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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 PIGB |
 Gene summary |
| Gene information | Gene symbol | PIGB | Gene ID | 9488 |
| Gene name | phosphatidylinositol glycan anchor biosynthesis class B | |
| Synonyms | GPI-MT-III|PIG-B | |
| Cytomap | 15q21.3 | |
| Type of gene | protein-coding | |
| Description | GPI mannosyltransferase 3GPI mannosyltransferase IIIdol-P-Man dependent GPI mannosyltransferasephosphatidylinositol glycan, class Bphosphatidylinositol-glycan biosynthesis class B protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q92521 | |
| Context | PubMed: PIGB [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 |
| PIGB | GO:0006506 | GPI anchor biosynthetic process | 8861954 |
| PIGB | GO:0097502 | mannosylation | 8861954 |
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Exon skipping events across known transcript of Ensembl for PIGB 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 PIGB |
| 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 PIGB |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_122223 | 15 | 55611470:55611611:55619728:55619833:55621921:55622052 | 55619728:55619833 | ENSG00000069943.5 | ENST00000570059.1 |
| exon_skip_122225 | 15 | 55611470:55611611:55621921:55622052:55626064:55626205 | 55621921:55622052 | ENSG00000069943.5 | ENST00000539642.1 |
| exon_skip_122231 | 15 | 55613497:55613588:55616977:55617032:55619728:55619833 | 55616977:55617032 | ENSG00000069943.5 | ENST00000566072.1 |
| exon_skip_122234 | 15 | 55613497:55613588:55619728:55619833:55621921:55622052 | 55619728:55619833 | ENSG00000069943.5 | ENST00000566999.1,ENST00000164305.5 |
| exon_skip_122237 | 15 | 55621921:55622052:55626064:55626205:55631464:55631487 | 55626064:55626205 | ENSG00000069943.5 | ENST00000565367.1,ENST00000539642.1,ENST00000570059.1,ENST00000164305.5 |
| exon_skip_122238 | 15 | 55626064:55626205:55631464:55631516:55632809:55633021 | 55631464:55631516 | ENSG00000069943.5 | ENST00000565367.1,ENST00000539642.1,ENST00000164305.5 |
| exon_skip_122249 | 15 | 55631464:55631516:55632809:55633021:55633935:55634000 | 55632809:55633021 | ENSG00000069943.5 | ENST00000565367.1,ENST00000539642.1,ENST00000164305.5 |
| exon_skip_122253 | 15 | 55633935:55634000:55642896:55643001:55646995:55647176 | 55642896:55643001 | ENSG00000069943.5 | ENST00000565502.1 |
| exon_skip_122254 | 15 | 55633935:55634000:55642896:55643110:55646995:55647176 | 55642896:55643110 | ENSG00000069943.5 | ENST00000565367.1,ENST00000539642.1,ENST00000164305.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PIGB |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_122223 | 15 | 55611470:55611611:55619728:55619833:55621921:55622052 | 55619728:55619833 | ENSG00000069943.5 | ENST00000570059.1 |
| exon_skip_122225 | 15 | 55611470:55611611:55621921:55622052:55626064:55626205 | 55621921:55622052 | ENSG00000069943.5 | ENST00000539642.1 |
| exon_skip_122231 | 15 | 55613497:55613588:55616977:55617032:55619728:55619833 | 55616977:55617032 | ENSG00000069943.5 | ENST00000566072.1 |
| exon_skip_122234 | 15 | 55613497:55613588:55619728:55619833:55621921:55622052 | 55619728:55619833 | ENSG00000069943.5 | ENST00000164305.5,ENST00000566999.1 |
| exon_skip_122237 | 15 | 55621921:55622052:55626064:55626205:55631464:55631487 | 55626064:55626205 | ENSG00000069943.5 | ENST00000565367.1,ENST00000164305.5,ENST00000539642.1,ENST00000570059.1 |
| exon_skip_122238 | 15 | 55626064:55626205:55631464:55631516:55632809:55633021 | 55631464:55631516 | ENSG00000069943.5 | ENST00000565367.1,ENST00000164305.5,ENST00000539642.1 |
| exon_skip_122249 | 15 | 55631464:55631516:55632809:55633021:55633935:55634000 | 55632809:55633021 | ENSG00000069943.5 | ENST00000565367.1,ENST00000164305.5,ENST00000539642.1 |
| exon_skip_122253 | 15 | 55633935:55634000:55642896:55643001:55646995:55647176 | 55642896:55643001 | ENSG00000069943.5 | ENST00000565502.1 |
| exon_skip_122254 | 15 | 55633935:55634000:55642896:55643110:55646995:55647176 | 55642896:55643110 | ENSG00000069943.5 | ENST00000565367.1,ENST00000164305.5,ENST00000539642.1 |
| 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 PIGB |
| 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 |
| ENST00000164305 | 55631464 | 55631516 | Frame-shift |
| ENST00000164305 | 55632809 | 55633021 | Frame-shift |
| ENST00000164305 | 55642896 | 55643110 | Frame-shift |
| ENST00000164305 | 55619728 | 55619833 | In-frame |
| ENST00000164305 | 55626064 | 55626205 | 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 |
| ENST00000164305 | 55631464 | 55631516 | Frame-shift |
| ENST00000164305 | 55632809 | 55633021 | Frame-shift |
| ENST00000164305 | 55642896 | 55643110 | Frame-shift |
| ENST00000164305 | 55619728 | 55619833 | In-frame |
| ENST00000164305 | 55626064 | 55626205 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PIGB |
| 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 |
| ENST00000164305 | 2189 | 554 | 55619728 | 55619833 | 709 | 813 | 139 | 174 |
| ENST00000164305 | 2189 | 554 | 55626064 | 55626205 | 945 | 1085 | 218 | 264 |
| 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 |
| ENST00000164305 | 2189 | 554 | 55619728 | 55619833 | 709 | 813 | 139 | 174 |
| ENST00000164305 | 2189 | 554 | 55626064 | 55626205 | 945 | 1085 | 218 | 264 |
| 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 |
| Q92521 | 139 | 174 | 1 | 554 | Chain | ID=PRO_0000246251;Note=GPI mannosyltransferase 3 |
| Q92521 | 139 | 174 | 162 | 162 | Natural variant | ID=VAR_027028;Note=M->T;Dbxref=dbSNP:rs2290344 |
| Q92521 | 139 | 174 | 136 | 156 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92521 | 218 | 264 | 1 | 554 | Chain | ID=PRO_0000246251;Note=GPI mannosyltransferase 3 |
| Q92521 | 218 | 264 | 224 | 244 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92521 | 218 | 264 | 255 | 275 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q92521 | 139 | 174 | 1 | 554 | Chain | ID=PRO_0000246251;Note=GPI mannosyltransferase 3 |
| Q92521 | 139 | 174 | 162 | 162 | Natural variant | ID=VAR_027028;Note=M->T;Dbxref=dbSNP:rs2290344 |
| Q92521 | 139 | 174 | 136 | 156 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92521 | 218 | 264 | 1 | 554 | Chain | ID=PRO_0000246251;Note=GPI mannosyltransferase 3 |
| Q92521 | 218 | 264 | 224 | 244 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92521 | 218 | 264 | 255 | 275 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PIGB |
| - 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 |
| UCEC | TCGA-AP-A0LD-01 | exon_skip_122225 | 55621922 | 55622052 | 55621922 | 55621922 | Frame_Shift_Del | T | - | p.F175_splice |
| BLCA | TCGA-4Z-AA81-01 | exon_skip_122238 | 55631465 | 55631516 | 55631503 | 55631503 | Frame_Shift_Del | T | - | p.I278fs |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_122238 | 55631465 | 55631516 | 55631503 | 55631503 | Frame_Shift_Del | T | - | p.I278fs |
| KIRP | TCGA-B1-A47N-01 | exon_skip_122238 | 55631465 | 55631516 | 55631503 | 55631503 | Frame_Shift_Del | T | - | p.I278fs |
| LIHC | TCGA-BD-A2L6-01 | exon_skip_122238 | 55631465 | 55631516 | 55631503 | 55631503 | Frame_Shift_Del | T | - | p.I278fs |
| LUAD | TCGA-17-Z044-01 | exon_skip_122238 | 55631465 | 55631516 | 55631503 | 55631504 | Frame_Shift_Del | TT | - | p.I278fs |
| PCPG | TCGA-W2-A7HH-01 | exon_skip_122238 | 55631465 | 55631516 | 55631503 | 55631503 | Frame_Shift_Del | T | - | p.I278fs |
| SARC | TCGA-VT-A80G-01 | exon_skip_122238 | 55631465 | 55631516 | 55631503 | 55631503 | Frame_Shift_Del | T | - | p.I278fs |
| SKCM | TCGA-D9-A6EG-06 | exon_skip_122238 | 55631465 | 55631516 | 55631503 | 55631503 | Frame_Shift_Del | T | - | p.I278fs |
| SKCM | TCGA-EE-A2GM-06 | exon_skip_122238 | 55631465 | 55631516 | 55631503 | 55631503 | Frame_Shift_Del | T | - | p.I278fs |
| SKCM | TCGA-GN-A26D-06 | exon_skip_122238 | 55631465 | 55631516 | 55631503 | 55631503 | Frame_Shift_Del | T | - | p.I278fs |
| THCA | TCGA-DJ-A3UU-01 | exon_skip_122238 | 55631465 | 55631516 | 55631503 | 55631503 | Frame_Shift_Del | T | - | p.I278fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_122253 | 55642897 | 55643001 | 55642958 | 55642958 | Frame_Shift_Del | A | - | p.S395fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_122254 | 55642897 | 55643110 | 55642958 | 55642958 | Frame_Shift_Del | A | - | p.S395fs |
| LUAD | TCGA-50-5068-01 | exon_skip_122238 | 55631465 | 55631516 | 55631502 | 55631503 | Frame_Shift_Ins | - | T | p.F278fs |
| LUAD | TCGA-50-5068-01 | exon_skip_122238 | 55631465 | 55631516 | 55631502 | 55631503 | Frame_Shift_Ins | - | T | p.I278fs |
| LUAD | TCGA-55-6987-01 | exon_skip_122238 | 55631465 | 55631516 | 55631502 | 55631503 | Frame_Shift_Ins | - | T | p.F278fs |
| COAD | TCGA-AD-6889-01 | exon_skip_122225 | 55621922 | 55622052 | 55621921 | 55621922 | Splice_Site | - | T | . |
| COAD | TCGA-D5-6930-01 | exon_skip_122225 | 55621922 | 55622052 | 55621921 | 55621922 | Splice_Site | - | T | . |
| PRAD | TCGA-J9-A52C-01 | exon_skip_122225 | 55621922 | 55622052 | 55621921 | 55621922 | Splice_Site | - | T | . |
| STAD | TCGA-BR-4370-01 | exon_skip_122225 | 55621922 | 55622052 | 55621921 | 55621922 | Splice_Site | - | T | . |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_122225 | 55621922 | 55622052 | 55621921 | 55621922 | Splice_Site | - | T | . |
| - 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 |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55626065 | 55626205 | 55626191 | 55626191 | Frame_Shift_Del | T | - | p.H260fs |
| SNU1_STOMACH | 55626065 | 55626205 | 55626191 | 55626191 | Frame_Shift_Del | T | - | p.H260fs |
| SNU1040_LARGE_INTESTINE | 55626065 | 55626205 | 55626191 | 55626191 | Frame_Shift_Del | T | - | p.H260fs |
| OVK18_OVARY | 55631465 | 55631516 | 55631502 | 55631503 | Frame_Shift_Ins | - | T | p.I278fs |
| SKUT1_SOFT_TISSUE | 55631465 | 55631516 | 55631502 | 55631503 | Frame_Shift_Ins | - | T | p.I278fs |
| ISTMES1_PLEURA | 55642897 | 55643110 | 55643041 | 55643043 | In_Frame_Del | ACA | - | p.N425del |
| SNU466_CENTRAL_NERVOUS_SYSTEM | 55619729 | 55619833 | 55619800 | 55619800 | Missense_Mutation | G | C | p.K163N |
| PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55621922 | 55622052 | 55621950 | 55621950 | Missense_Mutation | C | T | p.T184I |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55621922 | 55622052 | 55622047 | 55622047 | Missense_Mutation | G | A | p.M216I |
| LS123_LARGE_INTESTINE | 55626065 | 55626205 | 55626121 | 55626121 | Missense_Mutation | T | C | p.I237T |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55626065 | 55626205 | 55626130 | 55626130 | Missense_Mutation | C | T | p.T240I |
| FADU_UPPER_AERODIGESTIVE_TRACT | 55626065 | 55626205 | 55626174 | 55626174 | Missense_Mutation | G | C | p.D255H |
| SW480_LARGE_INTESTINE | 55631465 | 55631516 | 55631497 | 55631497 | Missense_Mutation | A | T | p.D276V |
| CCFSTTG1_CENTRAL_NERVOUS_SYSTEM | 55631465 | 55631516 | 55631499 | 55631499 | Missense_Mutation | C | T | p.R277C |
| LOVO_LARGE_INTESTINE | 55632810 | 55633021 | 55632979 | 55632979 | Missense_Mutation | G | A | p.R339Q |
| HCC2279_LUNG | 55642897 | 55643001 | 55642914 | 55642914 | Missense_Mutation | C | G | p.L381V |
| HCC2279_LUNG | 55642897 | 55643110 | 55642914 | 55642914 | Missense_Mutation | C | G | p.L381V |
| BT549_BREAST | 55642897 | 55643001 | 55643004 | 55643004 | Missense_Mutation | A | C | p.T411P |
| BT549_BREAST | 55642897 | 55643110 | 55643004 | 55643004 | Missense_Mutation | A | C | p.T411P |
| KYSE50_OESOPHAGUS | 55642897 | 55643110 | 55643018 | 55643018 | Missense_Mutation | G | T | p.M415I |
| KON_UPPER_AERODIGESTIVE_TRACT | 55642897 | 55643110 | 55643095 | 55643095 | Missense_Mutation | C | G | p.S441C |
| SNU175_LARGE_INTESTINE | 55621922 | 55622052 | 55621944 | 55621944 | Nonsense_Mutation | G | A | p.W182* |
| LOVO_LARGE_INTESTINE | 55621922 | 55622052 | 55621922 | 55621922 | Splice_Site | T | - | p.F176fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIGB |
| 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 PIGB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIGB |
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RelatedDrugs for PIGB |
| 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 PIGB |
| 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)
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