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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 SRCAP |
Gene summary |
| Gene information | Gene symbol | SRCAP | Gene ID | 10847 |
| Gene name | Snf2 related CREBBP activator protein | |
| Synonyms | DOMO1|EAF1|FLHS|SWR1 | |
| Cytomap | 16p11.2 | |
| Type of gene | protein-coding | |
| Description | helicase SRCAPSnf2-related CBP activator proteinSwi2/Snf2-related ATPase homolog, domino homolog 1domino homolog 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q6ZRS2 | |
| Context | PubMed: SRCAP [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 SRCAP 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 SRCAP |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SRCAP |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_135831 | 16 | 30723582:30723760:30723999:30724136:30724528:30724698 | 30723999:30724136 | ENSG00000080603.12 | ENST00000344771.4,ENST00000483083.1,ENST00000395059.2,ENST00000380361.3,ENST00000262518.4 |
| exon_skip_135834 | 16 | 30731482:30731652:30732033:30732299:30732509:30732797 | 30732033:30732299 | ENSG00000080603.12 | ENST00000483083.1,ENST00000395059.2,ENST00000262518.4 |
| exon_skip_135839 | 16 | 30732033:30732299:30732509:30732797:30733442:30733567 | 30732509:30732797 | ENSG00000080603.12 | ENST00000483083.1,ENST00000395059.2,ENST00000262518.4 |
| exon_skip_135844 | 16 | 30733445:30733607:30733883:30734069:30734283:30734550 | 30733883:30734069 | ENSG00000080603.12 | ENST00000483083.1,ENST00000262518.4 |
| exon_skip_135853 | 16 | 30734283:30734550:30734904:30736403:30740286:30740552 | 30734904:30736403 | ENSG00000080603.12 | ENST00000344771.4,ENST00000395059.2,ENST00000380361.3,ENST00000262518.4 |
| exon_skip_135857 | 16 | 30740286:30740552:30740690:30740893:30744600:30744770 | 30740690:30740893 | ENSG00000080603.12 | ENST00000344771.4,ENST00000395059.2,ENST00000380361.3,ENST00000262518.4 |
| exon_skip_135858 | 16 | 30744922:30745119:30745214:30745329:30745816:30745936 | 30745214:30745329 | ENSG00000080603.12 | ENST00000344771.4,ENST00000395059.2,ENST00000380361.3,ENST00000262518.4 |
| exon_skip_135860 | 16 | 30747520:30747715:30747861:30747945:30748369:30751449 | 30747861:30747945 | ENSG00000080603.12 | ENST00000344771.4,ENST00000395059.2,ENST00000380361.3,ENST00000262518.4 |
| exon_skip_135876 | 16 | 30748369:30752028:30753061:30753229:30755102:30755602 | 30753061:30753229 | ENSG00000080603.12 | ENST00000380361.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SRCAP |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_135831 | 16 | 30723582:30723760:30723999:30724136:30724528:30724698 | 30723999:30724136 | ENSG00000080603.12 | ENST00000262518.4,ENST00000395059.2,ENST00000344771.4,ENST00000380361.3,ENST00000483083.1 |
| exon_skip_135834 | 16 | 30731482:30731652:30732033:30732299:30732509:30732797 | 30732033:30732299 | ENSG00000080603.12 | ENST00000262518.4,ENST00000395059.2,ENST00000483083.1 |
| exon_skip_135839 | 16 | 30732033:30732299:30732509:30732797:30733442:30733567 | 30732509:30732797 | ENSG00000080603.12 | ENST00000262518.4,ENST00000395059.2,ENST00000483083.1 |
| exon_skip_135844 | 16 | 30733445:30733607:30733883:30734069:30734283:30734550 | 30733883:30734069 | ENSG00000080603.12 | ENST00000262518.4,ENST00000483083.1 |
| exon_skip_135853 | 16 | 30734283:30734550:30734904:30736403:30740286:30740552 | 30734904:30736403 | ENSG00000080603.12 | ENST00000262518.4,ENST00000395059.2,ENST00000344771.4,ENST00000380361.3 |
| exon_skip_135857 | 16 | 30740286:30740552:30740690:30740893:30744600:30744770 | 30740690:30740893 | ENSG00000080603.12 | ENST00000262518.4,ENST00000395059.2,ENST00000344771.4,ENST00000380361.3 |
| exon_skip_135858 | 16 | 30744922:30745119:30745214:30745329:30745816:30745936 | 30745214:30745329 | ENSG00000080603.12 | ENST00000262518.4,ENST00000395059.2,ENST00000344771.4,ENST00000380361.3 |
| exon_skip_135860 | 16 | 30747520:30747715:30747861:30747945:30748369:30751449 | 30747861:30747945 | ENSG00000080603.12 | ENST00000262518.4,ENST00000395059.2,ENST00000344771.4,ENST00000380361.3 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SRCAP |
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 |
| ENST00000262518 | 30723999 | 30724136 | Frame-shift |
| ENST00000262518 | 30732033 | 30732299 | Frame-shift |
| ENST00000262518 | 30734904 | 30736403 | Frame-shift |
| ENST00000262518 | 30740690 | 30740893 | Frame-shift |
| ENST00000262518 | 30745214 | 30745329 | Frame-shift |
| ENST00000262518 | 30732509 | 30732797 | In-frame |
| ENST00000262518 | 30733883 | 30734069 | In-frame |
| ENST00000262518 | 30747861 | 30747945 | 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 |
| ENST00000262518 | 30723999 | 30724136 | Frame-shift |
| ENST00000262518 | 30732033 | 30732299 | Frame-shift |
| ENST00000262518 | 30734904 | 30736403 | Frame-shift |
| ENST00000262518 | 30740690 | 30740893 | Frame-shift |
| ENST00000262518 | 30745214 | 30745329 | Frame-shift |
| ENST00000262518 | 30732509 | 30732797 | In-frame |
| ENST00000262518 | 30733883 | 30734069 | In-frame |
| ENST00000262518 | 30747861 | 30747945 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SRCAP |
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 |
| ENST00000262518 | 10491 | 3230 | 30732509 | 30732797 | 3639 | 3926 | 1084 | 1180 |
| ENST00000262518 | 10491 | 3230 | 30733883 | 30734069 | 4092 | 4277 | 1235 | 1297 |
| ENST00000262518 | 10491 | 3230 | 30747861 | 30747945 | 7310 | 7393 | 2308 | 2336 |
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 |
| ENST00000262518 | 10491 | 3230 | 30732509 | 30732797 | 3639 | 3926 | 1084 | 1180 |
| ENST00000262518 | 10491 | 3230 | 30733883 | 30734069 | 4092 | 4277 | 1235 | 1297 |
| ENST00000262518 | 10491 | 3230 | 30747861 | 30747945 | 7310 | 7393 | 2308 | 2336 |
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 |
| Q6ZRS2 | 1084 | 1180 | 1085 | 1181 | Alternative sequence | ID=VSP_029441;Note=In isoform 3. VLPSPLGVLSGTSRPPTPTLSLKPTPPAPVRLSPAPPPGSSSLLKPLTVPPGYTFPPAAATTTSTTTATATTTAVPAPTPAPQRLILSPDMQARLPS->A;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9205841;Dbxref=PMID:1548933 |
| Q6ZRS2 | 1084 | 1180 | 1 | 3230 | Chain | ID=PRO_0000311236;Note=Helicase SRCAP |
| Q6ZRS2 | 1084 | 1180 | 981 | 1883 | Compositional bias | Note=Pro-rich |
| Q6ZRS2 | 1084 | 1180 | 1172 | 1172 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q6ZRS2 | 1084 | 1180 | 1147 | 1147 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6ZRS2 | 1235 | 1297 | 1236 | 1298 | Alternative sequence | ID=VSP_029442;Note=In isoform 2 and isoform 3. RNVVHLVSAGGQHHLISQPAHVALIQAVAPTPGPTPVSVLPSSTPSTTPAPTGLSLPLAANQV->M;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10347196,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9205841 |
| Q6ZRS2 | 1235 | 1297 | 1 | 3230 | Chain | ID=PRO_0000311236;Note=Helicase SRCAP |
| Q6ZRS2 | 1235 | 1297 | 981 | 1883 | Compositional bias | Note=Pro-rich |
| Q6ZRS2 | 2308 | 2336 | 1 | 3230 | Chain | ID=PRO_0000311236;Note=Helicase SRCAP |
| Q6ZRS2 | 2308 | 2336 | 2227 | 2362 | Compositional bias | Note=Glu-rich |
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 |
| Q6ZRS2 | 1084 | 1180 | 1085 | 1181 | Alternative sequence | ID=VSP_029441;Note=In isoform 3. VLPSPLGVLSGTSRPPTPTLSLKPTPPAPVRLSPAPPPGSSSLLKPLTVPPGYTFPPAAATTTSTTTATATTTAVPAPTPAPQRLILSPDMQARLPS->A;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9205841;Dbxref=PMID:1548933 |
| Q6ZRS2 | 1084 | 1180 | 1 | 3230 | Chain | ID=PRO_0000311236;Note=Helicase SRCAP |
| Q6ZRS2 | 1084 | 1180 | 981 | 1883 | Compositional bias | Note=Pro-rich |
| Q6ZRS2 | 1084 | 1180 | 1172 | 1172 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q6ZRS2 | 1084 | 1180 | 1147 | 1147 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6ZRS2 | 1235 | 1297 | 1236 | 1298 | Alternative sequence | ID=VSP_029442;Note=In isoform 2 and isoform 3. RNVVHLVSAGGQHHLISQPAHVALIQAVAPTPGPTPVSVLPSSTPSTTPAPTGLSLPLAANQV->M;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10347196,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9205841 |
| Q6ZRS2 | 1235 | 1297 | 1 | 3230 | Chain | ID=PRO_0000311236;Note=Helicase SRCAP |
| Q6ZRS2 | 1235 | 1297 | 981 | 1883 | Compositional bias | Note=Pro-rich |
| Q6ZRS2 | 2308 | 2336 | 1 | 3230 | Chain | ID=PRO_0000311236;Note=Helicase SRCAP |
| Q6ZRS2 | 2308 | 2336 | 2227 | 2362 | Compositional bias | Note=Glu-rich |
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SNVs in the skipped exons for SRCAP |
- 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. |
SRCAP_COAD_exon_skip_135844_psi_boxplot.png![]() |
- 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-A3A0-01 | 30724000 | 30724136 | 30724016 | 30724016 | Frame_Shift_Del | T | - | p.H670fs | |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_135834 | 30732034 | 30732299 | 30732218 | 30732218 | Frame_Shift_Del | C | - | p.P1059fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_135834 | 30732034 | 30732299 | 30732218 | 30732218 | Frame_Shift_Del | C | - | p.P1059fs |
| LUAD | TCGA-55-8507-01 | exon_skip_135834 | 30732034 | 30732299 | 30732218 | 30732218 | Frame_Shift_Del | C | - | p.P1059fs |
| PRAD | TCGA-CH-5750-01 | exon_skip_135839 | 30732510 | 30732797 | 30732660 | 30732666 | Frame_Shift_Del | CAGGCTA | - | p.PGY1135fs |
| COAD | TCGA-A6-6653-01 | exon_skip_135844 | 30733884 | 30734069 | 30733910 | 30733910 | Frame_Shift_Del | G | - | p.A1244fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_135844 | 30733884 | 30734069 | 30733910 | 30733910 | Frame_Shift_Del | G | - | p.G1246fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_135844 | 30733884 | 30734069 | 30733979 | 30733979 | Frame_Shift_Del | G | - | p.G1268fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_135844 | 30733884 | 30734069 | 30733986 | 30733986 | Frame_Shift_Del | C | - | p.T1270fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_135844 | 30733884 | 30734069 | 30734013 | 30734013 | Frame_Shift_Del | C | - | p.T1279fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_135844 | 30733884 | 30734069 | 30734031 | 30734031 | Frame_Shift_Del | C | - | p.A1285fs |
| STAD | TCGA-HU-A4G9-01 | exon_skip_135853 | 30734905 | 30736403 | 30734923 | 30734923 | Frame_Shift_Del | C | - | p.A1393fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_135853 | 30734905 | 30736403 | 30735197 | 30735197 | Frame_Shift_Del | C | - | p.V1484fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_135853 | 30734905 | 30736403 | 30735241 | 30735241 | Frame_Shift_Del | C | - | p.S1499fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_135853 | 30734905 | 30736403 | 30735314 | 30735314 | Frame_Shift_Del | C | - | p.H1523fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_135853 | 30734905 | 30736403 | 30735354 | 30735354 | Frame_Shift_Del | T | - | p.L1537fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_135853 | 30734905 | 30736403 | 30735727 | 30735727 | Frame_Shift_Del | A | - | p.Q1661fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_135853 | 30734905 | 30736403 | 30735857 | 30735857 | Frame_Shift_Del | G | - | p.T1704fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_135853 | 30734905 | 30736403 | 30736261 | 30736261 | Frame_Shift_Del | C | - | p.S1839fs |
| BLCA | TCGA-G2-A3IE-01 | exon_skip_135853 | 30734905 | 30736403 | 30736314 | 30736314 | Frame_Shift_Del | C | - | p.P1857fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_135853 | 30734905 | 30736403 | 30736314 | 30736314 | Frame_Shift_Del | C | - | p.P1858fs |
| ACC | TCGA-OR-A5LB-01 | exon_skip_135853 | 30734905 | 30736403 | 30736371 | 30736371 | Frame_Shift_Del | C | - | p.Q1875fs |
| COAD | TCGA-CK-5913-01 | exon_skip_135853 | 30734905 | 30736403 | 30736371 | 30736371 | Frame_Shift_Del | C | - | p.Q1875fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_135853 | 30734905 | 30736403 | 30736371 | 30736371 | Frame_Shift_Del | C | - | p.P1878fs |
| READ | TCGA-EI-6882-01 | exon_skip_135853 | 30734905 | 30736403 | 30736371 | 30736371 | Frame_Shift_Del | C | - | p.Q1875fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_135853 | 30734905 | 30736403 | 30736371 | 30736371 | Frame_Shift_Del | C | - | p.P1880fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_135853 | 30734905 | 30736403 | 30736371 | 30736371 | Frame_Shift_Del | C | - | p.Q1875fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_135857 | 30740691 | 30740893 | 30740725 | 30740725 | Frame_Shift_Del | C | - | p.P1988fs |
| STAD | TCGA-F1-6874-01 | exon_skip_135857 | 30740691 | 30740893 | 30740725 | 30740725 | Frame_Shift_Del | C | - | p.P1986fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_135858 | 30745215 | 30745329 | 30745296 | 30745296 | Frame_Shift_Del | G | - | p.E2192fs |
| UCEC | TCGA-A5-A0GW-01 | exon_skip_135844 | 30733884 | 30734069 | 30733909 | 30733910 | Frame_Shift_Ins | - | G | p.A1244fs |
| UCEC | TCGA-AP-A05D-01 | exon_skip_135844 | 30733884 | 30734069 | 30733909 | 30733910 | Frame_Shift_Ins | - | G | p.A1244fs |
| TGCT | TCGA-2G-AAG5-01 | exon_skip_135853 | 30734905 | 30736403 | 30735366 | 30735367 | Frame_Shift_Ins | - | T | p.V1541fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_135853 | 30734905 | 30736403 | 30735437 | 30735438 | Frame_Shift_Ins | - | C | p.S1565fs |
| BRCA | TCGA-A8-A09K-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.P1878fs |
| COAD | TCGA-A6-6653-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.Q1875fs |
| COAD | TCGA-AD-6889-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.Q1875fs |
| COAD | TCGA-AY-6196-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.Q1875fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.Q1875fs |
| COAD | TCGA-CK-5916-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.Q1875fs |
| COAD | TCGA-CM-6171-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.Q1875fs |
| COAD | TCGA-D5-6928-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.Q1875fs |
| ESCA | TCGA-R6-A6XG-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.HP1875fs |
| ESCA | TCGA-R6-A6XG-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.P1878fs |
| HNSC | TCGA-F7-A61V-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.HP1875fs |
| KIRP | TCGA-B3-8121-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.Q1875fs |
| KIRP | TCGA-BQ-7045-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.Q1875fs |
| LGG | TCGA-FG-5963-02 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.HP1875fs |
| LUAD | TCGA-35-3615-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.HP1875fs |
| LUAD | TCGA-44-2655-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.HP1875fs |
| SKCM | TCGA-DA-A95Y-06 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.HP1875fs |
| UCS | TCGA-N5-A4RJ-01 | exon_skip_135853 | 30734905 | 30736403 | 30736370 | 30736371 | Frame_Shift_Ins | - | C | p.HP1875fs |
| STAD | TCGA-BR-4361-01 | exon_skip_135853 | 30734905 | 30736403 | 30736371 | 30736372 | Frame_Shift_Ins | - | C | p.Q1875fs |
| STAD | TCGA-BR-4362-01 | exon_skip_135853 | 30734905 | 30736403 | 30736371 | 30736372 | Frame_Shift_Ins | - | C | p.Q1875fs |
| STAD | TCGA-BR-8361-01 | exon_skip_135853 | 30734905 | 30736403 | 30736371 | 30736372 | Frame_Shift_Ins | - | C | p.Q1875fs |
| STAD | TCGA-CG-4305-01 | exon_skip_135853 | 30734905 | 30736403 | 30736371 | 30736372 | Frame_Shift_Ins | - | C | p.Q1875fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_135853 | 30734905 | 30736403 | 30736371 | 30736372 | Frame_Shift_Ins | - | C | p.Q1875fs |
| THYM | TCGA-3G-AB0Q-01 | 30724000 | 30724136 | 30724053 | 30724053 | Nonsense_Mutation | G | T | p.E683X | |
| BLCA | TCGA-SY-A9G5-01 | exon_skip_135834 | 30732034 | 30732299 | 30732144 | 30732144 | Nonsense_Mutation | C | G | p.S1033* |
| BLCA | TCGA-SY-A9G5-01 | exon_skip_135834 | 30732034 | 30732299 | 30732201 | 30732201 | Nonsense_Mutation | C | G | p.S1052* |
| SKCM | TCGA-EE-A20C-06 | exon_skip_135857 | 30740691 | 30740893 | 30740785 | 30740785 | Nonsense_Mutation | C | T | p.Q2007* |
| SKCM | TCGA-EE-A20C-06 | exon_skip_135857 | 30740691 | 30740893 | 30740785 | 30740785 | Nonsense_Mutation | C | T | p.Q2007X |
| SKCM | TCGA-EB-A431-01 | exon_skip_135857 | 30740691 | 30740893 | 30740881 | 30740881 | Nonsense_Mutation | C | T | p.Q2039* |
| SKCM | TCGA-EE-A29N-06 | exon_skip_135857 | 30740691 | 30740893 | 30740881 | 30740881 | Nonsense_Mutation | C | T | p.Q2039* |
| BRCA | TCGA-E9-A1RF-01 | exon_skip_135858 | 30745215 | 30745329 | 30745237 | 30745237 | Nonsense_Mutation | G | T | p.E2173* |
| DLBC | TCGA-GS-A9TU-01 | exon_skip_135860 | 30747862 | 30747945 | 30747922 | 30747922 | Nonsense_Mutation | C | T | p.R2329X |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
| SNU407_LARGE_INTESTINE | 30733884 | 30734069 | 30733910 | 30733910 | Frame_Shift_Del | G | - | p.G1246fs |
| HEC6_ENDOMETRIUM | 30734905 | 30736403 | 30734923 | 30734923 | Frame_Shift_Del | C | - | p.A1393fs |
| LXF289_LUNG | 30734905 | 30736403 | 30735137 | 30735140 | Frame_Shift_Del | TGTT | - | p.TV1464fs |
| LXF289_LUNG | 30734905 | 30736403 | 30735143 | 30735144 | Frame_Shift_Del | TG | - | p.A1467fs |
| SNU520_STOMACH | 30734905 | 30736403 | 30735843 | 30735844 | Frame_Shift_Del | CT | - | p.L1700fs |
| HEC265_ENDOMETRIUM | 30734905 | 30736403 | 30736371 | 30736371 | Frame_Shift_Del | C | - | p.P1880fs |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30733884 | 30734069 | 30734004 | 30734006 | In_Frame_Del | CTT | - | p.S1278del |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 30733884 | 30734069 | 30734004 | 30734006 | In_Frame_Del | CTT | - | p.S1278del |
| LXF289_LUNG | 30734905 | 30736403 | 30735136 | 30735141 | In_Frame_Del | CTGTTT | - | p.VS1465del |
| NCIH345_LUNG | 30724000 | 30724136 | 30724009 | 30724009 | Missense_Mutation | G | A | p.G668D |
| G361_SKIN | 30732034 | 30732299 | 30732092 | 30732092 | Missense_Mutation | C | T | p.R1016W |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30732034 | 30732299 | 30732120 | 30732120 | Missense_Mutation | G | A | p.R1025Q |
| NCIH2066_LUNG | 30732510 | 30732797 | 30732539 | 30732539 | Missense_Mutation | G | T | p.G1095W |
| PANC0813_PANCREAS | 30732510 | 30732797 | 30732578 | 30732578 | Missense_Mutation | C | T | p.P1108S |
| OVISE_OVARY | 30732510 | 30732797 | 30732648 | 30732648 | Missense_Mutation | T | C | p.L1131P |
| FU97_STOMACH | 30732510 | 30732797 | 30732723 | 30732723 | Missense_Mutation | C | T | p.T1156I |
| NB17_AUTONOMIC_GANGLIA | 30732510 | 30732797 | 30732734 | 30732734 | Missense_Mutation | C | A | p.P1160T |
| COLO679_SKIN | 30732510 | 30732797 | 30732753 | 30732753 | Missense_Mutation | C | T | p.P1166L |
| VCAP_PROSTATE | 30733884 | 30734069 | 30733911 | 30733911 | Missense_Mutation | G | T | p.G1245V |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30733884 | 30734069 | 30733925 | 30733925 | Missense_Mutation | C | T | p.L1250F |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30733884 | 30734069 | 30733955 | 30733955 | Missense_Mutation | A | G | p.I1260V |
| COLO792_SKIN | 30733884 | 30734069 | 30734051 | 30734051 | Missense_Mutation | C | T | p.P1292S |
| CCK81_LARGE_INTESTINE | 30734905 | 30736403 | 30735007 | 30735007 | Missense_Mutation | C | T | p.S1421F |
| K029AX_SKIN | 30734905 | 30736403 | 30735045 | 30735045 | Missense_Mutation | C | T | p.P1434S |
| JHH2_LIVER | 30734905 | 30736403 | 30735082 | 30735082 | Missense_Mutation | C | T | p.T1446I |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 30734905 | 30736403 | 30735082 | 30735082 | Missense_Mutation | C | T | p.T1446I |
| RCM1_LARGE_INTESTINE | 30734905 | 30736403 | 30735082 | 30735082 | Missense_Mutation | C | T | p.T1446I |
| SAT_UPPER_AERODIGESTIVE_TRACT | 30734905 | 30736403 | 30735082 | 30735082 | Missense_Mutation | C | T | p.T1446I |
| TUHR14TKB_KIDNEY | 30734905 | 30736403 | 30735280 | 30735280 | Missense_Mutation | C | T | p.A1512V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30734905 | 30736403 | 30735309 | 30735309 | Missense_Mutation | G | A | p.G1522S |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30734905 | 30736403 | 30735310 | 30735310 | Missense_Mutation | G | A | p.G1522D |
| JHH4_LIVER | 30734905 | 30736403 | 30735363 | 30735363 | Missense_Mutation | A | G | p.T1540A |
| SKMEL24_SKIN | 30734905 | 30736403 | 30735387 | 30735387 | Missense_Mutation | G | C | p.V1548L |
| SNU213_PANCREAS | 30734905 | 30736403 | 30735515 | 30735515 | Missense_Mutation | G | A | p.M1590I |
| HEC59_ENDOMETRIUM | 30734905 | 30736403 | 30735642 | 30735642 | Missense_Mutation | G | T | p.A1633S |
| SKOV3_OVARY | 30734905 | 30736403 | 30735730 | 30735730 | Missense_Mutation | C | T | p.T1662I |
| F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30734905 | 30736403 | 30735810 | 30735810 | Missense_Mutation | C | G | p.P1689A |
| NCIH2087_LUNG | 30734905 | 30736403 | 30735823 | 30735823 | Missense_Mutation | G | T | p.G1693V |
| SKUT1_SOFT_TISSUE | 30734905 | 30736403 | 30735864 | 30735864 | Missense_Mutation | C | A | p.P1707T |
| NCIH1770_LUNG | 30734905 | 30736403 | 30735870 | 30735870 | Missense_Mutation | G | A | p.G1709R |
| NCIH2106_LUNG | 30734905 | 30736403 | 30735870 | 30735870 | Missense_Mutation | G | A | p.G1709R |
| CAPAN2_PANCREAS | 30734905 | 30736403 | 30735888 | 30735888 | Missense_Mutation | A | T | p.T1715S |
| BFTC905_URINARY_TRACT | 30734905 | 30736403 | 30736023 | 30736023 | Missense_Mutation | G | C | p.V1760L |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 30734905 | 30736403 | 30736038 | 30736038 | Missense_Mutation | G | A | p.A1765T |
| HEC6_ENDOMETRIUM | 30734905 | 30736403 | 30736039 | 30736039 | Missense_Mutation | C | A | p.A1765D |
| MFE319_ENDOMETRIUM | 30734905 | 30736403 | 30736114 | 30736114 | Missense_Mutation | T | C | p.L1790S |
| HCC1569_BREAST | 30734905 | 30736403 | 30736203 | 30736203 | Missense_Mutation | G | A | p.A1820T |
| CASKI_CERVIX | 30734905 | 30736403 | 30736263 | 30736263 | Missense_Mutation | C | T | p.R1840W |
| HMY1_SKIN | 30734905 | 30736403 | 30736275 | 30736275 | Missense_Mutation | T | C | p.S1844P |
| MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30734905 | 30736403 | 30736275 | 30736275 | Missense_Mutation | T | C | p.S1844P |
| NCIH1648_LUNG | 30734905 | 30736403 | 30736338 | 30736338 | Missense_Mutation | A | G | p.T1865A |
| JHOS4_OVARY | 30740691 | 30740893 | 30740750 | 30740750 | Missense_Mutation | C | A | p.P1995Q |
| NO11_CENTRAL_NERVOUS_SYSTEM | 30740691 | 30740893 | 30740821 | 30740821 | Missense_Mutation | C | T | p.R2019C |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30740691 | 30740893 | 30740852 | 30740852 | Missense_Mutation | G | A | p.R2029H |
| MFE319_ENDOMETRIUM | 30747862 | 30747945 | 30747880 | 30747880 | Missense_Mutation | T | C | p.Y2315H |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30747862 | 30747945 | 30747923 | 30747923 | Missense_Mutation | G | A | p.R2329Q |
| CROAP3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30747862 | 30747945 | 30747943 | 30747943 | Missense_Mutation | G | A | p.E2336K |
| HUH28_BILIARY_TRACT | 30733884 | 30734069 | 30734010 | 30734010 | Nonsense_Mutation | C | A | p.S1278* |
| CW2_LARGE_INTESTINE | 30747862 | 30747945 | 30747910 | 30747910 | Nonsense_Mutation | G | T | p.E2325* |
| SNU1040_LARGE_INTESTINE | 30747862 | 30747945 | 30747922 | 30747922 | Nonsense_Mutation | C | T | p.R2329* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SRCAP |
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 SRCAP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SRCAP |
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RelatedDrugs for SRCAP |
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 SRCAP |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SRCAP | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |