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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 TXK |
Gene summary |
Gene information | Gene symbol | TXK | Gene ID | 7294 |
Gene name | TXK tyrosine kinase | |
Synonyms | BTKL|PSCTK5|PTK4|RLK|TKL | |
Cytomap | 4p12 | |
Type of gene | protein-coding | |
Description | tyrosine-protein kinase TXKPTK4 protein tyrosine kinase 4protein-tyrosine kinase 4resting lymphocyte kinase | |
Modification date | 20180523 | |
UniProtAcc | P42681 | |
Context | PubMed: TXK [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 |
TXK | GO:0006357 | regulation of transcription by RNA polymerase II | 11859127 |
TXK | GO:0006468 | protein phosphorylation | 17177976 |
TXK | GO:0032729 | positive regulation of interferon-gamma production | 10523612|11859127 |
TXK | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11859127 |
TXK | GO:0046777 | protein autophosphorylation | 12081135|17177976 |
TXK | GO:0060335 | positive regulation of interferon-gamma-mediated signaling pathway | 11859127 |
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Exon skipping events across known transcript of Ensembl for TXK 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 TXK |
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 TXK |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_429412 | 4 | 48073533:48073691:48075951:48076070:48078418:48078483 | 48075951:48076070 | ENSG00000074966.6 | ENST00000264316.4,ENST00000507351.1 |
exon_skip_429413 | 4 | 48073533:48073691:48078418:48078483:48081928:48082083 | 48078418:48078483 | ENSG00000074966.6 | ENST00000514937.1 |
exon_skip_429414 | 4 | 48091766:48091841:48096093:48096221:48097159:48097239 | 48096093:48096221 | ENSG00000074966.6 | ENST00000264316.4,ENST00000510457.1 |
exon_skip_429415 | 4 | 48106917:48106972:48112554:48112620:48114323:48114529 | 48112554:48112620 | ENSG00000074966.6 | ENST00000264316.4,ENST00000510457.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TXK |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_429412 | 4 | 48073533:48073691:48075951:48076070:48078418:48078483 | 48075951:48076070 | ENSG00000074966.6 | ENST00000264316.4,ENST00000507351.1 |
exon_skip_429413 | 4 | 48073533:48073691:48078418:48078483:48081928:48082083 | 48078418:48078483 | ENSG00000074966.6 | ENST00000514937.1 |
exon_skip_429414 | 4 | 48091766:48091841:48096093:48096221:48097159:48097239 | 48096093:48096221 | ENSG00000074966.6 | ENST00000264316.4,ENST00000510457.1 |
exon_skip_429415 | 4 | 48106917:48106972:48112554:48112620:48114323:48114529 | 48112554:48112620 | ENSG00000074966.6 | ENST00000264316.4,ENST00000510457.1 |
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 TXK |
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 |
ENST00000264316 | 48075951 | 48076070 | Frame-shift |
ENST00000264316 | 48096093 | 48096221 | Frame-shift |
ENST00000264316 | 48112554 | 48112620 | 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 |
ENST00000264316 | 48075951 | 48076070 | Frame-shift |
ENST00000264316 | 48096093 | 48096221 | Frame-shift |
ENST00000264316 | 48112554 | 48112620 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TXK |
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 |
ENST00000264316 | 2931 | 527 | 48112554 | 48112620 | 467 | 532 | 127 | 148 |
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 |
ENST00000264316 | 2931 | 527 | 48112554 | 48112620 | 467 | 532 | 127 | 148 |
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 |
P42681 | 127 | 148 | 148 | 151 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DM0 |
P42681 | 127 | 148 | 1 | 527 | Chain | ID=PRO_0000088175;Note=Tyrosine-protein kinase TXK |
P42681 | 127 | 148 | 82 | 142 | Domain | Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
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 |
P42681 | 127 | 148 | 148 | 151 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DM0 |
P42681 | 127 | 148 | 1 | 527 | Chain | ID=PRO_0000088175;Note=Tyrosine-protein kinase TXK |
P42681 | 127 | 148 | 82 | 142 | Domain | Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
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SNVs in the skipped exons for TXK |
- 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-A1EG-01 | exon_skip_429412 | 48075952 | 48076070 | 48076008 | 48076008 | Frame_Shift_Del | G | - | p.P435fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_429413 | 48078419 | 48078483 | 48078459 | 48078459 | Frame_Shift_Del | A | - | p.S400fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_429413 | 48078419 | 48078483 | 48078467 | 48078467 | Frame_Shift_Del | A | - | p.L397fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_429414 | 48096094 | 48096221 | 48096183 | 48096183 | Frame_Shift_Del | T | - | p.K207fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_429414 | 48096094 | 48096221 | 48096183 | 48096183 | Frame_Shift_Del | T | - | p.K207fs |
BLCA | TCGA-G2-A3VY-01 | exon_skip_429413 | 48078419 | 48078483 | 48078437 | 48078437 | Nonsense_Mutation | G | C | p.S407* |
BLCA | TCGA-XF-A9T0-01 | exon_skip_429414 | 48096094 | 48096221 | 48096193 | 48096193 | Nonsense_Mutation | G | A | p.Q204* |
HNSC | TCGA-CV-5435-01 | exon_skip_429414 | 48096094 | 48096221 | 48096214 | 48096214 | Nonsense_Mutation | C | A | p.E197* |
HNSC | TCGA-CV-5435-01 | exon_skip_429414 | 48096094 | 48096221 | 48096214 | 48096215 | Nonsense_Mutation | CC | AA | p.E197* |
- 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 |
UMUC16_URINARY_TRACT | 48075952 | 48076070 | 48075985 | 48075985 | Missense_Mutation | T | C | p.K442E |
HMVII_SKIN | 48075952 | 48076070 | 48075994 | 48075994 | Missense_Mutation | G | A | p.L439F |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48075952 | 48076070 | 48076009 | 48076009 | Missense_Mutation | G | A | p.P434S |
RL952_ENDOMETRIUM | 48075952 | 48076070 | 48076026 | 48076026 | Missense_Mutation | A | T | p.F428Y |
HCC1833_LUNG | 48078419 | 48078483 | 48078462 | 48078462 | Missense_Mutation | T | C | p.S399G |
DU145_PROSTATE | 48096094 | 48096221 | 48096130 | 48096130 | Missense_Mutation | G | T | p.P225T |
DU145_PROSTATE | 48096094 | 48096221 | 48096146 | 48096146 | Missense_Mutation | G | T | p.H219Q |
KMRC2_KIDNEY | 48096094 | 48096221 | 48096168 | 48096168 | Missense_Mutation | T | C | p.Q212R |
LMSU_STOMACH | 48096094 | 48096221 | 48096168 | 48096168 | Missense_Mutation | T | C | p.Q212R |
NH6_AUTONOMIC_GANGLIA | 48096094 | 48096221 | 48096168 | 48096168 | Missense_Mutation | T | C | p.Q212R |
RKN_SOFT_TISSUE | 48096094 | 48096221 | 48096168 | 48096168 | Missense_Mutation | T | C | p.Q212R |
NOS1_BONE | 48096094 | 48096221 | 48096168 | 48096168 | Missense_Mutation | T | C | p.Q212R |
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48096094 | 48096221 | 48096168 | 48096168 | Missense_Mutation | T | C | p.Q212R |
HEC251_ENDOMETRIUM | 48112555 | 48112620 | 48112559 | 48112559 | Missense_Mutation | A | G | p.Y148H |
SNU81_LARGE_INTESTINE | 48112555 | 48112620 | 48112577 | 48112577 | Missense_Mutation | T | C | p.I142V |
NCIH650_LUNG | 48096094 | 48096221 | 48096214 | 48096214 | Nonsense_Mutation | C | A | p.E197* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TXK |
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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TXK |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TXK |
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RelatedDrugs for TXK |
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 |
P42681 | DB12010 | Fostamatinib | Tyrosine-protein kinase TXK | small molecule | approved|investigational |
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RelatedDiseases for TXK |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |