Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_5932 | 1 | 46295110:46295253:46348035:46348067:46425057:46425149 | 46348035:46348067 | ENSG00000086015.16 | ENST00000372009.2,ENST00000361297.2 |
exon_skip_5939 | 1 | 46348038:46348067:46425057:46425149:46463395:46463471 | 46425057:46425149 | ENSG00000086015.16 | ENST00000372009.2,ENST00000361297.2 |
exon_skip_5940 | 1 | 46379259:46379386:46383010:46383205:46425057:46425149 | 46383010:46383205 | ENSG00000086015.16 | ENST00000372008.2 |
exon_skip_5943 | 1 | 46425057:46425149:46463395:46463471:46468476:46468555 | 46463395:46463471 | ENSG00000086015.16 | ENST00000372009.2,ENST00000372008.2,ENST00000361297.2,ENST00000482881.1 |
exon_skip_5948 | 1 | 46463395:46463471:46468476:46468555:46471912:46472067 | 46468476:46468555 | ENSG00000086015.16 | ENST00000372009.2,ENST00000372008.2,ENST00000361297.2,ENST00000482881.1 |
exon_skip_5950 | 1 | 46473967:46474043:46476401:46476611:46485267:46485369 | 46476401:46476611 | ENSG00000086015.16 | ENST00000372008.2,ENST00000361297.2 |
exon_skip_5952 | 1 | 46476401:46476611:46485267:46485369:46487621:46487754 | 46485267:46485369 | ENSG00000086015.16 | ENST00000372008.2,ENST00000361297.2 |
exon_skip_5954 | 1 | 46488904:46488990:46489443:46489652:46491348:46491487 | 46489443:46489652 | ENSG00000086015.16 | ENST00000372009.2,ENST00000372008.2,ENST00000361297.2 |
exon_skip_5955 | 1 | 46489443:46489652:46491348:46491487:46493402:46493535 | 46491348:46491487 | ENSG00000086015.16 | ENST00000372009.2,ENST00000372008.2,ENST00000361297.2 |
exon_skip_5957 | 1 | 46493402:46493535:46494439:46494605:46495137:46495239 | 46494439:46494605 | ENSG00000086015.16 | ENST00000372009.2,ENST00000372008.2,ENST00000361297.2 |
exon_skip_5961 | 1 | 46494439:46494605:46495137:46495239:46495502:46495625 | 46495137:46495239 | ENSG00000086015.16 | ENST00000372009.2,ENST00000372008.2,ENST00000361297.2 |
exon_skip_5962 | 1 | 46495137:46495239:46495502:46495625:46495800:46495910 | 46495502:46495625 | ENSG00000086015.16 | ENST00000372009.2,ENST00000372008.2,ENST00000361297.2,ENST00000477968.1 |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_5932 | 1 | 46295110:46295253:46348035:46348067:46425057:46425149 | 46348035:46348067 | ENSG00000086015.16 | ENST00000361297.2,ENST00000372009.2 |
exon_skip_5939 | 1 | 46348038:46348067:46425057:46425149:46463395:46463471 | 46425057:46425149 | ENSG00000086015.16 | ENST00000361297.2,ENST00000372009.2 |
exon_skip_5940 | 1 | 46379259:46379386:46383010:46383205:46425057:46425149 | 46383010:46383205 | ENSG00000086015.16 | ENST00000372008.2 |
exon_skip_5943 | 1 | 46425057:46425149:46463395:46463471:46468476:46468555 | 46463395:46463471 | ENSG00000086015.16 | ENST00000361297.2,ENST00000372009.2,ENST00000372008.2,ENST00000482881.1 |
exon_skip_5948 | 1 | 46463395:46463471:46468476:46468555:46471912:46472067 | 46468476:46468555 | ENSG00000086015.16 | ENST00000361297.2,ENST00000372009.2,ENST00000372008.2,ENST00000482881.1 |
exon_skip_5950 | 1 | 46473967:46474043:46476401:46476611:46485267:46485369 | 46476401:46476611 | ENSG00000086015.16 | ENST00000361297.2,ENST00000372008.2 |
exon_skip_5952 | 1 | 46476401:46476611:46485267:46485369:46487621:46487754 | 46485267:46485369 | ENSG00000086015.16 | ENST00000361297.2,ENST00000372008.2 |
exon_skip_5954 | 1 | 46488904:46488990:46489443:46489652:46491348:46491487 | 46489443:46489652 | ENSG00000086015.16 | ENST00000361297.2,ENST00000372009.2,ENST00000372008.2 |
exon_skip_5955 | 1 | 46489443:46489652:46491348:46491487:46493402:46493535 | 46491348:46491487 | ENSG00000086015.16 | ENST00000361297.2,ENST00000372009.2,ENST00000372008.2 |
exon_skip_5957 | 1 | 46493402:46493535:46494439:46494605:46495137:46495239 | 46494439:46494605 | ENSG00000086015.16 | ENST00000361297.2,ENST00000372009.2,ENST00000372008.2 |
exon_skip_5961 | 1 | 46494439:46494605:46495137:46495239:46495502:46495625 | 46495137:46495239 | ENSG00000086015.16 | ENST00000361297.2,ENST00000372009.2,ENST00000372008.2 |
exon_skip_5962 | 1 | 46495137:46495239:46495502:46495625:46495800:46495910 | 46495502:46495625 | ENSG00000086015.16 | ENST00000361297.2,ENST00000372009.2,ENST00000372008.2,ENST00000477968.1 |
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 |
Q6P0Q8 | 326 | 396 | 327 | 396 | Alternative sequence | ID=VSP_051698;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q6P0Q8 | 326 | 396 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
Q6P0Q8 | 326 | 396 | 388 | 388 | Natural variant | ID=VAR_040773;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12117771,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs11211247,PMID:12117771,PMID:17344846 |
Q6P0Q8 | 396 | 430 | 327 | 396 | Alternative sequence | ID=VSP_051698;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q6P0Q8 | 396 | 430 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
Q6P0Q8 | 739 | 773 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
Q6P0Q8 | 739 | 773 | 512 | 785 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q6P0Q8 | 773 | 814 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
Q6P0Q8 | 773 | 814 | 512 | 785 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q6P0Q8 | 773 | 814 | 786 | 854 | Domain | Note=AGC-kinase C-terminal |
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 |
Q6P0Q8 | 326 | 396 | 327 | 396 | Alternative sequence | ID=VSP_051698;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q6P0Q8 | 326 | 396 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
Q6P0Q8 | 326 | 396 | 388 | 388 | Natural variant | ID=VAR_040773;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12117771,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs11211247,PMID:12117771,PMID:17344846 |
Q6P0Q8 | 396 | 430 | 327 | 396 | Alternative sequence | ID=VSP_051698;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q6P0Q8 | 396 | 430 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
Q6P0Q8 | 739 | 773 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
Q6P0Q8 | 739 | 773 | 512 | 785 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q6P0Q8 | 773 | 814 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
Q6P0Q8 | 773 | 814 | 512 | 785 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q6P0Q8 | 773 | 814 | 786 | 854 | Domain | Note=AGC-kinase C-terminal |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46463396 | 46463471 | 46463406 | 46463406 | Frame_Shift_Del | T | - | p.P201fs |
SNU1196_BILIARY_TRACT | 46476402 | 46476611 | 46476453 | 46476453 | Frame_Shift_Del | C | - | p.P344fs |
LS180_LARGE_INTESTINE | 46494440 | 46494605 | 46494559 | 46494559 | Frame_Shift_Del | T | - | p.P724fs |
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46494440 | 46494605 | 46494559 | 46494559 | Frame_Shift_Del | T | - | p.P724fs |
NCIH630_LARGE_INTESTINE | 46494440 | 46494605 | 46494559 | 46494559 | Frame_Shift_Del | T | - | p.P724fs |
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46495138 | 46495239 | 46495173 | 46495173 | Frame_Shift_Del | C | - | p.P753fs |
NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46425058 | 46425149 | 46425063 | 46425063 | Missense_Mutation | G | A | p.R169Q |
SNU175_LARGE_INTESTINE | 46425058 | 46425149 | 46425074 | 46425074 | Missense_Mutation | C | T | p.R173C |
MDAMB453_BREAST | 46425058 | 46425149 | 46425079 | 46425079 | Missense_Mutation | G | C | p.K174N |
KINGS1_CENTRAL_NERVOUS_SYSTEM | 46425058 | 46425149 | 46425120 | 46425120 | Missense_Mutation | G | A | p.R188Q |
HEC108_ENDOMETRIUM | 46425058 | 46425149 | 46425122 | 46425122 | Missense_Mutation | C | T | p.P189S |
CW2_LARGE_INTESTINE | 46463396 | 46463471 | 46463405 | 46463405 | Missense_Mutation | C | A | p.P201H |
HS618T_FIBROBLAST | 46476402 | 46476611 | 46476462 | 46476462 | Missense_Mutation | G | A | p.V347M |
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46476402 | 46476611 | 46476489 | 46476489 | Missense_Mutation | A | G | p.S356G |
SNU175_LARGE_INTESTINE | 46476402 | 46476611 | 46476489 | 46476489 | Missense_Mutation | A | C | p.S356R |
HT1197_URINARY_TRACT | 46476402 | 46476611 | 46476570 | 46476570 | Missense_Mutation | T | G | p.F383V |
T98G_CENTRAL_NERVOUS_SYSTEM | 46485268 | 46485369 | 46485292 | 46485292 | Missense_Mutation | G | A | p.E405K |
CAL851_BREAST | 46489444 | 46489652 | 46489476 | 46489476 | Missense_Mutation | G | A | p.R535Q |
MON_SOFT_TISSUE | 46491349 | 46491487 | 46491399 | 46491399 | Missense_Mutation | A | G | p.M611V |
SNUC2A_LARGE_INTESTINE | 46491349 | 46491487 | 46491405 | 46491405 | Missense_Mutation | C | T | p.R613C |
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46491349 | 46491487 | 46491405 | 46491405 | Missense_Mutation | C | T | p.R613C |
SNUC2B_LARGE_INTESTINE | 46491349 | 46491487 | 46491405 | 46491405 | Missense_Mutation | C | T | p.R613C |
JHUEM1_ENDOMETRIUM | 46491349 | 46491487 | 46491477 | 46491477 | Missense_Mutation | A | G | p.K637E |
KM12_LARGE_INTESTINE | 46494440 | 46494605 | 46494569 | 46494569 | Missense_Mutation | G | T | p.D728Y |
ME180_CERVIX | 46495503 | 46495625 | 46495539 | 46495539 | Missense_Mutation | C | T | p.T786I |
SF767_CENTRAL_NERVOUS_SYSTEM | 46495503 | 46495625 | 46495539 | 46495539 | Missense_Mutation | C | T | p.T786I |
TC71_BONE | 46495503 | 46495625 | 46495544 | 46495544 | Missense_Mutation | C | A | p.L788M |
MEWO_SKIN | 46495503 | 46495625 | 46495565 | 46495565 | Missense_Mutation | C | T | p.R795C |
G402_SOFT_TISSUE | 46485268 | 46485369 | 46485290 | 46485290 | Nonsense_Mutation | C | G | p.S404* |
NCIH3122_LUNG | 46495503 | 46495625 | 46495504 | 46495504 | Splice_Site | C | G | p.G774G |