|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for SPAG9 |
 Gene summary |
| Gene information | Gene symbol | SPAG9 | Gene ID | 9043 |
| Gene name | sperm associated antigen 9 | |
| Synonyms | CT89|HLC-6|HLC4|HLC6|JIP-4|JIP4|JLP|PHET|PIG6 | |
| Cytomap | 17q21.33 | |
| Type of gene | protein-coding | |
| Description | C-Jun-amino-terminal kinase-interacting protein 4JNK interacting proteinJNK/SAPK-associated proteinMax-binding proteinc-Jun NH2-terminal kinase-associated leucine zipper proteincancer/testis antigen 89human lung cancer oncogene 6 proteinlung cancer | |
| Modification date | 20180523 | |
| UniProtAcc | O60271 | |
| Context | PubMed: SPAG9 [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 |
| SPAG9 | GO:0042147 | retrograde transport, endosome to Golgi | 19056739 |
Top |
Exon skipping events across known transcript of Ensembl for SPAG9 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. |
 |
Top |
Gene isoform structures and expression levels for SPAG9 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for SPAG9 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_291501 | 17 | 49043660:49043748:49048067:49048217:49052131:49052308 | 49048067:49048217 | ENSG00000008294.16 | ENST00000506500.1,ENST00000505279.1,ENST00000357122.4,ENST00000262013.7,ENST00000510283.1 |
| exon_skip_291503 | 17 | 49048067:49048217:49052131:49052308:49054468:49054582 | 49052131:49052308 | ENSG00000008294.16 | ENST00000505279.1,ENST00000357122.4,ENST00000262013.7 |
| exon_skip_291511 | 17 | 49052230:49052308:49053223:49053262:49054468:49054582 | 49053223:49053262 | ENSG00000008294.16 | ENST00000510283.1 |
| exon_skip_291515 | 17 | 49052230:49052308:49054468:49054582:49057106:49057278 | 49054468:49054582 | ENSG00000008294.16 | ENST00000505279.1,ENST00000357122.4,ENST00000262013.7,ENST00000513746.2 |
| exon_skip_291518 | 17 | 49053223:49053262:49054468:49054582:49057106:49057278 | 49054468:49054582 | ENSG00000008294.16 | ENST00000510283.1 |
| exon_skip_291520 | 17 | 49054468:49054582:49057106:49057278:49059884:49060033 | 49057106:49057278 | ENSG00000008294.16 | ENST00000505279.1,ENST00000357122.4,ENST00000262013.7,ENST00000510283.1,ENST00000511312.2 |
| exon_skip_291523 | 17 | 49059884:49060033:49062283:49062351:49063058:49063139 | 49062283:49062351 | ENSG00000008294.16 | ENST00000505279.1,ENST00000357122.4,ENST00000262013.7,ENST00000510283.1 |
| exon_skip_291525 | 17 | 49064472:49064598:49067037:49067188:49067810:49067946 | 49067037:49067188 | ENSG00000008294.16 | ENST00000513906.1 |
| exon_skip_291526 | 17 | 49064472:49064598:49067037:49067233:49067810:49067946 | 49067037:49067233 | ENSG00000008294.16 | ENST00000505279.1,ENST00000357122.4,ENST00000262013.7,ENST00000513746.2,ENST00000510283.1 |
| exon_skip_291527 | 17 | 49072804:49072894:49073925:49074055:49075804:49075978 | 49073925:49074055 | ENSG00000008294.16 | ENST00000514613.1,ENST00000505173.1,ENST00000505279.1,ENST00000357122.4,ENST00000262013.7,ENST00000510283.1 |
| exon_skip_291529 | 17 | 49073925:49074055:49075804:49075978:49077021:49077078 | 49075804:49075978 | ENSG00000008294.16 | ENST00000513827.1,ENST00000514613.1,ENST00000505173.1,ENST00000357122.4,ENST00000262013.7,ENST00000510283.1 |
| exon_skip_291530 | 17 | 49075804:49075978:49076836:49076848:49077021:49077078 | 49076836:49076848 | ENSG00000008294.16 | ENST00000505279.1 |
| exon_skip_291531 | 17 | 49077021:49077078:49079075:49079206:49082572:49082624 | 49079075:49079206 | ENSG00000008294.16 | ENST00000514613.1,ENST00000505173.1,ENST00000505279.1,ENST00000357122.4,ENST00000262013.7,ENST00000510283.1 |
| exon_skip_291532 | 17 | 49084629:49084687:49085197:49085212:49086491:49086503 | 49085197:49085212 | ENSG00000008294.16 | ENST00000511795.1 |
| exon_skip_291535 | 17 | 49084629:49084687:49091592:49091714:49097519:49097619 | 49091592:49091714 | ENSG00000008294.16 | ENST00000514613.1,ENST00000505173.1,ENST00000576492.1,ENST00000505279.1,ENST00000357122.4,ENST00000262013.7,ENST00000510283.1 |
| exon_skip_291537 | 17 | 49085197:49085212:49086491:49086503:49091592:49091714 | 49086491:49086503 | ENSG00000008294.16 | ENST00000511795.1 |
| exon_skip_291539 | 17 | 49098612:49098726:49109041:49109083:49118861:49119012 | 49109041:49109083 | ENSG00000008294.16 | ENST00000505173.1,ENST00000510855.1,ENST00000262013.7 |
| exon_skip_291542 | 17 | 49118861:49119012:49124735:49124830:49133772:49133785 | 49124735:49124830 | ENSG00000008294.16 | ENST00000514613.1,ENST00000505173.1,ENST00000505279.1,ENST00000357122.4,ENST00000262013.7 |
| exon_skip_291545 | 17 | 49124735:49124830:49133772:49133843:49156944:49156983 | 49133772:49133843 | ENSG00000008294.16 | ENST00000514613.1,ENST00000505279.1,ENST00000357122.4,ENST00000262013.7 |
| exon_skip_291547 | 17 | 49133772:49133843:49156944:49157065:49197714:49198095 | 49156944:49157065 | ENSG00000008294.16 | ENST00000505279.1,ENST00000357122.4 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for SPAG9 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_291501 | 17 | 49043660:49043748:49048067:49048217:49052131:49052308 | 49048067:49048217 | ENSG00000008294.16 | ENST00000262013.7,ENST00000510283.1,ENST00000505279.1,ENST00000357122.4,ENST00000506500.1 |
| exon_skip_291503 | 17 | 49048067:49048217:49052131:49052308:49054468:49054582 | 49052131:49052308 | ENSG00000008294.16 | ENST00000262013.7,ENST00000505279.1,ENST00000357122.4 |
| exon_skip_291511 | 17 | 49052230:49052308:49053223:49053262:49054468:49054582 | 49053223:49053262 | ENSG00000008294.16 | ENST00000510283.1 |
| exon_skip_291515 | 17 | 49052230:49052308:49054468:49054582:49057106:49057278 | 49054468:49054582 | ENSG00000008294.16 | ENST00000262013.7,ENST00000505279.1,ENST00000357122.4,ENST00000513746.2 |
| exon_skip_291518 | 17 | 49053223:49053262:49054468:49054582:49057106:49057278 | 49054468:49054582 | ENSG00000008294.16 | ENST00000510283.1 |
| exon_skip_291520 | 17 | 49054468:49054582:49057106:49057278:49059884:49060033 | 49057106:49057278 | ENSG00000008294.16 | ENST00000262013.7,ENST00000510283.1,ENST00000505279.1,ENST00000357122.4,ENST00000511312.2 |
| exon_skip_291523 | 17 | 49059884:49060033:49062283:49062351:49063058:49063139 | 49062283:49062351 | ENSG00000008294.16 | ENST00000262013.7,ENST00000510283.1,ENST00000505279.1,ENST00000357122.4 |
| exon_skip_291525 | 17 | 49064472:49064598:49067037:49067188:49067810:49067946 | 49067037:49067188 | ENSG00000008294.16 | ENST00000513906.1 |
| exon_skip_291526 | 17 | 49064472:49064598:49067037:49067233:49067810:49067946 | 49067037:49067233 | ENSG00000008294.16 | ENST00000262013.7,ENST00000510283.1,ENST00000505279.1,ENST00000357122.4,ENST00000513746.2 |
| exon_skip_291527 | 17 | 49072804:49072894:49073925:49074055:49075804:49075978 | 49073925:49074055 | ENSG00000008294.16 | ENST00000262013.7,ENST00000510283.1,ENST00000505279.1,ENST00000357122.4,ENST00000514613.1,ENST00000505173.1 |
| exon_skip_291529 | 17 | 49073925:49074055:49075804:49075978:49077021:49077078 | 49075804:49075978 | ENSG00000008294.16 | ENST00000262013.7,ENST00000510283.1,ENST00000357122.4,ENST00000514613.1,ENST00000505173.1,ENST00000513827.1 |
| exon_skip_291530 | 17 | 49075804:49075978:49076836:49076848:49077021:49077078 | 49076836:49076848 | ENSG00000008294.16 | ENST00000505279.1 |
| exon_skip_291532 | 17 | 49084629:49084687:49085197:49085212:49086491:49086503 | 49085197:49085212 | ENSG00000008294.16 | ENST00000511795.1 |
| exon_skip_291535 | 17 | 49084629:49084687:49091592:49091714:49097519:49097619 | 49091592:49091714 | ENSG00000008294.16 | ENST00000262013.7,ENST00000510283.1,ENST00000505279.1,ENST00000357122.4,ENST00000514613.1,ENST00000505173.1,ENST00000576492.1 |
| exon_skip_291537 | 17 | 49085197:49085212:49086491:49086503:49091592:49091714 | 49086491:49086503 | ENSG00000008294.16 | ENST00000511795.1 |
| exon_skip_291539 | 17 | 49098612:49098726:49109041:49109083:49118861:49119012 | 49109041:49109083 | ENSG00000008294.16 | ENST00000262013.7,ENST00000505173.1,ENST00000510855.1 |
| exon_skip_291542 | 17 | 49118861:49119012:49124735:49124830:49133772:49133785 | 49124735:49124830 | ENSG00000008294.16 | ENST00000262013.7,ENST00000505279.1,ENST00000357122.4,ENST00000514613.1,ENST00000505173.1 |
| exon_skip_291545 | 17 | 49124735:49124830:49133772:49133843:49156944:49156983 | 49133772:49133843 | ENSG00000008294.16 | ENST00000262013.7,ENST00000505279.1,ENST00000357122.4,ENST00000514613.1 |
| exon_skip_291547 | 17 | 49133772:49133843:49156944:49157065:49197714:49198095 | 49156944:49157065 | ENSG00000008294.16 | ENST00000505279.1,ENST00000357122.4 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SPAG9 |
| 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 |
| ENST00000262013 | 49057106 | 49057278 | Frame-shift |
| ENST00000262013 | 49062283 | 49062351 | Frame-shift |
| ENST00000262013 | 49067037 | 49067233 | Frame-shift |
| ENST00000262013 | 49073925 | 49074055 | Frame-shift |
| ENST00000262013 | 49079075 | 49079206 | Frame-shift |
| ENST00000262013 | 49091592 | 49091714 | Frame-shift |
| ENST00000262013 | 49124735 | 49124830 | Frame-shift |
| ENST00000262013 | 49133772 | 49133843 | Frame-shift |
| ENST00000262013 | 49048067 | 49048217 | In-frame |
| ENST00000262013 | 49052131 | 49052308 | In-frame |
| ENST00000262013 | 49054468 | 49054582 | In-frame |
| ENST00000262013 | 49075804 | 49075978 | In-frame |
| ENST00000262013 | 49109041 | 49109083 | 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 |
| ENST00000262013 | 49057106 | 49057278 | Frame-shift |
| ENST00000262013 | 49062283 | 49062351 | Frame-shift |
| ENST00000262013 | 49067037 | 49067233 | Frame-shift |
| ENST00000262013 | 49073925 | 49074055 | Frame-shift |
| ENST00000262013 | 49091592 | 49091714 | Frame-shift |
| ENST00000262013 | 49124735 | 49124830 | Frame-shift |
| ENST00000262013 | 49133772 | 49133843 | Frame-shift |
| ENST00000262013 | 49048067 | 49048217 | In-frame |
| ENST00000262013 | 49052131 | 49052308 | In-frame |
| ENST00000262013 | 49054468 | 49054582 | In-frame |
| ENST00000262013 | 49075804 | 49075978 | In-frame |
| ENST00000262013 | 49109041 | 49109083 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SPAG9 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000262013 | 8290 | 1321 | 49109041 | 49109083 | 951 | 992 | 247 | 261 |
| ENST00000262013 | 8290 | 1321 | 49075804 | 49075978 | 1874 | 2047 | 555 | 612 |
| ENST00000262013 | 8290 | 1321 | 49054468 | 49054582 | 3619 | 3732 | 1136 | 1174 |
| ENST00000262013 | 8290 | 1321 | 49052131 | 49052308 | 3733 | 3909 | 1174 | 1233 |
| ENST00000262013 | 8290 | 1321 | 49048067 | 49048217 | 3910 | 4059 | 1233 | 1283 |
