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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 SPATA17 |
 Gene summary |
| Gene information | Gene symbol | SPATA17 | Gene ID | 128153 |
| Gene name | spermatogenesis associated 17 | |
| Synonyms | IQCH|MSRG-11|MSRG11 | |
| Cytomap | 1q41 | |
| Type of gene | protein-coding | |
| Description | spermatogenesis-associated protein 17IQ motif containing Hspermatogenesis-related protein 11 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96L03 | |
| Context | PubMed: SPATA17 [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 SPATA17 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 SPATA17 |
| 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 SPATA17 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_18010 | 1 | 217804665:217804788:217822223:217822313:217824438:217824520 | 217822223:217822313 | ENSG00000162814.6 | ENST00000366933.4 |
| exon_skip_18012 | 1 | 217824438:217824520:217842374:217842425:217856599:217856703 | 217842374:217842425 | ENSG00000162814.6 | ENST00000366933.4 |
| exon_skip_18014 | 1 | 217856599:217856703:217915316:217915440:217947675:217947766 | 217915316:217915440 | ENSG00000162814.6 | ENST00000366933.4 |
| exon_skip_18015 | 1 | 217856599:217856703:217915320:217915440:217947675:217947766 | 217915320:217915440 | ENSG00000162814.6 | ENST00000470448.1 |
| exon_skip_18018 | 1 | 217915320:217915440:217947675:217947879:217955515:217955650 | 217947675:217947879 | ENSG00000162814.6 | ENST00000492747.2,ENST00000366933.4 |
| exon_skip_18019 | 1 | 217975059:217975192:218036115:218036198:218040219:218040930 | 218036115:218036198 | ENSG00000162814.6 | ENST00000471021.1 |
| exon_skip_18022 | 1 | 218036116:218036198:218039819:218039945:218040363:218040475 | 218039819:218039945 | ENSG00000162814.6 | ENST00000491809.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SPATA17 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_18010 | 1 | 217804665:217804788:217822223:217822313:217824438:217824520 | 217822223:217822313 | ENSG00000162814.6 | ENST00000366933.4 |
| exon_skip_18011 | 1 | 217824438:217824520:217838620:217838806:217842374:217842425 | 217838620:217838806 | ENSG00000162814.6 | ENST00000470448.1 |
| exon_skip_18012 | 1 | 217824438:217824520:217842374:217842425:217856599:217856703 | 217842374:217842425 | ENSG00000162814.6 | ENST00000366933.4 |
| exon_skip_18018 | 1 | 217915320:217915440:217947675:217947879:217955515:217955650 | 217947675:217947879 | ENSG00000162814.6 | ENST00000366933.4,ENST00000492747.2 |
| exon_skip_18019 | 1 | 217975059:217975192:218036115:218036198:218040219:218040930 | 218036115:218036198 | ENSG00000162814.6 | ENST00000471021.1 |
| exon_skip_18022 | 1 | 218036116:218036198:218039819:218039945:218040363:218040475 | 218039819:218039945 | ENSG00000162814.6 | ENST00000491809.1 |
| 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 SPATA17 |
| 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 |
| ENST00000366933 | 217915316 | 217915440 | Frame-shift |
| ENST00000366933 | 217822223 | 217822313 | In-frame |
| ENST00000366933 | 217842374 | 217842425 | In-frame |
| ENST00000366933 | 217947675 | 217947879 | 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 |
| ENST00000366933 | 217822223 | 217822313 | In-frame |
| ENST00000366933 | 217842374 | 217842425 | In-frame |
| ENST00000366933 | 217947675 | 217947879 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SPATA17 |
| 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 |
| ENST00000366933 | 5835 | 361 | 217822223 | 217822313 | 124 | 213 | 23 | 52 |
| ENST00000366933 | 5835 | 361 | 217842374 | 217842425 | 296 | 346 | 80 | 97 |
| ENST00000366933 | 5835 | 361 | 217947675 | 217947879 | 575 | 778 | 173 | 241 |
| 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 |
| ENST00000366933 | 5835 | 361 | 217822223 | 217822313 | 124 | 213 | 23 | 52 |
| ENST00000366933 | 5835 | 361 | 217842374 | 217842425 | 296 | 346 | 80 | 97 |
| ENST00000366933 | 5835 | 361 | 217947675 | 217947879 | 575 | 778 | 173 | 241 |
| 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 |
| Q96L03 | 23 | 52 | 1 | 361 | Chain | ID=PRO_0000265933;Note=Spermatogenesis-associated protein 17 |
| Q96L03 | 23 | 52 | 32 | 61 | Domain | Note=IQ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q96L03 | 80 | 97 | 1 | 361 | Chain | ID=PRO_0000265933;Note=Spermatogenesis-associated protein 17 |
| Q96L03 | 80 | 97 | 55 | 84 | Domain | Note=IQ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q96L03 | 80 | 97 | 91 | 120 | Domain | Note=IQ 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q96L03 | 173 | 241 | 1 | 361 | Chain | ID=PRO_0000265933;Note=Spermatogenesis-associated protein 17 |
| 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 |
| Q96L03 | 23 | 52 | 1 | 361 | Chain | ID=PRO_0000265933;Note=Spermatogenesis-associated protein 17 |
| Q96L03 | 23 | 52 | 32 | 61 | Domain | Note=IQ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q96L03 | 80 | 97 | 1 | 361 | Chain | ID=PRO_0000265933;Note=Spermatogenesis-associated protein 17 |
| Q96L03 | 80 | 97 | 55 | 84 | Domain | Note=IQ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q96L03 | 80 | 97 | 91 | 120 | Domain | Note=IQ 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q96L03 | 173 | 241 | 1 | 361 | Chain | ID=PRO_0000265933;Note=Spermatogenesis-associated protein 17 |
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SNVs in the skipped exons for SPATA17 |
| - 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_18010 | 217822224 | 217822313 | 217822242 | 217822242 | Frame_Shift_Del | A | - | p.R29fs |
| LUAD | TCGA-44-3918-01 | exon_skip_18018 | 217947676 | 217947879 | 217947839 | 217947839 | Frame_Shift_Del | G | - | p.R228fs |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_18010 | 217822224 | 217822313 | 217822288 | 217822288 | Nonsense_Mutation | G | T | p.G45* |
| LUAD | TCGA-55-8621-01 | exon_skip_18014 exon_skip_18015 | 217915317 | 217915440 | 217915384 | 217915384 | Nonsense_Mutation | G | T | p.E155* |
| LUAD | TCGA-55-8621-01 | exon_skip_18014 exon_skip_18015 | 217915321 | 217915440 | 217915384 | 217915384 | Nonsense_Mutation | G | T | p.E155* |
| SKCM | TCGA-EE-A3JB-06 | exon_skip_18014 exon_skip_18015 | 217915317 | 217915440 | 217915408 | 217915408 | Nonsense_Mutation | C | T | p.R163* |
| SKCM | TCGA-EE-A3JB-06 | exon_skip_18014 exon_skip_18015 | 217915317 | 217915440 | 217915408 | 217915408 | Nonsense_Mutation | C | T | p.R163X |
| SKCM | TCGA-EE-A3JB-06 | exon_skip_18014 exon_skip_18015 | 217915321 | 217915440 | 217915408 | 217915408 | Nonsense_Mutation | C | T | p.R163* |
| SKCM | TCGA-EE-A3JB-06 | exon_skip_18014 exon_skip_18015 | 217915321 | 217915440 | 217915408 | 217915408 | Nonsense_Mutation | C | T | p.R163X |
| STAD | TCGA-BR-8680-01 | exon_skip_18018 | 217947676 | 217947879 | 217947760 | 217947760 | Nonsense_Mutation | C | T | p.R202* |
| STAD | TCGA-BR-8680-01 | exon_skip_18018 | 217947676 | 217947879 | 217947760 | 217947760 | Nonsense_Mutation | C | T | p.R202X |
| BLCA | TCGA-ZF-AA51-01 | exon_skip_18019 | 218036116 | 218036198 | 218036153 | 218036153 | Nonsense_Mutation | C | G | p.S348* |
| LUAD | TCGA-55-7907-01 | exon_skip_18010 | 217822224 | 217822313 | 217822223 | 217822223 | Splice_Site | G | C | p.S23_splice |
| LUSC | TCGA-43-5668-01 | exon_skip_18012 | 217842375 | 217842425 | 217842374 | 217842374 | Splice_Site | G | C | p.V81_splice |
| STAD | TCGA-BR-8059-01 | exon_skip_18019 | 218036116 | 218036198 | 218036114 | 218036114 | Splice_Site | A | G | . |
| STAD | TCGA-BR-8059-01 | exon_skip_18019 | 218036116 | 218036198 | 218036114 | 218036114 | Splice_Site | A | G | p.D336_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 |
| NCIH1385_LUNG | 218036116 | 218036198 | 218036161 | 218036161 | Frame_Shift_Del | G | - | p.G351fs |
| TTC442_SOFT_TISSUE | 217822224 | 217822313 | 217822235 | 217822235 | Missense_Mutation | C | T | p.P27L |
| JHUEM2_ENDOMETRIUM | 217822224 | 217822313 | 217822242 | 217822242 | Missense_Mutation | A | T | p.R29S |
| QIMRWIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 217822224 | 217822313 | 217822258 | 217822258 | Missense_Mutation | G | A | p.A35T |
| SNUC5_LARGE_INTESTINE | 217822224 | 217822313 | 217822261 | 217822261 | Missense_Mutation | G | A | p.A36T |
| NCIH1915_LUNG | 217822224 | 217822313 | 217822277 | 217822277 | Missense_Mutation | G | C | p.S41T |
| PANC0403_PANCREAS | 217822224 | 217822313 | 217822289 | 217822289 | Missense_Mutation | G | T | p.G45V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 217842375 | 217842425 | 217842394 | 217842394 | Missense_Mutation | T | A | p.M87K |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 217842375 | 217842425 | 217842394 | 217842394 | Missense_Mutation | T | A | p.M87K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 217842375 | 217842425 | 217842412 | 217842412 | Missense_Mutation | C | A | p.A93E |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 217842375 | 217842425 | 217842412 | 217842412 | Missense_Mutation | C | A | p.A93E |
| JHH6_LIVER | 217915317 | 217915440 | 217915366 | 217915366 | Missense_Mutation | G | C | p.A149P |
| JHH6_LIVER | 217915321 | 217915440 | 217915366 | 217915366 | Missense_Mutation | G | C | p.A149P |
| HT115_LARGE_INTESTINE | 217915317 | 217915440 | 217915394 | 217915394 | Missense_Mutation | G | A | p.R158K |
| HT115_LARGE_INTESTINE | 217915321 | 217915440 | 217915394 | 217915394 | Missense_Mutation | G | A | p.R158K |
| NCIH196_LUNG | 217947676 | 217947879 | 217947712 | 217947712 | Missense_Mutation | C | T | p.P186S |
| HCT15_LARGE_INTESTINE | 217947676 | 217947879 | 217947767 | 217947767 | Missense_Mutation | C | A | p.P204H |
| HCC515_LUNG | 217947676 | 217947879 | 217947779 | 217947779 | Missense_Mutation | A | C | p.Q208P |
| SNU1196_BILIARY_TRACT | 217947676 | 217947879 | 217947784 | 217947784 | Missense_Mutation | G | A | p.D210N |
| HCC1833_LUNG | 217947676 | 217947879 | 217947802 | 217947802 | Missense_Mutation | G | T | p.D216Y |
| NCIH2029_LUNG | 217947676 | 217947879 | 217947811 | 217947811 | Missense_Mutation | G | T | p.A219S |
| SNU1040_LARGE_INTESTINE | 217947676 | 217947879 | 217947817 | 217947817 | Missense_Mutation | A | G | p.T221A |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 217947676 | 217947879 | 217947826 | 217947826 | Missense_Mutation | C | T | p.R224C |
| IMR5_AUTONOMIC_GANGLIA | 217947676 | 217947879 | 217947838 | 217947838 | Missense_Mutation | C | T | p.R228W |
| C4I_CERVIX | 217947676 | 217947879 | 217947844 | 217947844 | Missense_Mutation | G | C | p.E230Q |
| SW620_LARGE_INTESTINE | 217947676 | 217947879 | 217947870 | 217947870 | Missense_Mutation | G | T | p.K238N |
| SNU81_LARGE_INTESTINE | 217822224 | 217822313 | 217822285 | 217822285 | Nonsense_Mutation | C | T | p.R44* |
| SJSA1_BONE | 217822224 | 217822313 | 217822225 | 217822225 | Splice_Site | G | A | p.V24I |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 217842375 | 217842425 | 217842376 | 217842376 | Splice_Site | T | C | p.V81A |
| HCC2450_LUNG | 218036116 | 218036198 | 218036116 | 218036116 | Splice_Site | G | T | p.D336Y |
| LNCAPCLONEFGC_PROSTATE | 218036116 | 218036198 | 218036116 | 218036116 | Splice_Site | G | T | p.D336Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPATA17 |
| 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 SPATA17 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPATA17 |
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RelatedDrugs for SPATA17 |
| 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 SPATA17 |
| 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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