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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 CAPN8 |
 Gene summary |
| Gene information | Gene symbol | CAPN8 | Gene ID | 388743 |
| Gene name | calpain 8 | |
| Synonyms | nCL-2 | |
| Cytomap | 1q41 | |
| Type of gene | protein-coding | |
| Description | calpain-8new calpain 2stomach-specific M-type calpain | |
| Modification date | 20180523 | |
| UniProtAcc | A6NHC0 | |
| Context | PubMed: CAPN8 [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 CAPN8 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 CAPN8 |
| 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 CAPN8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_37188 | 1 | 223711349:223711481:223711740:223711833:223712762:223712834 | 223711740:223711833 | ENSG00000203697.7 | ENST00000484873.2 |
| exon_skip_37198 | 1 | 223716469:223716528:223717428:223717545:223718133:223718212 | 223717428:223717545 | ENSG00000203697.7 | ENST00000430824.2,ENST00000366872.5,ENST00000482401.2 |
| exon_skip_37222 | 1 | 223717428:223717545:223718133:223718212:223718592:223718661 | 223718133:223718212 | ENSG00000203697.7 | ENST00000430824.2,ENST00000366872.5 |
| exon_skip_37253 | 1 | 223718137:223718212:223718592:223718661:223722680:223722745 | 223718592:223718661 | ENSG00000203697.7 | ENST00000430824.2,ENST00000366872.5 |
| exon_skip_37270 | 1 | 223803671:223803847:223806994:223807155:223807893:223807968 | 223806994:223807155 | ENSG00000203697.7 | ENST00000419193.2 |
| exon_skip_37279 | 1 | 223806994:223807155:223807893:223807968:223810516:223810602 | 223807893:223807968 | ENSG00000203697.7 | ENST00000419193.2,ENST00000366873.2 |
| exon_skip_37291 | 1 | 223807897:223807968:223810516:223810602:223813506:223813590 | 223810516:223810602 | ENSG00000203697.7 | ENST00000467384.2,ENST00000419193.2,ENST00000366873.2 |
| exon_skip_37307 | 1 | 223813506:223813590:223814690:223814859:223815710:223815844 | 223814690:223814859 | ENSG00000203697.7 | ENST00000366872.5,ENST00000467384.2,ENST00000419193.2,ENST00000465098.1,ENST00000366873.2 |
| exon_skip_37312 | 1 | 223814741:223814859:223815710:223815844:223816363:223816407 | 223815710:223815844 | ENSG00000203697.7 | ENST00000366872.5,ENST00000467384.2,ENST00000419193.2,ENST00000465098.1,ENST00000525760.1,ENST00000366873.2 |
| exon_skip_37314 | 1 | 223816363:223816482:223830384:223830535:223842031:223842101 | 223830384:223830535 | ENSG00000203697.7 | ENST00000467384.2 |
| exon_skip_37315 | 1 | 223816363:223816482:223842031:223842101:223853111:223853348 | 223842031:223842101 | ENSG00000203697.7 | ENST00000366872.5,ENST00000419193.2,ENST00000366873.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CAPN8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_37188 | 1 | 223711349:223711481:223711740:223711833:223712762:223712834 | 223711740:223711833 | ENSG00000203697.7 | ENST00000484873.2 |
| exon_skip_37198 | 1 | 223716469:223716528:223717428:223717545:223718133:223718212 | 223717428:223717545 | ENSG00000203697.7 | ENST00000430824.2,ENST00000482401.2,ENST00000366872.5 |
| exon_skip_37222 | 1 | 223717428:223717545:223718133:223718212:223718592:223718661 | 223718133:223718212 | ENSG00000203697.7 | ENST00000430824.2,ENST00000366872.5 |
| exon_skip_37270 | 1 | 223803671:223803847:223806994:223807155:223807893:223807968 | 223806994:223807155 | ENSG00000203697.7 | ENST00000419193.2 |
| exon_skip_37279 | 1 | 223806994:223807155:223807893:223807968:223810516:223810602 | 223807893:223807968 | ENSG00000203697.7 | ENST00000419193.2,ENST00000366873.2 |
| exon_skip_37291 | 1 | 223807897:223807968:223810516:223810602:223813506:223813590 | 223810516:223810602 | ENSG00000203697.7 | ENST00000419193.2,ENST00000366873.2,ENST00000467384.2 |
| exon_skip_37307 | 1 | 223813506:223813590:223814690:223814859:223815710:223815844 | 223814690:223814859 | ENSG00000203697.7 | ENST00000366872.5,ENST00000419193.2,ENST00000366873.2,ENST00000467384.2,ENST00000465098.1 |
| exon_skip_37312 | 1 | 223814741:223814859:223815710:223815844:223816363:223816407 | 223815710:223815844 | ENSG00000203697.7 | ENST00000366872.5,ENST00000419193.2,ENST00000366873.2,ENST00000467384.2,ENST00000465098.1,ENST00000525760.1 |
| exon_skip_37314 | 1 | 223816363:223816482:223830384:223830535:223842031:223842101 | 223830384:223830535 | ENSG00000203697.7 | ENST00000467384.2 |
| exon_skip_37315 | 1 | 223816363:223816482:223842031:223842101:223853111:223853348 | 223842031:223842101 | ENSG00000203697.7 | ENST00000366872.5,ENST00000419193.2,ENST00000366873.2 |
| 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 CAPN8 |
| 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 |
| ENST00000366872 | 223718133 | 223718212 | Frame-shift |
| ENST00000366872 | 223814690 | 223814859 | Frame-shift |
| ENST00000366872 | 223815710 | 223815844 | Frame-shift |
| ENST00000366872 | 223842031 | 223842101 | Frame-shift |
| ENST00000366872 | 223717428 | 223717545 | In-frame |
| ENST00000366872 | 223718592 | 223718661 | 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 |
| ENST00000366872 | 223718133 | 223718212 | Frame-shift |
| ENST00000366872 | 223814690 | 223814859 | Frame-shift |
| ENST00000366872 | 223815710 | 223815844 | Frame-shift |
| ENST00000366872 | 223842031 | 223842101 | Frame-shift |
| ENST00000366872 | 223717428 | 223717545 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CAPN8 |
| 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 |
| ENST00000366872 | 2279 | 703 | 223718592 | 223718661 | 1699 | 1767 | 566 | 589 |
| ENST00000366872 | 2279 | 703 | 223717428 | 223717545 | 1847 | 1963 | 615 | 654 |
| 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 |
| ENST00000366872 | 2279 | 703 | 223717428 | 223717545 | 1847 | 1963 | 615 | 654 |
| 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 |
| A6NHC0 | 566 | 589 | 588 | 599 | Calcium binding | Note=1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| A6NHC0 | 566 | 589 | 1 | 703 | Chain | ID=PRO_0000349280;Note=Calpain-8 |
| A6NHC0 | 566 | 589 | 575 | 610 | Domain | Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| A6NHC0 | 615 | 654 | 618 | 629 | Calcium binding | Note=2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| A6NHC0 | 615 | 654 | 1 | 703 | Chain | ID=PRO_0000349280;Note=Calpain-8 |
| A6NHC0 | 615 | 654 | 605 | 640 | Domain | Note=EF-hand 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| 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 |
| A6NHC0 | 615 | 654 | 618 | 629 | Calcium binding | Note=2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| A6NHC0 | 615 | 654 | 1 | 703 | Chain | ID=PRO_0000349280;Note=Calpain-8 |
| A6NHC0 | 615 | 654 | 605 | 640 | Domain | Note=EF-hand 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
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SNVs in the skipped exons for CAPN8 |
| - 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_37270 | 223806995 | 223807155 | 223807012 | 223807012 | Frame_Shift_Del | C | - | p.G373fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_37270 | 223806995 | 223807155 | 223807027 | 223807027 | Frame_Shift_Del | C | - | p.G368fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_37270 | 223806995 | 223807155 | 223807027 | 223807027 | Frame_Shift_Del | C | - | p.G368fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_37270 | 223806995 | 223807155 | 223807096 | 223807096 | Frame_Shift_Del | G | - | p.P345fs |
| LUSC | TCGA-46-3766-01 | exon_skip_37279 | 223807894 | 223807968 | 223807956 | 223807956 | Frame_Shift_Del | C | - | p.W304fs |
| CESC | TCGA-JX-A3Q8-01 | exon_skip_37315 | 223842032 | 223842101 | 223842102 | 223842102 | Splice_Site | C | G | e2-1 |
| - 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 |
| BFTC905_URINARY_TRACT | 223717429 | 223717545 | 223717504 | 223717504 | Missense_Mutation | G | A | p.R630W |
| HSC2_UPPER_AERODIGESTIVE_TRACT | 223717429 | 223717545 | 223717510 | 223717510 | Missense_Mutation | C | G | p.A628P |
| SKOV3_OVARY | 223718593 | 223718661 | 223718650 | 223718651 | Missense_Mutation | CG | TA | p.T570I |
| SNU283_LARGE_INTESTINE | 223806995 | 223807155 | 223807015 | 223807015 | Missense_Mutation | C | G | p.G372A |
| BIN67_OVARY | 223806995 | 223807155 | 223807073 | 223807073 | Missense_Mutation | C | T | p.V353M |
| COV644_OVARY | 223806995 | 223807155 | 223807077 | 223807077 | Missense_Mutation | C | G | p.E351D |
| NCIH513_PLEURA | 223806995 | 223807155 | 223807088 | 223807088 | Missense_Mutation | G | C | p.L348V |
| IM95_STOMACH | 223806995 | 223807155 | 223807121 | 223807121 | Missense_Mutation | G | A | p.R337W |
| RKN_SOFT_TISSUE | 223806995 | 223807155 | 223807121 | 223807121 | Missense_Mutation | G | A | p.R337W |
| HUH1_LIVER | 223806995 | 223807155 | 223807121 | 223807121 | Missense_Mutation | G | A | p.R337W |
| GT3TKB_STOMACH | 223806995 | 223807155 | 223807121 | 223807121 | Missense_Mutation | G | A | p.R337W |
| NCIH513_PLEURA | 223806995 | 223807155 | 223807144 | 223807144 | Missense_Mutation | G | A | p.S329L |
| COLO792_SKIN | 223807894 | 223807968 | 223807910 | 223807910 | Missense_Mutation | C | T | p.E320K |
| MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 223807894 | 223807968 | 223807924 | 223807924 | Missense_Mutation | A | T | p.L315Q |
| RKO_LARGE_INTESTINE | 223810517 | 223810602 | 223810535 | 223810535 | Missense_Mutation | G | A | p.S294L |
| NCIH1568_LUNG | 223810517 | 223810602 | 223810590 | 223810590 | Missense_Mutation | C | A | p.G276C |
| SKMEL5_SKIN | 223810517 | 223810602 | 223810598 | 223810598 | Missense_Mutation | T | C | p.N273S |
| SNB75_CENTRAL_NERVOUS_SYSTEM | 223814691 | 223814859 | 223814767 | 223814767 | Missense_Mutation | T | C | p.K218R |
| IGR37_SKIN | 223815711 | 223815844 | 223815751 | 223815751 | Missense_Mutation | T | A | p.N174Y |
| SISO_CERVIX | 223815711 | 223815844 | 223815805 | 223815805 | Missense_Mutation | C | T | p.D156N |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 223815711 | 223815844 | 223815805 | 223815805 | Missense_Mutation | C | T | p.D156N |
| D283MED_CENTRAL_NERVOUS_SYSTEM | 223815711 | 223815844 | 223815832 | 223815832 | Missense_Mutation | C | T | p.G147R |
| OAW42_OVARY | 223815711 | 223815844 | 223815832 | 223815832 | Missense_Mutation | C | T | p.G147R |
| SNUC5_LARGE_INTESTINE | 223815711 | 223815844 | 223815832 | 223815832 | Missense_Mutation | C | T | p.G147R |
| OSC20_UPPER_AERODIGESTIVE_TRACT | 223842032 | 223842101 | 223842042 | 223842042 | Missense_Mutation | C | G | p.Q99H |
| SISO_CERVIX | 223842032 | 223842101 | 223842059 | 223842059 | Missense_Mutation | G | A | p.R94C |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 223842032 | 223842101 | 223842059 | 223842059 | Missense_Mutation | G | A | p.R94C |
| LC2AD_LUNG | 223842032 | 223842101 | 223842062 | 223842062 | Missense_Mutation | T | A | p.T93S |
| LC2AD_LUNG | 223842032 | 223842101 | 223842065 | 223842065 | Missense_Mutation | C | A | p.A92S |
| WM793_SKIN | 223842032 | 223842101 | 223842091 | 223842091 | Missense_Mutation | G | A | p.P83L |
| ISTMEL1_SKIN | 223806995 | 223807155 | 223807036 | 223807036 | Nonsense_Mutation | C | T | p.W365* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CAPN8 |
| 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 CAPN8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CAPN8 |
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RelatedDrugs for CAPN8 |
| 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 CAPN8 |
| 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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