Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_479346 | 7 | 124467267:124467359:124469307:124469396:124475332:124475468 | 124469307:124469396 | ENSG00000128513.10 | ENST00000608057.1,ENST00000357628.3,ENST00000609106.1,ENST00000393329.1 |
exon_skip_479348 | 7 | 124467267:124467359:124475332:124475468:124481026:124481232 | 124475332:124475468 | ENSG00000128513.10 | ENST00000607932.1 |
exon_skip_479349 | 7 | 124469307:124469396:124475332:124475468:124481026:124481232 | 124475332:124475468 | ENSG00000128513.10 | ENST00000608057.1,ENST00000357628.3,ENST00000609106.1,ENST00000393329.1 |
exon_skip_479350 | 7 | 124482860:124483017:124486995:124487052:124491925:124492005 | 124486995:124487052 | ENSG00000128513.10 | ENST00000357628.3,ENST00000609106.1,ENST00000607932.1,ENST00000393329.1 |
exon_skip_479351 | 7 | 124486995:124487052:124488593:124488713:124491925:124492005 | 124488593:124488713 | ENSG00000128513.10 | ENST00000608057.1 |
exon_skip_479352 | 7 | 124493025:124493192:124499010:124499166:124503403:124503439 | 124499010:124499166 | ENSG00000128513.10 | ENST00000608057.1,ENST00000357628.3,ENST00000609106.1,ENST00000607932.1,ENST00000393329.1 |
exon_skip_479354 | 7 | 124499031:124499166:124503403:124503694:124510964:124511095 | 124503403:124503694 | ENSG00000128513.10 | ENST00000608057.1,ENST00000357628.3,ENST00000609106.1,ENST00000607932.1 |
exon_skip_479355 | 7 | 124499031:124499166:124503403:124503694:124532319:124532434 | 124503403:124503694 | ENSG00000128513.10 | ENST00000429326.1,ENST00000393329.1 |
exon_skip_479358 | 7 | 124503403:124503694:124510964:124511095:124532319:124532434 | 124510964:124511095 | ENSG00000128513.10 | ENST00000608057.1,ENST00000357628.3,ENST00000609106.1,ENST00000607932.1 |
exon_skip_479360 | 7 | 124532319:124532434:124532755:124532869:124537218:124537238 | 124532755:124532869 | ENSG00000128513.10 | ENST00000608261.1 |
exon_skip_479362 | 7 | 124538314:124538428:124555627:124555700:124568868:124569050 | 124555627:124555700 | ENSG00000128513.10 | ENST00000446993.1,ENST00000608261.1,ENST00000608437.1,ENST00000357628.3,ENST00000461288.1,ENST00000609106.1,ENST00000393329.1 |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_479346 | 7 | 124467267:124467359:124469307:124469396:124475332:124475468 | 124469307:124469396 | ENSG00000128513.10 | ENST00000357628.3,ENST00000393329.1,ENST00000609106.1,ENST00000608057.1 |
exon_skip_479348 | 7 | 124467267:124467359:124475332:124475468:124481026:124481232 | 124475332:124475468 | ENSG00000128513.10 | ENST00000607932.1 |
exon_skip_479349 | 7 | 124469307:124469396:124475332:124475468:124481026:124481232 | 124475332:124475468 | ENSG00000128513.10 | ENST00000357628.3,ENST00000393329.1,ENST00000609106.1,ENST00000608057.1 |
exon_skip_479350 | 7 | 124482860:124483017:124486995:124487052:124491925:124492005 | 124486995:124487052 | ENSG00000128513.10 | ENST00000357628.3,ENST00000393329.1,ENST00000609106.1,ENST00000607932.1 |
exon_skip_479351 | 7 | 124486995:124487052:124488593:124488713:124491925:124492005 | 124488593:124488713 | ENSG00000128513.10 | ENST00000608057.1 |
exon_skip_479352 | 7 | 124493025:124493192:124499010:124499166:124503403:124503439 | 124499010:124499166 | ENSG00000128513.10 | ENST00000357628.3,ENST00000393329.1,ENST00000609106.1,ENST00000607932.1,ENST00000608057.1 |
exon_skip_479354 | 7 | 124499031:124499166:124503403:124503694:124510964:124511095 | 124503403:124503694 | ENSG00000128513.10 | ENST00000357628.3,ENST00000609106.1,ENST00000607932.1,ENST00000608057.1 |
exon_skip_479355 | 7 | 124499031:124499166:124503403:124503694:124532319:124532434 | 124503403:124503694 | ENSG00000128513.10 | ENST00000393329.1,ENST00000429326.1 |
exon_skip_479358 | 7 | 124503403:124503694:124510964:124511095:124532319:124532434 | 124510964:124511095 | ENSG00000128513.10 | ENST00000357628.3,ENST00000609106.1,ENST00000607932.1,ENST00000608057.1 |
exon_skip_479360 | 7 | 124532319:124532434:124532755:124532869:124537218:124537238 | 124532755:124532869 | ENSG00000128513.10 | ENST00000608261.1 |
exon_skip_479362 | 7 | 124538314:124538428:124555627:124555700:124568868:124569050 | 124555627:124555700 | ENSG00000128513.10 | ENST00000357628.3,ENST00000393329.1,ENST00000609106.1,ENST00000446993.1,ENST00000608261.1,ENST00000608437.1,ENST00000461288.1 |
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 |
