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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 SPEF2 |
 Gene summary |
| Gene information | Gene symbol | SPEF2 | Gene ID | 79925 |
| Gene name | sperm flagellar 2 | |
| Synonyms | CT122|KPL2 | |
| Cytomap | 5p13.2 | |
| Type of gene | protein-coding | |
| Description | sperm flagellar protein 2cancer/testis antigen 122testis tissue sperm-binding protein Li 47a | |
| Modification date | 20180519 | |
| UniProtAcc | Q9C093 | |
| Context | PubMed: SPEF2 [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 SPEF2 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 SPEF2 |
| 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 SPEF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_434380 | 5 | 35618099:35618157:35628561:35628664:35641532:35641785 | 35628561:35628664 | ENSG00000152582.8 | ENST00000505847.1,ENST00000509059.1,ENST00000505088.1,ENST00000510777.1,ENST00000440995.2,ENST00000356031.3 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENSG00000152582.8 | ENST00000509059.1,ENST00000282469.6,ENST00000440995.2,ENST00000356031.3 |
| exon_skip_434385 | 5 | 35641532:35641785:35646768:35646909:35649462:35649527 | 35646768:35646909 | ENSG00000152582.8 | ENST00000510777.1 |
| exon_skip_434387 | 5 | 35659151:35659309:35667173:35667361:35670160:35670329 | 35667173:35667361 | ENSG00000152582.8 | ENST00000509059.1,ENST00000282469.6,ENST00000503074.1,ENST00000440995.2,ENST00000356031.3 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENSG00000152582.8 | ENST00000508817.1 |
| exon_skip_434393 | 5 | 35704655:35704764:35705752:35705910:35709049:35709223 | 35705752:35705910 | ENSG00000152582.8 | ENST00000509059.1,ENST00000503074.1,ENST00000440995.2,ENST00000356031.3 |
| exon_skip_434396 | 5 | 35709049:35709223:35712913:35712988:35727776:35727925 | 35712913:35712988 | ENSG00000152582.8 | ENST00000440995.2,ENST00000356031.3 |
| exon_skip_434397 | 5 | 35727776:35727925:35740020:35740148:35740230:35740369 | 35740020:35740148 | ENSG00000152582.8 | ENST00000440995.2,ENST00000356031.3 |
| exon_skip_434398 | 5 | 35753725:35753863:35759669:35759821:35763623:35763804 | 35759669:35759821 | ENSG00000152582.8 | ENST00000440995.2,ENST00000356031.3 |
| exon_skip_434399 | 5 | 35759669:35759821:35763623:35763804:35771710:35771858 | 35763623:35763804 | ENSG00000152582.8 | ENST00000440995.2,ENST00000356031.3 |
| exon_skip_434400 | 5 | 35771710:35771858:35773994:35774123:35776358:35776497 | 35773994:35774123 | ENSG00000152582.8 | ENST00000440995.2,ENST00000356031.3 |
| exon_skip_434401 | 5 | 35795804:35795897:35800069:35800249:35806808:35807054 | 35800069:35800249 | ENSG00000152582.8 | ENST00000303129.4,ENST00000506526.1,ENST00000513078.1,ENST00000440995.2,ENST00000356031.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SPEF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_434380 | 5 | 35618099:35618157:35628561:35628664:35641532:35641785 | 35628561:35628664 | ENSG00000152582.8 | ENST00000509059.1,ENST00000356031.3,ENST00000505847.1,ENST00000505088.1,ENST00000510777.1,ENST00000440995.2 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENSG00000152582.8 | ENST00000282469.6,ENST00000509059.1,ENST00000356031.3,ENST00000440995.2 |
| exon_skip_434385 | 5 | 35641532:35641785:35646768:35646909:35649462:35649527 | 35646768:35646909 | ENSG00000152582.8 | ENST00000510777.1 |
| exon_skip_434387 | 5 | 35659151:35659309:35667173:35667361:35670160:35670329 | 35667173:35667361 | ENSG00000152582.8 | ENST00000282469.6,ENST00000509059.1,ENST00000356031.3,ENST00000440995.2,ENST00000503074.1 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENSG00000152582.8 | ENST00000508817.1 |
| exon_skip_434393 | 5 | 35704655:35704764:35705752:35705910:35709049:35709223 | 35705752:35705910 | ENSG00000152582.8 | ENST00000509059.1,ENST00000356031.3,ENST00000440995.2,ENST00000503074.1 |
| exon_skip_434396 | 5 | 35709049:35709223:35712913:35712988:35727776:35727925 | 35712913:35712988 | ENSG00000152582.8 | ENST00000356031.3,ENST00000440995.2 |
| exon_skip_434397 | 5 | 35727776:35727925:35740020:35740148:35740230:35740369 | 35740020:35740148 | ENSG00000152582.8 | ENST00000356031.3,ENST00000440995.2 |
| exon_skip_434398 | 5 | 35753725:35753863:35759669:35759821:35763623:35763804 | 35759669:35759821 | ENSG00000152582.8 | ENST00000356031.3,ENST00000440995.2 |
| exon_skip_434399 | 5 | 35759669:35759821:35763623:35763804:35771710:35771858 | 35763623:35763804 | ENSG00000152582.8 | ENST00000356031.3,ENST00000440995.2 |
| exon_skip_434400 | 5 | 35771710:35771858:35773994:35774123:35776358:35776497 | 35773994:35774123 | ENSG00000152582.8 | ENST00000356031.3,ENST00000440995.2 |
| exon_skip_434401 | 5 | 35795804:35795897:35800069:35800249:35806808:35807054 | 35800069:35800249 | ENSG00000152582.8 | ENST00000356031.3,ENST00000440995.2,ENST00000506526.1,ENST00000513078.1,ENST00000303129.4 |
| 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 SPEF2 |
| 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 |
| ENST00000356031 | 35628561 | 35628664 | Frame-shift |
| ENST00000356031 | 35667173 | 35667361 | Frame-shift |
| ENST00000356031 | 35705752 | 35705910 | Frame-shift |
| ENST00000356031 | 35740020 | 35740148 | Frame-shift |
| ENST00000356031 | 35759669 | 35759821 | Frame-shift |
| ENST00000356031 | 35763623 | 35763804 | Frame-shift |
| ENST00000356031 | 35644456 | 35644627 | In-frame |
| ENST00000356031 | 35712913 | 35712988 | In-frame |
| ENST00000356031 | 35773994 | 35774123 | In-frame |
| ENST00000356031 | 35800069 | 35800249 | 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 |
| ENST00000356031 | 35628561 | 35628664 | Frame-shift |
| ENST00000356031 | 35667173 | 35667361 | Frame-shift |
| ENST00000356031 | 35705752 | 35705910 | Frame-shift |
| ENST00000356031 | 35740020 | 35740148 | Frame-shift |
| ENST00000356031 | 35759669 | 35759821 | Frame-shift |
| ENST00000356031 | 35763623 | 35763804 | Frame-shift |
| ENST00000356031 | 35644456 | 35644627 | In-frame |
| ENST00000356031 | 35712913 | 35712988 | In-frame |
| ENST00000356031 | 35773994 | 35774123 | In-frame |
| ENST00000356031 | 35800069 | 35800249 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SPEF2 |
| 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 |
| ENST00000356031 | 5698 | 1822 | 35644456 | 35644627 | 569 | 739 | 138 | 195 |
| ENST00000356031 | 5698 | 1822 | 35712913 | 35712988 | 2994 | 3068 | 946 | 971 |
| ENST00000356031 | 5698 | 1822 | 35773994 | 35774123 | 4104 | 4232 | 1316 | 1359 |
| ENST00000356031 | 5698 | 1822 | 35800069 | 35800249 | 4985 | 5164 | 1610 | 1670 |
| 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 |
| ENST00000356031 | 5698 | 1822 | 35644456 | 35644627 | 569 | 739 | 138 | 195 |
| ENST00000356031 | 5698 | 1822 | 35712913 | 35712988 | 2994 | 3068 | 946 | 971 |
| ENST00000356031 | 5698 | 1822 | 35773994 | 35774123 | 4104 | 4232 | 1316 | 1359 |
| ENST00000356031 | 5698 | 1822 | 35800069 | 35800249 | 4985 | 5164 | 1610 | 1670 |
| 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 |
| Q9C093 | 138 | 195 | 1 | 1483 | Alternative sequence | ID=VSP_027521;Note=In isoform 4. MSEILCQWLNKELKVSRTVSPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLNNFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFNLMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPAS |
| Q9C093 | 138 | 195 | 1 | 1822 | Chain | ID=PRO_0000299029;Note=Sperm flagellar protein 2 |
| Q9C093 | 946 | 971 | 1 | 1483 | Alternative sequence | ID=VSP_027521;Note=In isoform 4. MSEILCQWLNKELKVSRTVSPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLNNFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFNLMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPAS |
| Q9C093 | 946 | 971 | 515 | 1822 | Alternative sequence | ID=VSP_027523;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9C093 | 946 | 971 | 1 | 1822 | Chain | ID=PRO_0000299029;Note=Sperm flagellar protein 2 |
| Q9C093 | 1316 | 1359 | 1 | 1483 | Alternative sequence | ID=VSP_027521;Note=In isoform 4. MSEILCQWLNKELKVSRTVSPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLNNFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFNLMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPAS |
| Q9C093 | 1316 | 1359 | 515 | 1822 | Alternative sequence | ID=VSP_027523;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9C093 | 1316 | 1359 | 1 | 1822 | Chain | ID=PRO_0000299029;Note=Sperm flagellar protein 2 |
| Q9C093 | 1316 | 1359 | 1324 | 1676 | Region | Note=Interaction with IFT20;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19889948;Dbxref=PMID:19889948 |
| Q9C093 | 1610 | 1670 | 515 | 1822 | Alternative sequence | ID=VSP_027523;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9C093 | 1610 | 1670 | 1 | 1822 | Chain | ID=PRO_0000299029;Note=Sperm flagellar protein 2 |
| Q9C093 | 1610 | 1670 | 1324 | 1676 | Region | Note=Interaction with IFT20;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19889948;Dbxref=PMID:19889948 |
| 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 |
| Q9C093 | 138 | 195 | 1 | 1483 | Alternative sequence | ID=VSP_027521;Note=In isoform 4. MSEILCQWLNKELKVSRTVSPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLNNFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFNLMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPAS |
| Q9C093 | 138 | 195 | 1 | 1822 | Chain | ID=PRO_0000299029;Note=Sperm flagellar protein 2 |
| Q9C093 | 946 | 971 | 1 | 1483 | Alternative sequence | ID=VSP_027521;Note=In isoform 4. MSEILCQWLNKELKVSRTVSPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLNNFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFNLMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPAS |
| Q9C093 | 946 | 971 | 515 | 1822 | Alternative sequence | ID=VSP_027523;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9C093 | 946 | 971 | 1 | 1822 | Chain | ID=PRO_0000299029;Note=Sperm flagellar protein 2 |
| Q9C093 | 1316 | 1359 | 1 | 1483 | Alternative sequence | ID=VSP_027521;Note=In isoform 4. MSEILCQWLNKELKVSRTVSPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLNNFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFNLMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPAS |
| Q9C093 | 1316 | 1359 | 515 | 1822 | Alternative sequence | ID=VSP_027523;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9C093 | 1316 | 1359 | 1 | 1822 | Chain | ID=PRO_0000299029;Note=Sperm flagellar protein 2 |
| Q9C093 | 1316 | 1359 | 1324 | 1676 | Region | Note=Interaction with IFT20;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19889948;Dbxref=PMID:19889948 |
| Q9C093 | 1610 | 1670 | 515 | 1822 | Alternative sequence | ID=VSP_027523;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9C093 | 1610 | 1670 | 1 | 1822 | Chain | ID=PRO_0000299029;Note=Sperm flagellar protein 2 |
| Q9C093 | 1610 | 1670 | 1324 | 1676 | Region | Note=Interaction with IFT20;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19889948;Dbxref=PMID:19889948 |
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SNVs in the skipped exons for SPEF2 |
| - 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_434380 | 35628562 | 35628664 | 35628621 | 35628621 | Frame_Shift_Del | A | - | p.K40fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_434382 | 35644457 | 35644627 | 35644489 | 35644489 | Frame_Shift_Del | T | - | p.D149fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434387 | 35667174 | 35667361 | 35667274 | 35667274 | Frame_Shift_Del | A | - | p.E423fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_434393 | 35705753 | 35705910 | 35705894 | 35705895 | Frame_Shift_Del | AA | - | p.883_883del |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_434393 | 35705753 | 35705910 | 35705894 | 35705895 | Frame_Shift_Del | AA | - | p.K886fs |
| ESCA | TCGA-VR-A8EY-01 | exon_skip_434393 | 35705753 | 35705910 | 35705894 | 35705894 | Frame_Shift_Del | A | - | p.A878fs |
| ESCA | TCGA-VR-A8EY-01 | exon_skip_434393 | 35705753 | 35705910 | 35705894 | 35705894 | Frame_Shift_Del | A | - | p.K886fs |
| LGG | TCGA-S9-A6WN-01 | exon_skip_434393 | 35705753 | 35705910 | 35705894 | 35705894 | Frame_Shift_Del | A | - | p.A878fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_434393 | 35705753 | 35705910 | 35705894 | 35705894 | Frame_Shift_Del | A | - | p.A878fs |
| UCEC | TCGA-BS-A0U7-01 | exon_skip_434393 | 35705753 | 35705910 | 35705894 | 35705894 | Frame_Shift_Del | A | - | p.A883fs |
| UCEC | TCGA-D1-A177-01 | exon_skip_434393 | 35705753 | 35705910 | 35705894 | 35705894 | Frame_Shift_Del | A | - | p.A883fs |
| COAD | TCGA-AZ-4315-01 | exon_skip_434397 | 35740021 | 35740148 | 35740074 | 35740074 | Frame_Shift_Del | A | - | p.I1039fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_434399 | 35763624 | 35763804 | 35763678 | 35763678 | Frame_Shift_Del | A | - | p.P1220fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434401 | 35800070 | 35800249 | 35800109 | 35800109 | Frame_Shift_Del | C | - | p.P1619fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_434385 | 35646769 | 35646909 | 35646888 | 35646889 | Frame_Shift_Ins | - | A | p.IK235fs |
| COAD | TCGA-A6-5661-01 | exon_skip_434393 | 35705753 | 35705910 | 35705893 | 35705894 | Frame_Shift_Ins | - | A | p.A883fs |
| COAD | TCGA-AA-3713-01 | exon_skip_434400 | 35773995 | 35774123 | 35774083 | 35774084 | Frame_Shift_Ins | - | A | p.V1346fs |
| LIHC | TCGA-BC-A3KF-01 | exon_skip_434380 | 35628562 | 35628664 | 35628606 | 35628606 | Nonsense_Mutation | G | T | p.G35X |
| LUAD | TCGA-50-5049-01 | exon_skip_434382 | 35644457 | 35644627 | 35644577 | 35644577 | Nonsense_Mutation | G | T | p.E179* |
| STAD | TCGA-HF-7132-01 | exon_skip_434387 | 35667174 | 35667361 | 35667345 | 35667345 | Nonsense_Mutation | C | T | p.R447* |
| STAD | TCGA-HF-7132-01 | exon_skip_434387 | 35667174 | 35667361 | 35667345 | 35667345 | Nonsense_Mutation | C | T | p.R447X |
| COAD | TCGA-AA-3510-01 | exon_skip_434393 | 35705753 | 35705910 | 35705871 | 35705871 | Nonsense_Mutation | G | T | p.E876X |
| COAD | TCGA-AA-3510-01 | exon_skip_434396 | 35712914 | 35712988 | 35712934 | 35712934 | Nonsense_Mutation | G | T | p.E954X |
| SKCM | TCGA-FS-A1ZP-06 | exon_skip_434397 | 35740021 | 35740148 | 35740049 | 35740049 | Nonsense_Mutation | G | A | p.W1026* |
| SKCM | TCGA-EE-A29L-06 | exon_skip_434397 | 35740021 | 35740148 | 35740050 | 35740050 | Nonsense_Mutation | G | A | p.W1026* |
| SKCM | TCGA-EE-A29L-06 | exon_skip_434397 | 35740021 | 35740148 | 35740050 | 35740050 | Nonsense_Mutation | G | A | p.W1031X |
| SKCM | TCGA-FS-A1ZP-06 | exon_skip_434397 | 35740021 | 35740148 | 35740050 | 35740050 | Nonsense_Mutation | G | A | p.W1026* |
| SKCM | TCGA-FS-A1ZP-06 | exon_skip_434397 | 35740021 | 35740148 | 35740050 | 35740050 | Nonsense_Mutation | G | A | p.W1031X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_434397 | 35740021 | 35740148 | 35740060 | 35740060 | Nonsense_Mutation | G | T | p.E1035* |
| HNSC | TCGA-CV-7446-01 | exon_skip_434399 | 35763624 | 35763804 | 35763640 | 35763640 | Nonsense_Mutation | C | T | p.R1208* |
| LUAD | TCGA-64-1679-01 | exon_skip_434401 | 35800070 | 35800249 | 35800100 | 35800100 | Nonsense_Mutation | A | T | p.K1621* |
| LUSC | TCGA-51-4080-01 | exon_skip_434397 | 35740021 | 35740148 | 35740020 | 35740020 | Splice_Site | G | - | p.E1022_splice |
| LUSC | TCGA-66-2763-01 | exon_skip_434397 | 35740021 | 35740148 | 35740020 | 35740020 | Splice_Site | G | T | p.E1022_splice |
| BRCA | TCGA-E2-A14V-01 | exon_skip_434401 | 35800070 | 35800249 | 35800068 | 35800068 | Splice_Site | A | T | e34-2 |
| - 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 |
| CW2_LARGE_INTESTINE | 35759670 | 35759821 | 35759722 | 35759722 | Frame_Shift_Del | G | - | p.W1174fs |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35759670 | 35759821 | 35759736 | 35759736 | Frame_Shift_Del | A | - | p.K1179fs |
| IGROV1_OVARY | 35646769 | 35646909 | 35646877 | 35646878 | Frame_Shift_Ins | - | A | p.Q232fs |
| SKOV3_OVARY | 35646769 | 35646909 | 35646877 | 35646878 | Frame_Shift_Ins | - | A | p.Q232fs |
| RH18_SOFT_TISSUE | 35628562 | 35628664 | 35628615 | 35628615 | Missense_Mutation | C | A | p.L38I |
| EW7_BONE | 35644457 | 35644627 | 35644479 | 35644479 | Missense_Mutation | G | A | p.R146H |
| SNUC4_LARGE_INTESTINE | 35644457 | 35644627 | 35644503 | 35644503 | Missense_Mutation | G | A | p.R154Q |
| LN235_CENTRAL_NERVOUS_SYSTEM | 35644457 | 35644627 | 35644530 | 35644530 | Missense_Mutation | A | G | p.Y163C |
| LNCAPCLONEFGC_PROSTATE | 35644457 | 35644627 | 35644597 | 35644597 | Missense_Mutation | G | T | p.K185N |
| SUIT2_PANCREAS | 35644457 | 35644627 | 35644620 | 35644620 | Missense_Mutation | T | C | p.I193T |
| EN_ENDOMETRIUM | 35644457 | 35644627 | 35644620 | 35644620 | Missense_Mutation | T | C | p.I193T |
| NCIH250_LUNG | 35646769 | 35646909 | 35646823 | 35646823 | Missense_Mutation | A | G | p.I214V |
| SNU81_LARGE_INTESTINE | 35667174 | 35667361 | 35667318 | 35667318 | Missense_Mutation | G | T | p.D438Y |
| C2BBE1_LARGE_INTESTINE | 35667174 | 35667361 | 35667330 | 35667330 | Missense_Mutation | A | G | p.K442E |
| NCIH2141_LUNG | 35705753 | 35705910 | 35705841 | 35705841 | Missense_Mutation | G | C | p.D866H |
| JHUEM7_ENDOMETRIUM | 35705753 | 35705910 | 35705877 | 35705877 | Missense_Mutation | C | A | p.L878I |
| ESO26_OESOPHAGUS | 35705753 | 35705910 | 35705890 | 35705890 | Missense_Mutation | T | A | p.I882K |
| RH28_SOFT_TISSUE | 35705753 | 35705910 | 35705890 | 35705890 | Missense_Mutation | T | A | p.I882K |
| C10_LARGE_INTESTINE | 35705753 | 35705910 | 35705892 | 35705893 | Missense_Mutation | GC | AA | p.A883K |
| CME1_SOFT_TISSUE | 35705753 | 35705910 | 35705892 | 35705893 | Missense_Mutation | GC | AA | p.A883K |
| ESO26_OESOPHAGUS | 35705753 | 35705910 | 35705892 | 35705893 | Missense_Mutation | GC | AA | p.A883K |
| OC316_OVARY | 35705753 | 35705910 | 35705892 | 35705893 | Missense_Mutation | GC | AA | p.A883K |
| RH28_SOFT_TISSUE | 35705753 | 35705910 | 35705892 | 35705893 | Missense_Mutation | GC | AA | p.A883K |
| RH30_SOFT_TISSUE | 35705753 | 35705910 | 35705892 | 35705893 | Missense_Mutation | GC | AA | p.A883K |
| C33A_CERVIX | 35705753 | 35705910 | 35705893 | 35705893 | Missense_Mutation | C | A | p.A883E |
| SCS214_SOFT_TISSUE | 35705753 | 35705910 | 35705893 | 35705893 | Missense_Mutation | C | A | p.A883E |
| HCC2998_LARGE_INTESTINE | 35705753 | 35705910 | 35705902 | 35705902 | Missense_Mutation | A | T | p.K886M |
| UMC11_LUNG | 35712914 | 35712988 | 35712964 | 35712964 | Missense_Mutation | G | A | p.G964S |
| FTC133_THYROID | 35712914 | 35712988 | 35712974 | 35712974 | Missense_Mutation | C | T | p.A967V |
| MCC13_SKIN | 35740021 | 35740148 | 35740043 | 35740043 | Missense_Mutation | C | T | p.P1029L |
| COGAR359_SOFT_TISSUE | 35759670 | 35759821 | 35759683 | 35759683 | Missense_Mutation | G | A | p.R1161H |
| LIM1215_LARGE_INTESTINE | 35759670 | 35759821 | 35759683 | 35759683 | Missense_Mutation | G | A | p.R1161H |
| MCC26_SKIN | 35759670 | 35759821 | 35759742 | 35759742 | Missense_Mutation | C | T | p.P1181S |
| NCIH2172_LUNG | 35759670 | 35759821 | 35759756 | 35759756 | Missense_Mutation | C | G | p.N1185K |
| RXF393_KIDNEY | 35759670 | 35759821 | 35759791 | 35759791 | Missense_Mutation | A | G | p.D1197G |
| KD_SOFT_TISSUE | 35763624 | 35763804 | 35763631 | 35763631 | Missense_Mutation | C | G | p.L1210V |
| Y79_AUTONOMIC_GANGLIA | 35763624 | 35763804 | 35763641 | 35763641 | Missense_Mutation | G | A | p.R1213Q |
