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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 CATSPERB |
 Gene summary |
| Gene information | Gene symbol | CATSPERB | Gene ID | 79820 |
| Gene name | cation channel sperm associated auxiliary subunit beta | |
| Synonyms | C14orf161|CatSper(beta) | |
| Cytomap | 14q32.12 | |
| Type of gene | protein-coding | |
| Description | cation channel sperm-associated protein subunit betacatSper-betacation channel, sperm associated betacatsper channel auxiliary subunit beta | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H7T0 | |
| Context | PubMed: CATSPERB [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 CATSPERB 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 CATSPERB |
| 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 CATSPERB |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_115083 | 14 | 92074637:92074748:92076823:92077021:92083940:92084080 | 92076823:92077021 | ENSG00000133962.3 | ENST00000256343.3,ENST00000557036.1 |
| exon_skip_115087 | 14 | 92102768:92102923:92105439:92105594:92126180:92126325 | 92105439:92105594 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115092 | 14 | 92105439:92105594:92126180:92126325:92136157:92136274 | 92126180:92126325 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115095 | 14 | 92136157:92136316:92139210:92139360:92140519:92140566 | 92139210:92139360 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115106 | 14 | 92139210:92139360:92140519:92140566:92150220:92150287 | 92140519:92140566 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115112 | 14 | 92140519:92140566:92150220:92150287:92157866:92157899 | 92150220:92150287 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115115 | 14 | 92150220:92150287:92157866:92157899:92159469:92159588 | 92157866:92157899 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115117 | 14 | 92159727:92159823:92170895:92171045:92174484:92174580 | 92170895:92171045 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115119 | 14 | 92185761:92185822:92189392:92189533:92191423:92191512 | 92189392:92189533 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115120 | 14 | 92185761:92185822:92191423:92191512:92195744:92195823 | 92191423:92191512 | ENSG00000133962.3 | ENST00000553329.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CATSPERB |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_115083 | 14 | 92074637:92074748:92076823:92077021:92083940:92084080 | 92076823:92077021 | ENSG00000133962.3 | ENST00000557036.1,ENST00000256343.3 |
| exon_skip_115087 | 14 | 92102768:92102923:92105439:92105594:92126180:92126325 | 92105439:92105594 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115092 | 14 | 92105439:92105594:92126180:92126325:92136157:92136274 | 92126180:92126325 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115095 | 14 | 92136157:92136316:92139210:92139360:92140519:92140566 | 92139210:92139360 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115106 | 14 | 92139210:92139360:92140519:92140566:92150220:92150287 | 92140519:92140566 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115112 | 14 | 92140519:92140566:92150220:92150287:92157866:92157899 | 92150220:92150287 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115115 | 14 | 92150220:92150287:92157866:92157899:92159469:92159588 | 92157866:92157899 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115117 | 14 | 92159727:92159823:92170895:92171045:92174484:92174580 | 92170895:92171045 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115119 | 14 | 92185761:92185822:92189392:92189533:92191423:92191512 | 92189392:92189533 | ENSG00000133962.3 | ENST00000256343.3 |
| exon_skip_115120 | 14 | 92185761:92185822:92191423:92191512:92195744:92195823 | 92191423:92191512 | ENSG00000133962.3 | ENST00000553329.1 |
| 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 CATSPERB |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CATSPERB |
| 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 |
| 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 |
| 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 CATSPERB |
| - 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_115095 | 92139211 | 92139360 | 92139282 | 92139282 | Frame_Shift_Del | T | - | p.I353fs |
| LUAD | TCGA-95-A4VN-01 | exon_skip_115112 | 92150221 | 92150287 | 92150224 | 92150224 | Nonsense_Mutation | C | A | p.E310* |
| CHOL | TCGA-W5-AA2W-01 | exon_skip_115087 | 92105440 | 92105594 | 92105595 | 92105595 | Splice_Site | C | T | . |
| ESCA | TCGA-JY-A938-01 | exon_skip_115115 | 92157867 | 92157899 | 92157865 | 92157865 | Splice_Site | A | G | . |
| SKCM | TCGA-EE-A2MS-06 | exon_skip_115119 | 92189393 | 92189533 | 92189534 | 92189534 | Splice_Site | C | 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 |
| LB1047RCC_KIDNEY | 92139211 | 92139360 | 92139281 | 92139282 | Frame_Shift_Ins | - | T | p.I353fs |
| DOV13_OVARY | 92076824 | 92077021 | 92076928 | 92076928 | Missense_Mutation | G | C | p.L832V |
| HEC108_ENDOMETRIUM | 92076824 | 92077021 | 92076966 | 92076966 | Missense_Mutation | G | A | p.T819M |
| CORL279_LUNG | 92105440 | 92105594 | 92105499 | 92105499 | Missense_Mutation | G | T | p.R510S |
| HCC2998_LARGE_INTESTINE | 92105440 | 92105594 | 92105555 | 92105555 | Missense_Mutation | C | A | p.R491I |
| SNU81_LARGE_INTESTINE | 92105440 | 92105594 | 92105555 | 92105555 | Missense_Mutation | C | A | p.R491I |
| PACADD119_PANCREAS | 92126181 | 92126325 | 92126211 | 92126211 | Missense_Mutation | G | T | p.Q468K |
| SW1710_URINARY_TRACT | 92126181 | 92126325 | 92126250 | 92126250 | Missense_Mutation | A | T | p.F455I |
| PACADD137_PANCREAS | 92126181 | 92126325 | 92126252 | 92126252 | Missense_Mutation | G | A | p.T454I |
| SW1116_LARGE_INTESTINE | 92126181 | 92126325 | 92126264 | 92126264 | Missense_Mutation | A | T | p.I450N |
| MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 92139211 | 92139360 | 92139222 | 92139222 | Missense_Mutation | A | G | p.F373L |
| MEWO_SKIN | 92139211 | 92139360 | 92139234 | 92139234 | Missense_Mutation | C | T | p.G369R |
| HCC2998_LARGE_INTESTINE | 92139211 | 92139360 | 92139280 | 92139280 | Missense_Mutation | A | C | p.I353M |
| HEC1_ENDOMETRIUM | 92139211 | 92139360 | 92139317 | 92139317 | Missense_Mutation | A | G | p.V341A |
| PL18_PANCREAS | 92140520 | 92140566 | 92140530 | 92140530 | Missense_Mutation | G | T | p.T323N |
| RCM1_LARGE_INTESTINE | 92140520 | 92140566 | 92140530 | 92140530 | Missense_Mutation | G | T | p.T323N |
| CW2_LARGE_INTESTINE | 92150221 | 92150287 | 92150259 | 92150259 | Missense_Mutation | T | C | p.Y298C |
| HEC108_ENDOMETRIUM | 92150221 | 92150287 | 92150260 | 92150260 | Missense_Mutation | A | G | p.Y298H |
| TE15_OESOPHAGUS | 92150221 | 92150287 | 92150268 | 92150268 | Missense_Mutation | T | C | p.K295R |
| MEWO_SKIN | 92150221 | 92150287 | 92150271 | 92150271 | Missense_Mutation | C | T | p.G294E |
| MET2B | 92150221 | 92150287 | 92150271 | 92150271 | Missense_Mutation | C | T | p.G294E |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 92157867 | 92157899 | 92157887 | 92157887 | Missense_Mutation | C | G | p.D282H |
| WM983B_SKIN | 92170896 | 92171045 | 92170907 | 92170907 | Missense_Mutation | G | C | p.T202R |
| HT115_LARGE_INTESTINE | 92170896 | 92171045 | 92170983 | 92170983 | Missense_Mutation | G | A | p.P177S |
| WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 92170896 | 92171045 | 92171018 | 92171018 | Missense_Mutation | T | A | p.D165V |
| MM383_SKIN | 92170896 | 92171045 | 92171024 | 92171024 | Missense_Mutation | G | A | p.P163L |
| SNU1040_LARGE_INTESTINE | 92170896 | 92171045 | 92171042 | 92171042 | Missense_Mutation | G | A | p.P157L |
| ECGI10_OESOPHAGUS | 92189393 | 92189533 | 92189428 | 92189428 | Missense_Mutation | T | C | p.T92A |
| NCIH748_LUNG | 92191424 | 92191512 | 92191434 | 92191434 | Missense_Mutation | A | G | p.L53S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CATSPERB |
| 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 CATSPERB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CATSPERB |
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RelatedDrugs for CATSPERB |
| 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 CATSPERB |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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