|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for KNTC1 |
 Gene summary |
| Gene information | Gene symbol | KNTC1 | Gene ID | 9735 |
| Gene name | kinetochore associated 1 | |
| Synonyms | ROD | |
| Cytomap | 12q24.31 | |
| Type of gene | protein-coding | |
| Description | kinetochore-associated protein 1Rough Deal homolog, centromere/kinetochore protein | |
| Modification date | 20180522 | |
| UniProtAcc | P50748 | |
| Context | PubMed: KNTC1 [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 |
| KNTC1 | GO:0007093 | mitotic cell cycle checkpoint | 11146660 |
Top |
Exon skipping events across known transcript of Ensembl for KNTC1 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. |
 |
Top |
Gene isoform structures and expression levels for KNTC1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for KNTC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_88073 | 12 | 123011794:123011898:123014568:123014739:123019210:123019331 | 123014568:123014739 | ENSG00000184445.7 | ENST00000450485.2 |
| exon_skip_88074 | 12 | 123024222:123024301:123026596:123026674:123028146:123028181 | 123026596:123026674 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7 |
| exon_skip_88075 | 12 | 123026596:123026674:123028146:123028181:123028705:123028816 | 123028146:123028181 | ENSG00000184445.7 | ENST00000333479.7 |
| exon_skip_88076 | 12 | 123028146:123028181:123028705:123028816:123030722:123030816 | 123028705:123028816 | ENSG00000184445.7 | ENST00000333479.7 |
| exon_skip_88077 | 12 | 123031168:123031221:123031961:123032077:123032461:123032516 | 123031961:123032077 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7 |
| exon_skip_88078 | 12 | 123041930:123042056:123042146:123042236:123046467:123046521 | 123042146:123042236 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7 |
| exon_skip_88079 | 12 | 123047184:123047246:123052807:123052919:123054227:123054371 | 123052807:123052919 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7 |
| exon_skip_88081 | 12 | 123060089:123060193:123060346:123060446:123061441:123061576 | 123060346:123060446 | ENSG00000184445.7 | ENST00000333479.7 |
| exon_skip_88084 | 12 | 123065149:123065217:123067251:123067532:123068824:123068997 | 123067251:123067532 | ENSG00000184445.7 | ENST00000333479.7 |
| exon_skip_88085 | 12 | 123070182:123070321:123071247:123071304:123072257:123072421 | 123071247:123071304 | ENSG00000184445.7 | ENST00000333479.7 |
| exon_skip_88092 | 12 | 123078822:123078932:123082277:123082485:123086082:123086154 | 123082277:123082485 | ENSG00000184445.7 | ENST00000423927.2,ENST00000333479.7 |
| exon_skip_88101 | 12 | 123082277:123082485:123086082:123086172:123087115:123087191 | 123086082:123086172 | ENSG00000184445.7 | ENST00000377192.2,ENST00000333479.7 |
| exon_skip_88106 | 12 | 123086082:123086172:123087115:123087287:123087375:123087434 | 123087115:123087287 | ENSG00000184445.7 | ENST00000377192.2,ENST00000333479.7 |
| exon_skip_88109 | 12 | 123087115:123087287:123087375:123087434:123087573:123087790 | 123087375:123087434 | ENSG00000184445.7 | ENST00000377192.2,ENST00000537348.1,ENST00000436959.3,ENST00000333479.7 |
| exon_skip_88111 | 12 | 123095407:123095447:123097658:123097777:123098172:123098216 | 123097658:123097777 | ENSG00000184445.7 | ENST00000450485.2,ENST00000537348.1,ENST00000542727.1,ENST00000436959.3,ENST00000333479.7 |
| exon_skip_88114 | 12 | 123099537:123099633:123100016:123100073:123102889:123102944 | 123100016:123100073 | ENSG00000184445.7 | ENST00000546125.1,ENST00000450485.2,ENST00000539013.1,ENST00000333479.7,ENST00000541427.1 |
| exon_skip_88115 | 12 | 123100016:123100073:123101953:123102048:123102889:123102944 | 123101953:123102048 | ENSG00000184445.7 | ENST00000537348.1,ENST00000436959.3 |
| exon_skip_88116 | 12 | 123100016:123100073:123102889:123102944:123103028:123103084 | 123102889:123102944 | ENSG00000184445.7 | ENST00000546125.1,ENST00000450485.2,ENST00000333479.7,ENST00000541427.1 |
| exon_skip_88118 | 12 | 123103028:123103092:123105025:123105155:123106427:123106517 | 123105025:123105155 | ENSG00000184445.7 | ENST00000450485.2,ENST00000537348.1,ENST00000436959.3,ENST00000333479.7 |
| exon_skip_88119 | 12 | 123107008:123107154:123109144:123109235:123110751:123110879 | 123109144:123109235 | ENSG00000184445.7 | ENST00000450485.2,ENST00000537348.1,ENST00000534995.1,ENST00000436959.3,ENST00000333479.7 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for KNTC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_88073 | 12 | 123011794:123011898:123014568:123014739:123019210:123019331 | 123014568:123014739 | ENSG00000184445.7 | ENST00000450485.2 |
| exon_skip_88074 | 12 | 123024222:123024301:123026596:123026674:123028146:123028181 | 123026596:123026674 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7 |
| exon_skip_88075 | 12 | 123026596:123026674:123028146:123028181:123028705:123028816 | 123028146:123028181 | ENSG00000184445.7 | ENST00000333479.7 |
| exon_skip_88076 | 12 | 123028146:123028181:123028705:123028816:123030722:123030816 | 123028705:123028816 | ENSG00000184445.7 | ENST00000333479.7 |
| exon_skip_88077 | 12 | 123031168:123031221:123031961:123032077:123032461:123032516 | 123031961:123032077 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7 |
| exon_skip_88078 | 12 | 123041930:123042056:123042146:123042236:123046467:123046521 | 123042146:123042236 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7 |
| exon_skip_88079 | 12 | 123047184:123047246:123052807:123052919:123054227:123054371 | 123052807:123052919 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7 |
| exon_skip_88081 | 12 | 123060089:123060193:123060346:123060446:123061441:123061576 | 123060346:123060446 | ENSG00000184445.7 | ENST00000333479.7 |
| exon_skip_88084 | 12 | 123065149:123065217:123067251:123067532:123068824:123068997 | 123067251:123067532 | ENSG00000184445.7 | ENST00000333479.7 |
| exon_skip_88085 | 12 | 123070182:123070321:123071247:123071304:123072257:123072421 | 123071247:123071304 | ENSG00000184445.7 | ENST00000333479.7 |
| exon_skip_88092 | 12 | 123078822:123078932:123082277:123082485:123086082:123086154 | 123082277:123082485 | ENSG00000184445.7 | ENST00000333479.7,ENST00000423927.2 |
| exon_skip_88101 | 12 | 123082277:123082485:123086082:123086172:123087115:123087191 | 123086082:123086172 | ENSG00000184445.7 | ENST00000333479.7,ENST00000377192.2 |
| exon_skip_88109 | 12 | 123087115:123087287:123087375:123087434:123087573:123087790 | 123087375:123087434 | ENSG00000184445.7 | ENST00000333479.7,ENST00000377192.2,ENST00000436959.3,ENST00000537348.1 |
| exon_skip_88111 | 12 | 123095407:123095447:123097658:123097777:123098172:123098216 | 123097658:123097777 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7,ENST00000436959.3,ENST00000537348.1,ENST00000542727.1 |
| exon_skip_88114 | 12 | 123099537:123099633:123100016:123100073:123102889:123102944 | 123100016:123100073 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7,ENST00000546125.1,ENST00000539013.1,ENST00000541427.1 |
| exon_skip_88115 | 12 | 123100016:123100073:123101953:123102048:123102889:123102944 | 123101953:123102048 | ENSG00000184445.7 | ENST00000436959.3,ENST00000537348.1 |
| exon_skip_88116 | 12 | 123100016:123100073:123102889:123102944:123103028:123103084 | 123102889:123102944 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7,ENST00000546125.1,ENST00000541427.1 |
| exon_skip_88118 | 12 | 123103028:123103092:123105025:123105155:123106427:123106517 | 123105025:123105155 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7,ENST00000436959.3,ENST00000537348.1 |
| exon_skip_88119 | 12 | 123107008:123107154:123109144:123109235:123110751:123110879 | 123109144:123109235 | ENSG00000184445.7 | ENST00000450485.2,ENST00000333479.7,ENST00000436959.3,ENST00000537348.1,ENST00000534995.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for KNTC1 |
| 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 |
| ENST00000333479 | 123028146 | 123028181 | Frame-shift |
| ENST00000333479 | 123031961 | 123032077 | Frame-shift |
| ENST00000333479 | 123052807 | 123052919 | Frame-shift |
| ENST00000333479 | 123060346 | 123060446 | Frame-shift |
| ENST00000333479 | 123067251 | 123067532 | Frame-shift |
| ENST00000333479 | 123082277 | 123082485 | Frame-shift |
| ENST00000333479 | 123087115 | 123087287 | Frame-shift |
| ENST00000333479 | 123087375 | 123087434 | Frame-shift |
| ENST00000333479 | 123097658 | 123097777 | Frame-shift |
| ENST00000333479 | 123102889 | 123102944 | Frame-shift |
| ENST00000333479 | 123105025 | 123105155 | Frame-shift |
| ENST00000333479 | 123109144 | 123109235 | Frame-shift |
| ENST00000333479 | 123026596 | 123026674 | In-frame |
| ENST00000333479 | 123028705 | 123028816 | In-frame |
| ENST00000333479 | 123042146 | 123042236 | In-frame |
| ENST00000333479 | 123071247 | 123071304 | In-frame |
| ENST00000333479 | 123086082 | 123086172 | In-frame |
| ENST00000333479 | 123100016 | 123100073 | 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 |
| ENST00000333479 | 123028146 | 123028181 | Frame-shift |
| ENST00000333479 | 123031961 | 123032077 | Frame-shift |
| ENST00000333479 | 123052807 | 123052919 | Frame-shift |
| ENST00000333479 | 123060346 | 123060446 | Frame-shift |
| ENST00000333479 | 123067251 | 123067532 | Frame-shift |
| ENST00000333479 | 123082277 | 123082485 | Frame-shift |
| ENST00000333479 | 123087375 | 123087434 | Frame-shift |
| ENST00000333479 | 123097658 | 123097777 | Frame-shift |
| ENST00000333479 | 123102889 | 123102944 | Frame-shift |
| ENST00000333479 | 123105025 | 123105155 | Frame-shift |
| ENST00000333479 | 123109144 | 123109235 | Frame-shift |
| ENST00000333479 | 123026596 | 123026674 | In-frame |
| ENST00000333479 | 123028705 | 123028816 | In-frame |
| ENST00000333479 | 123042146 | 123042236 | In-frame |
| ENST00000333479 | 123071247 | 123071304 | In-frame |
| ENST00000333479 | 123086082 | 123086172 | In-frame |
| ENST00000333479 | 123100016 | 123100073 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for KNTC1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000333479 | 6992 | 2209 | 123026596 | 123026674 | 623 | 700 | 148 | 174 |
| ENST00000333479 | 6992 | 2209 | 123028705 | 123028816 | 736 | 846 | 186 | 223 |
| ENST00000333479 | 6992 | 2209 | 123042146 | 123042236 | 1576 | 1665 | 466 | 496 |
| ENST00000333479 | 6992 | 2209 | 123071247 | 123071304 | 3851 | 3907 | 1224 | 1243 |
| ENST00000333479 | 6992 | 2209 | 123086082 | 123086172 | 4741 | 4830 | 1521 | 1551 |
| ENST00000333479 | 6992 | 2209 | 123100016 | 123100073 | 6151 | 6207 | 1991 | 2010 |
| 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 |
| ENST00000333479 | 6992 | 2209 | 123026596 | 123026674 | 623 | 700 | 148 | 174 |
| ENST00000333479 | 6992 | 2209 | 123028705 | 123028816 | 736 | 846 | 186 | 223 |
| ENST00000333479 | 6992 | 2209 | 123042146 | 123042236 | 1576 | 1665 | 466 | 496 |
| ENST00000333479 | 6992 | 2209 | 123071247 | 123071304 | 3851 | 3907 | 1224 | 1243 |
| ENST00000333479 | 6992 | 2209 | 123086082 | 123086172 | 4741 | 4830 | 1521 | 1551 |
| ENST00000333479 | 6992 | 2209 | 123100016 | 123100073 | 6151 | 6207 | 1991 | 2010 |
| 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 |
| P50748 | 148 | 174 | 1 | 1575 | Alternative sequence | ID=VSP_057013;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P50748 | 148 | 174 | 1 | 2209 | Chain | ID=PRO_0000084312;Note=Kinetochore-associated protein 1 |
| P50748 | 186 | 223 | 1 | 1575 | Alternative sequence | ID=VSP_057013;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P50748 | 186 | 223 | 1 | 2209 | Chain | ID=PRO_0000084312;Note=Kinetochore-associated protein 1 |
| P50748 | 466 | 496 | 1 | 1575 | Alternative sequence | ID=VSP_057013;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P50748 | 466 | 496 | 1 | 2209 | Chain | ID=PRO_0000084312;Note=Kinetochore-associated protein 1 |
| P50748 | 1224 | 1243 | 1 | 1575 | Alternative sequence | ID=VSP_057013;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P50748 | 1224 | 1243 | 1 | 2209 | Chain | ID=PRO_0000084312;Note=Kinetochore-associated protein 1 |
| P50748 | 1521 | 1551 | 1 | 1575 | Alternative sequence | ID=VSP_057013;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P50748 | 1521 | 1551 | 1 | 2209 | Chain | ID=PRO_0000084312;Note=Kinetochore-associated protein 1 |
| P50748 | 1991 | 2010 | 1 | 2209 | Chain | ID=PRO_0000084312;Note=Kinetochore-associated protein 1 |
| 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 |
| P50748 | 148 | 174 | 1 | 1575 | Alternative sequence | ID=VSP_057013;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P50748 | 148 | 174 | 1 | 2209 | Chain | ID=PRO_0000084312;Note=Kinetochore-associated protein 1 |
| P50748 | 186 | 223 | 1 | 1575 | Alternative sequence | ID=VSP_057013;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P50748 | 186 | 223 | 1 | 2209 | Chain | ID=PRO_0000084312;Note=Kinetochore-associated protein 1 |
| P50748 | 466 | 496 | 1 | 1575 | Alternative sequence | ID=VSP_057013;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P50748 | 466 | 496 | 1 | 2209 | Chain | ID=PRO_0000084312;Note=Kinetochore-associated protein 1 |
| P50748 | 1224 | 1243 | 1 | 1575 | Alternative sequence | ID=VSP_057013;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P50748 | 1224 | 1243 | 1 | 2209 | Chain | ID=PRO_0000084312;Note=Kinetochore-associated protein 1 |
| P50748 | 1521 | 1551 | 1 | 1575 | Alternative sequence | ID=VSP_057013;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P50748 | 1521 | 1551 | 1 | 2209 | Chain | ID=PRO_0000084312;Note=Kinetochore-associated protein 1 |
| P50748 | 1991 | 2010 | 1 | 2209 | Chain | ID=PRO_0000084312;Note=Kinetochore-associated protein 1 |
Top |
SNVs in the skipped exons for KNTC1 |
| - 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. |
| - 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_88073 | 123014569 | 123014739 | 123014679 | 123014679 | Frame_Shift_Del | A | - | p.R23fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_88074 | 123026597 | 123026674 | 123026632 | 123026632 | Frame_Shift_Del | T | - | p.F162fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_88074 | 123026597 | 123026674 | 123026632 | 123026632 | Frame_Shift_Del | T | - | p.F162fs |
| KIRC | TCGA-CZ-5451-01 | exon_skip_88076 | 123028706 | 123028816 | 123028814 | 123028814 | Frame_Shift_Del | G | - | p.I222fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_88078 | 123042147 | 123042236 | 123042199 | 123042199 | Frame_Shift_Del | A | - | p.E484fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_88078 | 123042147 | 123042236 | 123042226 | 123042226 | Frame_Shift_Del | C | - | p.A493fs |
| STAD | TCGA-B7-A5TI-01 | exon_skip_88079 | 123052808 | 123052919 | 123052858 | 123052858 | Frame_Shift_Del | T | - | p.I552fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_88081 | 123060347 | 123060446 | 123060394 | 123060394 | Frame_Shift_Del | T | - | p.L846fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_88084 | 123067252 | 123067532 | 123067494 | 123067494 | Frame_Shift_Del | A | - | p.L1075fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_88084 | 123067252 | 123067532 | 123067494 | 123067494 | Frame_Shift_Del | A | - | p.L1075fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_88084 | 123067252 | 123067532 | 123067494 | 123067494 | Frame_Shift_Del | A | - | p.L1075fs |
| BLCA | TCGA-GU-A767-01 | exon_skip_88106 | 123087116 | 123087287 | 123087221 | 123087222 | Frame_Shift_Del | GC | - | p.A1587fs |
| STAD | TCGA-D7-A4YY-01 | exon_skip_88075 | 123028147 | 123028181 | 123028174 | 123028175 | Frame_Shift_Ins | - | A | p.A184fs |
| UCEC | TCGA-AP-A0LE-01 | exon_skip_88079 | 123052808 | 123052919 | 123052857 | 123052858 | Frame_Shift_Ins | - | T | p.I552fs |
| HNSC | TCGA-CV-7099-01 | exon_skip_88116 | 123102890 | 123102944 | 123102942 | 123102942 | Nonsense_Mutation | C | G | p.S2028* |
| COAD | TCGA-AM-5820-01 | exon_skip_88077 | 123031962 | 123032077 | 123032079 | 123032079 | Splice_Site | T | C | . |
| STAD | TCGA-HU-A4H3-01 | exon_skip_88081 | 123060347 | 123060446 | 123060345 | 123060345 | Splice_Site | A | G | p.K829_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 |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123014569 | 123014739 | 123014726 | 123014727 | Frame_Shift_Del | TC | - | p.I39fs |
| HEC108_ENDOMETRIUM | 123028147 | 123028181 | 123028175 | 123028175 | Frame_Shift_Del | A | - | p.A184fs |
| HEC59_ENDOMETRIUM | 123052808 | 123052919 | 123052858 | 123052858 | Frame_Shift_Del | T | - | p.I552fs |
| RKO_LARGE_INTESTINE | 123052808 | 123052919 | 123052858 | 123052858 | Frame_Shift_Del | T | - | p.I552fs |
| AN3CA_ENDOMETRIUM | 123052808 | 123052919 | 123052858 | 123052858 | Frame_Shift_Del | T | - | p.I552fs |
| HCC1569_BREAST | 123052808 | 123052919 | 123052858 | 123052858 | Frame_Shift_Del | T | - | p.I552fs |
| JHUEM1_ENDOMETRIUM | 123052808 | 123052919 | 123052858 | 123052858 | Frame_Shift_Del | T | - | p.I552fs |
| NCIH630_LARGE_INTESTINE | 123052808 | 123052919 | 123052858 | 123052858 | Frame_Shift_Del | T | - | p.I552fs |
| RDES_BONE | 123028147 | 123028181 | 123028174 | 123028175 | Frame_Shift_Ins | - | A | p.AK184fs |
| HEC6_ENDOMETRIUM | 123052808 | 123052919 | 123052857 | 123052858 | Frame_Shift_Ins | - | T | p.I552fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123082278 | 123082485 | 123082340 | 123082341 | Frame_Shift_Ins | - | A | p.N1474fs |
| IM95_STOMACH | 123097659 | 123097777 | 123097760 | 123097761 | Frame_Shift_Ins | - | C | p.P1909fs |
| RH30_SOFT_TISSUE | 123014569 | 123014739 | 123014639 | 123014639 | Missense_Mutation | A | T | p.N10I |
| LOVO_LARGE_INTESTINE | 123014569 | 123014739 | 123014663 | 123014663 | Missense_Mutation | T | C | p.L18P |
| HGC27_STOMACH | 123028147 | 123028181 | 123028152 | 123028152 | Missense_Mutation | G | C | p.E177Q |
| JHOS4_OVARY | 123028706 | 123028816 | 123028758 | 123028758 | Missense_Mutation | T | C | p.L204P |
| SNU1040_LARGE_INTESTINE | 123031962 | 123032077 | 123031966 | 123031966 | Missense_Mutation | T | C | p.V274A |
| HCC1359_LUNG | 123031962 | 123032077 | 123031999 | 123031999 | Missense_Mutation | C | T | p.P285L |
| IM95_STOMACH | 123031962 | 123032077 | 123032074 | 123032074 | Missense_Mutation | C | T | p.T310M |
| COV318_OVARY | 123042147 | 123042236 | 123042219 | 123042219 | Missense_Mutation | A | G | p.N491D |
| HEC59_ENDOMETRIUM | 123042147 | 123042236 | 123042220 | 123042220 | Missense_Mutation | A | T | p.N491I |
| HEC251_ENDOMETRIUM | 123060347 | 123060446 | 123060391 | 123060391 | Missense_Mutation | A | C | p.K844T |
| C32_SKIN | 123060347 | 123060446 | 123060409 | 123060409 | Missense_Mutation | G | A | p.G850E |
| NCIH1836_LUNG | 123060347 | 123060446 | 123060435 | 123060435 | Missense_Mutation | A | G | p.K859E |
| SH4_SKIN | 123060347 | 123060446 | 123060435 | 123060435 | Missense_Mutation | A | G | p.K859E |
| UW228_CENTRAL_NERVOUS_SYSTEM | 123067252 | 123067532 | 123067274 | 123067274 | Missense_Mutation | C | T | p.S1002L |
| NUGC4_STOMACH | 123067252 | 123067532 | 123067292 | 123067292 | Missense_Mutation | A | T | p.N1008I |
| DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123067252 | 123067532 | 123067362 | 123067362 | Missense_Mutation | A | T | p.K1031N |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123067252 | 123067532 | 123067449 | 123067449 | Missense_Mutation | G | C | p.Q1060H |
| SLR24_KIDNEY | 123071248 | 123071304 | 123071250 | 123071250 | Missense_Mutation | A | G | p.S1226G |
| NCIH2286_LUNG | 123082278 | 123082485 | 123082408 | 123082408 | Missense_Mutation | G | T | p.A1496S |
| JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123082278 | 123082485 | 123082457 | 123082458 | Missense_Mutation | TC | GT | p.V1512G |
| TE14_OESOPHAGUS | 123086083 | 123086172 | 123086095 | 123086095 | Missense_Mutation | G | A | p.D1526N |
| DV90_LUNG | 123086083 | 123086172 | 123086114 | 123086114 | Missense_Mutation | T | A | p.V1532D |
| GBM001_CENTRAL_NERVOUS_SYSTEM | 123086083 | 123086172 | 123086128 | 123086128 | Missense_Mutation | A | C | p.I1537L |
| 22RV1_PROSTATE | 123086083 | 123086172 | 123086128 | 123086128 | Missense_Mutation | A | C | p.I1537L |
| MDAPCA2B_PROSTATE | 123086083 | 123086172 | 123086135 | 123086135 | Missense_Mutation | G | A | p.R1539Q |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123087116 | 123087287 | 123087227 | 123087227 | Missense_Mutation | A | T | p.T1589S |
| YAMATO_SOFT_TISSUE | 123087376 | 123087434 | 123087421 | 123087421 | Missense_Mutation | C | T | p.S1624L |
| SH10TC_STOMACH | 123097659 | 123097777 | 123097720 | 123097720 | Missense_Mutation | A | G | p.Y1895C |
| CORL311_LUNG | 123102890 | 123102944 | 123102918 | 123102918 | Missense_Mutation | G | A | p.R2020H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123105026 | 123105155 | 123105132 | 123105132 | Missense_Mutation | G | A | p.E2086K |
| HCT15_LARGE_INTESTINE | 123109145 | 123109235 | 123109156 | 123109156 | Missense_Mutation | C | A | p.A2176D |
| HMC18_BREAST | 123067252 | 123067532 | 123067474 | 123067474 | Nonsense_Mutation | G | T | p.E1069* |
| KMH2_THYROID | 123105026 | 123105155 | 123105130 | 123105130 | Nonsense_Mutation | C | A | p.S2085* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KNTC1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KNTC1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KNTC1 |
Top |
RelatedDrugs for KNTC1 |
| 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 |
Top |
RelatedDiseases for KNTC1 |
| 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)
|