| SNU81_LARGE_INTESTINE | 35763624 | 35763804 | 35763653 | 35763653 | Missense_Mutation | C | A | p.S1217Y |
| LN229_CENTRAL_NERVOUS_SYSTEM | 35763624 | 35763804 | 35763710 | 35763710 | Missense_Mutation | A | G | p.D1236G |
| D336MG_CENTRAL_NERVOUS_SYSTEM | 35763624 | 35763804 | 35763727 | 35763727 | Missense_Mutation | G | A | p.V1242I |
| SNU1040_LARGE_INTESTINE | 35763624 | 35763804 | 35763727 | 35763727 | Missense_Mutation | G | A | p.V1242I |
| CW2_LARGE_INTESTINE | 35773995 | 35774123 | 35774003 | 35774003 | Missense_Mutation | C | T | p.P1320S |
| HOP92_LUNG | 35773995 | 35774123 | 35774009 | 35774009 | Missense_Mutation | A | C | p.M1322L |
| PWR1E_PROSTATE | 35773995 | 35774123 | 35774031 | 35774031 | Missense_Mutation | T | C | p.I1329T |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35773995 | 35774123 | 35774062 | 35774062 | Missense_Mutation | A | T | p.K1339N |
| SW156_KIDNEY | 35773995 | 35774123 | 35774090 | 35774090 | Missense_Mutation | A | G | p.K1349E |
| TE10_OESOPHAGUS | 35773995 | 35774123 | 35774102 | 35774102 | Missense_Mutation | C | A | p.L1353I |
| HCT15_LARGE_INTESTINE | 35800070 | 35800249 | 35800089 | 35800089 | Missense_Mutation | C | A | p.A1617D |
| TTC709_SOFT_TISSUE | 35800070 | 35800249 | 35800094 | 35800094 | Missense_Mutation | T | A | p.Y1619N |
| LB647SCLC_LUNG | 35800070 | 35800249 | 35800132 | 35800132 | Missense_Mutation | G | C | p.M1631I |
| 639V_URINARY_TRACT | 35800070 | 35800249 | 35800163 | 35800163 | Missense_Mutation | G | A | p.V1642M |
| NCIH2731_PLEURA | 35800070 | 35800249 | 35800163 | 35800163 | Missense_Mutation | G | A | p.V1642M |
| SNU1040_LARGE_INTESTINE | 35800070 | 35800249 | 35800163 | 35800163 | Missense_Mutation | G | A | p.V1642M |
| HS936T_SKIN | 35800070 | 35800249 | 35800193 | 35800193 | Missense_Mutation | G | A | p.A1652T |
| 253J_URINARY_TRACT | 35800070 | 35800249 | 35800238 | 35800238 | Missense_Mutation | A | G | p.S1667G |
| 253JBV_URINARY_TRACT | 35800070 | 35800249 | 35800238 | 35800238 | Missense_Mutation | A | G | p.S1667G |
| BT483_BREAST | 35705753 | 35705910 | 35705847 | 35705847 | Nonsense_Mutation | G | T | p.E868* |
| COLO699_LUNG | 35646769 | 35646909 | 35646769 | 35646769 | Splice_Site | C | T | p.Q196* |
| CHL1_SKIN | 35646769 | 35646909 | 35646769 | 35646769 | Splice_Site | C | T | p.Q196* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPEF2 |
| 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_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | COAD | rs6874120 | chr5:35702306 | A/G | 1.95e-04 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | BRCA | rs6874120 | chr5:35702306 | A/G | 3.21e-07 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | BRCA | rs6874120 | chr5:35702306 | A/G | 2.15e-04 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | LGG | rs6874120 | chr5:35702306 | A/G | 7.45e-07 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | LGG | rs6874120 | chr5:35702306 | A/G | 2.25e-03 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | KIRC | rs6874120 | chr5:35702306 | A/G | 6.30e-05 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | KIRC | rs6874120 | chr5:35702306 | A/G | 1.60e-04 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | LIHC | rs6874120 | chr5:35702306 | A/G | 1.78e-06 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | OV | rs6874120 | chr5:35702306 | A/G | 4.35e-06 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | OV | rs6874120 | chr5:35702306 | A/G | 3.28e-04 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | PRAD | rs6874120 | chr5:35702306 | A/G | 4.03e-11 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | PRAD | rs6874120 | chr5:35702306 | A/G | 5.12e-06 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | PRAD | rs6874120 | chr5:35702306 | A/G | 2.30e-03 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | THCA | rs6874120 | chr5:35702306 | A/G | 8.98e-10 |
| exon_skip_434392 | 5 | 35700724:35700854:35702254:35702421:35704655:35704764 | 35702254:35702421 | ENST00000508817.1 | THCA | rs6874120 | chr5:35702306 | A/G | 2.18e-06 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENST00000509059.1,ENST00000282469.6,ENST00000440995.2,ENST00000356031.3 | COAD | rs7706444 | chr5:35644621 | T/C | 2.08e-03 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENST00000509059.1,ENST00000282469.6,ENST00000440995.2,ENST00000356031.3 | BRCA | rs7706444 | chr5:35644621 | T/C | 8.47e-12 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENST00000509059.1,ENST00000282469.6,ENST00000440995.2,ENST00000356031.3 | BRCA | rs7706444 | chr5:35644621 | T/C | 1.18e-05 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENST00000509059.1,ENST00000282469.6,ENST00000440995.2,ENST00000356031.3 | KIRP | rs7706444 | chr5:35644621 | T/C | 2.11e-05 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENST00000509059.1,ENST00000282469.6,ENST00000440995.2,ENST00000356031.3 | LIHC | rs7706444 | chr5:35644621 | T/C | 1.69e-03 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENST00000509059.1,ENST00000282469.6,ENST00000440995.2,ENST00000356031.3 | OV | rs7706444 | chr5:35644621 | T/C | 3.00e-04 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENST00000509059.1,ENST00000282469.6,ENST00000440995.2,ENST00000356031.3 | PCPG | rs7706444 | chr5:35644621 | T/C | 2.12e-05 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENST00000509059.1,ENST00000282469.6,ENST00000440995.2,ENST00000356031.3 | PRAD | rs7706444 | chr5:35644621 | T/C | 3.94e-16 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENST00000509059.1,ENST00000282469.6,ENST00000440995.2,ENST00000356031.3 | PRAD | rs7706444 | chr5:35644621 | T/C | 1.86e-08 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENST00000509059.1,ENST00000282469.6,ENST00000440995.2,ENST00000356031.3 | THCA | rs7706444 | chr5:35644621 | T/C | 1.64e-11 |
| exon_skip_434382 | 5 | 35641686:35641785:35644456:35644627:35646768:35646909 | 35644456:35644627 | ENST00000509059.1,ENST00000282469.6,ENST00000440995.2,ENST00000356031.3 | THCA | rs7706444 | chr5:35644621 | T/C | 9.85e-09 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPEF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPEF2 |
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RelatedDrugs for SPEF2 |
| 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 SPEF2 |
| 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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