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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 RSPH10B2 |
 Gene summary |
| Gene information | Gene symbol | RSPH10B2 | Gene ID | 728194 |
| Gene name | radial spoke head 10 homolog B2 | |
| Synonyms | - | |
| Cytomap | 7p22.1 | |
| Type of gene | protein-coding | |
| Description | radial spoke head 10 homolog B | |
| Modification date | 20180527 | |
| UniProtAcc | B2RC85 | |
| Context | PubMed: RSPH10B2 [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 RSPH10B2 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 RSPH10B2 |
| 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 RSPH10B2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_464252 | 7 | 6793747:6793908:6794087:6794140:6796987:6797107 | 6794087:6794140 | ENSG00000169402.11 | ENST00000418406.1 |
| exon_skip_464253 | 7 | 6797287:6797562:6798714:6798790:6799856:6799925 | 6798714:6798790 | ENSG00000169402.11 | ENST00000359718.3,ENST00000297186.3,ENST00000403107.1,ENST00000404077.1,ENST00000433859.2 |
| exon_skip_464254 | 7 | 6803558:6803732:6805336:6805422:6806387:6806508 | 6805336:6805422 | ENSG00000169402.11 | ENST00000359718.3,ENST00000297186.3,ENST00000403107.1,ENST00000404077.1,ENST00000433859.2 |
| exon_skip_464255 | 7 | 6815987:6816177:6819240:6819355:6820439:6820519 | 6819240:6819355 | ENSG00000169402.11 | ENST00000297186.3,ENST00000403107.1,ENST00000404077.1,ENST00000433859.2 |
| exon_skip_464256 | 7 | 6815987:6816177:6819240:6819355:6820958:6821107 | 6819240:6819355 | ENSG00000169402.11 | ENST00000359718.3,ENST00000485920.2 |
| exon_skip_464258 | 7 | 6819240:6819355:6820439:6820519:6820958:6821107 | 6820439:6820519 | ENSG00000169402.11 | ENST00000297186.3,ENST00000403107.1,ENST00000404077.1,ENST00000433859.2 |
| exon_skip_464259 | 7 | 6820958:6821107:6825579:6825687:6829261:6829390 | 6825579:6825687 | ENSG00000169402.11 | ENST00000463354.2 |
| exon_skip_464260 | 7 | 6825579:6825687:6826508:6826652:6829261:6829390 | 6826508:6826652 | ENSG00000169402.11 | ENST00000359718.3,ENST00000485920.2,ENST00000297186.3,ENST00000403107.1,ENST00000404077.1,ENST00000433859.2 |
| exon_skip_464261 | 7 | 6829261:6829390:6831534:6831628:6836198:6836397 | 6831534:6831628 | ENSG00000169402.11 | ENST00000359718.3,ENST00000485920.2,ENST00000297186.3,ENST00000403107.1,ENST00000404077.1,ENST00000433859.2 |
| exon_skip_464262 | 7 | 6831534:6831628:6836198:6836397:6837993:6838215 | 6836198:6836397 | ENSG00000169402.11 | ENST00000359718.3,ENST00000485920.2,ENST00000297186.3,ENST00000403107.1,ENST00000404077.1,ENST00000433859.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RSPH10B2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_464252 | 7 | 6793747:6793908:6794087:6794140:6796987:6797107 | 6794087:6794140 | ENSG00000169402.11 | ENST00000418406.1 |
| exon_skip_464253 | 7 | 6797287:6797562:6798714:6798790:6799856:6799925 | 6798714:6798790 | ENSG00000169402.11 | ENST00000403107.1,ENST00000404077.1,ENST00000297186.3,ENST00000433859.2,ENST00000359718.3 |
| exon_skip_464254 | 7 | 6803558:6803732:6805336:6805422:6806387:6806508 | 6805336:6805422 | ENSG00000169402.11 | ENST00000403107.1,ENST00000404077.1,ENST00000297186.3,ENST00000433859.2,ENST00000359718.3 |
| exon_skip_464255 | 7 | 6815987:6816177:6819240:6819355:6820439:6820519 | 6819240:6819355 | ENSG00000169402.11 | ENST00000403107.1,ENST00000404077.1,ENST00000297186.3,ENST00000433859.2 |
| exon_skip_464256 | 7 | 6815987:6816177:6819240:6819355:6820958:6821107 | 6819240:6819355 | ENSG00000169402.11 | ENST00000359718.3,ENST00000485920.2 |
| exon_skip_464258 | 7 | 6819240:6819355:6820439:6820519:6820958:6821107 | 6820439:6820519 | ENSG00000169402.11 | ENST00000403107.1,ENST00000404077.1,ENST00000297186.3,ENST00000433859.2 |
| exon_skip_464259 | 7 | 6820958:6821107:6825579:6825687:6829261:6829390 | 6825579:6825687 | ENSG00000169402.11 | ENST00000463354.2 |
| exon_skip_464260 | 7 | 6825579:6825687:6826508:6826652:6829261:6829390 | 6826508:6826652 | ENSG00000169402.11 | ENST00000403107.1,ENST00000404077.1,ENST00000297186.3,ENST00000433859.2,ENST00000359718.3,ENST00000485920.2 |
| exon_skip_464261 | 7 | 6829261:6829390:6831534:6831628:6836198:6836397 | 6831534:6831628 | ENSG00000169402.11 | ENST00000403107.1,ENST00000404077.1,ENST00000297186.3,ENST00000433859.2,ENST00000359718.3,ENST00000485920.2 |
| exon_skip_464262 | 7 | 6831534:6831628:6836198:6836397:6837993:6838215 | 6836198:6836397 | ENSG00000169402.11 | ENST00000403107.1,ENST00000404077.1,ENST00000297186.3,ENST00000433859.2,ENST00000359718.3,ENST00000485920.2 |
| 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 RSPH10B2 |
| 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 |
| ENST00000297186 | 6798714 | 6798790 | Frame-shift |
| ENST00000403107 | 6798714 | 6798790 | Frame-shift |
| ENST00000404077 | 6798714 | 6798790 | Frame-shift |
| ENST00000297186 | 6805336 | 6805422 | Frame-shift |
| ENST00000403107 | 6805336 | 6805422 | Frame-shift |
| ENST00000404077 | 6805336 | 6805422 | Frame-shift |
| ENST00000297186 | 6819240 | 6819355 | Frame-shift |
| ENST00000403107 | 6819240 | 6819355 | Frame-shift |
| ENST00000404077 | 6819240 | 6819355 | Frame-shift |
| ENST00000297186 | 6820439 | 6820519 | Frame-shift |
| ENST00000403107 | 6820439 | 6820519 | Frame-shift |
| ENST00000404077 | 6820439 | 6820519 | Frame-shift |
| ENST00000297186 | 6831534 | 6831628 | Frame-shift |
| ENST00000403107 | 6831534 | 6831628 | Frame-shift |
| ENST00000404077 | 6831534 | 6831628 | Frame-shift |
| ENST00000297186 | 6836198 | 6836397 | Frame-shift |
| ENST00000403107 | 6836198 | 6836397 | Frame-shift |
| ENST00000404077 | 6836198 | 6836397 | Frame-shift |
| ENST00000297186 | 6826508 | 6826652 | In-frame |
| ENST00000403107 | 6826508 | 6826652 | In-frame |
| ENST00000404077 | 6826508 | 6826652 | 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 |
| ENST00000297186 | 6798714 | 6798790 | Frame-shift |
| ENST00000403107 | 6798714 | 6798790 | Frame-shift |
| ENST00000404077 | 6798714 | 6798790 | Frame-shift |
| ENST00000297186 | 6805336 | 6805422 | Frame-shift |
| ENST00000403107 | 6805336 | 6805422 | Frame-shift |
| ENST00000404077 | 6805336 | 6805422 | Frame-shift |
| ENST00000297186 | 6819240 | 6819355 | Frame-shift |
| ENST00000403107 | 6819240 | 6819355 | Frame-shift |
| ENST00000404077 | 6819240 | 6819355 | Frame-shift |
| ENST00000297186 | 6820439 | 6820519 | Frame-shift |
| ENST00000403107 | 6820439 | 6820519 | Frame-shift |
| ENST00000404077 | 6820439 | 6820519 | Frame-shift |
| ENST00000297186 | 6831534 | 6831628 | Frame-shift |
| ENST00000403107 | 6831534 | 6831628 | Frame-shift |
| ENST00000404077 | 6831534 | 6831628 | Frame-shift |
| ENST00000297186 | 6836198 | 6836397 | Frame-shift |
| ENST00000403107 | 6836198 | 6836397 | Frame-shift |
| ENST00000404077 | 6836198 | 6836397 | Frame-shift |
| ENST00000297186 | 6826508 | 6826652 | In-frame |
| ENST00000403107 | 6826508 | 6826652 | In-frame |
| ENST00000404077 | 6826508 | 6826652 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RSPH10B2 |
| 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 |
| ENST00000297186 | 3059 | 870 | 6826508 | 6826652 | 2074 | 2217 | 622 | 670 |
| ENST00000403107 | 3237 | 870 | 6826508 | 6826652 | 2254 | 2397 | 622 | 670 |
| ENST00000404077 | 3123 | 870 | 6826508 | 6826652 | 2138 | 2281 | 622 | 670 |
| 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 |
| ENST00000297186 | 3059 | 870 | 6826508 | 6826652 | 2074 | 2217 | 622 | 670 |
| ENST00000403107 | 3237 | 870 | 6826508 | 6826652 | 2254 | 2397 | 622 | 670 |
| ENST00000404077 | 3123 | 870 | 6826508 | 6826652 | 2138 | 2281 | 622 | 670 |
| 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 |
| B2RC85 | 622 | 670 | 515 | 870 | Alternative sequence | ID=VSP_035279;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| B2RC85 | 622 | 670 | 515 | 870 | Alternative sequence | ID=VSP_035279;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| B2RC85 | 622 | 670 | 515 | 870 | Alternative sequence | ID=VSP_035279;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| B2RC85 | 622 | 670 | 1 | 870 | Chain | ID=PRO_0000349254;Note=Radial spoke head 10 homolog B2 |
| B2RC85 | 622 | 670 | 1 | 870 | Chain | ID=PRO_0000349254;Note=Radial spoke head 10 homolog B2 |
| B2RC85 | 622 | 670 | 1 | 870 | Chain | ID=PRO_0000349254;Note=Radial spoke head 10 homolog B2 |
| 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 |
| B2RC85 | 622 | 670 | 515 | 870 | Alternative sequence | ID=VSP_035279;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| B2RC85 | 622 | 670 | 515 | 870 | Alternative sequence | ID=VSP_035279;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| B2RC85 | 622 | 670 | 515 | 870 | Alternative sequence | ID=VSP_035279;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| B2RC85 | 622 | 670 | 1 | 870 | Chain | ID=PRO_0000349254;Note=Radial spoke head 10 homolog B2 |
| B2RC85 | 622 | 670 | 1 | 870 | Chain | ID=PRO_0000349254;Note=Radial spoke head 10 homolog B2 |
| B2RC85 | 622 | 670 | 1 | 870 | Chain | ID=PRO_0000349254;Note=Radial spoke head 10 homolog B2 |
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SNVs in the skipped exons for RSPH10B2 |
| - 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-A39Y-01 | exon_skip_464254 | 6805337 | 6805422 | 6805400 | 6805400 | Frame_Shift_Del | A | - | p.K214fs |
| LUAD | TCGA-L9-A443-01 | exon_skip_464258 | 6820440 | 6820519 | 6820456 | 6820457 | Frame_Shift_Del | CT | - | p.L516fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_464258 | 6820440 | 6820519 | 6820467 | 6820467 | Frame_Shift_Del | T | - | p.C519fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_464258 | 6820440 | 6820519 | 6820473 | 6820473 | Frame_Shift_Del | A | - | p.T521fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_464258 | 6820440 | 6820519 | 6820473 | 6820473 | Frame_Shift_Del | A | - | p.T521fs |
| LUAD | TCGA-17-Z023-01 | exon_skip_464259 | 6825580 | 6825687 | 6825592 | 6825595 | Frame_Shift_Del | ATAA | - | p.IN591fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_464262 | 6836199 | 6836397 | 6836358 | 6836358 | Frame_Shift_Del | C | - | p.A798fs |
| SKCM | TCGA-D3-A8GB-06 | exon_skip_464254 | 6805337 | 6805422 | 6805411 | 6805411 | Nonsense_Mutation | G | A | p.W216* |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_464256 exon_skip_464255 | 6819241 | 6819355 | 6819348 | 6819348 | Nonsense_Mutation | G | T | p.E508* |
| HNSC | TCGA-CR-7390-01 | exon_skip_464258 | 6820440 | 6820519 | 6820509 | 6820509 | Nonsense_Mutation | C | A | p.C533* |
| - 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 |
| SHP77_LUNG | 6825580 | 6825687 | 6825631 | 6825632 | Frame_Shift_Del | AT | - | p.I604fs |
| 639V_URINARY_TRACT | 6826509 | 6826652 | 6826513 | 6826513 | Frame_Shift_Del | T | - | p.V624fs |
| SW900_LUNG | 6836199 | 6836397 | 6836240 | 6836241 | Frame_Shift_Ins | - | TTAT | p.N759fs |
| HT115_LARGE_INTESTINE | 6798715 | 6798790 | 6798734 | 6798734 | Missense_Mutation | C | T | p.R92C |
| SARC9371_BONE | 6798715 | 6798790 | 6798777 | 6798777 | Missense_Mutation | G | A | p.G106D |
| GCT_SOFT_TISSUE | 6805337 | 6805422 | 6805340 | 6805340 | Missense_Mutation | T | A | p.S193T |
| 22RV1_PROSTATE | 6805337 | 6805422 | 6805365 | 6805365 | Missense_Mutation | C | T | p.T201M |
| SNU1040_LARGE_INTESTINE | 6805337 | 6805422 | 6805365 | 6805365 | Missense_Mutation | C | T | p.T201M |
| SNGM_ENDOMETRIUM | 6805337 | 6805422 | 6805404 | 6805404 | Missense_Mutation | A | G | p.K214R |
| NCIH1770_LUNG | 6805337 | 6805422 | 6805416 | 6805416 | Missense_Mutation | T | G | p.I218R |
| SF126_CENTRAL_NERVOUS_SYSTEM | 6820440 | 6820519 | 6820457 | 6820457 | Missense_Mutation | T | C | p.L516P |
| M980513_SKIN | 6820440 | 6820519 | 6820464 | 6820464 | Missense_Mutation | G | T | p.L518F |
| THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6820440 | 6820519 | 6820495 | 6820495 | Missense_Mutation | C | T | p.R529C |
| MCC13_SKIN | 6836199 | 6836397 | 6836213 | 6836214 | Missense_Mutation | CC | TT | p.P750F |
| MCC13_SKIN | 6836199 | 6836397 | 6836213 | 6836213 | Missense_Mutation | C | T | p.P750S |
| MCC13_SKIN | 6836199 | 6836397 | 6836214 | 6836214 | Missense_Mutation | C | T | p.P750L |
| NCIH526_LUNG | 6836199 | 6836397 | 6836224 | 6836224 | Missense_Mutation | T | A | p.D753E |
| SNUC2A_LARGE_INTESTINE | 6836199 | 6836397 | 6836244 | 6836244 | Missense_Mutation | C | T | p.T760M |
| SNUC2B_LARGE_INTESTINE | 6836199 | 6836397 | 6836244 | 6836244 | Missense_Mutation | C | T | p.T760M |
| COV644_OVARY | 6836199 | 6836397 | 6836248 | 6836248 | Missense_Mutation | G | C | p.W761C |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6836199 | 6836397 | 6836225 | 6836225 | Nonsense_Mutation | C | T | p.R754* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RSPH10B2 |
| 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 RSPH10B2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RSPH10B2 |
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RelatedDrugs for RSPH10B2 |
| 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 RSPH10B2 |
| 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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