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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
![]() | Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ITFG1 |
Gene summary |
| Gene information | Gene symbol | ITFG1 | Gene ID | 81533 |
| Gene name | integrin alpha FG-GAP repeat containing 1 | |
| Synonyms | 2310047C21Rik|CDA08|LNKN-1|TIP | |
| Cytomap | 16q12.1 | |
| Type of gene | protein-coding | |
| Description | T-cell immunomodulatory proteinLINKINintegrin-alpha FG-GAP repeat-containing protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8TB96 | |
| Context | PubMed: ITFG1 [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 ITFG1 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 ITFG1 |
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 ITFG1 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_144140 | 16 | 47189582:47189689:47192783:47192845:47195660:47195743 | 47192783:47192845 | ENSG00000129636.8 | ENST00000544001.2 |
| exon_skip_144141 | 16 | 47189582:47189689:47192783:47192901:47195660:47195743 | 47192783:47192901 | ENSG00000129636.8 | ENST00000537184.2,ENST00000565262.1,ENST00000567957.1,ENST00000568047.1,ENST00000542691.1,ENST00000320640.6 |
| exon_skip_144146 | 16 | 47195660:47195743:47196450:47196512:47252778:47252857 | 47196450:47196512 | ENSG00000129636.8 | ENST00000565262.1 |
| exon_skip_144147 | 16 | 47195660:47195743:47196450:47196575:47252778:47252857 | 47196450:47196575 | ENSG00000129636.8 | ENST00000537184.2,ENST00000544001.2,ENST00000567957.1,ENST00000568047.1,ENST00000542691.1,ENST00000320640.6 |
| exon_skip_144151 | 16 | 47252778:47252857:47271875:47271919:47292542:47292633 | 47271875:47271919 | ENSG00000129636.8 | ENST00000537184.2,ENST00000544001.2,ENST00000565262.1,ENST00000568047.1,ENST00000542691.1,ENST00000320640.6 |
| exon_skip_144153 | 16 | 47409786:47409851:47462714:47462809:47485306:47485381 | 47462714:47462809 | ENSG00000129636.8 | ENST00000544001.2,ENST00000569551.2,ENST00000320640.6 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ITFG1 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_144140 | 16 | 47189582:47189689:47192783:47192845:47195660:47195743 | 47192783:47192845 | ENSG00000129636.8 | ENST00000544001.2 |
| exon_skip_144141 | 16 | 47189582:47189689:47192783:47192901:47195660:47195743 | 47192783:47192901 | ENSG00000129636.8 | ENST00000568047.1,ENST00000320640.6,ENST00000537184.2,ENST00000542691.1,ENST00000567957.1,ENST00000565262.1 |
| exon_skip_144146 | 16 | 47195660:47195743:47196450:47196512:47252778:47252857 | 47196450:47196512 | ENSG00000129636.8 | ENST00000565262.1 |
| exon_skip_144147 | 16 | 47195660:47195743:47196450:47196575:47252778:47252857 | 47196450:47196575 | ENSG00000129636.8 | ENST00000568047.1,ENST00000320640.6,ENST00000537184.2,ENST00000542691.1,ENST00000567957.1,ENST00000544001.2 |
| exon_skip_144151 | 16 | 47252778:47252857:47271875:47271919:47292542:47292633 | 47271875:47271919 | ENSG00000129636.8 | ENST00000568047.1,ENST00000320640.6,ENST00000537184.2,ENST00000542691.1,ENST00000544001.2,ENST00000565262.1 |
| exon_skip_144153 | 16 | 47409786:47409851:47462714:47462809:47485306:47485381 | 47462714:47462809 | ENSG00000129636.8 | ENST00000320640.6,ENST00000544001.2,ENST00000569551.2 |
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 ITFG1 |
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 |
| ENST00000320640 | 47192783 | 47192901 | Frame-shift |
| ENST00000320640 | 47196450 | 47196575 | Frame-shift |
| ENST00000320640 | 47271875 | 47271919 | Frame-shift |
| ENST00000320640 | 47462714 | 47462809 | 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 |
| ENST00000320640 | 47192783 | 47192901 | Frame-shift |
| ENST00000320640 | 47196450 | 47196575 | Frame-shift |
| ENST00000320640 | 47271875 | 47271919 | Frame-shift |
| ENST00000320640 | 47462714 | 47462809 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ITFG1 |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
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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 ITFG1 |
- 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_144140 | 47192784 | 47192845 | 47192824 | 47192824 | Frame_Shift_Del | A | - | p.F580fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_144141 | 47192784 | 47192901 | 47192824 | 47192824 | Frame_Shift_Del | A | - | p.F580fs |
| HNSC | TCGA-CR-7390-01 | exon_skip_144147 | 47196451 | 47196575 | 47196540 | 47196540 | Nonsense_Mutation | G | A | p.Q497* |
| READ | TCGA-EI-6917-01 | exon_skip_144153 | 47462715 | 47462809 | 47462766 | 47462766 | Nonsense_Mutation | G | A | p.R202X |
- 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 |
| NCIH526_LUNG | 47192784 | 47192901 | 47192834 | 47192834 | Missense_Mutation | C | T | p.V577I |
| NCIH526_LUNG | 47192784 | 47192845 | 47192834 | 47192834 | Missense_Mutation | C | T | p.V577I |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47196451 | 47196575 | 47196510 | 47196510 | Missense_Mutation | G | A | p.R507W |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47196451 | 47196512 | 47196510 | 47196510 | Missense_Mutation | G | A | p.R507W |
| NCIH2342_LUNG | 47196451 | 47196575 | 47196573 | 47196573 | Missense_Mutation | C | A | p.G486C |
| SUM159PT_BREAST | 47271876 | 47271919 | 47271886 | 47271886 | Missense_Mutation | C | T | p.R455H |
| NCIH820_LUNG | 47271876 | 47271919 | 47271914 | 47271914 | Missense_Mutation | T | A | p.S446C |
| RH4_SOFT_TISSUE | 47462715 | 47462809 | 47462753 | 47462753 | Missense_Mutation | G | A | p.S206F |
| MCC13_SKIN | 47462715 | 47462809 | 47462759 | 47462759 | Missense_Mutation | G | A | p.P204L |
| TGBC11TKB_STOMACH | 47196451 | 47196575 | 47196451 | 47196451 | Splice_Site | T | - | p.K526fs |
| TGBC11TKB_STOMACH | 47196451 | 47196512 | 47196451 | 47196451 | Splice_Site | T | - | p.K526fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITFG1 |
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 ITFG1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITFG1 |
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RelatedDrugs for ITFG1 |
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 ITFG1 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |