|
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 PRR14 |
Gene summary |
Gene information | Gene symbol | PRR14 | Gene ID | 78994 |
Gene name | proline rich 14 | |
Synonyms | - | |
Cytomap | 16p11.2 | |
Type of gene | protein-coding | |
Description | proline-rich protein 14 | |
Modification date | 20180519 | |
UniProtAcc | Q9BWN1 | |
Context | PubMed: PRR14 [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 |
Top |
Exon skipping events across known transcript of Ensembl for PRR14 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 PRR14 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for PRR14 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_135797 | 16 | 30662100:30662127:30662313:30662448:30662916:30662989 | 30662313:30662448 | ENSG00000156858.7 | ENST00000569864.1 |
exon_skip_135800 | 16 | 30662100:30662127:30662916:30662989:30663116:30663285 | 30662916:30662989 | ENSG00000156858.7 | ENST00000563211.1,ENST00000568754.1 |
exon_skip_135801 | 16 | 30662313:30662448:30662916:30662989:30663116:30663285 | 30662916:30662989 | ENSG00000156858.7 | ENST00000565410.1,ENST00000300835.4,ENST00000287463.4,ENST00000569864.1 |
exon_skip_135803 | 16 | 30664234:30664424:30664685:30664729:30665550:30665660 | 30664685:30664729 | ENSG00000156858.7 | ENST00000542965.2,ENST00000300835.4,ENST00000564946.1,ENST00000568754.1,ENST00000287463.4 |
exon_skip_135806 | 16 | 30665550:30665660:30665949:30666535:30666671:30666741 | 30665949:30666535 | ENSG00000156858.7 | ENST00000542965.2,ENST00000300835.4,ENST00000567322.1,ENST00000287463.4 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for PRR14 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_135797 | 16 | 30662100:30662127:30662313:30662448:30662916:30662989 | 30662313:30662448 | ENSG00000156858.7 | ENST00000569864.1 |
exon_skip_135800 | 16 | 30662100:30662127:30662916:30662989:30663116:30663285 | 30662916:30662989 | ENSG00000156858.7 | ENST00000568754.1,ENST00000563211.1 |
exon_skip_135801 | 16 | 30662313:30662448:30662916:30662989:30663116:30663285 | 30662916:30662989 | ENSG00000156858.7 | ENST00000569864.1,ENST00000300835.4,ENST00000565410.1,ENST00000287463.4 |
exon_skip_135803 | 16 | 30664234:30664424:30664685:30664729:30665550:30665660 | 30664685:30664729 | ENSG00000156858.7 | ENST00000568754.1,ENST00000564946.1,ENST00000300835.4,ENST00000287463.4,ENST00000542965.2 |
exon_skip_135806 | 16 | 30665550:30665660:30665949:30666535:30666671:30666741 | 30665949:30666535 | ENSG00000156858.7 | ENST00000300835.4,ENST00000287463.4,ENST00000542965.2,ENST00000567322.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PRR14 |
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 |
ENST00000300835 | 30662916 | 30662989 | 5CDS-5UTR |
ENST00000300835 | 30664685 | 30664729 | Frame-shift |
ENST00000542965 | 30664685 | 30664729 | Frame-shift |
ENST00000300835 | 30665949 | 30666535 | Frame-shift |
ENST00000542965 | 30665949 | 30666535 | Frame-shift |
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 |
ENST00000300835 | 30662916 | 30662989 | 5CDS-5UTR |
ENST00000300835 | 30664685 | 30664729 | Frame-shift |
ENST00000542965 | 30664685 | 30664729 | Frame-shift |
ENST00000300835 | 30665949 | 30666535 | Frame-shift |
ENST00000542965 | 30665949 | 30666535 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for PRR14 |
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 |
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 |
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 |
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 |
Top |
SNVs in the skipped exons for PRR14 |
- 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. |
PRR14_COAD_exon_skip_135806_psi_boxplot.png |
PRR14_PAAD_exon_skip_135806_psi_boxplot.png |
PRR14_SARC_exon_skip_135806_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-A1EG-01 | exon_skip_135803 | 30664686 | 30664729 | 30664702 | 30664702 | Frame_Shift_Del | C | - | p.T174fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_135806 | 30665950 | 30666535 | 30665998 | 30665998 | Frame_Shift_Del | T | - | p.L237fs |
COAD | TCGA-A6-5665-01 | exon_skip_135806 | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
SARC | TCGA-K1-A6RT-01 | exon_skip_135806 | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
UCEC | TCGA-D1-A0ZS-01 | exon_skip_135806 | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
COAD | TCGA-AD-5900-01 | exon_skip_135806 | 30665950 | 30666535 | 30666120 | 30666121 | Frame_Shift_Ins | - | C | p.S277fs |
COAD | TCGA-F4-6570-01 | exon_skip_135806 | 30665950 | 30666535 | 30666120 | 30666121 | Frame_Shift_Ins | - | C | p.S277fs |
COAD | TCGA-G4-6588-01 | exon_skip_135806 | 30665950 | 30666535 | 30666120 | 30666121 | Frame_Shift_Ins | - | C | p.S277fs |
PAAD | TCGA-IB-7651-01 | exon_skip_135806 | 30665950 | 30666535 | 30666168 | 30666168 | Nonsense_Mutation | C | T | p.Q293* |
- 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 |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
SNU520_STOMACH | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
TOV21G_OVARY | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
CCK81_LARGE_INTESTINE | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
GP2D_LARGE_INTESTINE | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
RL952_ENDOMETRIUM | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
SW48_LARGE_INTESTINE | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
GP5D_LARGE_INTESTINE | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30665950 | 30666535 | 30666121 | 30666121 | Frame_Shift_Del | C | - | p.S277fs |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30665950 | 30666535 | 30666203 | 30666203 | Frame_Shift_Del | C | - | p.S304fs |
SNU407_LARGE_INTESTINE | 30665950 | 30666535 | 30666247 | 30666247 | Frame_Shift_Del | C | - | p.T319fs |
SNU407_LARGE_INTESTINE | 30665950 | 30666535 | 30666306 | 30666306 | Frame_Shift_Del | C | - | p.P340fs |
D425_CENTRAL_NERVOUS_SYSTEM | 30665950 | 30666535 | 30666107 | 30666108 | Frame_Shift_Ins | - | C | p.P273fs |
A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30665950 | 30666535 | 30666113 | 30666114 | Frame_Shift_Ins | - | C | p.P275fs |
HCC2450_LUNG | 30665950 | 30666535 | 30666113 | 30666114 | Frame_Shift_Ins | - | C | p.P275fs |
MERO84_LUNG | 30665950 | 30666535 | 30666113 | 30666114 | Frame_Shift_Ins | - | C | p.P275fs |
MM386_SKIN | 30665950 | 30666535 | 30666113 | 30666114 | Frame_Shift_Ins | - | C | p.P275fs |
MM426_SKIN | 30665950 | 30666535 | 30666113 | 30666114 | Frame_Shift_Ins | - | C | p.P275fs |
PACADD188_PANCREAS | 30665950 | 30666535 | 30666113 | 30666114 | Frame_Shift_Ins | - | C | p.P275fs |
SKGT2_STOMACH | 30665950 | 30666535 | 30666113 | 30666114 | Frame_Shift_Ins | - | C | p.P275fs |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30664686 | 30664729 | 30664700 | 30664700 | Missense_Mutation | G | T | p.E173D |
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30665950 | 30666535 | 30665961 | 30665961 | Missense_Mutation | G | A | p.A224T |
BICR31_UPPER_AERODIGESTIVE_TRACT | 30665950 | 30666535 | 30666009 | 30666009 | Missense_Mutation | C | T | p.R240C |
647V_URINARY_TRACT | 30665950 | 30666535 | 30666126 | 30666126 | Missense_Mutation | C | A | p.P279T |
NCIH2085_LUNG | 30665950 | 30666535 | 30666132 | 30666132 | Missense_Mutation | A | G | p.K281E |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30665950 | 30666535 | 30666150 | 30666150 | Missense_Mutation | G | A | p.A287T |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30665950 | 30666535 | 30666220 | 30666220 | Missense_Mutation | G | A | p.R310H |
K5_THYROID | 30665950 | 30666535 | 30666240 | 30666240 | Missense_Mutation | C | T | p.H317Y |
LN464_CENTRAL_NERVOUS_SYSTEM | 30665950 | 30666535 | 30666286 | 30666286 | Missense_Mutation | A | G | p.Y332C |
ACN_AUTONOMIC_GANGLIA | 30665950 | 30666535 | 30666286 | 30666286 | Missense_Mutation | A | G | p.Y332C |
LN464_CENTRAL_NERVOUS_SYSTEM | 30665950 | 30666535 | 30666289 | 30666289 | Missense_Mutation | C | A | p.S333Y |
ACN_AUTONOMIC_GANGLIA | 30665950 | 30666535 | 30666289 | 30666289 | Missense_Mutation | C | A | p.S333Y |
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30665950 | 30666535 | 30666328 | 30666328 | Missense_Mutation | C | A | p.T346N |
TE1_OESOPHAGUS | 30665950 | 30666535 | 30666360 | 30666360 | Missense_Mutation | C | A | p.P357T |
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30665950 | 30666535 | 30666447 | 30666447 | Missense_Mutation | C | T | p.P386S |
SW1783_CENTRAL_NERVOUS_SYSTEM | 30665950 | 30666535 | 30666453 | 30666453 | Missense_Mutation | G | A | p.G388R |
C33A_CERVIX | 30665950 | 30666535 | 30666468 | 30666468 | Missense_Mutation | T | C | p.S393P |
SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30665950 | 30666535 | 30666357 | 30666357 | Nonsense_Mutation | C | T | p.R356* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRR14 |
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 PRR14 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRR14 |
Top |
RelatedDrugs for PRR14 |
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 PRR14 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |