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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for TFRC

check button Gene summary
Gene informationGene symbol

TFRC

Gene ID

7037

Gene nametransferrin receptor
SynonymsCD71|IMD46|T9|TFR|TFR1|TR|TRFR|p90
Cytomap

3q29

Type of geneprotein-coding
Descriptiontransferrin receptor protein 1
Modification date20180519
UniProtAcc

P02786

ContextPubMed: TFRC [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
TFRC

GO:0030890

positive regulation of B cell proliferation

26642240

TFRC

GO:0031623

receptor internalization

26642240

TFRC

GO:0033572

transferrin transport

26642240

TFRC

GO:0035690

cellular response to drug

16254249

TFRC

GO:0042102

positive regulation of T cell proliferation

26642240

TFRC

GO:0045830

positive regulation of isotype switching

26642240

TFRC

GO:0097286

iron ion import

7556058


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Exon skipping events across known transcript of Ensembl for TFRC from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for TFRC

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for TFRC

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4205733195780379:195780429:195781950:195782172:195785154:195785236195781950:195782172ENSG00000072274.8ENST00000392396.3,ENST00000540528.1,ENST00000420415.1,ENST00000475593.1,ENST00000535031.1,ENST00000360110.4
exon_skip_4205803195794477:195794528:195794902:195795001:195796325:195796439195794902:195795001ENSG00000072274.8ENST00000392396.3,ENST00000491658.1,ENST00000540528.1,ENST00000420415.1,ENST00000535031.1,ENST00000360110.4
exon_skip_4205813195794902:195795001:195796325:195796439:195798266:195798369195796325:195796439ENSG00000072274.8ENST00000392396.3,ENST00000540528.1,ENST00000420415.1,ENST00000535031.1,ENST00000360110.4
exon_skip_4205883195796325:195796439:195798266:195798369:195798873:195799023195798266:195798369ENSG00000072274.8ENST00000392396.3,ENST00000540528.1,ENST00000420415.1,ENST00000535031.1,ENST00000360110.4
exon_skip_4205923195798873:195799023:195800800:195800996:195802029:195802231195800800:195800996ENSG00000072274.8ENST00000392396.3,ENST00000360110.4
exon_skip_4205943195798873:195799023:195800800:195800996:195803934:195803976195800800:195800996ENSG00000072274.8ENST00000540528.1,ENST00000420415.1
exon_skip_4205973195798873:195799023:195802029:195802231:195803934:195803976195802029:195802231ENSG00000072274.8ENST00000421258.1
exon_skip_4206033195800800:195800996:195802029:195802231:195803934:195803976195802029:195802231ENSG00000072274.8ENST00000392396.3,ENST00000360110.4
exon_skip_4206063195801067:195801304:195802029:195802231:195803934:195803993195802029:195802231ENSG00000072274.8ENST00000464011.1
exon_skip_4206093195802085:195802231:195803934:195803993:195808913:195808961195803934:195803993ENSG00000072274.8ENST00000464011.1,ENST00000421258.1,ENST00000360110.4

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for TFRC

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4205733195780379:195780429:195781950:195782172:195785154:195785236195781950:195782172ENSG00000072274.8ENST00000420415.1,ENST00000360110.4,ENST00000540528.1,ENST00000392396.3,ENST00000535031.1,ENST00000475593.1
exon_skip_4205803195794477:195794528:195794902:195795001:195796325:195796439195794902:195795001ENSG00000072274.8ENST00000420415.1,ENST00000360110.4,ENST00000540528.1,ENST00000392396.3,ENST00000535031.1,ENST00000491658.1
exon_skip_4205813195794902:195795001:195796325:195796439:195798266:195798369195796325:195796439ENSG00000072274.8ENST00000420415.1,ENST00000360110.4,ENST00000540528.1,ENST00000392396.3,ENST00000535031.1
exon_skip_4205883195796325:195796439:195798266:195798369:195798873:195799023195798266:195798369ENSG00000072274.8ENST00000420415.1,ENST00000360110.4,ENST00000540528.1,ENST00000392396.3,ENST00000535031.1
exon_skip_4205923195798873:195799023:195800800:195800996:195802029:195802231195800800:195800996ENSG00000072274.8ENST00000360110.4,ENST00000392396.3
exon_skip_4205943195798873:195799023:195800800:195800996:195803934:195803976195800800:195800996ENSG00000072274.8ENST00000420415.1,ENST00000540528.1
exon_skip_4205973195798873:195799023:195802029:195802231:195803934:195803976195802029:195802231ENSG00000072274.8ENST00000421258.1
exon_skip_4206033195800800:195800996:195802029:195802231:195803934:195803976195802029:195802231ENSG00000072274.8ENST00000360110.4,ENST00000392396.3
exon_skip_4206063195801067:195801304:195802029:195802231:195803934:195803993195802029:195802231ENSG00000072274.8ENST00000464011.1
exon_skip_4206093195802085:195802231:195803934:195803993:195808913:195808961195803934:195803993ENSG00000072274.8ENST00000360110.4,ENST00000421258.1,ENST00000464011.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for TFRC

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003601101958039341958039933UTR-3CDS
ENST00000360110195798266195798369Frame-shift
ENST00000392396195798266195798369Frame-shift
ENST00000360110195800800195800996Frame-shift
ENST00000392396195800800195800996Frame-shift
ENST00000360110195802029195802231Frame-shift
ENST00000392396195802029195802231Frame-shift
ENST00000360110195781950195782172In-frame
ENST00000392396195781950195782172In-frame
ENST00000360110195794902195795001In-frame
ENST00000392396195794902195795001In-frame
ENST00000360110195796325195796439In-frame
ENST00000392396195796325195796439In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003601101958039341958039933UTR-3CDS
ENST00000360110195798266195798369Frame-shift
ENST00000392396195798266195798369Frame-shift
ENST00000360110195800800195800996Frame-shift
ENST00000392396195800800195800996Frame-shift
ENST00000360110195802029195802231Frame-shift
ENST00000392396195802029195802231Frame-shift
ENST00000360110195781950195782172In-frame
ENST00000392396195781950195782172In-frame
ENST00000360110195794902195795001In-frame
ENST00000392396195794902195795001In-frame
ENST00000360110195796325195796439In-frame
ENST00000392396195796325195796439In-frame

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Infer the effects of exon skipping event on protein functional features for TFRC

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003601105128760195796325195796439858971229267
ENST0000039239650497601957963251957964399711084229267
ENST0000036011051287601957949021957950019721070267300
ENST00000392396504976019579490219579500110851183267300
ENST00000360110512876019578195019578217218482069559633
ENST00000392396504976019578195019578217219612182559633

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003601105128760195796325195796439858971229267
ENST0000039239650497601957963251957964399711084229267
ENST0000036011051287601957949021957950019721070267300
ENST00000392396504976019579490219579500110851183267300
ENST00000360110512876019578195019578217218482069559633
ENST00000392396504976019578195019578217219612182559633

check button 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 featureDescription of feature
P02786229267226230Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267226230Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267232234Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267232234Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267245248Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1CX8
P02786229267245248Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1CX8
P02786229267253259Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267253259Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P027862292671760ChainID=PRO_0000174132;Note=Transferrin receptor protein 1
P027862292671760ChainID=PRO_0000174132;Note=Transferrin receptor protein 1
P02786229267101760ChainID=PRO_0000292265;Note=Transferrin receptor protein 1%2C serum form
P02786229267101760ChainID=PRO_0000292265;Note=Transferrin receptor protein 1%2C serum form
P02786229267223313DomainNote=PA
P02786229267223313DomainNote=PA
P02786229267251251GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1CX8,ECO:0000269|PubMed:10531064,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19349973;Db
P02786229267251251GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1CX8,ECO:0000269|PubMed:10531064,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19349973;Db
P02786229267240244HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267240244HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267264272HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267264272HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P0278622926789760Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P0278622926789760Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P02786229267236238TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1CX8
P02786229267236238TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1CX8
P02786267300277282Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786267300277282Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P027862673001760ChainID=PRO_0000174132;Note=Transferrin receptor protein 1
P027862673001760ChainID=PRO_0000174132;Note=Transferrin receptor protein 1
P02786267300101760ChainID=PRO_0000292265;Note=Transferrin receptor protein 1%2C serum form
P02786267300101760ChainID=PRO_0000292265;Note=Transferrin receptor protein 1%2C serum form
P02786267300223313DomainNote=PA
P02786267300223313DomainNote=PA
P02786267300264272HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786267300264272HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P0278626730089760Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P0278626730089760Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P02786267300273275TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786267300273275TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786267300285287TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786267300285287TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633604606Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633604606Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P027865596331760ChainID=PRO_0000174132;Note=Transferrin receptor protein 1
P027865596331760ChainID=PRO_0000174132;Note=Transferrin receptor protein 1
P02786559633101760ChainID=PRO_0000292265;Note=Transferrin receptor protein 1%2C serum form
P02786559633101760ChainID=PRO_0000292265;Note=Transferrin receptor protein 1%2C serum form
P02786559633573579HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633573579HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633583603HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633583603HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633613625HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633613625HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633626628HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633626628HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633619619MutagenesisNote=20-fold reduced affinity for transferrin receptor. No binding to HFE. L->A
P02786559633619619MutagenesisNote=20-fold reduced affinity for transferrin receptor. No binding to HFE. L->A
P02786559633622622MutagenesisNote=No significant effect on binding to transferrin nor HFE. V->A
P02786559633622622MutagenesisNote=No significant effect on binding to transferrin nor HFE. V->A
P02786559633623623MutagenesisNote=No significant effect on binding to transferrin nor HFE. R->A
P02786559633623623MutagenesisNote=No significant effect on binding to transferrin nor HFE. R->A
P02786559633629629MutagenesisNote=>5-fold reduced affinity for transferrin. >10-fold reduced affinity for HFE. R->A
P02786559633629629MutagenesisNote=>5-fold reduced affinity for transferrin. >10-fold reduced affinity for HFE. R->A
P02786559633569760RegionNote=Ligand-binding
P02786559633569760RegionNote=Ligand-binding
P0278655963389760Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P0278655963389760Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P02786559633564567TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633564567TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633629636TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633629636TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS


check button 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 featureDescription of feature
P02786229267226230Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267226230Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267232234Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267232234Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267245248Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1CX8
P02786229267245248Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1CX8
P02786229267253259Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267253259Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P027862292671760ChainID=PRO_0000174132;Note=Transferrin receptor protein 1
P027862292671760ChainID=PRO_0000174132;Note=Transferrin receptor protein 1
P02786229267101760ChainID=PRO_0000292265;Note=Transferrin receptor protein 1%2C serum form
P02786229267101760ChainID=PRO_0000292265;Note=Transferrin receptor protein 1%2C serum form
P02786229267223313DomainNote=PA
P02786229267223313DomainNote=PA
P02786229267251251GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1CX8,ECO:0000269|PubMed:10531064,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19349973;Db
P02786229267251251GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1CX8,ECO:0000269|PubMed:10531064,ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19349973;Db
P02786229267240244HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267240244HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267264272HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786229267264272HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P0278622926789760Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P0278622926789760Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P02786229267236238TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1CX8
P02786229267236238TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1CX8
P02786267300277282Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786267300277282Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P027862673001760ChainID=PRO_0000174132;Note=Transferrin receptor protein 1
P027862673001760ChainID=PRO_0000174132;Note=Transferrin receptor protein 1
P02786267300101760ChainID=PRO_0000292265;Note=Transferrin receptor protein 1%2C serum form
P02786267300101760ChainID=PRO_0000292265;Note=Transferrin receptor protein 1%2C serum form
P02786267300223313DomainNote=PA
P02786267300223313DomainNote=PA
P02786267300264272HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786267300264272HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P0278626730089760Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P0278626730089760Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P02786267300273275TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786267300273275TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786267300285287TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786267300285287TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633604606Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633604606Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P027865596331760ChainID=PRO_0000174132;Note=Transferrin receptor protein 1
P027865596331760ChainID=PRO_0000174132;Note=Transferrin receptor protein 1
P02786559633101760ChainID=PRO_0000292265;Note=Transferrin receptor protein 1%2C serum form
P02786559633101760ChainID=PRO_0000292265;Note=Transferrin receptor protein 1%2C serum form
P02786559633573579HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633573579HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633583603HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633583603HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633613625HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633613625HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633626628HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633626628HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633619619MutagenesisNote=20-fold reduced affinity for transferrin receptor. No binding to HFE. L->A
P02786559633619619MutagenesisNote=20-fold reduced affinity for transferrin receptor. No binding to HFE. L->A
P02786559633622622MutagenesisNote=No significant effect on binding to transferrin nor HFE. V->A
P02786559633622622MutagenesisNote=No significant effect on binding to transferrin nor HFE. V->A
P02786559633623623MutagenesisNote=No significant effect on binding to transferrin nor HFE. R->A
P02786559633623623MutagenesisNote=No significant effect on binding to transferrin nor HFE. R->A
P02786559633629629MutagenesisNote=>5-fold reduced affinity for transferrin. >10-fold reduced affinity for HFE. R->A
P02786559633629629MutagenesisNote=>5-fold reduced affinity for transferrin. >10-fold reduced affinity for HFE. R->A
P02786559633569760RegionNote=Ligand-binding
P02786559633569760RegionNote=Ligand-binding
P0278655963389760Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P0278655963389760Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P02786559633564567TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633564567TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633629636TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS
P02786559633629636TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KAS


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SNVs in the skipped exons for TFRC

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
STADTCGA-BR-8081-01exon_skip_420573
195781951195782172195782167195782168Frame_Shift_DelTG-p.561_562del
STADTCGA-BR-8081-01exon_skip_420573
195781951195782172195782167195782168Frame_Shift_DelTG-p.T561fs
HNSCTCGA-F7-A624-01exon_skip_420581
195796326195796439195796404195796404Frame_Shift_DelT-p.K241fs
STADTCGA-BR-8081-01exon_skip_420581
195796326195796439195796404195796404Frame_Shift_DelT-p.D242fs
LIHCTCGA-DD-A1EG-01exon_skip_420606
exon_skip_420603
exon_skip_420597
195802030195802231195802061195802061Frame_Shift_DelC-p.G69fs
KIRPTCGA-5P-A9K0-01exon_skip_420592
exon_skip_420594
195800801195800996195800989195800990Frame_Shift_Ins-ATp.M82fs

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
KS1_CENTRAL_NERVOUS_SYSTEM195796326195796439195796404195796404Frame_Shift_DelT-p.K241fs
NCIH1623_LUNG195781951195782172195782022195782022Missense_MutationCAp.D610Y
KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE195781951195782172195782087195782087Missense_MutationCTp.R588Q
RERFLCAD1_LUNG195781951195782172195782087195782087Missense_MutationCTp.R588Q
SH4_SKIN195781951195782172195782109195782109Missense_MutationGAp.P581S
BB49EBV_MATCHED_NORMAL_TISSUE195781951195782172195782127195782127Missense_MutationCTp.E575K
BB49HNC_UPPER_AERODIGESTIVE_TRACT195781951195782172195782127195782127Missense_MutationCTp.E575K
HMC18_BREAST195781951195782172195782144195782144Missense_MutationGCp.T569S
HUO9_BONE195781951195782172195782144195782144Missense_MutationGCp.T569S
COLO741_SKIN195794903195795001195794937195794937Missense_MutationGAp.P289L
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE195798267195798369195798343195798343Missense_MutationTGp.D204A
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE195798267195798369195798350195798350Missense_MutationTAp.I202L
NCIH854_LUNG195800801195800996195800840195800840Missense_MutationGAp.S132L
SNU1040_LARGE_INTESTINE195800801195800996195800873195800873Missense_MutationCTp.R121H
PATU8902_PANCREAS195800801195800996195800893195800893Missense_MutationCAp.E114D
HCC56_LARGE_INTESTINE195800801195800996195800930195800931Missense_MutationGCTTp.A102K
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE195802030195802231195802102195802102Missense_MutationCTp.V56I
GP5D_LARGE_INTESTINE195803935195803993195803945195803945Missense_MutationAGp.F9S
DMS53_LUNG195800801195800996195800980195800980Nonsense_MutationGTp.Y85*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TFRC

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_4205733195780379:195780429:195781950:195782172:195785154:195785236195781950:195782172ENST00000392396.3,ENST00000540528.1,ENST00000420415.1,ENST00000475593.1,ENST00000535031.1,ENST00000360110.4KIRCrs419068chr3:195782176C/T3.82e-04
exon_skip_4205733195780379:195780429:195781950:195782172:195785154:195785236195781950:195782172ENST00000392396.3,ENST00000540528.1,ENST00000420415.1,ENST00000475593.1,ENST00000535031.1,ENST00000360110.4KIRCrs366268chr3:195782177A/G3.82e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TFRC


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TFRC


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RelatedDrugs for TFRC

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P02786DB01592IronTransferrin receptor protein 1small moleculeapproved
P02786DB14488Ferrous gluconateTransferrin receptor protein 1small moleculeapproved
P02786DB14489Ferrous succinateTransferrin receptor protein 1small moleculeapproved
P02786DB14490Ferrous ascorbateTransferrin receptor protein 1small moleculeapproved
P02786DB14491Ferrous fumarateTransferrin receptor protein 1small moleculeapproved
P02786DB14501Ferrous glycine sulfateTransferrin receptor protein 1small moleculeapproved
P02786DB14520Tetraferric tricitrate decahydrateTransferrin receptor protein 1small moleculeapproved

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RelatedDiseases for TFRC

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
TFRCC0162316Iron deficiency anemia3CTD_human
TFRCC0012715Iron Metabolism Disorders2CTD_human
TFRCC0028754Obesity2CTD_human
TFRCC0079487Helicobacter Infections2CTD_human
TFRCC1458155Mammary Neoplasms2CTD_human
TFRCC0000786Spontaneous abortion1CTD_human
TFRCC0003756Arenaviridae Infections1CTD_human
TFRCC0005283beta Thalassemia1CTD_human
TFRCC0005695Bladder Neoplasm1CTD_human
TFRCC0007621Neoplastic Cell Transformation1CTD_human
TFRCC0009404Colorectal Neoplasms1CTD_human
TFRCC0017638Glioma1CTD_human
TFRCC0021368Inflammation1CTD_human
TFRCC0023434Chronic Lymphocytic Leukemia1CTD_human
TFRCC0024121Lung Neoplasms1CTD_human
TFRCC0024305Lymphoma, Non-Hodgkin1CTD_human
TFRCC0027055Myocardial Reperfusion Injury1CTD_human
TFRCC0032460Polycystic Ovary Syndrome1CTD_human
TFRCC0085110Severe Combined Immunodeficiency1CTD_human
TFRCC0151744Myocardial Ischemia1CTD_human
TFRCC4225219IMMUNODEFICIENCY 461ORPHANET;UNIPROT