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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 IFNGR2 |
Gene summary |
Gene information | Gene symbol | IFNGR2 | Gene ID | 3460 |
Gene name | interferon gamma receptor 2 | |
Synonyms | AF-1|IFGR2|IFNGT1|IMD28 | |
Cytomap | 21q22.11 | |
Type of gene | protein-coding | |
Description | interferon gamma receptor 2IFN-gamma receptor 2IFN-gamma-R-betaIFN-gamma-R2interferon gamma receptor accessory factor-1interferon gamma receptor beta chaininterferon gamma transducer 1 | |
Modification date | 20180523 | |
UniProtAcc | P38484 | |
Context | PubMed: IFNGR2 [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 IFNGR2 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 IFNGR2 |
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 IFNGR2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_359388 | 21 | 34775771:34775922:34783141:34783198:34783750:34783877 | 34783141:34783198 | ENSG00000159128.10 | ENST00000439213.1 |
exon_skip_359389 | 21 | 34775771:34775922:34783141:34783198:34787194:34787327 | 34783141:34783198 | ENSG00000159128.10 | ENST00000381995.1 |
exon_skip_359395 | 21 | 34775771:34775922:34783146:34783198:34787194:34787327 | 34783146:34783198 | ENSG00000159128.10 | ENST00000405436.1 |
exon_skip_359407 | 21 | 34783146:34783198:34783750:34783881:34787194:34787327 | 34783750:34783881 | ENSG00000159128.10 | ENST00000439213.1 |
exon_skip_359410 | 21 | 34783146:34783198:34787194:34787327:34793786:34793992 | 34787194:34787327 | ENSG00000159128.10 | ENST00000405436.1,ENST00000381995.1 |
exon_skip_359413 | 21 | 34783750:34783881:34787194:34787327:34793786:34793992 | 34787194:34787327 | ENSG00000159128.10 | ENST00000439213.1 |
exon_skip_359415 | 21 | 34787194:34787327:34793786:34793992:34799190:34799339 | 34793786:34793992 | ENSG00000159128.10 | ENST00000290219.6,ENST00000439213.1,ENST00000405436.1,ENST00000381995.1 |
exon_skip_359419 | 21 | 34793786:34793992:34799190:34799339:34804483:34804523 | 34799190:34799339 | ENSG00000159128.10 | ENST00000545369.2,ENST00000290219.6,ENST00000439213.1,ENST00000405436.1,ENST00000381995.1 |
exon_skip_359423 | 21 | 34799190:34799339:34804483:34804643:34805020:34805178 | 34804483:34804643 | ENSG00000159128.10 | ENST00000545369.2,ENST00000290219.6,ENST00000405436.1,ENST00000381995.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IFNGR2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_359388 | 21 | 34775771:34775922:34783141:34783198:34783750:34783877 | 34783141:34783198 | ENSG00000159128.10 | ENST00000439213.1 |
exon_skip_359389 | 21 | 34775771:34775922:34783141:34783198:34787194:34787327 | 34783141:34783198 | ENSG00000159128.10 | ENST00000381995.1 |
exon_skip_359395 | 21 | 34775771:34775922:34783146:34783198:34787194:34787327 | 34783146:34783198 | ENSG00000159128.10 | ENST00000405436.1 |
exon_skip_359407 | 21 | 34783146:34783198:34783750:34783881:34787194:34787327 | 34783750:34783881 | ENSG00000159128.10 | ENST00000439213.1 |
exon_skip_359410 | 21 | 34783146:34783198:34787194:34787327:34793786:34793992 | 34787194:34787327 | ENSG00000159128.10 | ENST00000381995.1,ENST00000405436.1 |
exon_skip_359413 | 21 | 34783750:34783881:34787194:34787327:34793786:34793992 | 34787194:34787327 | ENSG00000159128.10 | ENST00000439213.1 |
exon_skip_359415 | 21 | 34787194:34787327:34793786:34793992:34799190:34799339 | 34793786:34793992 | ENSG00000159128.10 | ENST00000290219.6,ENST00000439213.1,ENST00000381995.1,ENST00000405436.1 |
exon_skip_359419 | 21 | 34793786:34793992:34799190:34799339:34804483:34804523 | 34799190:34799339 | ENSG00000159128.10 | ENST00000290219.6,ENST00000439213.1,ENST00000381995.1,ENST00000545369.2,ENST00000405436.1 |
