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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 CLPB |
 Gene summary |
| Gene information | Gene symbol | CLPB | Gene ID | 81570 |
| Gene name | ClpB homolog, mitochondrial AAA ATPase chaperonin | |
| Synonyms | ANKCLB|HSP78|MEGCANN|MGCA7|SKD3 | |
| Cytomap | 11q13.4 | |
| Type of gene | protein-coding | |
| Description | caseinolytic peptidase B protein homologClpB caseinolytic peptidase B homologankyrin-repeat containing bacterial clp fusionsuppressor of potassium transport defect 3testicular secretory protein Li 11 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H078 | |
| Context | PubMed: CLPB [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 |
| CLPB | GO:0034605 | cellular response to heat | 2745427 |
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Exon skipping events across known transcript of Ensembl for CLPB 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 CLPB |
| 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 CLPB |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_75347 | 11 | 72005065:72005170:72005368:72005488:72005663:72005737 | 72005368:72005488 | ENSG00000162129.8 | ENST00000437826.2,ENST00000535990.1,ENST00000538021.1,ENST00000538039.1,ENST00000340729.5,ENST00000543042.1,ENST00000294053.3 |
| exon_skip_75348 | 11 | 72005368:72005488:72005663:72005737:72006535:72006692 | 72005663:72005737 | ENSG00000162129.8 | ENST00000437826.2,ENST00000535990.1,ENST00000538021.1,ENST00000538039.1,ENST00000340729.5,ENST00000543042.1,ENST00000294053.3 |
| exon_skip_75349 | 11 | 72012846:72013008:72013347:72013392:72018242:72018298 | 72013347:72013392 | ENSG00000162129.8 | ENST00000544382.1,ENST00000437826.2,ENST00000535990.1,ENST00000535477.1,ENST00000538039.1,ENST00000340729.5,ENST00000543042.1,ENST00000294053.3 |
| exon_skip_75351 | 11 | 72018242:72018298:72019570:72019648:72028149:72028264 | 72019570:72019648 | ENSG00000162129.8 | ENST00000544382.1,ENST00000437826.2,ENST00000535990.1,ENST00000535477.1,ENST00000538039.1,ENST00000340729.5,ENST00000543042.1,ENST00000294053.3 |
| exon_skip_75354 | 11 | 72040828:72040848:72069923:72070052:72091324:72091346 | 72069923:72070052 | ENSG00000162129.8 | ENST00000544683.1,ENST00000535477.1,ENST00000538039.1,ENST00000340729.5,ENST00000543042.1 |
| exon_skip_75355 | 11 | 72069923:72070052:72083968:72084058:72091324:72091346 | 72083968:72084058 | ENSG00000162129.8 | ENST00000437826.2,ENST00000535990.1,ENST00000445069.2,ENST00000536297.1,ENST00000539148.1,ENST00000294053.3 |
| exon_skip_75356 | 11 | 72069923:72070052:72091324:72091428:72114009:72114082 | 72091324:72091428 | ENSG00000162129.8 | ENST00000544683.1,ENST00000535477.1,ENST00000538039.1,ENST00000543042.1 |
| exon_skip_75357 | 11 | 72091324:72091428:72114009:72114096:72141355:72141407 | 72114009:72114096 | ENSG00000162129.8 | ENST00000544683.1,ENST00000445069.2,ENST00000535477.1,ENST00000538039.1,ENST00000539148.1,ENST00000294053.3 |
| exon_skip_75359 | 11 | 72114009:72114096:72119141:72119248:72141355:72141407 | 72119141:72119248 | ENSG00000162129.8 | ENST00000437826.2,ENST00000535990.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CLPB |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_75347 | 11 | 72005065:72005170:72005368:72005488:72005663:72005737 | 72005368:72005488 | ENSG00000162129.8 | ENST00000294053.3,ENST00000538039.1,ENST00000535990.1,ENST00000340729.5,ENST00000437826.2,ENST00000543042.1,ENST00000538021.1 |
| exon_skip_75348 | 11 | 72005368:72005488:72005663:72005737:72006535:72006692 | 72005663:72005737 | ENSG00000162129.8 | ENST00000294053.3,ENST00000538039.1,ENST00000535990.1,ENST00000340729.5,ENST00000437826.2,ENST00000543042.1,ENST00000538021.1 |
| exon_skip_75349 | 11 | 72012846:72013008:72013347:72013392:72018242:72018298 | 72013347:72013392 | ENSG00000162129.8 | ENST00000294053.3,ENST00000538039.1,ENST00000535990.1,ENST00000340729.5,ENST00000437826.2,ENST00000543042.1,ENST00000535477.1,ENST00000544382.1 |
| exon_skip_75350 | 11 | 72012846:72013008:72013347:72013417:72018242:72018298 | 72013347:72013417 | ENSG00000162129.8 | ENST00000538021.1 |
| exon_skip_75351 | 11 | 72018242:72018298:72019570:72019648:72028149:72028264 | 72019570:72019648 | ENSG00000162129.8 | ENST00000294053.3,ENST00000538039.1,ENST00000535990.1,ENST00000340729.5,ENST00000437826.2,ENST00000543042.1,ENST00000535477.1,ENST00000544382.1 |
| exon_skip_75354 | 11 | 72040828:72040848:72069923:72070052:72091324:72091346 | 72069923:72070052 | ENSG00000162129.8 | ENST00000538039.1,ENST00000340729.5,ENST00000543042.1,ENST00000535477.1,ENST00000544683.1 |
| exon_skip_75355 | 11 | 72069923:72070052:72083968:72084058:72091324:72091346 | 72083968:72084058 | ENSG00000162129.8 | ENST00000294053.3,ENST00000535990.1,ENST00000437826.2,ENST00000539148.1,ENST00000445069.2,ENST00000536297.1 |
| exon_skip_75356 | 11 | 72069923:72070052:72091324:72091428:72114009:72114082 | 72091324:72091428 | ENSG00000162129.8 | ENST00000538039.1,ENST00000543042.1,ENST00000535477.1,ENST00000544683.1 |
| exon_skip_75357 | 11 | 72091324:72091428:72114009:72114096:72141355:72141407 | 72114009:72114096 | ENSG00000162129.8 | ENST00000294053.3,ENST00000538039.1,ENST00000535477.1,ENST00000544683.1,ENST00000539148.1,ENST00000445069.2 |
| exon_skip_75359 | 11 | 72114009:72114096:72119141:72119248:72141355:72141407 | 72119141:72119248 | ENSG00000162129.8 | ENST00000535990.1,ENST00000437826.2 |
| 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 CLPB |
| 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 |
| ENST00000294053 | 72005663 | 72005737 | Frame-shift |
| ENST00000294053 | 72005368 | 72005488 | In-frame |
| ENST00000294053 | 72013347 | 72013392 | In-frame |
| ENST00000294053 | 72019570 | 72019648 | In-frame |
| ENST00000294053 | 72083968 | 72084058 | In-frame |
| ENST00000294053 | 72114009 | 72114096 | 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 |
| ENST00000294053 | 72005663 | 72005737 | Frame-shift |
| ENST00000294053 | 72005368 | 72005488 | In-frame |
| ENST00000294053 | 72013347 | 72013392 | In-frame |
| ENST00000294053 | 72019570 | 72019648 | In-frame |
| ENST00000294053 | 72083968 | 72084058 | In-frame |
| ENST00000294053 | 72114009 | 72114096 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CLPB |
| 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 |
| ENST00000294053 | 3257 | 707 | 72114009 | 72114096 | 630 | 716 | 152 | 180 |
| ENST00000294053 | 3257 | 707 | 72083968 | 72084058 | 821 | 910 | 215 | 245 |
| ENST00000294053 | 3257 | 707 | 72019570 | 72019648 | 1253 | 1330 | 359 | 385 |
| ENST00000294053 | 3257 | 707 | 72013347 | 72013392 | 1387 | 1431 | 404 | 419 |
| ENST00000294053 | 3257 | 707 | 72005368 | 72005488 | 1825 | 1944 | 550 | 590 |
| 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 |
| ENST00000294053 | 3257 | 707 | 72114009 | 72114096 | 630 | 716 | 152 | 180 |
| ENST00000294053 | 3257 | 707 | 72083968 | 72084058 | 821 | 910 | 215 | 245 |
| ENST00000294053 | 3257 | 707 | 72019570 | 72019648 | 1253 | 1330 | 359 | 385 |
| ENST00000294053 | 3257 | 707 | 72013347 | 72013392 | 1387 | 1431 | 404 | 419 |
| ENST00000294053 | 3257 | 707 | 72005368 | 72005488 | 1825 | 1944 | 550 | 590 |
| 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 |
| Q9H078 | 152 | 180 | 1 | 171 | Alternative sequence | ID=VSP_057397;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H078 | 152 | 180 | 152 | 180 | Alternative sequence | ID=VSP_044726;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H078 | 152 | 180 | 37 | 707 | Chain | ID=PRO_0000191239;Note=Caseinolytic peptidase B protein homolog |
| Q9H078 | 152 | 180 | 133 | 162 | Repeat | Note=ANK 1 |
| Q9H078 | 152 | 180 | 166 | 195 | Repeat | Note=ANK 2 |
| Q9H078 | 215 | 245 | 216 | 245 | Alternative sequence | ID=VSP_001106;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H078 | 215 | 245 | 37 | 707 | Chain | ID=PRO_0000191239;Note=Caseinolytic peptidase B protein homolog |
| Q9H078 | 359 | 385 | 37 | 707 | Chain | ID=PRO_0000191239;Note=Caseinolytic peptidase B protein homolog |
| Q9H078 | 359 | 385 | 381 | 388 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H078 | 404 | 419 | 37 | 707 | Chain | ID=PRO_0000191239;Note=Caseinolytic peptidase B protein homolog |
| Q9H078 | 404 | 419 | 408 | 408 | Natural variant | ID=VAR_073399;Note=In MEGCANN%3B reduced ATPase activity in vitro. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25597510;Dbxref=dbSNP:rs144078282,PMID:25597510 |
| Q9H078 | 404 | 419 | 411 | 411 | Natural variant | ID=VAR_073400;Note=In MEGCANN. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25597510;Dbxref=dbSNP:rs786205137,PMID:25597510 |
| Q9H078 | 404 | 419 | 413 | 413 | Sequence conflict | Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9H078 | 550 | 590 | 37 | 707 | Chain | ID=PRO_0000191239;Note=Caseinolytic peptidase B protein homolog |
| Q9H078 | 550 | 590 | 589 | 589 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q9H078 | 550 | 590 | 567 | 567 | Natural variant | ID=VAR_073404;Note=In MEGCANN. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25597510;Dbxref=dbSNP:rs150857620,PMID:25597510 |
| Q9H078 | 550 | 590 | 563 | 563 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9H078 | 152 | 180 | 1 | 171 | Alternative sequence | ID=VSP_057397;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H078 | 152 | 180 | 152 | 180 | Alternative sequence | ID=VSP_044726;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H078 | 152 | 180 | 37 | 707 | Chain | ID=PRO_0000191239;Note=Caseinolytic peptidase B protein homolog |
| Q9H078 | 152 | 180 | 133 | 162 | Repeat | Note=ANK 1 |
| Q9H078 | 152 | 180 | 166 | 195 | Repeat | Note=ANK 2 |
| Q9H078 | 215 | 245 | 216 | 245 | Alternative sequence | ID=VSP_001106;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H078 | 215 | 245 | 37 | 707 | Chain | ID=PRO_0000191239;Note=Caseinolytic peptidase B protein homolog |
| Q9H078 | 359 | 385 | 37 | 707 | Chain | ID=PRO_0000191239;Note=Caseinolytic peptidase B protein homolog |
| Q9H078 | 359 | 385 | 381 | 388 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H078 | 404 | 419 | 37 | 707 | Chain | ID=PRO_0000191239;Note=Caseinolytic peptidase B protein homolog |
| Q9H078 | 404 | 419 | 408 | 408 | Natural variant | ID=VAR_073399;Note=In MEGCANN%3B reduced ATPase activity in vitro. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25597510;Dbxref=dbSNP:rs144078282,PMID:25597510 |
| Q9H078 | 404 | 419 | 411 | 411 | Natural variant | ID=VAR_073400;Note=In MEGCANN. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25597510;Dbxref=dbSNP:rs786205137,PMID:25597510 |
| Q9H078 | 404 | 419 | 413 | 413 | Sequence conflict | Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9H078 | 550 | 590 | 37 | 707 | Chain | ID=PRO_0000191239;Note=Caseinolytic peptidase B protein homolog |
| Q9H078 | 550 | 590 | 589 | 589 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q9H078 | 550 | 590 | 567 | 567 | Natural variant | ID=VAR_073404;Note=In MEGCANN. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25597510;Dbxref=dbSNP:rs150857620,PMID:25597510 |
| Q9H078 | 550 | 590 | 563 | 563 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for CLPB |
| - 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. |
CLPB_HNSC_exon_skip_75357_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-A39Y-01 | exon_skip_75347 | 72005369 | 72005488 | 72005390 | 72005390 | Frame_Shift_Del | T | - | p.E583fs |
| BLCA | TCGA-XF-A9T5-01 | exon_skip_75347 | 72005369 | 72005488 | 72005416 | 72005416 | Nonsense_Mutation | C | A | p.E575* |
| HNSC | TCGA-CV-6952-01 | exon_skip_75349 | 72013348 | 72013392 | 72013356 | 72013356 | Nonsense_Mutation | G | A | p.R417* |
| STAD | TCGA-BR-4256-01 | exon_skip_75349 | 72013348 | 72013392 | 72013356 | 72013356 | Nonsense_Mutation | G | A | p.R417* |
| HNSC | TCGA-F7-A624-01 | exon_skip_75357 | 72114010 | 72114096 | 72114048 | 72114048 | Nonsense_Mutation | C | T | p.W168* |
| GBM | TCGA-19-5952-01 | exon_skip_75357 | 72114010 | 72114096 | 72114088 | 72114088 | Nonsense_Mutation | G | C | p.S155* |
| STAD | TCGA-CG-5723-01 | exon_skip_75356 | 72091325 | 72091428 | 72091323 | 72091323 | Splice_Site | A | G | . |
| STAD | TCGA-CG-5723-01 | exon_skip_75356 | 72091325 | 72091428 | 72091323 | 72091323 | Splice_Site | A | G | p.D216_splice |
| UCEC | TCGA-AP-A051-01 | exon_skip_75357 | 72114010 | 72114096 | 72114097 | 72114097 | Splice_Site | C | A | e3-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-F7-A624-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_75357 | |
| Skipped exon start: 72114010 | |
| Skipped exon end: 72114096 | |
| Mutation start: 72114048 | |
| Mutation end: 72114048 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.W168* | |
exon_skip_309996_HNSC_TCGA-F7-A624-01.png | |
exon_skip_331095_HNSC_TCGA-F7-A624-01.png | |
exon_skip_347690_HNSC_TCGA-F7-A624-01.png | |
exon_skip_372624_HNSC_TCGA-F7-A624-01.png | |
exon_skip_374468_HNSC_TCGA-F7-A624-01.png | |
exon_skip_374469_HNSC_TCGA-F7-A624-01.png | |
exon_skip_446595_HNSC_TCGA-F7-A624-01.png | |
exon_skip_75357_HNSC_TCGA-F7-A624-01.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 |
| NCIH630_LARGE_INTESTINE | 72005369 | 72005488 | 72005443 | 72005443 | Missense_Mutation | C | T | p.V566I |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 72005369 | 72005488 | 72005443 | 72005443 | Missense_Mutation | C | G | p.V566L |
| RT4_URINARY_TRACT | 72005369 | 72005488 | 72005451 | 72005451 | Missense_Mutation | T | C | p.N563S |
| HEC6_ENDOMETRIUM | 72005369 | 72005488 | 72005458 | 72005458 | Missense_Mutation | G | A | p.R561W |
| SNU1040_LARGE_INTESTINE | 72005664 | 72005737 | 72005677 | 72005677 | Missense_Mutation | C | T | p.R546H |
| NCIH2004RT_SOFT_TISSUE | 72005664 | 72005737 | 72005678 | 72005678 | Missense_Mutation | G | A | p.R546C |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 72005664 | 72005737 | 72005678 | 72005678 | Missense_Mutation | G | A | p.R546C |
| HEC151_ENDOMETRIUM | 72013348 | 72013392 | 72013350 | 72013350 | Missense_Mutation | C | T | p.E419K |
| NCIH1573_LUNG | 72019571 | 72019648 | 72019628 | 72019628 | Missense_Mutation | C | T | p.G367S |
| C33A_CERVIX | 72019571 | 72019648 | 72019643 | 72019643 | Missense_Mutation | G | A | p.R362W |
| NCIH835_LUNG | 72069924 | 72070052 | 72069938 | 72069938 | Missense_Mutation | T | A | p.E284V |
| NCIH1573_LUNG | 72069924 | 72070052 | 72069951 | 72069951 | Missense_Mutation | G | C | p.R280G |
| HT1080_SOFT_TISSUE | 72069924 | 72070052 | 72070035 | 72070035 | Missense_Mutation | C | T | p.D252N |
| OVKATE_OVARY | 72083969 | 72084058 | 72083988 | 72083988 | Missense_Mutation | C | A | p.W239C |
| TC138_BONE | 72091325 | 72091428 | 72091372 | 72091372 | Missense_Mutation | C | T | p.S200N |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 72091325 | 72091428 | 72091405 | 72091405 | Missense_Mutation | G | A | p.A189V |
| 639V_URINARY_TRACT | 72091325 | 72091428 | 72091412 | 72091412 | Missense_Mutation | G | T | p.L187I |
| HEC1A_ENDOMETRIUM | 72114010 | 72114096 | 72114019 | 72114019 | Missense_Mutation | C | T | p.R178Q |
| HEC1_ENDOMETRIUM | 72114010 | 72114096 | 72114019 | 72114019 | Missense_Mutation | C | T | p.R178Q |
| HEC1B_ENDOMETRIUM | 72114010 | 72114096 | 72114019 | 72114019 | Missense_Mutation | C | T | p.R178Q |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 72013348 | 72013392 | 72013362 | 72013362 | Nonsense_Mutation | G | A | p.Q415* |
| LS180_LARGE_INTESTINE | 72019571 | 72019648 | 72019586 | 72019586 | Nonsense_Mutation | C | A | p.G381* |
| MFE319_ENDOMETRIUM | 72019571 | 72019648 | 72019571 | 72019571 | Splice_Site | C | A | p.G386* |
| HEC108_ENDOMETRIUM | 72083969 | 72084058 | 72083969 | 72083969 | Splice_Site | C | T | p.V246I |
| RL952_ENDOMETRIUM | 72083969 | 72084058 | 72083970 | 72083970 | Splice_Site | G | A | p.G245G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CLPB |
| 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 CLPB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CLPB |
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RelatedDrugs for CLPB |
| 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 CLPB |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CLPB | C4225393 | 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA | 2 | ORPHANET;UNIPROT |
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