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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 CNTROB |
Gene summary |
Gene information | Gene symbol | CNTROB | Gene ID | 116840 |
Gene name | centrobin, centriole duplication and spindle assembly protein | |
Synonyms | LIP8|PP1221 | |
Cytomap | 17p13.1 | |
Type of gene | protein-coding | |
Description | centrobinLYST-interacting protein 8LYST-interacting protein LIP8centrobin, centrosomal BRCA2 interacting proteincentrosomal BRCA2-interacting protein | |
Modification date | 20180523 | |
UniProtAcc | Q8N137 | |
Context | PubMed: CNTROB [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 CNTROB 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 CNTROB |
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 CNTROB |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_148973 | 17 | 7837846:7837864:7838236:7838463:7839683:7839800 | 7838236:7838463 | ENSG00000170037.9 | ENST00000571632.1 |
exon_skip_148975 | 17 | 7837846:7837864:7838306:7838463:7839683:7839800 | 7838306:7838463 | ENSG00000170037.9 | ENST00000380255.3,ENST00000575408.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 |
exon_skip_148978 | 17 | 7840018:7840135:7840481:7840580:7842830:7843021 | 7840481:7840580 | ENSG00000170037.9 | ENST00000380255.3,ENST00000571540.1,ENST00000571632.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 |
exon_skip_148983 | 17 | 7846708:7846842:7847440:7847566:7847793:7847956 | 7847440:7847566 | ENSG00000170037.9 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENSG00000170037.9 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENSG00000170037.9 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 |
exon_skip_148990 | 17 | 7849045:7849304:7850888:7851040:7851233:7851297 | 7850888:7851040 | ENSG00000170037.9 | ENST00000380255.3,ENST00000576723.1,ENST00000571632.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 |
exon_skip_148992 | 17 | 7851233:7851297:7851474:7851645:7851804:7851933 | 7851474:7851645 | ENSG00000170037.9 | ENST00000380255.3,ENST00000576723.1,ENST00000571632.1,ENST00000576536.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 |
exon_skip_148994 | 17 | 7851474:7851645:7851804:7851937:7852402:7852455 | 7851804:7851937 | ENSG00000170037.9 | ENST00000380255.3,ENST00000576536.1,ENST00000563694.1 |
exon_skip_148996 | 17 | 7851474:7851645:7851804:7852003:7852402:7852455 | 7851804:7852003 | ENSG00000170037.9 | ENST00000380262.3 |
exon_skip_148998 | 17 | 7851804:7851937:7852399:7852475:7852702:7852743 | 7852399:7852475 | ENSG00000170037.9 | ENST00000565740.1 |
exon_skip_148999 | 17 | 7851804:7851937:7852402:7852455:7852702:7852743 | 7852402:7852455 | ENSG00000170037.9 | ENST00000576536.1 |
exon_skip_149000 | 17 | 7851804:7851937:7852402:7852475:7852702:7852743 | 7852402:7852475 | ENSG00000170037.9 | ENST00000380255.3,ENST00000563694.1 |
exon_skip_149003 | 17 | 7851804:7852003:7852402:7852475:7852702:7852743 | 7852402:7852475 | ENSG00000170037.9 | ENST00000380262.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CNTROB |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_148973 | 17 | 7837846:7837864:7838236:7838463:7839683:7839800 | 7838236:7838463 | ENSG00000170037.9 | ENST00000571632.1 |
exon_skip_148975 | 17 | 7837846:7837864:7838306:7838463:7839683:7839800 | 7838306:7838463 | ENSG00000170037.9 | ENST00000380262.3,ENST00000563694.1,ENST00000380255.3,ENST00000575408.1,ENST00000565740.1 |
exon_skip_148978 | 17 | 7840018:7840135:7840481:7840580:7842830:7843021 | 7840481:7840580 | ENSG00000170037.9 | ENST00000380262.3,ENST00000563694.1,ENST00000380255.3,ENST00000565740.1,ENST00000571540.1,ENST00000571632.1 |
exon_skip_148983 | 17 | 7846708:7846842:7847440:7847566:7847793:7847956 | 7847440:7847566 | ENSG00000170037.9 | ENST00000380262.3,ENST00000563694.1,ENST00000565740.1,ENST00000576723.1 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENSG00000170037.9 | ENST00000380262.3,ENST00000563694.1,ENST00000565740.1,ENST00000576723.1 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENSG00000170037.9 | ENST00000380262.3,ENST00000563694.1,ENST00000565740.1,ENST00000576922.1,ENST00000576723.1 |
exon_skip_148990 | 17 | 7849045:7849304:7850888:7851040:7851233:7851297 | 7850888:7851040 | ENSG00000170037.9 | ENST00000380262.3,ENST00000563694.1,ENST00000380255.3,ENST00000565740.1,ENST00000571632.1,ENST00000576723.1 |
exon_skip_148992 | 17 | 7851233:7851297:7851474:7851645:7851804:7851933 | 7851474:7851645 | ENSG00000170037.9 | ENST00000380262.3,ENST00000563694.1,ENST00000380255.3,ENST00000565740.1,ENST00000571632.1,ENST00000576723.1,ENST00000576536.1 |
exon_skip_148994 | 17 | 7851474:7851645:7851804:7851937:7852402:7852455 | 7851804:7851937 | ENSG00000170037.9 | ENST00000563694.1,ENST00000380255.3,ENST00000576536.1 |
exon_skip_148996 | 17 | 7851474:7851645:7851804:7852003:7852402:7852455 | 7851804:7852003 | ENSG00000170037.9 | ENST00000380262.3 |
exon_skip_148998 | 17 | 7851804:7851937:7852399:7852475:7852702:7852743 | 7852399:7852475 | ENSG00000170037.9 | ENST00000565740.1 |
exon_skip_148999 | 17 | 7851804:7851937:7852402:7852455:7852702:7852743 | 7852402:7852455 | ENSG00000170037.9 | ENST00000576536.1 |
exon_skip_149000 | 17 | 7851804:7851937:7852402:7852475:7852702:7852743 | 7852402:7852475 | ENSG00000170037.9 | ENST00000563694.1,ENST00000380255.3 |
exon_skip_149003 | 17 | 7851804:7852003:7852402:7852475:7852702:7852743 | 7852402:7852475 | ENSG00000170037.9 | ENST00000380262.3 |
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 CNTROB |
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 |
ENST00000563694 | 7838306 | 7838463 | Frame-shift |
ENST00000563694 | 7847793 | 7847956 | Frame-shift |
ENST00000563694 | 7849045 | 7849304 | Frame-shift |
ENST00000563694 | 7850888 | 7851040 | Frame-shift |
ENST00000563694 | 7851804 | 7851937 | Frame-shift |
ENST00000563694 | 7852402 | 7852475 | Frame-shift |
ENST00000563694 | 7840481 | 7840580 | In-frame |
ENST00000563694 | 7847440 | 7847566 | In-frame |
ENST00000563694 | 7851474 | 7851645 | 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 |
ENST00000563694 | 7838306 | 7838463 | Frame-shift |
ENST00000563694 | 7847793 | 7847956 | Frame-shift |
ENST00000563694 | 7849045 | 7849304 | Frame-shift |
ENST00000563694 | 7850888 | 7851040 | Frame-shift |
ENST00000563694 | 7851804 | 7851937 | Frame-shift |
ENST00000563694 | 7852402 | 7852475 | Frame-shift |
ENST00000563694 | 7840481 | 7840580 | In-frame |
ENST00000563694 | 7847440 | 7847566 | In-frame |
ENST00000563694 | 7851474 | 7851645 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CNTROB |
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 |
ENST00000563694 | 3722 | 903 | 7840481 | 7840580 | 1754 | 1852 | 276 | 309 |
ENST00000563694 | 3722 | 903 | 7847440 | 7847566 | 2371 | 2496 | 482 | 523 |
ENST00000563694 | 3722 | 903 | 7851474 | 7851645 | 3135 | 3305 | 736 | 793 |
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 |
ENST00000563694 | 3722 | 903 | 7840481 | 7840580 | 1754 | 1852 | 276 | 309 |
ENST00000563694 | 3722 | 903 | 7847440 | 7847566 | 2371 | 2496 | 482 | 523 |
ENST00000563694 | 3722 | 903 | 7851474 | 7851645 | 3135 | 3305 | 736 | 793 |
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 |
Q8N137 | 276 | 309 | 1 | 903 | Chain | ID=PRO_0000076240;Note=Centrobin |
Q8N137 | 276 | 309 | 196 | 560 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N137 | 482 | 523 | 1 | 903 | Chain | ID=PRO_0000076240;Note=Centrobin |
Q8N137 | 482 | 523 | 196 | 560 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N137 | 482 | 523 | 365 | 903 | Region | Note=Required for centrosome localization |
Q8N137 | 736 | 793 | 555 | 903 | Alternative sequence | ID=VSP_016837;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
Q8N137 | 736 | 793 | 1 | 903 | Chain | ID=PRO_0000076240;Note=Centrobin |
Q8N137 | 736 | 793 | 573 | 777 | Compositional bias | Note=Pro-rich |
Q8N137 | 736 | 793 | 790 | 790 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q8N137 | 736 | 793 | 365 | 903 | Region | Note=Required for centrosome localization |
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 |
Q8N137 | 276 | 309 | 1 | 903 | Chain | ID=PRO_0000076240;Note=Centrobin |
Q8N137 | 276 | 309 | 196 | 560 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N137 | 482 | 523 | 1 | 903 | Chain | ID=PRO_0000076240;Note=Centrobin |
Q8N137 | 482 | 523 | 196 | 560 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8N137 | 482 | 523 | 365 | 903 | Region | Note=Required for centrosome localization |
Q8N137 | 736 | 793 | 555 | 903 | Alternative sequence | ID=VSP_016837;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
Q8N137 | 736 | 793 | 1 | 903 | Chain | ID=PRO_0000076240;Note=Centrobin |
Q8N137 | 736 | 793 | 573 | 777 | Compositional bias | Note=Pro-rich |
Q8N137 | 736 | 793 | 790 | 790 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q8N137 | 736 | 793 | 365 | 903 | Region | Note=Required for centrosome localization |
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SNVs in the skipped exons for CNTROB |
- 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-G3-A3CJ-01 | exon_skip_148990 | 7850889 | 7851040 | 7850891 | 7850891 | Frame_Shift_Del | G | - | p.G666fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_148990 | 7850889 | 7851040 | 7850917 | 7850917 | Frame_Shift_Del | C | - | p.F674fs |
STAD | TCGA-CD-A48C-01 | exon_skip_148992 | 7851475 | 7851645 | 7851480 | 7851483 | Frame_Shift_Del | CTGA | - | p.738_739del |
STAD | TCGA-CD-A48C-01 | exon_skip_148992 | 7851475 | 7851645 | 7851480 | 7851483 | Frame_Shift_Del | CTGA | - | p.P738fs |
LIHC | TCGA-RG-A7D4-01 | exon_skip_148994 | 7851805 | 7851937 | 7851880 | 7851898 | Frame_Shift_Del | GGGGGGCTCTGCCTGCTGA | - | p.819_825del |
LIHC | TCGA-RG-A7D4-01 | exon_skip_148994 | 7851805 | 7851937 | 7851880 | 7851898 | Frame_Shift_Del | GGGGGGCTCTGCCTGCTGA | - | p.WGALPAE819fs |
LIHC | TCGA-RG-A7D4-01 | exon_skip_148996 | 7851805 | 7852003 | 7851880 | 7851898 | Frame_Shift_Del | GGGGGGCTCTGCCTGCTGA | - | p.819_825del |
LIHC | TCGA-RG-A7D4-01 | exon_skip_148996 | 7851805 | 7852003 | 7851880 | 7851898 | Frame_Shift_Del | GGGGGGCTCTGCCTGCTGA | - | p.WGALPAE819fs |
STAD | TCGA-HU-A4GT-01 | exon_skip_148994 | 7851805 | 7851937 | 7851880 | 7851880 | Frame_Shift_Del | G | - | p.W819fs |
STAD | TCGA-HU-A4GT-01 | exon_skip_148996 | 7851805 | 7852003 | 7851880 | 7851880 | Frame_Shift_Del | G | - | p.W819fs |
BRCA | TCGA-D8-A1XY-01 | exon_skip_148983 | 7847441 | 7847566 | 7847523 | 7847523 | Nonsense_Mutation | C | T | p.R510* |
COAD | TCGA-AZ-4615-01 | exon_skip_148983 | 7847441 | 7847566 | 7847523 | 7847523 | Nonsense_Mutation | C | T | p.R510X |
HNSC | TCGA-CR-7399-01 | exon_skip_148992 | 7851475 | 7851645 | 7851510 | 7851510 | Nonsense_Mutation | C | T | p.Q749* |
LUSC | TCGA-66-2800-01 | exon_skip_148978 | 7840482 | 7840580 | 7840481 | 7840481 | Splice_Site | G | A | p.T277_splice |
HNSC | TCGA-D6-6516-01 | exon_skip_148987 | 7849046 | 7849304 | 7849045 | 7849046 | Splice_Site | GG | AA | p.A579_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 |
RH30_SOFT_TISSUE | 7849046 | 7849304 | 7849127 | 7849140 | Frame_Shift_Del | GCCGTGGCCCTGAA | - | p.AVALK606fs |
LN382_CENTRAL_NERVOUS_SYSTEM | 7849046 | 7849304 | 7849243 | 7849244 | Frame_Shift_Del | TT | - | p.F645fs |
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7851805 | 7851937 | 7851880 | 7851880 | Frame_Shift_Del | G | - | p.W819fs |
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7851805 | 7852003 | 7851880 | 7851880 | Frame_Shift_Del | G | - | p.W819fs |
DOV13_OVARY | 7838307 | 7838463 | 7838356 | 7838356 | Missense_Mutation | G | C | p.E163Q |
DOV13_OVARY | 7838237 | 7838463 | 7838356 | 7838356 | Missense_Mutation | G | C | p.E163Q |
HS294T_SKIN | 7838307 | 7838463 | 7838356 | 7838356 | Missense_Mutation | G | C | p.E163Q |
HS294T_SKIN | 7838237 | 7838463 | 7838356 | 7838356 | Missense_Mutation | G | C | p.E163Q |
HT115_LARGE_INTESTINE | 7838307 | 7838463 | 7838386 | 7838386 | Missense_Mutation | C | T | p.R173W |
HT115_LARGE_INTESTINE | 7838237 | 7838463 | 7838386 | 7838386 | Missense_Mutation | C | T | p.R173W |
HSC2_UPPER_AERODIGESTIVE_TRACT | 7838307 | 7838463 | 7838405 | 7838405 | Missense_Mutation | A | G | p.N179S |
HSC2_UPPER_AERODIGESTIVE_TRACT | 7838237 | 7838463 | 7838405 | 7838405 | Missense_Mutation | A | G | p.N179S |
HT1376_URINARY_TRACT | 7840482 | 7840580 | 7840507 | 7840507 | Missense_Mutation | T | G | p.L285R |
CAL851_BREAST | 7840482 | 7840580 | 7840520 | 7840520 | Missense_Mutation | G | A | p.M289I |
HEC1B_ENDOMETRIUM | 7840482 | 7840580 | 7840525 | 7840525 | Missense_Mutation | C | T | p.A291V |
HCT15_LARGE_INTESTINE | 7840482 | 7840580 | 7840551 | 7840551 | Missense_Mutation | A | G | p.R300G |
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7840482 | 7840580 | 7840563 | 7840563 | Missense_Mutation | C | T | p.R304W |
HCC1187_BREAST | 7847794 | 7847956 | 7847801 | 7847801 | Missense_Mutation | C | T | p.R527W |
HEC59_ENDOMETRIUM | 7847794 | 7847956 | 7847851 | 7847851 | Missense_Mutation | G | T | p.E543D |
SNU520_STOMACH | 7847794 | 7847956 | 7847859 | 7847859 | Missense_Mutation | G | A | p.R546Q |
HT144_SKIN | 7847794 | 7847956 | 7847900 | 7847900 | Missense_Mutation | C | T | p.H560Y |
LS411N_LARGE_INTESTINE | 7847794 | 7847956 | 7847924 | 7847924 | Missense_Mutation | C | A | p.L568I |
JHH1_LIVER | 7847794 | 7847956 | 7847930 | 7847930 | Missense_Mutation | A | G | p.T570A |
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7849046 | 7849304 | 7849076 | 7849076 | Missense_Mutation | C | T | p.P589S |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7849046 | 7849304 | 7849206 | 7849206 | Missense_Mutation | G | A | p.S632N |
HOP62_LUNG | 7850889 | 7851040 | 7850908 | 7850909 | Missense_Mutation | TG | CT | p.G672W |
HOP62_LUNG | 7850889 | 7851040 | 7850909 | 7850909 | Missense_Mutation | G | T | p.G672W |
MELJUSO_SKIN | 7850889 | 7851040 | 7850948 | 7850948 | Missense_Mutation | C | G | p.P685A |
RL952_ENDOMETRIUM | 7850889 | 7851040 | 7851002 | 7851002 | Missense_Mutation | C | T | p.P703S |
SNU1040_LARGE_INTESTINE | 7851475 | 7851645 | 7851562 | 7851562 | Missense_Mutation | T | C | p.M766T |
EN_ENDOMETRIUM | 7851475 | 7851645 | 7851580 | 7851580 | Missense_Mutation | G | T | p.R772L |
RL952_ENDOMETRIUM | 7851475 | 7851645 | 7851586 | 7851586 | Missense_Mutation | C | T | p.P774L |
HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7851475 | 7851645 | 7851621 | 7851621 | Missense_Mutation | C | T | p.P786S |
HEC108_ENDOMETRIUM | 7852400 | 7852475 | 7852408 | 7852408 | Missense_Mutation | A | G | p.D840G |
HEC108_ENDOMETRIUM | 7852403 | 7852455 | 7852408 | 7852408 | Missense_Mutation | A | G | p.D840G |
HEC108_ENDOMETRIUM | 7852403 | 7852475 | 7852408 | 7852408 | Missense_Mutation | A | G | p.D840G |
NY_BONE | 7852400 | 7852475 | 7852429 | 7852429 | Missense_Mutation | C | G | p.P847R |
NY_BONE | 7852403 | 7852455 | 7852429 | 7852429 | Missense_Mutation | C | G | p.P847R |
NY_BONE | 7852403 | 7852475 | 7852429 | 7852429 | Missense_Mutation | C | G | p.P847R |
MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7851805 | 7851937 | 7851858 | 7851858 | Nonsense_Mutation | C | T | p.R812* |
MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7851805 | 7852003 | 7851858 | 7851858 | Nonsense_Mutation | C | T | p.R812* |
SNU1040_LARGE_INTESTINE | 7851805 | 7851937 | 7851858 | 7851858 | Nonsense_Mutation | C | T | p.R812* |
SNU1040_LARGE_INTESTINE | 7851805 | 7852003 | 7851858 | 7851858 | Nonsense_Mutation | C | T | p.R812* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CNTROB |
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_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | CESC | rs4462665 | chr17:7849087 | C/G | 2.96e-07 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | COAD | rs4462665 | chr17:7849087 | C/G | 5.91e-08 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | HNSC | rs4462665 | chr17:7849087 | C/G | 1.96e-11 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | KIRP | rs4462665 | chr17:7849087 | C/G | 6.53e-16 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | KIRC | rs4462665 | chr17:7849087 | C/G | 1.87e-20 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | LUAD | rs4462665 | chr17:7849087 | C/G | 1.03e-09 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | PCPG | rs4462665 | chr17:7849087 | C/G | 2.83e-12 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | PAAD | rs4462665 | chr17:7849087 | C/G | 1.21e-05 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | PRAD | rs4462665 | chr17:7849087 | C/G | 4.82e-32 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | THYM | rs4462665 | chr17:7849087 | C/G | 3.40e-05 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | TGCT | rs4462665 | chr17:7849087 | C/G | 2.08e-06 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | SKCM | rs4462665 | chr17:7849087 | C/G | 1.87e-05 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | THCA | rs4462665 | chr17:7849087 | C/G | 6.61e-39 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | UVM | rs4462665 | chr17:7849087 | C/G | 5.57e-07 |
exon_skip_148987 | 17 | 7847793:7847956:7849045:7849304:7850888:7851003 | 7849045:7849304 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000576922.1,ENST00000380262.3 | UCEC | rs4462665 | chr17:7849087 | C/G | 7.39e-05 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | CESC | rs11650083 | chr17:7847955 | C/A | 1.64e-07 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | COAD | rs11650083 | chr17:7847955 | C/A | 2.79e-08 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | HNSC | rs11650083 | chr17:7847955 | C/A | 1.89e-10 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | KIRP | rs11650083 | chr17:7847955 | C/A | 3.91e-18 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | KIRC | rs11650083 | chr17:7847955 | C/A | 2.50e-19 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | LUAD | rs11650083 | chr17:7847955 | C/A | 1.70e-10 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | PCPG | rs11650083 | chr17:7847955 | C/A | 7.33e-13 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | PAAD | rs11650083 | chr17:7847955 | C/A | 2.12e-05 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | PRAD | rs11650083 | chr17:7847955 | C/A | 1.22e-31 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | THYM | rs11650083 | chr17:7847955 | C/A | 4.29e-05 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | TGCT | rs11650083 | chr17:7847955 | C/A | 2.08e-06 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | SKCM | rs11650083 | chr17:7847955 | C/A | 1.87e-05 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | THCA | rs11650083 | chr17:7847955 | C/A | 5.31e-39 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | UVM | rs11650083 | chr17:7847955 | C/A | 5.57e-07 |
exon_skip_148986 | 17 | 7847440:7847566:7847793:7847956:7849045:7849304 | 7847793:7847956 | ENST00000576723.1,ENST00000565740.1,ENST00000563694.1,ENST00000380262.3 | UCEC | rs11650083 | chr17:7847955 | C/A | 1.04e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNTROB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNTROB |
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RelatedDrugs for CNTROB |
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 CNTROB |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
CNTROB | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |