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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 CTIF |
Gene summary |
Gene information | Gene symbol | CTIF | Gene ID | 9811 |
Gene name | cap binding complex dependent translation initiation factor | |
Synonyms | Gm672|KIAA0427 | |
Cytomap | 18q21.1 | |
Type of gene | protein-coding | |
Description | CBP80/20-dependent translation initiation factor | |
Modification date | 20180523 | |
UniProtAcc | O43310 | |
Context | PubMed: CTIF [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 CTIF 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 CTIF |
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 CTIF |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_296822 | 18 | 46065580:46065683:46066128:46066202:46145908:46146116 | 46066128:46066202 | ENSG00000134030.9 | ENST00000382998.4 |
exon_skip_296828 | 18 | 46145908:46146116:46151559:46151607:46162984:46163056 | 46151559:46151607 | ENSG00000134030.9 | ENST00000591412.1 |
exon_skip_296829 | 18 | 46145908:46146116:46162984:46163056:46190122:46190182 | 46162984:46163056 | ENSG00000134030.9 | ENST00000256413.3,ENST00000591387.1,ENST00000382998.4,ENST00000587752.1,ENST00000588345.1 |
exon_skip_296830 | 18 | 46190122:46190196:46190817:46190922:46197039:46197115 | 46190817:46190922 | ENSG00000134030.9 | ENST00000589585.1,ENST00000256413.3,ENST00000382998.4,ENST00000587752.1 |
exon_skip_296831 | 18 | 46197039:46197115:46237989:46238066:46284289:46284291 | 46237989:46238066 | ENSG00000134030.9 | ENST00000256413.3,ENST00000382998.4,ENST00000587752.1 |
exon_skip_296833 | 18 | 46284289:46284776:46287760:46288060:46343591:46343747 | 46287760:46288060 | ENSG00000134030.9 | ENST00000256413.3 |
exon_skip_296835 | 18 | 46287760:46288060:46343591:46343747:46383958:46384012 | 46343591:46343747 | ENSG00000134030.9 | ENST00000256413.3,ENST00000382998.4,ENST00000587860.1 |
exon_skip_296837 | 18 | 46343591:46343747:46383958:46384012:46385714:46386936 | 46383958:46384012 | ENSG00000134030.9 | ENST00000256413.3,ENST00000382998.4,ENST00000587860.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CTIF |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_296822 | 18 | 46065580:46065683:46066128:46066202:46145908:46146116 | 46066128:46066202 | ENSG00000134030.9 | ENST00000382998.4 |
exon_skip_296828 | 18 | 46145908:46146116:46151559:46151607:46162984:46163056 | 46151559:46151607 | ENSG00000134030.9 | ENST00000591412.1 |
exon_skip_296829 | 18 | 46145908:46146116:46162984:46163056:46190122:46190182 | 46162984:46163056 | ENSG00000134030.9 | ENST00000256413.3,ENST00000382998.4,ENST00000591387.1,ENST00000587752.1,ENST00000588345.1 |
exon_skip_296830 | 18 | 46190122:46190196:46190817:46190922:46197039:46197115 | 46190817:46190922 | ENSG00000134030.9 | ENST00000256413.3,ENST00000382998.4,ENST00000587752.1,ENST00000589585.1 |
exon_skip_296831 | 18 | 46197039:46197115:46237989:46238066:46284289:46284291 | 46237989:46238066 | ENSG00000134030.9 | ENST00000256413.3,ENST00000382998.4,ENST00000587752.1 |
exon_skip_296833 | 18 | 46284289:46284776:46287760:46288060:46343591:46343747 | 46287760:46288060 | ENSG00000134030.9 | ENST00000256413.3 |
exon_skip_296835 | 18 | 46287760:46288060:46343591:46343747:46383958:46384012 | 46343591:46343747 | ENSG00000134030.9 | ENST00000256413.3,ENST00000382998.4,ENST00000587860.1 |
exon_skip_296837 | 18 | 46343591:46343747:46383958:46384012:46385714:46386936 | 46383958:46384012 | ENSG00000134030.9 | ENST00000256413.3,ENST00000382998.4,ENST00000587860.1 |
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 CTIF |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for CTIF |
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 |
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SNVs in the skipped exons for CTIF |
- 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. |
CTIF_CESC_exon_skip_296822_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 |
COAD | TCGA-CK-5913-01 | exon_skip_296829 | 46162985 | 46163056 | 46163043 | 46163043 | Frame_Shift_Del | C | - | p.A80fs |
UCEC | TCGA-D1-A0ZO-01 | exon_skip_296829 | 46162985 | 46163056 | 46163043 | 46163043 | Frame_Shift_Del | C | - | p.A80fs |
LIHC | TCGA-DD-A3A1-01 | exon_skip_296833 | 46287761 | 46288060 | 46287919 | 46287919 | Frame_Shift_Del | G | - | p.L410fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_296833 | 46287761 | 46288060 | 46288021 | 46288021 | Frame_Shift_Del | G | - | p.E444fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_296833 | 46287761 | 46288060 | 46288021 | 46288021 | Frame_Shift_Del | G | - | p.E446fs |
KIRC | TCGA-A3-3382-01 | exon_skip_296829 | 46162985 | 46163056 | 46163042 | 46163043 | Frame_Shift_Ins | - | C | p.P80fs |
STAD | TCGA-VQ-A8P2-01 | exon_skip_296829 | 46162985 | 46163056 | 46163042 | 46163043 | Frame_Shift_Ins | - | C | p.P80fs |
STAD | TCGA-VQ-A8P2-01 | exon_skip_296829 | 46162985 | 46163056 | 46163033 | 46163033 | Nonsense_Mutation | C | T | p.R77* |
THYM | TCGA-XU-A92U-01 | exon_skip_296829 | 46162985 | 46163056 | 46163039 | 46163039 | Nonsense_Mutation | C | T | p.R79X |
CESC | TCGA-DS-A3LQ-01 | exon_skip_296822 | 46066129 | 46066202 | 46066203 | 46066203 | Splice_Site | G | T | e0+1 |
- 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 |
SKMEL30_SKIN | 46162985 | 46163056 | 46163025 | 46163025 | Missense_Mutation | C | T | p.S74F |
SNUC5_LARGE_INTESTINE | 46190818 | 46190922 | 46190862 | 46190862 | Missense_Mutation | A | G | p.Q124R |
MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46190818 | 46190922 | 46190865 | 46190865 | Missense_Mutation | T | C | p.F125S |
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46190818 | 46190922 | 46190871 | 46190871 | Missense_Mutation | G | A | p.R127H |
22RV1_PROSTATE | 46237990 | 46238066 | 46238023 | 46238023 | Missense_Mutation | G | A | p.A181T |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46287761 | 46288060 | 46287809 | 46287809 | Missense_Mutation | A | G | p.K374E |
HCC1187_BREAST | 46287761 | 46288060 | 46287854 | 46287854 | Missense_Mutation | G | C | p.V389L |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46287761 | 46288060 | 46287932 | 46287932 | Missense_Mutation | C | T | p.R415C |
SNU407_LARGE_INTESTINE | 46287761 | 46288060 | 46287978 | 46287978 | Missense_Mutation | C | T | p.T430I |
SKUT1_SOFT_TISSUE | 46287761 | 46288060 | 46288034 | 46288034 | Missense_Mutation | C | T | p.R449W |
NCIH2004RT_SOFT_TISSUE | 46343592 | 46343747 | 46343638 | 46343638 | Missense_Mutation | G | A | p.R473H |
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46343592 | 46343747 | 46343646 | 46343646 | Missense_Mutation | G | T | p.G476C |
CORL23_LUNG | 46343592 | 46343747 | 46343700 | 46343700 | Missense_Mutation | G | A | p.E494K |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46343592 | 46343747 | 46343709 | 46343709 | Missense_Mutation | C | T | p.R497C |
SNU81_LARGE_INTESTINE | 46162985 | 46163056 | 46163039 | 46163039 | Nonsense_Mutation | C | T | p.R79* |
SNU1_STOMACH | 46287761 | 46288060 | 46287923 | 46287923 | Nonsense_Mutation | G | T | p.E412* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CTIF |
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 CTIF |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTIF |
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RelatedDrugs for CTIF |
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 CTIF |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |