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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 CATSPERG |
 Gene summary |
| Gene information | Gene symbol | CATSPERG | Gene ID | 57828 |
| Gene name | cation channel sperm associated auxiliary subunit gamma | |
| Synonyms | C19orf15 | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | cation channel sperm-associated protein subunit gammacatsper channel auxiliary subunit gamma | |
| Modification date | 20180522 | |
| UniProtAcc | Q6ZRH7 | |
| Context | PubMed: CATSPERG [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 CATSPERG 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 CATSPERG |
| 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 CATSPERG |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_306453 | 19 | 38827934:38828144:38828232:38828286:38834219:38834364 | 38828232:38828286 | ENSG00000099338.18 | ENST00000410018.1,ENST00000409410.2,ENST00000215069.4,ENST00000409235.3 |
| exon_skip_306455 | 19 | 38828232:38828286:38828379:38828501:38834219:38834364 | 38828379:38828501 | ENSG00000099338.18 | ENST00000471517.1 |
| exon_skip_306457 | 19 | 38834306:38834364:38834632:38834759:38834935:38835008 | 38834632:38834759 | ENSG00000099338.18 | ENST00000412458.2,ENST00000410018.1,ENST00000409410.2,ENST00000466060.1,ENST00000409235.3,ENST00000471517.1,ENST00000312265.5 |
| exon_skip_306463 | 19 | 38834942:38835008:38837089:38837245:38848917:38848968 | 38837089:38837245 | ENSG00000099338.18 | ENST00000466060.1 |
| exon_skip_306466 | 19 | 38837123:38837245:38842900:38843072:38845349:38845487 | 38842900:38843072 | ENSG00000099338.18 | ENST00000410018.1,ENST00000409410.2,ENST00000409235.3 |
| exon_skip_306470 | 19 | 38837089:38837245:38843033:38843072:38845349:38845487 | 38843033:38843072 | ENSG00000099338.18 | ENST00000312265.5 |
| exon_skip_306472 | 19 | 38837123:38837245:38845349:38845487:38847123:38847183 | 38845349:38845487 | ENSG00000099338.18 | ENST00000412458.2,ENST00000471517.1 |
| exon_skip_306477 | 19 | 38845349:38845487:38847123:38847183:38848917:38848968 | 38847123:38847183 | ENSG00000099338.18 | ENST00000410018.1 |
| exon_skip_306480 | 19 | 38847123:38847183:38847381:38847501:38848917:38848968 | 38847381:38847501 | ENSG00000099338.18 | ENST00000412458.2,ENST00000409410.2,ENST00000409235.3,ENST00000471517.1,ENST00000312265.5 |
| exon_skip_306481 | 19 | 38849151:38849201:38850109:38850221:38851128:38851220 | 38850109:38850221 | ENSG00000099338.18 | ENST00000412458.2,ENST00000410018.1,ENST00000409410.2,ENST00000489693.2,ENST00000409235.3,ENST00000471517.1,ENST00000312265.5 |
| exon_skip_306484 | 19 | 38849151:38849201:38851128:38851287:38851370:38851483 | 38851128:38851287 | ENSG00000099338.18 | ENST00000215069.4 |
| exon_skip_306486 | 19 | 38852287:38852501:38852849:38852912:38853015:38853214 | 38852849:38852912 | ENSG00000099338.18 | ENST00000412458.2,ENST00000410018.1,ENST00000215069.4,ENST00000409235.3,ENST00000471517.1,ENST00000312265.5 |
| exon_skip_306488 | 19 | 38852849:38852912:38853015:38853472:38855530:38855611 | 38853015:38853472 | ENSG00000099338.18 | ENST00000471517.1 |
| exon_skip_306490 | 19 | 38853015:38853214:38853353:38853472:38855530:38855611 | 38853353:38853472 | ENSG00000099338.18 | ENST00000412458.2,ENST00000410018.1,ENST00000215069.4,ENST00000409235.3,ENST00000312265.5 |
| exon_skip_306501 | 19 | 38855700:38855757:38857795:38857952:38858148:38858212 | 38857795:38857952 | ENSG00000099338.18 | ENST00000412458.2,ENST00000410018.1,ENST00000215069.4,ENST00000409235.3,ENST00000471517.1,ENST00000312265.5 |
| exon_skip_306503 | 19 | 38858148:38858212:38858320:38858416:38858687:38858777 | 38858320:38858416 | ENSG00000099338.18 | ENST00000412458.2,ENST00000410018.1,ENST00000215069.4,ENST00000409235.3,ENST00000471517.1,ENST00000312265.5 |
| exon_skip_306510 | 19 | 38858687:38858777:38860085:38860264:38860611:38860693 | 38860085:38860264 | ENSG00000099338.18 | ENST00000412458.2 |
| exon_skip_306512 | 19 | 38858687:38858777:38860611:38860704:38860798:38860898 | 38860611:38860704 | ENSG00000099338.18 | ENST00000410018.1,ENST00000215069.4,ENST00000409235.3,ENST00000312265.5 |
| exon_skip_306513 | 19 | 38858687:38858777:38860611:38860713:38860798:38860898 | 38860611:38860713 | ENSG00000099338.18 | ENST00000471517.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CATSPERG |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_306455 | 19 | 38828232:38828286:38828379:38828501:38834219:38834364 | 38828379:38828501 | ENSG00000099338.18 | ENST00000471517.1 |
| exon_skip_306457 | 19 | 38834306:38834364:38834632:38834759:38834935:38835008 | 38834632:38834759 | ENSG00000099338.18 | ENST00000410018.1,ENST00000409235.3,ENST00000312265.5,ENST00000471517.1,ENST00000409410.2,ENST00000466060.1,ENST00000412458.2 |
| exon_skip_306462 | 19 | 38834942:38835008:38837089:38837245:38845349:38845487 | 38837089:38837245 | ENSG00000099338.18 | ENST00000471517.1,ENST00000412458.2 |
| exon_skip_306463 | 19 | 38834942:38835008:38837089:38837245:38848917:38848968 | 38837089:38837245 | ENSG00000099338.18 | ENST00000466060.1 |
| exon_skip_306466 | 19 | 38837123:38837245:38842900:38843072:38845349:38845487 | 38842900:38843072 | ENSG00000099338.18 | ENST00000410018.1,ENST00000409235.3,ENST00000409410.2 |
| exon_skip_306470 | 19 | 38837089:38837245:38843033:38843072:38845349:38845487 | 38843033:38843072 | ENSG00000099338.18 | ENST00000312265.5 |
| exon_skip_306472 | 19 | 38837123:38837245:38845349:38845487:38847123:38847183 | 38845349:38845487 | ENSG00000099338.18 | ENST00000471517.1,ENST00000412458.2 |
| exon_skip_306475 | 19 | 38843054:38843072:38845349:38845487:38848917:38848968 | 38845349:38845487 | ENSG00000099338.18 | ENST00000489693.2 |
| exon_skip_306476 | 19 | 38845349:38845487:38847123:38847183:38847381:38847501 | 38847123:38847183 | ENSG00000099338.18 | ENST00000409235.3,ENST00000312265.5,ENST00000471517.1,ENST00000409410.2,ENST00000412458.2 |
| exon_skip_306477 | 19 | 38845349:38845487:38847123:38847183:38848917:38848968 | 38847123:38847183 | ENSG00000099338.18 | ENST00000410018.1 |
| exon_skip_306478 | 19 | 38845349:38845487:38847381:38847501:38848917:38848968 | 38847381:38847501 | ENSG00000099338.18 | ENST00000215069.4 |
| exon_skip_306480 | 19 | 38847123:38847183:38847381:38847501:38848917:38848968 | 38847381:38847501 | ENSG00000099338.18 | ENST00000409235.3,ENST00000312265.5,ENST00000471517.1,ENST00000409410.2,ENST00000412458.2 |
| exon_skip_306481 | 19 | 38849151:38849201:38850109:38850221:38851128:38851220 | 38850109:38850221 | ENSG00000099338.18 | ENST00000410018.1,ENST00000409235.3,ENST00000312265.5,ENST00000471517.1,ENST00000409410.2,ENST00000412458.2,ENST00000489693.2 |
| exon_skip_306484 | 19 | 38849151:38849201:38851128:38851287:38851370:38851483 | 38851128:38851287 | ENSG00000099338.18 | ENST00000215069.4 |
| exon_skip_306486 | 19 | 38852287:38852501:38852849:38852912:38853015:38853214 | 38852849:38852912 | ENSG00000099338.18 | ENST00000410018.1,ENST00000409235.3,ENST00000312265.5,ENST00000471517.1,ENST00000215069.4,ENST00000412458.2 |
| exon_skip_306488 | 19 | 38852849:38852912:38853015:38853472:38855530:38855611 | 38853015:38853472 | ENSG00000099338.18 | ENST00000471517.1 |
| exon_skip_306490 | 19 | 38853015:38853214:38853353:38853472:38855530:38855611 | 38853353:38853472 | ENSG00000099338.18 | ENST00000410018.1,ENST00000409235.3,ENST00000312265.5,ENST00000215069.4,ENST00000412458.2 |
| exon_skip_306501 | 19 | 38855700:38855757:38857795:38857952:38858148:38858212 | 38857795:38857952 | ENSG00000099338.18 | ENST00000410018.1,ENST00000409235.3,ENST00000312265.5,ENST00000471517.1,ENST00000215069.4,ENST00000412458.2 |
| exon_skip_306503 | 19 | 38858148:38858212:38858320:38858416:38858687:38858777 | 38858320:38858416 | ENSG00000099338.18 | ENST00000410018.1,ENST00000409235.3,ENST00000312265.5,ENST00000471517.1,ENST00000215069.4,ENST00000412458.2 |
| exon_skip_306510 | 19 | 38858687:38858777:38860085:38860264:38860611:38860693 | 38860085:38860264 | ENSG00000099338.18 | ENST00000412458.2 |
| exon_skip_306512 | 19 | 38858687:38858777:38860611:38860704:38860798:38860898 | 38860611:38860704 | ENSG00000099338.18 | ENST00000410018.1,ENST00000409235.3,ENST00000312265.5,ENST00000215069.4 |
| exon_skip_306513 | 19 | 38858687:38858777:38860611:38860713:38860798:38860898 | 38860611:38860713 | ENSG00000099338.18 | ENST00000471517.1 |
| 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 CATSPERG |
| 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 |
| ENST00000409235 | 38834632 | 38834759 | Frame-shift |
| ENST00000409235 | 38842900 | 38843072 | Frame-shift |
| ENST00000409235 | 38850109 | 38850221 | Frame-shift |
| ENST00000409235 | 38853353 | 38853472 | Frame-shift |
| ENST00000409235 | 38857795 | 38857952 | Frame-shift |
| ENST00000409235 | 38828232 | 38828286 | In-frame |
| ENST00000409235 | 38847381 | 38847501 | In-frame |
| ENST00000409235 | 38852849 | 38852912 | In-frame |
| ENST00000409235 | 38858320 | 38858416 | In-frame |
| ENST00000409235 | 38860611 | 38860704 | 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 |
| ENST00000409235 | 38834632 | 38834759 | Frame-shift |
| ENST00000409235 | 38842900 | 38843072 | Frame-shift |
| ENST00000409235 | 38850109 | 38850221 | Frame-shift |
| ENST00000409235 | 38853353 | 38853472 | Frame-shift |
| ENST00000409235 | 38857795 | 38857952 | Frame-shift |
| ENST00000409235 | 38847123 | 38847183 | In-frame |
| ENST00000409235 | 38847381 | 38847501 | In-frame |
| ENST00000409235 | 38852849 | 38852912 | In-frame |
| ENST00000409235 | 38858320 | 38858416 | In-frame |
| ENST00000409235 | 38860611 | 38860704 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CATSPERG |
| 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 |
| ENST00000409235 | 3763 | 1159 | 38828232 | 38828286 | 386 | 439 | 90 | 108 |
| ENST00000409235 | 3763 | 1159 | 38847381 | 38847501 | 1311 | 1430 | 398 | 438 |
| ENST00000409235 | 3763 | 1159 | 38852849 | 38852912 | 2210 | 2272 | 698 | 719 |
| ENST00000409235 | 3763 | 1159 | 38858320 | 38858416 | 2950 | 3045 | 945 | 976 |
| ENST00000409235 | 3763 | 1159 | 38860611 | 38860704 | 3136 | 3228 | 1007 | 1037 |
| 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 |
| ENST00000409235 | 3763 | 1159 | 38847123 | 38847183 | 1251 | 1310 | 378 | 398 |
| ENST00000409235 | 3763 | 1159 | 38847381 | 38847501 | 1311 | 1430 | 398 | 438 |
| ENST00000409235 | 3763 | 1159 | 38852849 | 38852912 | 2210 | 2272 | 698 | 719 |
| ENST00000409235 | 3763 | 1159 | 38858320 | 38858416 | 2950 | 3045 | 945 | 976 |
| ENST00000409235 | 3763 | 1159 | 38860611 | 38860704 | 3136 | 3228 | 1007 | 1037 |
| 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 |
| Q6ZRH7 | 90 | 108 | 36 | 1159 | Chain | ID=PRO_0000019565;Note=Cation channel sperm-associated protein subunit gamma |
| Q6ZRH7 | 90 | 108 | 36 | 1066 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6ZRH7 | 398 | 438 | 36 | 1159 | Chain | ID=PRO_0000019565;Note=Cation channel sperm-associated protein subunit gamma |
| Q6ZRH7 | 398 | 438 | 426 | 426 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6ZRH7 | 398 | 438 | 36 | 1066 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6ZRH7 | 698 | 719 | 36 | 1159 | Chain | ID=PRO_0000019565;Note=Cation channel sperm-associated protein subunit gamma |
| Q6ZRH7 | 698 | 719 | 36 | 1066 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6ZRH7 | 945 | 976 | 36 | 1159 | Chain | ID=PRO_0000019565;Note=Cation channel sperm-associated protein subunit gamma |
| Q6ZRH7 | 945 | 976 | 36 | 1066 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6ZRH7 | 1007 | 1037 | 36 | 1159 | Chain | ID=PRO_0000019565;Note=Cation channel sperm-associated protein subunit gamma |
| Q6ZRH7 | 1007 | 1037 | 36 | 1066 | Topological domain | Note=Extracellular;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 |
| Q6ZRH7 | 378 | 398 | 36 | 1159 | Chain | ID=PRO_0000019565;Note=Cation channel sperm-associated protein subunit gamma |
| Q6ZRH7 | 378 | 398 | 36 | 1066 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6ZRH7 | 398 | 438 | 36 | 1159 | Chain | ID=PRO_0000019565;Note=Cation channel sperm-associated protein subunit gamma |
| Q6ZRH7 | 398 | 438 | 426 | 426 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6ZRH7 | 398 | 438 | 36 | 1066 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6ZRH7 | 698 | 719 | 36 | 1159 | Chain | ID=PRO_0000019565;Note=Cation channel sperm-associated protein subunit gamma |
| Q6ZRH7 | 698 | 719 | 36 | 1066 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6ZRH7 | 945 | 976 | 36 | 1159 | Chain | ID=PRO_0000019565;Note=Cation channel sperm-associated protein subunit gamma |
| Q6ZRH7 | 945 | 976 | 36 | 1066 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6ZRH7 | 1007 | 1037 | 36 | 1159 | Chain | ID=PRO_0000019565;Note=Cation channel sperm-associated protein subunit gamma |
| Q6ZRH7 | 1007 | 1037 | 36 | 1066 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CATSPERG |
| - 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-A1EG-01 | exon_skip_306466 | 38842901 | 38843072 | 38842939 | 38842939 | Frame_Shift_Del | C | - | p.C288fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_306466 | 38842901 | 38843072 | 38843026 | 38843026 | Frame_Shift_Del | T | - | p.Y317fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_306486 | 38852850 | 38852912 | 38852873 | 38852873 | Frame_Shift_Del | C | - | p.D706fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_306488 | 38853016 | 38853472 | 38853455 | 38853455 | Frame_Shift_Del | A | - | p.N820fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_306490 | 38853354 | 38853472 | 38853455 | 38853455 | Frame_Shift_Del | A | - | p.N820fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_306488 | 38853016 | 38853472 | 38853455 | 38853455 | Frame_Shift_Del | A | - | p.N820fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_306490 | 38853354 | 38853472 | 38853455 | 38853455 | Frame_Shift_Del | A | - | p.N820fs |
| COAD | TCGA-D5-6540-01 | exon_skip_306501 | 38857796 | 38857952 | 38857828 | 38857828 | Frame_Shift_Del | C | - | p.C882fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_306512 | 38860612 | 38860704 | 38860668 | 38860668 | Frame_Shift_Del | C | - | p.A1026fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_306513 | 38860612 | 38860713 | 38860668 | 38860668 | Frame_Shift_Del | C | - | p.A1026fs |
| HNSC | TCGA-D6-6516-01 | exon_skip_306477 | 38847124 | 38847183 | 38847129 | 38847129 | Nonsense_Mutation | C | T | p.Q381* |
| LUSC | TCGA-22-4599-01 | exon_skip_306477 | 38847124 | 38847183 | 38847171 | 38847171 | Nonsense_Mutation | G | T | p.E395* |
| LUSC | TCGA-66-2766-01 | exon_skip_306484 | 38851129 | 38851287 | 38851187 | 38851187 | Nonsense_Mutation | G | A | p.W556* |
| BLCA | TCGA-GD-A6C6-01 | exon_skip_306488 | 38853016 | 38853472 | 38853419 | 38853419 | Nonsense_Mutation | G | T | p.E808* |
| BLCA | TCGA-GD-A6C6-01 | exon_skip_306490 | 38853354 | 38853472 | 38853419 | 38853419 | Nonsense_Mutation | G | T | p.E808* |
| KIRP | TCGA-AT-A5NU-01 | exon_skip_306481 | 38850110 | 38850221 | 38850108 | 38850108 | Splice_Site | A | T | . |
| KIRP | TCGA-AT-A5NU-01 | exon_skip_306481 | 38850110 | 38850221 | 38850108 | 38850108 | Splice_Site | A | T | p.S499_splice |
| - 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 |
| CCK81_LARGE_INTESTINE | 38857796 | 38857952 | 38857828 | 38857828 | Frame_Shift_Del | C | - | p.C882fs |
| NCIH1105_LUNG | 38858321 | 38858416 | 38858357 | 38858357 | Frame_Shift_Del | G | - | p.L957fs |
| KYSE70_OESOPHAGUS | 38845350 | 38845487 | 38845422 | 38845423 | Frame_Shift_Ins | - | T | p.E358fs |
| SNU1040_LARGE_INTESTINE | 38834633 | 38834759 | 38834677 | 38834677 | Missense_Mutation | C | T | p.P172S |
| CHLA57_BONE | 38834633 | 38834759 | 38834710 | 38834710 | Missense_Mutation | C | T | p.R183C |
| HCC1569_BREAST | 38837090 | 38837245 | 38837141 | 38837141 | Missense_Mutation | T | C | p.W241R |
| SNU81_LARGE_INTESTINE | 38842901 | 38843072 | 38843034 | 38843034 | Missense_Mutation | G | T | p.G320V |
