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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 FCGR1A |
Gene summary |
Gene information | Gene symbol | FCGR1A | Gene ID | 2209 |
Gene name | Fc fragment of IgG receptor Ia | |
Synonyms | CD64|CD64A|FCRI|IGFR1 | |
Cytomap | 1q21.2 | |
Type of gene | protein-coding | |
Description | high affinity immunoglobulin gamma Fc receptor IFc fragment of IgG, high affinity Ia, receptor (CD64)Fc fragment of IgG, high affinity Ia, receptor for (CD64)Fc gamma receptor IaFc-gamma RIFc-gamma receptor I A1IgG Fc receptor Ifc-gamma RIAfcgamma | |
Modification date | 20180519 | |
UniProtAcc | P12314 | |
Context | PubMed: FCGR1A [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 FCGR1A 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 FCGR1A |
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 FCGR1A |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_9602 | 1 | 149754725:149754746:149755558:149755813:149759921:149760173 | 149755558:149755813 | ENSG00000150337.9 | ENST00000369168.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FCGR1A |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_9602 | 1 | 149754725:149754746:149755558:149755813:149759921:149760173 | 149755558:149755813 | ENSG00000150337.9 | ENST00000369168.4 |
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 FCGR1A |
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 |
ENST00000369168 | 149755558 | 149755813 | 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 |
ENST00000369168 | 149755558 | 149755813 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FCGR1A |
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 |
ENST00000369168 | 2197 | 374 | 149755558 | 149755813 | 107 | 361 | 17 | 102 |
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 |
ENST00000369168 | 2197 | 374 | 149755558 | 149755813 | 107 | 361 | 17 | 102 |
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 |
P12314 | 17 | 102 | 23 | 28 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 31 | 34 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 39 | 44 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 54 | 62 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 67 | 74 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 81 | 87 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 88 | 91 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X4M |
P12314 | 17 | 102 | 96 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 16 | 374 | Chain | ID=PRO_0000015139;Note=High affinity immunoglobulin gamma Fc receptor I |
P12314 | 17 | 102 | 43 | 85 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00114,ECO:0000269|PubMed:21965667;Dbxref=PMID:21965667 |
P12314 | 17 | 102 | 22 | 101 | Domain | Note=Ig-like C2-type 1 |
P12314 | 17 | 102 | 95 | 184 | Domain | Note=Ig-like C2-type 2 |
P12314 | 17 | 102 | 59 | 59 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21965667;Dbxref=PMID:21965667 |
P12314 | 17 | 102 | 78 | 78 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:21965667;Dbxref=PMID:19159218,PMID:21965667 |
P12314 | 17 | 102 | 77 | 79 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 25 | 25 | Sequence conflict | Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P12314 | 17 | 102 | 16 | 292 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
P12314 | 17 | 102 | 23 | 28 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 31 | 34 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 39 | 44 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 54 | 62 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 67 | 74 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 81 | 87 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 88 | 91 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4X4M |
P12314 | 17 | 102 | 96 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 16 | 374 | Chain | ID=PRO_0000015139;Note=High affinity immunoglobulin gamma Fc receptor I |
P12314 | 17 | 102 | 43 | 85 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00114,ECO:0000269|PubMed:21965667;Dbxref=PMID:21965667 |
P12314 | 17 | 102 | 22 | 101 | Domain | Note=Ig-like C2-type 1 |
P12314 | 17 | 102 | 95 | 184 | Domain | Note=Ig-like C2-type 2 |
P12314 | 17 | 102 | 59 | 59 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21965667;Dbxref=PMID:21965667 |
P12314 | 17 | 102 | 78 | 78 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:21965667;Dbxref=PMID:19159218,PMID:21965667 |
P12314 | 17 | 102 | 77 | 79 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4W4O |
P12314 | 17 | 102 | 25 | 25 | Sequence conflict | Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P12314 | 17 | 102 | 16 | 292 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for FCGR1A |
- 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 |
CESC | TCGA-C5-A1BQ-01 | exon_skip_9602 | 149755559 | 149755813 | 149755775 | 149755775 | Nonsense_Mutation | C | G | p.S90* |
- 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 |
HCT15_LARGE_INTESTINE | 149755559 | 149755813 | 149755694 | 149755694 | Missense_Mutation | C | T | p.T63I |
LB831BLC_URINARY_TRACT | 149755559 | 149755813 | 149755696 | 149755696 | Missense_Mutation | C | G | p.Q64E |
HC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 149755559 | 149755813 | 149755706 | 149755706 | Missense_Mutation | C | A | p.T67N |
VMCUB1_URINARY_TRACT | 149755559 | 149755813 | 149755733 | 149755733 | Missense_Mutation | G | T | p.S76I |
LNCAPCLONEFGC_PROSTATE | 149755559 | 149755813 | 149755741 | 149755741 | Missense_Mutation | G | A | p.D79N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FCGR1A |
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 FCGR1A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FCGR1A |
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RelatedDrugs for FCGR1A |
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 |
P12314 | DB00002 | Cetuximab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved | |
P12314 | DB00054 | Abciximab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved | |
P12314 | DB00005 | Etanercept | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00056 | Gemtuzumab ozogamicin | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00072 | Trastuzumab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00074 | Basiliximab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00075 | Muromonab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00078 | Ibritumomab tiuxetan | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00081 | Tositumomab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00087 | Alemtuzumab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00095 | Efalizumab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00108 | Natalizumab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00110 | Palivizumab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00112 | Bevacizumab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00707 | Porfimer sodium | High affinity immunoglobulin gamma Fc receptor I | small molecule | approved|investigational | |
P12314 | DB00992 | Methyl aminolevulinate | High affinity immunoglobulin gamma Fc receptor I | small molecule | approved|investigational | |
P12314 | DB11767 | Sarilumab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational | |
P12314 | DB00092 | Alefacept | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational|withdrawn | |
P12314 | DB06607 | Catumaxomab | High affinity immunoglobulin gamma Fc receptor I | biotech | approved|investigational|withdrawn |
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RelatedDiseases for FCGR1A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
FCGR1A | C0006663 | Calcinosis | 1 | CTD_human |
FCGR1A | C0018824 | Heart valve disease | 1 | CTD_human |
FCGR1A | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
FCGR1A | C3495559 | Juvenile arthritis | 1 | CTD_human |