exon_skip_359423 | 21 | 34799190:34799339:34804483:34804643:34805020:34805178 | 34804483:34804643 | ENSG00000159128.10 | ENST00000290219.6,ENST00000381995.1,ENST00000545369.2,ENST00000405436.1 |
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 IFNGR2 |
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 IFNGR2 |
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 IFNGR2 |
- 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_359413 exon_skip_359410 | 34787195 | 34787327 | 34787279 | 34787279 | Frame_Shift_Del | C | - | p.A53fs |
COAD | TCGA-A6-5665-01 | exon_skip_359419 | 34799191 | 34799339 | 34799292 | 34799292 | Frame_Shift_Del | T | - | p.A171fs |
STAD | TCGA-CG-5728-01 | exon_skip_359419 | 34799191 | 34799339 | 34799320 | 34799320 | Frame_Shift_Del | A | - | p.E181fs |
UCEC | TCGA-B5-A0K2-01 | exon_skip_359419 | 34799191 | 34799339 | 34799320 | 34799320 | Frame_Shift_Del | A | - | p.E181fs |
CESC | TCGA-BI-A0VS-01 | exon_skip_359423 | 34804484 | 34804643 | 34804527 | 34804528 | Frame_Shift_Ins | - | AA | p.*202fs |
CESC | TCGA-BI-A0VS-01 | exon_skip_359423 | 34804484 | 34804643 | 34804527 | 34804528 | Frame_Shift_Ins | - | AA | p.P204fs |
BLCA | TCGA-LT-A5Z6-01 | exon_skip_359413 exon_skip_359410 | 34787195 | 34787327 | 34787221 | 34787221 | Nonsense_Mutation | C | T | p.Q34* |
HNSC | TCGA-CR-6472-01 | exon_skip_359413 exon_skip_359410 | 34787195 | 34787327 | 34787221 | 34787221 | Nonsense_Mutation | C | T | p.Q34* |
BLCA | TCGA-FD-A3SO-01 | exon_skip_359423 | 34804484 | 34804643 | 34804515 | 34804515 | Nonsense_Mutation | C | G | p.S198* |
- 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 |
HEC59_ENDOMETRIUM | 34799191 | 34799339 | 34799292 | 34799292 | Frame_Shift_Del | T | - | p.F173fs |
MDAPCA2B_PROSTATE | 34799191 | 34799339 | 34799292 | 34799292 | Frame_Shift_Del | T | - | p.F173fs |
CCK81_LARGE_INTESTINE | 34799191 | 34799339 | 34799292 | 34799292 | Frame_Shift_Del | T | - | p.F173fs |
KM12_LARGE_INTESTINE | 34799191 | 34799339 | 34799292 | 34799292 | Frame_Shift_Del | T | - | p.F173fs |
C33A_CERVIX | 34799191 | 34799339 | 34799320 | 34799320 | Frame_Shift_Del | A | - | p.E181fs |
LS180_LARGE_INTESTINE | 34787195 | 34787327 | 34787266 | 34787266 | Missense_Mutation | T | A | p.W49R |
H290_PLEURA | 34787195 | 34787327 | 34787305 | 34787305 | Missense_Mutation | G | T | p.V62F |
SNU1040_LARGE_INTESTINE | 34793787 | 34793992 | 34793809 | 34793809 | Missense_Mutation | G | A | p.A77T |
HEC1A_ENDOMETRIUM | 34793787 | 34793992 | 34793920 | 34793920 | Missense_Mutation | C | T | p.R114C |
HEC1_ENDOMETRIUM | 34793787 | 34793992 | 34793920 | 34793920 | Missense_Mutation | C | T | p.R114C |
HEC1B_ENDOMETRIUM | 34793787 | 34793992 | 34793920 | 34793920 | Missense_Mutation | C | T | p.R114C |
PACADD137_PANCREAS | 34793787 | 34793992 | 34793986 | 34793986 | Missense_Mutation | C | T | p.R136W |
MDAMB415_BREAST | 34799191 | 34799339 | 34799215 | 34799215 | Missense_Mutation | T | C | p.I146T |
HCC2218_BREAST | 34799191 | 34799339 | 34799236 | 34799236 | Missense_Mutation | G | A | p.G153D |
SNU1040_LARGE_INTESTINE | 34804484 | 34804643 | 34804502 | 34804502 | Missense_Mutation | A | C | p.S194R |
SW1271_LUNG | 34804484 | 34804643 | 34804589 | 34804589 | Missense_Mutation | A | G | p.I223V |
KMRC1_KIDNEY | 34804484 | 34804643 | 34804626 | 34804626 | Missense_Mutation | A | G | p.Y235C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IFNGR2 |
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 IFNGR2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IFNGR2 |
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RelatedDrugs for IFNGR2 |
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 IFNGR2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
IFNGR2 | C4013947 | IMMUNODEFICIENCY 28 | 1 | ORPHANET;UNIPROT |