| SNU81_LARGE_INTESTINE | 38843034 | 38843072 | 38843034 | 38843034 | Missense_Mutation | G | T | p.G320V |
| NCIH520_LUNG | 38845350 | 38845487 | 38845439 | 38845439 | Missense_Mutation | C | T | p.L363F |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38845350 | 38845487 | 38845439 | 38845439 | Missense_Mutation | C | T | p.L363F |
| TM31_CENTRAL_NERVOUS_SYSTEM | 38845350 | 38845487 | 38845478 | 38845478 | Missense_Mutation | A | G | p.T376A |
| HCT15_LARGE_INTESTINE | 38850110 | 38850221 | 38850118 | 38850118 | Missense_Mutation | A | G | p.K502R |
| 451LU_SKIN | 38850110 | 38850221 | 38850120 | 38850120 | Missense_Mutation | G | A | p.E503K |
| SNU81_LARGE_INTESTINE | 38850110 | 38850221 | 38850159 | 38850159 | Missense_Mutation | T | C | p.S516P |
| HCC2450_LUNG | 38850110 | 38850221 | 38850164 | 38850164 | Missense_Mutation | C | G | p.I517M |
| HT115_LARGE_INTESTINE | 38850110 | 38850221 | 38850198 | 38850198 | Missense_Mutation | G | A | p.A529T |
| JHH1_LIVER | 38852850 | 38852912 | 38852902 | 38852902 | Missense_Mutation | A | T | p.K716I |
| DU145_PROSTATE | 38853016 | 38853472 | 38853080 | 38853080 | Missense_Mutation | G | A | p.S741N |
| HARA_LUNG | 38853016 | 38853472 | 38853097 | 38853097 | Missense_Mutation | A | T | p.N747Y |
| TT2609C02_THYROID | 38853016 | 38853472 | 38853162 | 38853162 | Missense_Mutation | C | A | p.F768L |
| TT2609C02_THYROID | 38853354 | 38853472 | 38853418 | 38853418 | Missense_Mutation | C | G | p.I807M |
| TT2609C02_THYROID | 38853016 | 38853472 | 38853418 | 38853418 | Missense_Mutation | C | G | p.I807M |
| JHH7_LIVER | 38857796 | 38857952 | 38857829 | 38857829 | Missense_Mutation | C | T | p.P883S |
| CORL279_LUNG | 38857796 | 38857952 | 38857863 | 38857863 | Missense_Mutation | A | G | p.Y894C |
| NCIH2141_LUNG | 38857796 | 38857952 | 38857887 | 38857887 | Missense_Mutation | A | C | p.K902T |
| HCT15_LARGE_INTESTINE | 38857796 | 38857952 | 38857901 | 38857901 | Missense_Mutation | T | G | p.F907V |
| EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38858321 | 38858416 | 38858346 | 38858346 | Missense_Mutation | G | T | p.G954W |
| NCIH1770_LUNG | 38851129 | 38851287 | 38851187 | 38851187 | Nonsense_Mutation | G | A | p.W556* |
| HCC2998_LARGE_INTESTINE | 38853016 | 38853472 | 38853070 | 38853070 | Nonsense_Mutation | G | T | p.E738* |
| KYSE150_OESOPHAGUS | 38860612 | 38860704 | 38860611 | 38860612 | Splice_Site | GG | TT | p.G1007V |
| KYSE150_OESOPHAGUS | 38860612 | 38860713 | 38860611 | 38860612 | Splice_Site | GG | TT | p.G1007V |
| ASH3_THYROID | 38860612 | 38860704 | 38860693 | 38860703 | Splice_Site | GGTGAGCAATA | - | p.VSNR1035fs |
| ASH3_THYROID | 38860612 | 38860713 | 38860693 | 38860703 | Splice_Site | GGTGAGCAATA | - | p.VSNR1035fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CATSPERG |
| 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 CATSPERG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CATSPERG |
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RelatedDrugs for CATSPERG |
| 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 CATSPERG |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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