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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 COL4A3BP |
 Gene summary |
| Gene information | Gene symbol | COL4A3BP | Gene ID | 10087 |
| Gene name | collagen type IV alpha 3 binding protein | |
| Synonyms | CERT|CERTL|GPBP|MRD34|STARD11 | |
| Cytomap | 5q13.3 | |
| Type of gene | protein-coding | |
| Description | collagen type IV alpha-3-binding proteinStAR-related lipid transfer (START) domain containing 11ceramide transfer proteinceramide transportercollagen, type IV, alpha 3 (Goodpasture antigen) binding proteinhCERTlipid-transfer protein CERTL | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y5P4 | |
| Context | PubMed: COL4A3BP [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 |
| COL4A3BP | GO:0120012 | intermembrane sphingolipid transfer | 18184806 |
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Exon skipping events across known transcript of Ensembl for COL4A3BP 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 COL4A3BP |
| 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 COL4A3BP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_442694 | 5 | 74664310:74664483:74675161:74675298:74676896:74677026 | 74675161:74675298 | ENSG00000113163.11 | ENST00000357457.4 |
| exon_skip_442695 | 5 | 74669982:74670016:74675161:74675298:74676896:74677026 | 74675161:74675298 | ENSG00000113163.11 | ENST00000405807.4,ENST00000261415.7,ENST00000380494.5 |
| exon_skip_442697 | 5 | 74675161:74675298:74676896:74677026:74677773:74677894 | 74676896:74677026 | ENSG00000113163.11 | ENST00000508809.1,ENST00000357457.4,ENST00000405807.4,ENST00000261415.7,ENST00000380494.5 |
| exon_skip_442698 | 5 | 74676969:74677026:74677773:74677902:74680466:74680537 | 74677773:74677902 | ENSG00000113163.11 | ENST00000357457.4,ENST00000405807.4,ENST00000508692.1,ENST00000261415.7,ENST00000380494.5 |
| exon_skip_442699 | 5 | 74677773:74677902:74680466:74680537:74681726:74681748 | 74680466:74680537 | ENSG00000113163.11 | ENST00000357457.4,ENST00000405807.4,ENST00000508692.1,ENST00000261415.7,ENST00000380494.5 |
| exon_skip_442701 | 5 | 74681726:74681859:74685416:74685512:74696029:74696046 | 74685416:74685512 | ENSG00000113163.11 | ENST00000261415.7 |
| exon_skip_442702 | 5 | 74685416:74685512:74695134:74695212:74696029:74696046 | 74695134:74695212 | ENSG00000113163.11 | ENST00000405807.4,ENST00000380494.5 |
| exon_skip_442704 | 5 | 74685416:74685512:74696029:74696122:74698796:74698883 | 74696029:74696122 | ENSG00000113163.11 | ENST00000261415.7 |
| exon_skip_442707 | 5 | 74696029:74696122:74698796:74698883:74706835:74706928 | 74698796:74698883 | ENSG00000113163.11 | ENST00000405807.4,ENST00000261415.7,ENST00000380494.5 |
| exon_skip_442708 | 5 | 74698796:74698883:74706835:74706928:74712700:74712858 | 74706835:74706928 | ENSG00000113163.11 | ENST00000405807.4,ENST00000261415.7,ENST00000380494.5 |
| exon_skip_442709 | 5 | 74706835:74706928:74712700:74712858:74715165:74715249 | 74712700:74712858 | ENSG00000113163.11 | ENST00000405807.4,ENST00000261415.7,ENST00000380494.5 |
| exon_skip_442710 | 5 | 74722195:74722303:74754889:74755006:74801806:74801941 | 74754889:74755006 | ENSG00000113163.11 | ENST00000405807.4,ENST00000261415.7,ENST00000380494.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for COL4A3BP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_442694 | 5 | 74664310:74664483:74675161:74675298:74676896:74677026 | 74675161:74675298 | ENSG00000113163.11 | ENST00000357457.4 |
| exon_skip_442695 | 5 | 74669982:74670016:74675161:74675298:74676896:74677026 | 74675161:74675298 | ENSG00000113163.11 | ENST00000380494.5,ENST00000405807.4,ENST00000261415.7 |
| exon_skip_442697 | 5 | 74675161:74675298:74676896:74677026:74677773:74677894 | 74676896:74677026 | ENSG00000113163.11 | ENST00000357457.4,ENST00000380494.5,ENST00000405807.4,ENST00000261415.7,ENST00000508809.1 |
| exon_skip_442698 | 5 | 74676969:74677026:74677773:74677902:74680466:74680537 | 74677773:74677902 | ENSG00000113163.11 | ENST00000357457.4,ENST00000380494.5,ENST00000405807.4,ENST00000508692.1,ENST00000261415.7 |
| exon_skip_442699 | 5 | 74677773:74677902:74680466:74680537:74681726:74681748 | 74680466:74680537 | ENSG00000113163.11 | ENST00000357457.4,ENST00000380494.5,ENST00000405807.4,ENST00000508692.1,ENST00000261415.7 |
| exon_skip_442701 | 5 | 74681726:74681859:74685416:74685512:74696029:74696046 | 74685416:74685512 | ENSG00000113163.11 | ENST00000261415.7 |
| exon_skip_442702 | 5 | 74685416:74685512:74695134:74695212:74696029:74696046 | 74695134:74695212 | ENSG00000113163.11 | ENST00000380494.5,ENST00000405807.4 |
| exon_skip_442704 | 5 | 74685416:74685512:74696029:74696122:74698796:74698883 | 74696029:74696122 | ENSG00000113163.11 | ENST00000261415.7 |
| exon_skip_442707 | 5 | 74696029:74696122:74698796:74698883:74706835:74706928 | 74698796:74698883 | ENSG00000113163.11 | ENST00000380494.5,ENST00000405807.4,ENST00000261415.7 |
| exon_skip_442708 | 5 | 74698796:74698883:74706835:74706928:74712700:74712858 | 74706835:74706928 | ENSG00000113163.11 | ENST00000380494.5,ENST00000405807.4,ENST00000261415.7 |
| exon_skip_442709 | 5 | 74706835:74706928:74712700:74712858:74715165:74715249 | 74712700:74712858 | ENSG00000113163.11 | ENST00000380494.5,ENST00000405807.4,ENST00000261415.7 |
| exon_skip_442710 | 5 | 74722195:74722303:74754889:74755006:74801806:74801941 | 74754889:74755006 | ENSG00000113163.11 | ENST00000380494.5,ENST00000405807.4,ENST00000261415.7 |
| 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 COL4A3BP |
| 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 |
| ENST00000261415 | 74675161 | 74675298 | 5CDS-5UTR |
| ENST00000405807 | 74675161 | 74675298 | 5CDS-5UTR |
| ENST00000261415 | 74676896 | 74677026 | Frame-shift |
| ENST00000405807 | 74676896 | 74677026 | Frame-shift |
| ENST00000261415 | 74680466 | 74680537 | Frame-shift |
| ENST00000405807 | 74680466 | 74680537 | Frame-shift |
| ENST00000261415 | 74712700 | 74712858 | Frame-shift |
| ENST00000405807 | 74712700 | 74712858 | Frame-shift |
| ENST00000261415 | 74677773 | 74677902 | In-frame |
| ENST00000405807 | 74677773 | 74677902 | In-frame |
| ENST00000261415 | 74685416 | 74685512 | In-frame |
| ENST00000405807 | 74695134 | 74695212 | In-frame |
| ENST00000261415 | 74696029 | 74696122 | In-frame |
| ENST00000261415 | 74698796 | 74698883 | In-frame |
| ENST00000405807 | 74698796 | 74698883 | In-frame |
| ENST00000261415 | 74706835 | 74706928 | In-frame |
| ENST00000405807 | 74706835 | 74706928 | In-frame |
| ENST00000261415 | 74754889 | 74755006 | In-frame |
| ENST00000405807 | 74754889 | 74755006 | 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 |
| ENST00000261415 | 74675161 | 74675298 | 5CDS-5UTR |
| ENST00000405807 | 74675161 | 74675298 | 5CDS-5UTR |
| ENST00000261415 | 74676896 | 74677026 | Frame-shift |
| ENST00000405807 | 74676896 | 74677026 | Frame-shift |
| ENST00000261415 | 74680466 | 74680537 | Frame-shift |
| ENST00000405807 | 74680466 | 74680537 | Frame-shift |
| ENST00000261415 | 74712700 | 74712858 | Frame-shift |
| ENST00000405807 | 74712700 | 74712858 | Frame-shift |
| ENST00000261415 | 74677773 | 74677902 | In-frame |
| ENST00000405807 | 74677773 | 74677902 | In-frame |
| ENST00000261415 | 74685416 | 74685512 | In-frame |
| ENST00000405807 | 74695134 | 74695212 | In-frame |
| ENST00000261415 | 74696029 | 74696122 | In-frame |
| ENST00000261415 | 74698796 | 74698883 | In-frame |
| ENST00000405807 | 74698796 | 74698883 | In-frame |
| ENST00000261415 | 74706835 | 74706928 | In-frame |
| ENST00000405807 | 74706835 | 74706928 | In-frame |
| ENST00000261415 | 74754889 | 74755006 | In-frame |
| ENST00000405807 | 74754889 | 74755006 | In-frame |
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Infer the effects of exon skipping event on protein functional features for COL4A3BP |
| 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 |
| ENST00000261415 | 2279 | 624 | 74754889 | 74755006 | 654 | 770 | 77 | 116 |
| ENST00000405807 | 2860 | 624 | 74754889 | 74755006 | 654 | 770 | 77 | 116 |
| ENST00000261415 | 2279 | 624 | 74706835 | 74706928 | 1260 | 1352 | 279 | 310 |
| ENST00000405807 | 2860 | 624 | 74706835 | 74706928 | 1260 | 1352 | 279 | 310 |
| ENST00000261415 | 2279 | 624 | 74698796 | 74698883 | 1353 | 1439 | 310 | 339 |
| ENST00000405807 | 2860 | 624 | 74698796 | 74698883 | 1353 | 1439 | 310 | 339 |
| ENST00000261415 | 2279 | 624 | 74696029 | 74696122 | 1440 | 1532 | 339 | 370 |
| ENST00000261415 | 2279 | 624 | 74685416 | 74685512 | 1533 | 1628 | 370 | 402 |
| ENST00000405807 | 2860 | 624 | 74695134 | 74695212 | 1533 | 1610 | 370 | 396 |
| ENST00000261415 | 2279 | 624 | 74677773 | 74677902 | 1833 | 1961 | 470 | 513 |
| ENST00000405807 | 2860 | 624 | 74677773 | 74677902 | 1911 | 2039 | 496 | 539 |
| 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 |
| ENST00000261415 | 2279 | 624 | 74754889 | 74755006 | 654 | 770 | 77 | 116 |
| ENST00000405807 | 2860 | 624 | 74754889 | 74755006 | 654 | 770 | 77 | 116 |
| ENST00000261415 | 2279 | 624 | 74706835 | 74706928 | 1260 | 1352 | 279 | 310 |
| ENST00000405807 | 2860 | 624 | 74706835 | 74706928 | 1260 | 1352 | 279 | 310 |
| ENST00000261415 | 2279 | 624 | 74698796 | 74698883 | 1353 | 1439 | 310 | 339 |
| ENST00000405807 | 2860 | 624 | 74698796 | 74698883 | 1353 | 1439 | 310 | 339 |
| ENST00000261415 | 2279 | 624 | 74696029 | 74696122 | 1440 | 1532 | 339 | 370 |
| ENST00000261415 | 2279 | 624 | 74685416 | 74685512 | 1533 | 1628 | 370 | 402 |
| ENST00000405807 | 2860 | 624 | 74695134 | 74695212 | 1533 | 1610 | 370 | 396 |
| ENST00000261415 | 2279 | 624 | 74677773 | 74677902 | 1833 | 1961 | 470 | 513 |
| ENST00000405807 | 2860 | 624 | 74677773 | 74677902 | 1911 | 2039 | 496 | 539 |
| 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 COL4A3BP |
| - 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-G3-A3CJ-01 | exon_skip_442694 exon_skip_442695 | 74675162 | 74675298 | 74675197 | 74675197 | Frame_Shift_Del | T | - | p.T745fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_442694 exon_skip_442695 | 74675162 | 74675298 | 74675273 | 74675273 | Frame_Shift_Del | G | - | p.A719fs |
| KIRP | TCGA-UZ-A9PO-01 | exon_skip_442697 | 74676897 | 74677026 | 74676981 | 74676981 | Frame_Shift_Del | A | - | p.C683fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_442698 | 74677774 | 74677902 | 74677797 | 74677797 | Frame_Shift_Del | A | - | p.S660fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_442698 | 74677774 | 74677902 | 74677802 | 74677802 | Frame_Shift_Del | T | - | p.N658fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_442701 | 74685417 | 74685512 | 74685422 | 74685422 | Frame_Shift_Del | T | - | p.M555fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_442707 | 74698797 | 74698883 | 74698808 | 74698808 | Frame_Shift_Del | T | - | p.I464fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_442708 | 74706836 | 74706928 | 74706888 | 74706888 | Frame_Shift_Del | T | - | p.N421fs |
| CESC | TCGA-C5-A1BF-01 | exon_skip_442698 | 74677774 | 74677902 | 74677813 | 74677813 | Nonsense_Mutation | C | T | p.W654* |
| SARC | TCGA-X6-A8C3-01 | exon_skip_442704 | 74696030 | 74696122 | 74696029 | 74696029 | Splice_Site | C | A | e11+1 |
| - 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 |
| MEWO_SKIN | 74685417 | 74685512 | 74685425 | 74685425 | Frame_Shift_Del | C | - | p.E426fs |
| EGI1_BILIARY_TRACT | 74706836 | 74706928 | 74706907 | 74706909 | In_Frame_Del | TTC | - | p.R286del |
| CP66MEL_SKIN | 74676897 | 74677026 | 74676953 | 74676953 | Missense_Mutation | C | T | p.G564E |
| SNUC4_LARGE_INTESTINE | 74676897 | 74677026 | 74676987 | 74676987 | Missense_Mutation | T | C | p.M553V |
| SNGM_ENDOMETRIUM | 74677774 | 74677902 | 74677778 | 74677778 | Missense_Mutation | G | A | p.A538V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 74680467 | 74680537 | 74680484 | 74680484 | Missense_Mutation | T | C | p.I491V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74680467 | 74680537 | 74680484 | 74680484 | Missense_Mutation | T | C | p.I491V |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74695135 | 74695212 | 74695205 | 74695205 | Missense_Mutation | C | T | p.S373N |
| SCLC22H_LUNG | 74706836 | 74706928 | 74706888 | 74706888 | Missense_Mutation | T | G | p.N293T |
| SCLC21H_LUNG | 74706836 | 74706928 | 74706888 | 74706888 | Missense_Mutation | T | G | p.N293T |
| CW2_LARGE_INTESTINE | 74712701 | 74712858 | 74712751 | 74712751 | Missense_Mutation | T | C | p.I263V |
| NCIH748_LUNG | 74754890 | 74755006 | 74754920 | 74754920 | Missense_Mutation | C | A | p.Q106H |
| HEC1_ENDOMETRIUM | 74754890 | 74755006 | 74754946 | 74754946 | Missense_Mutation | G | A | p.R98C |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74754890 | 74755006 | 74754970 | 74754970 | Missense_Mutation | C | A | p.V90L |
| MRKNU1_BREAST | 74754890 | 74755006 | 74754981 | 74754981 | Missense_Mutation | A | T | p.F86Y |
| SNU175_LARGE_INTESTINE | 74754890 | 74755006 | 74755000 | 74755000 | Missense_Mutation | C | T | p.D80N |
| MCC13_SKIN | 74676897 | 74677026 | 74677017 | 74677018 | Nonsense_Mutation | GG | AA | p.R543* |
| MCC13_SKIN | 74676897 | 74677026 | 74677017 | 74677017 | Nonsense_Mutation | G | A | p.R543* |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74712701 | 74712858 | 74712835 | 74712835 | Nonsense_Mutation | C | A | p.G235* |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74680467 | 74680537 | 74680536 | 74680536 | Splice_Site | T | A | p.T473T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COL4A3BP |
| 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 COL4A3BP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COL4A3BP |
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RelatedDrugs for COL4A3BP |
| 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 COL4A3BP |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| COL4A3BP | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| COL4A3BP | C4225156 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 | 1 | UNIPROT |
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