| 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 |
| ENST00000262013 | 8290 | 1321 | 49109041 | 49109083 | 951 | 992 | 247 | 261 |
| ENST00000262013 | 8290 | 1321 | 49075804 | 49075978 | 1874 | 2047 | 555 | 612 |
| ENST00000262013 | 8290 | 1321 | 49054468 | 49054582 | 3619 | 3732 | 1136 | 1174 |
| ENST00000262013 | 8290 | 1321 | 49052131 | 49052308 | 3733 | 3909 | 1174 | 1233 |
| ENST00000262013 | 8290 | 1321 | 49048067 | 49048217 | 3910 | 4059 | 1233 | 1283 |
| 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 |
Top |
SNVs in the skipped exons for SPAG9 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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_291503 | 49052132 | 49052308 | 49052208 | 49052208 | Frame_Shift_Del | G | - | p.P1208fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_291520 | 49057107 | 49057278 | 49057218 | 49057218 | Frame_Shift_Del | C | - | p.D1100fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_291527 | 49073926 | 49074055 | 49073956 | 49073956 | Frame_Shift_Del | A | - | p.F646fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_291527 | 49073926 | 49074055 | 49073995 | 49073995 | Frame_Shift_Del | T | - | p.K633fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_291535 | 49091593 | 49091714 | 49091681 | 49091681 | Frame_Shift_Del | A | - | p.F375fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_291547 | 49156945 | 49157065 | 49156959 | 49156959 | Frame_Shift_Del | T | - | p.N137fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_291547 | 49156945 | 49157065 | 49157025 | 49157025 | Frame_Shift_Del | T | - | p.K115fs |
| STAD | TCGA-F1-6177-01 | exon_skip_291520 | 49057107 | 49057278 | 49057239 | 49057239 | Nonsense_Mutation | G | A | p.R1093* |
| STAD | TCGA-F1-6177-01 | exon_skip_291520 | 49057107 | 49057278 | 49057239 | 49057239 | Nonsense_Mutation | G | A | p.R1093X |
| BLCA | TCGA-DK-AA6L-01 | exon_skip_291526 | 49067038 | 49067233 | 49067228 | 49067228 | Nonsense_Mutation | C | A | p.E875* |
| READ | TCGA-AG-A002-01 | exon_skip_291531 | 49079076 | 49079206 | 49079095 | 49079095 | Nonsense_Mutation | G | A | p.R516X |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_291531 | 49079076 | 49079206 | 49079095 | 49079095 | Nonsense_Mutation | G | A | p.R530* |
| ESCA | TCGA-IG-A3QL-01 | exon_skip_291535 | 49091593 | 49091714 | 49091695 | 49091695 | Nonsense_Mutation | C | A | p.E371* |
| ESCA | TCGA-IG-A3QL-01 | exon_skip_291535 | 49091593 | 49091714 | 49091695 | 49091695 | Nonsense_Mutation | C | A | p.E371X |
| LUAD | TCGA-50-5941-01 | exon_skip_291547 | 49156945 | 49157065 | 49156969 | 49156969 | Nonsense_Mutation | T | A | p.K134* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_291520 | 49057107 | 49057278 | 49057279 | 49057279 | Splice_Site | C | A | e26-1 |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 49052132 | 49052308 | 49052289 | 49052291 | In_Frame_Del | TAC | - | p.V1181del |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 49052132 | 49052308 | 49052292 | 49052293 | In_Frame_Ins | - | GTC | p.1180_1181insT |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49048068 | 49048217 | 49048160 | 49048160 | Missense_Mutation | G | A | p.A1253V |
| COLO792_SKIN | 49052132 | 49052308 | 49052174 | 49052174 | Missense_Mutation | G | A | p.H1220Y |
| COLO792_SKIN | 49052132 | 49052308 | 49052174 | 49052175 | Missense_Mutation | GG | AA | p.H1220Y |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49052132 | 49052308 | 49052192 | 49052192 | Missense_Mutation | G | A | p.H1214Y |
| CORL47_LUNG | 49052132 | 49052308 | 49052197 | 49052197 | Missense_Mutation | A | G | p.M1212T |
| NCIH1339_LUNG | 49054469 | 49054582 | 49054498 | 49054498 | Missense_Mutation | C | T | p.G1165D |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49054469 | 49054582 | 49054511 | 49054511 | Missense_Mutation | C | T | p.G1161R |
| A549_LUNG | 49054469 | 49054582 | 49054514 | 49054514 | Missense_Mutation | C | A | p.V1160L |
| JHU028_LUNG | 49054469 | 49054582 | 49054514 | 49054514 | Missense_Mutation | C | A | p.V1160L |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49054469 | 49054582 | 49054523 | 49054523 | Missense_Mutation | G | A | p.R1157C |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49057107 | 49057278 | 49057118 | 49057118 | Missense_Mutation | C | T | p.S1133N |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49057107 | 49057278 | 49057179 | 49057179 | Missense_Mutation | G | A | p.R1113C |
| HEC6_ENDOMETRIUM | 49067038 | 49067188 | 49067092 | 49067092 | Missense_Mutation | G | C | p.T920R |
| HEC6_ENDOMETRIUM | 49067038 | 49067233 | 49067092 | 49067092 | Missense_Mutation | G | C | p.T920R |
| LAN2_AUTONOMIC_GANGLIA | 49067038 | 49067188 | 49067114 | 49067114 | Missense_Mutation | C | T | p.V913I |
| LAN2_AUTONOMIC_GANGLIA | 49067038 | 49067233 | 49067114 | 49067114 | Missense_Mutation | C | T | p.V913I |
| NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49073926 | 49074055 | 49073946 | 49073946 | Missense_Mutation | G | T | p.L650M |
| ECC12_STOMACH | 49073926 | 49074055 | 49073956 | 49073956 | Missense_Mutation | A | C | p.F646L |
| SNU175_LARGE_INTESTINE | 49073926 | 49074055 | 49074033 | 49074033 | Missense_Mutation | G | A | p.R621C |
| KYSE140_OESOPHAGUS | 49075805 | 49075978 | 49075884 | 49075884 | Missense_Mutation | G | A | p.P587S |
| HCT116_LARGE_INTESTINE | 49079076 | 49079206 | 49079106 | 49079106 | Missense_Mutation | T | C | p.Q526R |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49079076 | 49079206 | 49079191 | 49079191 | Missense_Mutation | C | A | p.A498S |
| HEC251_ENDOMETRIUM | 49091593 | 49091714 | 49091620 | 49091620 | Missense_Mutation | C | A | p.D396Y |
| DU145_PROSTATE | 49067038 | 49067188 | 49067105 | 49067105 | Nonsense_Mutation | C | A | p.E916* |
| DU145_PROSTATE | 49067038 | 49067233 | 49067105 | 49067105 | Nonsense_Mutation | C | A | p.E916* |
| OC316_OVARY | 49075805 | 49075978 | 49075971 | 49075971 | Nonsense_Mutation | G | A | p.R558* |
| OC314_OVARY | 49075805 | 49075978 | 49075971 | 49075971 | Nonsense_Mutation | G | A | p.R558* |
| HEC251_ENDOMETRIUM | 49079076 | 49079206 | 49079095 | 49079095 | Nonsense_Mutation | G | A | p.R530* |
| WM2664_SKIN | 49079076 | 49079206 | 49079143 | 49079143 | Nonsense_Mutation | C | A | p.E514* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 49133773 | 49133843 | 49133842 | 49133842 | Splice_Site | A | G | p.I142I |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPAG9 |
| 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 |
| exon_skip_291501 | 17 | 49043660:49043748:49048067:49048217:49052131:49052308 | 49048067:49048217 | ENST00000506500.1,ENST00000505279.1,ENST00000357122.4,ENST00000262013.7,ENST00000510283.1 | LUSC | rs11656955 | chr17:49048064 | C/T | 1.22e-03 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPAG9 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPAG9 |
Top |
RelatedDrugs for SPAG9 |
| 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 |
Top |
RelatedDiseases for SPAG9 |
| 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)
|