.T886fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_349120 exon_skip_349121 | 9438061 | 9438136 | 9438083 | 9438083 | Frame_Shift_Del | A | - | p.K996fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_349120 exon_skip_349121 | 9438061 | 9438136 | 9438083 | 9438083 | Frame_Shift_Del | A | - | p.K996fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_349120 exon_skip_349121 | 9438061 | 9438136 | 9438083 | 9438083 | Frame_Shift_Del | A | - | p.K996fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_349120 exon_skip_349121 | 9438061 | 9438136 | 9438082 | 9438083 | Frame_Shift_Ins | - | A | p.IK994fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_349120 exon_skip_349121 | 9438061 | 9438136 | 9438082 | 9438083 | Frame_Shift_Ins | - | A | p.M1006fs |
| LUAD | TCGA-44-7667-01 | exon_skip_349093 | 9288447 | 9288545 | 9288539 | 9288539 | Nonsense_Mutation | C | G | p.Y26* |
| LUAD | TCGA-86-8673-01 | exon_skip_349103 | 9346108 | 9346161 | 9346111 | 9346111 | Nonsense_Mutation | G | A | p.W151* |
| SKCM | TCGA-W3-AA1V-06 | exon_skip_349103 | 9346108 | 9346161 | 9346111 | 9346111 | Nonsense_Mutation | G | A | p.W151* |
| LUSC | TCGA-46-3769-01 | exon_skip_349118 | 9401944 | 9402108 | 9401951 | 9401951 | Nonsense_Mutation | C | G | p.S709* |
| SKCM | TCGA-EB-A5UN-06 | exon_skip_349118 | 9401944 | 9402108 | 9401956 | 9401956 | Nonsense_Mutation | C | T | p.Q711* |
| LUAD | TCGA-44-7670-01 | exon_skip_349118 | 9401944 | 9402108 | 9402085 | 9402085 | Nonsense_Mutation | G | T | p.E754* |
| COAD | TCGA-CA-6718-01 | exon_skip_349120 exon_skip_349121 | 9438061 | 9438136 | 9438095 | 9438095 | Nonsense_Mutation | G | T | p.E999X |
| SKCM | TCGA-EE-A29D-06 | exon_skip_349120 exon_skip_349121 | 9438061 | 9438136 | 9438107 | 9438107 | Nonsense_Mutation | C | T | p.Q1003* |
| SKCM | TCGA-EE-A29D-06 | exon_skip_349120 exon_skip_349121 | 9438061 | 9438136 | 9438107 | 9438107 | Nonsense_Mutation | C | T | p.Q1003X |
| ESCA | TCGA-L5-A8NF-01 | exon_skip_349125 | 9449218 | 9449319 | 9449234 | 9449234 | Nonsense_Mutation | C | T | p.R1077* |
| ESCA | TCGA-L5-A8NF-01 | exon_skip_349125 | 9449218 | 9449319 | 9449234 | 9449234 | Nonsense_Mutation | C | T | p.R1089X |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_349125 | 9449218 | 9449319 | 9449234 | 9449234 | Nonsense_Mutation | C | T | p.R1077* |
| LIHC | TCGA-K7-A6G5-01 | exon_skip_349125 | 9449218 | 9449319 | 9449315 | 9449315 | Nonsense_Mutation | G | T | p.E1104* |
| LIHC | TCGA-K7-A6G5-01 | exon_skip_349125 | 9449218 | 9449319 | 9449315 | 9449315 | Nonsense_Mutation | G | T | p.E1116X |
| SKCM | TCGA-ER-A19E-06 | exon_skip_349100 | 9319541 | 9319684 | 9319685 | 9319685 | Splice_Site | G | A | . |
| COAD | TCGA-CK-5913-01 | exon_skip_349119 | 9417649 | 9417799 | 9417801 | 9417802 | Splice_Site | - | GA | . |
| LIHC | TCGA-ES-A2HT-01 | exon_skip_349120 exon_skip_349121 | 9438061 | 9438136 | 9438138 | 9438138 | Splice_Site | T | A | . |
| LUAD | TCGA-50-5051-01 | exon_skip_349125 | 9449218 | 9449319 | 9449216 | 9449221 | Splice_Site | AGGGAA | - | p.1071_splice |
| LUAD | TCGA-50-5051-01 | exon_skip_349125 | 9449218 | 9449319 | 9449216 | 9449221 | Splice_Site | AGGGAA | - | p.R1071_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EB-A5UN-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_349118 | |
| Skipped exon start: 9401944 | |
| Skipped exon end: 9402108 | |
| Mutation start: 9401956 | |
| Mutation end: 9401956 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q711* | |
exon_skip_349118_SKCM_TCGA-EB-A5UN-06.png | |
exon_skip_441422_SKCM_TCGA-EB-A5UN-06.png | |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9318655 | 9318714 | 9318697 | 9318697 | Frame_Shift_Del | T | - | p.S70fs |
| NCIH1048_LUNG | 9440282 | 9440457 | 9440396 | 9440396 | Frame_Shift_Del | A | - | p.K1052fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9318655 | 9318714 | 9318695 | 9318696 | Frame_Shift_Ins | - | CCAA | p.S70fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9318655 | 9318714 | 9318699 | 9318701 | In_Frame_Del | GGG | - | p.G71del |
| NCIH1155_LUNG | 9288447 | 9288545 | 9288495 | 9288495 | Missense_Mutation | G | A | p.E12K |
| HEC50B_ENDOMETRIUM | 9288447 | 9288545 | 9288528 | 9288528 | Missense_Mutation | T | G | p.F23V |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 9318655 | 9318714 | 9318694 | 9318694 | Missense_Mutation | C | T | p.R69W |
| KYSE180_OESOPHAGUS | 9318655 | 9318714 | 9318695 | 9318695 | Missense_Mutation | G | T | p.R69L |
| DOV13_OVARY | 9318655 | 9318714 | 9318710 | 9318710 | Missense_Mutation | C | G | p.P74R |
| HS939T_SKIN | 9319541 | 9319684 | 9319602 | 9319602 | Missense_Mutation | G | A | p.R96Q |
| HEC108_ENDOMETRIUM | 9346108 | 9346161 | 9346114 | 9346114 | Missense_Mutation | G | A | p.M152I |
| HCT15_LARGE_INTESTINE | 9346108 | 9346161 | 9346122 | 9346122 | Missense_Mutation | C | T | p.A155V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9346108 | 9346161 | 9346127 | 9346127 | Missense_Mutation | A | C | p.M157L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9346108 | 9346161 | 9346135 | 9346135 | Missense_Mutation | C | A | p.N159K |
| COLO741_SKIN | 9346108 | 9346161 | 9346151 | 9346151 | Missense_Mutation | C | T | p.P165S |
| HS944T_SKIN | 9352950 | 9353050 | 9352953 | 9352953 | Missense_Mutation | G | A | p.D197N |
| SNGM_ENDOMETRIUM | 9352950 | 9353050 | 9353020 | 9353020 | Missense_Mutation | G | A | p.R219Q |
| LS411N_LARGE_INTESTINE | 9353694 | 9353751 | 9353723 | 9353723 | Missense_Mutation | T | C | p.V239A |
| SNU81_LARGE_INTESTINE | 9374235 | 9374325 | 9374278 | 9374278 | Missense_Mutation | G | T | p.R456I |
| NCIH1339_LUNG | 9401944 | 9402108 | 9401989 | 9401989 | Missense_Mutation | G | T | p.V722L |
| PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9401944 | 9402108 | 9402003 | 9402003 | Missense_Mutation | G | A | p.M726I |
| MZ2MEL_SKIN | 9417649 | 9417799 | 9417698 | 9417698 | Missense_Mutation | G | A | p.G876E |
| CAL51_BREAST | 9417649 | 9417799 | 9417736 | 9417736 | Missense_Mutation | A | C | p.S889R |
| KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9417649 | 9417799 | 9417755 | 9417755 | Missense_Mutation | C | A | p.P895Q |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9438061 | 9438136 | 9438082 | 9438082 | Missense_Mutation | G | A | p.M994I |
| WM793_SKIN | 9438061 | 9438136 | 9438095 | 9438095 | Missense_Mutation | G | A | p.E999K |
| HARA_LUNG | 9438061 | 9438136 | 9438105 | 9438105 | Missense_Mutation | T | G | p.I1002S |
| MON_SOFT_TISSUE | 9440282 | 9440457 | 9440307 | 9440307 | Missense_Mutation | C | T | p.T1021I |
| JMSU1_URINARY_TRACT | 9440282 | 9440457 | 9440372 | 9440372 | Missense_Mutation | C | T | p.L1043F |
| RKO_LARGE_INTESTINE | 9440282 | 9440457 | 9440375 | 9440375 | Missense_Mutation | A | T | p.S1044C |
| SNU1076_UPPER_AERODIGESTIVE_TRACT | 9449218 | 9449319 | 9449240 | 9449240 | Missense_Mutation | C | T | p.H1079Y |
| HEC251_ENDOMETRIUM | 9449218 | 9449319 | 9449256 | 9449256 | Missense_Mutation | C | A | p.S1084Y |
| HARA_LUNG | 9319541 | 9319684 | 9319581 | 9319581 | Nonsense_Mutation | C | G | p.S89* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLCB4 |
| 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 PLCB4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLCB4 |
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RelatedDrugs for PLCB4 |
| 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 PLCB4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PLCB4 | C0025202 | melanoma | 1 | CTD_human |
| PLCB4 | C0220633 | Uveal melanoma | 1 | CTD_human |
| PLCB4 | C3553404 | AURICULOCONDYLAR SYNDROME 2 | 1 | UNIPROT |
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