Q9NUX5 | 85 | 182 | 78 | 89 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 85 | 182 | 92 | 106 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 85 | 182 | 161 | 173 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 85 | 182 | 175 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 85 | 182 | 1 | 634 | Chain | ID=PRO_0000121728;Note=Protection of telomeres protein 1 |
Q9NUX5 | 85 | 182 | 127 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 85 | 182 | 153 | 155 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 85 | 182 | 89 | 89 | Natural variant | ID=VAR_071390;Note=In CMM10%3B complete abolition of POT1-DNA complex formation%2C thus disrupting the interaction with telomeres and leading to elongated telomeres. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686849;Dbxref=dbSNP:rs587777 |
Q9NUX5 | 85 | 182 | 94 | 94 | Natural variant | ID=VAR_071391;Note=In CMM10%3B complete abolition of POT1-DNA complex formation%2C thus disrupting the interaction with telomeres and leading to elongated telomeres. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686849;Dbxref=dbSNP:rs587777 |
Q9NUX5 | 85 | 182 | 95 | 95 | Natural variant | ID=VAR_075717;Note=In GLM9. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25482530;Dbxref=dbSNP:rs797045168,PMID:25482530 |
Q9NUX5 | 85 | 182 | 137 | 137 | Natural variant | ID=VAR_071392;Note=In CMM10%3B increased telomere intensity signals and telomere fragility. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686846;Dbxref=dbSNP:rs587777475,PMID:24686846 |
Q9NUX5 | 182 | 234 | 175 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 182 | 234 | 217 | 223 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 182 | 234 | 1 | 634 | Chain | ID=PRO_0000121728;Note=Protection of telomeres protein 1 |
Q9NUX5 | 182 | 234 | 207 | 213 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 182 | 234 | 214 | 216 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 182 | 234 | 226 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 182 | 234 | 224 | 224 | Natural variant | ID=VAR_071393;Note=In CMM10. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686846;Dbxref=dbSNP:rs202187871,PMID:24686846 |
Q9NUX5 | 182 | 234 | 200 | 202 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KJP |
Q9NUX5 | 316 | 335 | 334 | 339 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UN7 |
Q9NUX5 | 316 | 335 | 1 | 634 | Chain | ID=PRO_0000121728;Note=Protection of telomeres protein 1 |
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 |
Q9NUX5 | 85 | 182 | 78 | 89 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 85 | 182 | 92 | 106 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 85 | 182 | 161 | 173 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 85 | 182 | 175 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 85 | 182 | 1 | 634 | Chain | ID=PRO_0000121728;Note=Protection of telomeres protein 1 |
Q9NUX5 | 85 | 182 | 127 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 85 | 182 | 153 | 155 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 85 | 182 | 89 | 89 | Natural variant | ID=VAR_071390;Note=In CMM10%3B complete abolition of POT1-DNA complex formation%2C thus disrupting the interaction with telomeres and leading to elongated telomeres. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686849;Dbxref=dbSNP:rs587777 |
Q9NUX5 | 85 | 182 | 94 | 94 | Natural variant | ID=VAR_071391;Note=In CMM10%3B complete abolition of POT1-DNA complex formation%2C thus disrupting the interaction with telomeres and leading to elongated telomeres. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686849;Dbxref=dbSNP:rs587777 |
Q9NUX5 | 85 | 182 | 95 | 95 | Natural variant | ID=VAR_075717;Note=In GLM9. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25482530;Dbxref=dbSNP:rs797045168,PMID:25482530 |
Q9NUX5 | 85 | 182 | 137 | 137 | Natural variant | ID=VAR_071392;Note=In CMM10%3B increased telomere intensity signals and telomere fragility. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686846;Dbxref=dbSNP:rs587777475,PMID:24686846 |
Q9NUX5 | 182 | 234 | 175 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 182 | 234 | 217 | 223 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 182 | 234 | 1 | 634 | Chain | ID=PRO_0000121728;Note=Protection of telomeres protein 1 |
Q9NUX5 | 182 | 234 | 207 | 213 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 182 | 234 | 214 | 216 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 182 | 234 | 226 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
Q9NUX5 | 182 | 234 | 224 | 224 | Natural variant | ID=VAR_071393;Note=In CMM10. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686846;Dbxref=dbSNP:rs202187871,PMID:24686846 |
Q9NUX5 | 182 | 234 | 200 | 202 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KJP |
Q9NUX5 | 316 | 335 | 334 | 339 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UN7 |
Q9NUX5 | 316 | 335 | 1 | 634 | Chain | ID=PRO_0000121728;Note=Protection of telomeres protein 1 |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
NCIH1341_LUNG | 124499011 | 124499166 | 124499114 | 124499114 | Frame_Shift_Del | T | - | p.D200fs |
PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124503404 | 124503694 | 124503487 | 124503488 | Frame_Shift_Del | CA | - | p.CD154fs |
NCIH358_LUNG | 124469308 | 124469396 | 124469340 | 124469340 | Missense_Mutation | T | C | p.K521R |
EW1_BONE | 124475333 | 124475468 | 124475348 | 124475348 | Missense_Mutation | G | A | p.T497I |
HCT15_LARGE_INTESTINE | 124475333 | 124475468 | 124475393 | 124475393 | Missense_Mutation | T | C | p.D482G |
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124475333 | 124475468 | 124475397 | 124475397 | Missense_Mutation | C | T | p.E481K |
NMCG1_CENTRAL_NERVOUS_SYSTEM | 124486996 | 124487052 | 124487025 | 124487025 | Missense_Mutation | A | G | p.V326A |
KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124486996 | 124487052 | 124487025 | 124487025 | Missense_Mutation | A | G | p.V326A |
ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124486996 | 124487052 | 124487025 | 124487025 | Missense_Mutation | A | G | p.V326A |
BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124486996 | 124487052 | 124487025 | 124487025 | Missense_Mutation | A | G | p.V326A |
CAR1_LARGE_INTESTINE | 124486996 | 124487052 | 124487025 | 124487025 | Missense_Mutation | A | G | p.V326A |
EN_ENDOMETRIUM | 124486996 | 124487052 | 124487025 | 124487025 | Missense_Mutation | A | G | p.V326A |
HAL01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124486996 | 124487052 | 124487025 | 124487025 | Missense_Mutation | A | G | p.V326A |
NOS1_BONE | 124486996 | 124487052 | 124487025 | 124487025 | Missense_Mutation | A | G | p.V326A |
OVISE_OVARY | 124486996 | 124487052 | 124487025 | 124487025 | Missense_Mutation | A | G | p.V326A |
SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124486996 | 124487052 | 124487025 | 124487025 | Missense_Mutation | A | G | p.V326A |
EMCBAC1_LUNG | 124499011 | 124499166 | 124499057 | 124499057 | Missense_Mutation | T | G | p.D219A |
NCIH1793_LUNG | 124499011 | 124499166 | 124499156 | 124499156 | Missense_Mutation | C | A | p.G186V |
JHUEM7_ENDOMETRIUM | 124503404 | 124503694 | 124503412 | 124503412 | Missense_Mutation | G | T | p.L180I |
NCIH727_LUNG | 124503404 | 124503694 | 124503424 | 124503424 | Missense_Mutation | C | T | p.G176R |
GOTO_AUTONOMIC_GANGLIA | 124503404 | 124503694 | 124503441 | 124503441 | Missense_Mutation | C | T | p.G170D |
NCIH2452_PLEURA | 124503404 | 124503694 | 124503475 | 124503475 | Missense_Mutation | T | C | p.M159V |
HCC2998_LARGE_INTESTINE | 124503404 | 124503694 | 124503508 | 124503508 | Missense_Mutation | A | G | p.W148R |
KM12_LARGE_INTESTINE | 124503404 | 124503694 | 124503570 | 124503570 | Missense_Mutation | G | A | p.T127I |
SNU520_STOMACH | 124503404 | 124503694 | 124503669 | 124503669 | Missense_Mutation | T | G | p.Q94P |
MFE319_ENDOMETRIUM | 124503404 | 124503694 | 124503669 | 124503669 | Missense_Mutation | T | C | p.Q94R |
RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124510965 | 124511095 | 124511000 | 124511000 | Missense_Mutation | T | C | p.K74E |
MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124510965 | 124511095 | 124511036 | 124511036 | Missense_Mutation | A | C | p.F62V |
CORL95_LUNG | 124510965 | 124511095 | 124511065 | 124511065 | Missense_Mutation | T | G | p.Q52P |
MCC13_SKIN | 124503404 | 124503694 | 124503691 | 124503691 | Nonsense_Mutation | G | A | p.Q87* |
ES8_BONE | 124510965 | 124511095 | 124511066 | 124511066 | Nonsense_Mutation | G | A | p.Q52* |
LIM1215_LARGE_INTESTINE | 124510965 | 124511095 | 124510965 | 124510965 | Splice_Site | C | A | p.K85N |