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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 TGFBI

check button Gene summary
Gene informationGene symbol

TGFBI

Gene ID

7045

Gene nametransforming growth factor beta induced
SynonymsBIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1
Cytomap

5q31.1

Type of geneprotein-coding
Descriptiontransforming growth factor-beta-induced protein ig-h3RGD-CAPRGD-containing collagen-associated proteinbeta ig-h3betaig-h3kerato-epithelintransforming growth factor beta-induced 68kDatransforming growth factor, beta-induced, 68kD
Modification date20180527
UniProtAcc

Q15582

ContextPubMed: TGFBI [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

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Exon skipping events across known transcript of Ensembl for TGFBI 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 TGFBI

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 TGFBI

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4376605135364827:135364878:135369451:135369550:135379746:135379811135369451:135369550ENSG00000120708.12ENST00000507018.1,ENST00000506699.1,ENST00000504185.1,ENST00000305126.8
exon_skip_4376615135369451:135369550:135379746:135379811:135382023:135382129135379746:135379811ENSG00000120708.12ENST00000507018.1,ENST00000506699.1,ENST00000305126.8,ENST00000442011.2
exon_skip_4376625135379746:135379811:135380470:135380559:135382023:135382129135380470:135380559ENSG00000120708.12ENST00000504185.1
exon_skip_4376635135382539:135382704:135382962:135383109:135385127:135385167135382962:135383109ENSG00000120708.12ENST00000507018.1,ENST00000305126.8,ENST00000442011.2
exon_skip_4376645135383106:135383109:135383941:135384038:135385127:135385167135383941:135384038ENSG00000120708.12ENST00000506699.1
exon_skip_4376715135383106:135383109:135385127:135385269:135388595:135388808135385127:135385269ENSG00000120708.12ENST00000507018.1,ENST00000604555.1,ENST00000305126.8,ENST00000442011.2
exon_skip_4376755135385204:135385269:135388595:135388808:135389631:135389724135388595:135388808ENSG00000120708.12ENST00000507018.1,ENST00000506699.1,ENST00000604555.1,ENST00000305126.8,ENST00000515433.1,ENST00000514554.1,ENST00000442011.2
exon_skip_4376815135385127:135385269:135388706:135388808:135389631:135389724135388706:135388808ENSG00000120708.12ENST00000508767.1
exon_skip_4376865135388706:135388808:135389631:135389769:135390404:135390507135389631:135389769ENSG00000120708.12ENST00000507018.1,ENST00000506699.1,ENST00000604555.1,ENST00000305126.8,ENST00000515433.1,ENST00000514554.1,ENST00000442011.2,ENST00000508767.1
exon_skip_4376985135391368:135391505:135392137:135392219:135392353:135392484135392137:135392219ENSG00000120708.12ENST00000509485.1
exon_skip_4377055135396524:135396625:135397188:135397268:135398874:135399507135397188:135397268ENSG00000120708.12ENST00000503087.1
exon_skip_4377085135397188:135397268:135397296:135397321:135398874:135399504135397296:135397321ENSG00000120708.12ENST00000305126.8
exon_skip_4377105135397195:135397268:135398351:135398376:135398874:135399061135398351:135398376ENSG00000120708.12ENST00000507018.1,ENST00000506699.1,ENST00000504411.1,ENST00000508076.1,ENST00000442011.2

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

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Exon skipping events with PSIs in GTEx for TGFBI

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4376605135364827:135364878:135369451:135369550:135379746:135379811135369451:135369550ENSG00000120708.12ENST00000504185.1,ENST00000506699.1,ENST00000305126.8,ENST00000507018.1
exon_skip_4376615135369451:135369550:135379746:135379811:135382023:135382129135379746:135379811ENSG00000120708.12ENST00000442011.2,ENST00000506699.1,ENST00000305126.8,ENST00000507018.1
exon_skip_4376625135379746:135379811:135380470:135380559:135382023:135382129135380470:135380559ENSG00000120708.12ENST00000504185.1
exon_skip_4376635135382539:135382704:135382962:135383109:135385127:135385167135382962:135383109ENSG00000120708.12ENST00000442011.2,ENST00000305126.8,ENST00000507018.1
exon_skip_4376645135383106:135383109:135383941:135384038:135385127:135385167135383941:135384038ENSG00000120708.12ENST00000506699.1
exon_skip_4376715135383106:135383109:135385127:135385269:135388595:135388808135385127:135385269ENSG00000120708.12ENST00000442011.2,ENST00000305126.8,ENST00000507018.1,ENST00000604555.1
exon_skip_4376755135385204:135385269:135388595:135388808:135389631:135389724135388595:135388808ENSG00000120708.12ENST00000442011.2,ENST00000506699.1,ENST00000305126.8,ENST00000507018.1,ENST00000515433.1,ENST00000604555.1,ENST00000514554.1
exon_skip_4376815135385127:135385269:135388706:135388808:135389631:135389724135388706:135388808ENSG00000120708.12ENST00000508767.1
exon_skip_4376865135388706:135388808:135389631:135389769:135390404:135390507135389631:135389769ENSG00000120708.12ENST00000442011.2,ENST00000506699.1,ENST00000305126.8,ENST00000507018.1,ENST00000515433.1,ENST00000508767.1,ENST00000604555.1,ENST00000514554.1
exon_skip_4376985135391368:135391505:135392137:135392219:135392353:135392484135392137:135392219ENSG00000120708.12ENST00000509485.1
exon_skip_4377055135396524:135396625:135397188:135397268:135398874:135399507135397188:135397268ENSG00000120708.12ENST00000503087.1
exon_skip_4377085135397188:135397268:135397296:135397321:135398874:135399504135397296:135397321ENSG00000120708.12ENST00000305126.8
exon_skip_4377105135397195:135397268:135398351:135398376:135398874:135399061135398351:135398376ENSG00000120708.12ENST00000442011.2,ENST00000506699.1,ENST00000507018.1,ENST00000508076.1,ENST00000504411.1

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 TGFBI

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
ENST00000442011135379746135379811Frame-shift
ENST00000442011135385127135385269Frame-shift
ENST00000442011135398351135398376Frame-shift
ENST00000442011135382962135383109In-frame
ENST00000442011135388595135388808In-frame
ENST00000442011135389631135389769In-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
ENST00000442011135379746135379811Frame-shift
ENST00000442011135385127135385269Frame-shift
ENST00000442011135398351135398376Frame-shift
ENST00000442011135382962135383109In-frame
ENST00000442011135388595135388808In-frame
ENST00000442011135389631135389769In-frame

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

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
ENST000004420112821683135382962135383109786932208257
ENST00000442011282168313538859513538880810751287304375
ENST00000442011282168313538963113538976912881425375421

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
ENST000004420112821683135382962135383109786932208257
ENST00000442011282168313538859513538880810751287304375
ENST00000442011282168313538963113538976912881425375421

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


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


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SNVs in the skipped exons for TGFBI

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.
TGFBI_HNSC_exon_skip_437675_psi_boxplot.png
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TGFBI_LIHC_exon_skip_437675_psi_boxplot.png
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TGFBI_LUSC_exon_skip_437675_psi_boxplot.png
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check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LUADTCGA-91-6828-01exon_skip_437661
135379747135379811135379758135379758Frame_Shift_DelA-p.Y82fs
LIHCTCGA-DD-A1EG-01exon_skip_437661
135379747135379811135379790135379790Frame_Shift_DelG-p.G93fs
SKCMTCGA-EE-A3JI-06exon_skip_437663
135382963135383109135382971135382972Frame_Shift_DelTG-p.211_211del
SKCMTCGA-EE-A3JI-06exon_skip_437663
135382963135383109135382971135382972Frame_Shift_DelTG-p.TV211fs
LIHCTCGA-DD-A39Y-01exon_skip_437675
135388596135388808135388703135388703Frame_Shift_DelG-p.G341fs
HNSCTCGA-CV-7235-01exon_skip_437675
135388596135388808135388800135388801Frame_Shift_DelCA-p.P373fs
HNSCTCGA-CV-7235-01exon_skip_437681
135388707135388808135388800135388801Frame_Shift_DelCA-p.P373fs
LUSCTCGA-33-6737-01exon_skip_437675
135388596135388808135388806135388806Nonsense_MutationCGp.S375*
LUSCTCGA-33-6737-01exon_skip_437681
135388707135388808135388806135388806Nonsense_MutationCGp.S375*
UCECTCGA-A5-A0GP-01exon_skip_437686
135389632135389769135389745135389745Nonsense_MutationGAp.W38*
HNSCTCGA-BA-6869-01exon_skip_437661
135379747135379811135379745135379745Splice_SiteAGp.T78_splice
UCECTCGA-D1-A101-01exon_skip_437661
135379747135379811135379745135379746Splice_SiteAG-e3-1
UCECTCGA-D1-A101-01exon_skip_437661
135379747135379811135379745135379746Splice_SiteAG-p.T78_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
TGFBI_135385204_135385269_135388595_135388808_135389631_135389724_TCGA-33-6737-01Sample: TCGA-33-6737-01
Cancer type: LUSC
ESID: exon_skip_437675
Skipped exon start: 135388596
Skipped exon end: 135388808
Mutation start: 135388806
Mutation end: 135388806
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: G
AAchange: p.S375*
TGFBI_135385204_135385269_135388595_135388808_135389631_135389724_TCGA-33-6737-01Sample: TCGA-33-6737-01
Cancer type: LUSC
ESID: exon_skip_437681
Skipped exon start: 135388707
Skipped exon end: 135388808
Mutation start: 135388806
Mutation end: 135388806
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: G
AAchange: p.S375*
exon_skip_325972_LUSC_TCGA-33-6737-01.png
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exon_skip_437675_LUSC_TCGA-33-6737-01.png
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TGFBI_135385204_135385269_135388595_135388808_135389631_135389724_TCGA-CV-7235-01Sample: TCGA-CV-7235-01
Cancer type: HNSC
ESID: exon_skip_437675
Skipped exon start: 135388596
Skipped exon end: 135388808
Mutation start: 135388800
Mutation end: 135388801
Mutation type: Frame_Shift_Del
Reference seq: CA
Mutation seq: -
AAchange: p.P373fs
TGFBI_135385204_135385269_135388595_135388808_135389631_135389724_TCGA-CV-7235-01Sample: TCGA-CV-7235-01
Cancer type: HNSC
ESID: exon_skip_437681
Skipped exon start: 135388707
Skipped exon end: 135388808
Mutation start: 135388800
Mutation end: 135388801
Mutation type: Frame_Shift_Del
Reference seq: CA
Mutation seq: -
AAchange: p.P373fs
exon_skip_437675_HNSC_TCGA-CV-7235-01.png
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exon_skip_437681_HNSC_TCGA-CV-7235-01.png
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TGFBI_135385204_135385269_135388595_135388808_135389631_135389724_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_437675
Skipped exon start: 135388596
Skipped exon end: 135388808
Mutation start: 135388703
Mutation end: 135388703
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.G341fs
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106523_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106524_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_109527_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_109529_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_110000_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_11029_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_111893_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_111894_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_112042_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_112647_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_114045_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_114046_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_114565_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_11916_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_1234_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_1237_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_124639_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_124693_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_124695_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_130535_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_13071_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_131505_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_133556_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_135211_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_135545_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_135553_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_135763_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_137564_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_138947_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_139222_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_141370_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_141945_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_143515_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_143728_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_14772_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_148319_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_148332_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_14897_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_150985_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_151979_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_153387_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_153494_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_153786_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_155021_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_155962_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_155964_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_19897_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_19898_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_19902_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_20050_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_20053_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_21823_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_22411_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_22908_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_23470_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_24870_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_25336_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_26316_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_26461_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_26958_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_27038_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_27415_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_283977_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_284046_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_289275_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_291046_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_291218_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_291361_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_292293_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_292562_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293040_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293045_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293052_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293118_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293546_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293549_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_294064_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_294067_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_29565_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_29733_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_299242_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_299287_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_299304_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_299306_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_299307_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_30001_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_300924_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_301267_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_301272_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_302090_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_302094_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_302095_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_302097_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_3064_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_306549_LIHC_TCGA-DD-A39Y-01.png
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TGFBI_135385127_135385269_135388706_135388808_135389631_135389724_TCGA-33-6737-01Sample: TCGA-33-6737-01
Cancer type: LUSC
ESID: exon_skip_437675
Skipped exon start: 135388596
Skipped exon end: 135388808
Mutation start: 135388806
Mutation end: 135388806
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: G
AAchange: p.S375*
TGFBI_135385127_135385269_135388706_135388808_135389631_135389724_TCGA-33-6737-01Sample: TCGA-33-6737-01
Cancer type: LUSC
ESID: exon_skip_437681
Skipped exon start: 135388707
Skipped exon end: 135388808
Mutation start: 135388806
Mutation end: 135388806
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: G
AAchange: p.S375*
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TGFBI_135385127_135385269_135388706_135388808_135389631_135389724_TCGA-CV-7235-01Sample: TCGA-CV-7235-01
Cancer type: HNSC
ESID: exon_skip_437675
Skipped exon start: 135388596
Skipped exon end: 135388808
Mutation start: 135388800
Mutation end: 135388801
Mutation type: Frame_Shift_Del
Reference seq: CA
Mutation seq: -
AAchange: p.P373fs
TGFBI_135385127_135385269_135388706_135388808_135389631_135389724_TCGA-CV-7235-01Sample: TCGA-CV-7235-01
Cancer type: HNSC
ESID: exon_skip_437681
Skipped exon start: 135388707
Skipped exon end: 135388808
Mutation start: 135388800
Mutation end: 135388801
Mutation type: Frame_Shift_Del
Reference seq: CA
Mutation seq: -
AAchange: p.P373fs
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
SNU349_KIDNEY135369452135369550135369537135369538Frame_Shift_DelTG-p.C74fs
SW900_LUNG135385128135385269135385200135385200Frame_Shift_DelA-p.N282fs
451LU_SKIN135369452135369550135369534135369535Frame_Shift_Ins-TCp.I73fs
HCC366_LUNG135369452135369550135369491135369491Missense_MutationTAp.N58K
COLO792_SKIN135369452135369550135369493135369493Missense_MutationGAp.R59K
SNU1040_LARGE_INTESTINE135379747135379811135379791135379791Missense_MutationGAp.G93E
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE135382963135383109135382970135382970Missense_MutationCTp.T211I
OSC19_UPPER_AERODIGESTIVE_TRACT135382963135383109135383107135383107Missense_MutationCTp.R257W
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE135385128135385269135385135135385135Missense_MutationTCp.V260A
KYSE220_OESOPHAGUS135385128135385269135385261135385261Missense_MutationCTp.A302V
EFE184_ENDOMETRIUM135388596135388808135388724135388724Missense_MutationGAp.G348R
EFE184_ENDOMETRIUM135388707135388808135388724135388724Missense_MutationGAp.G348R
22RV1_PROSTATE135389632135389769135389674135389674Missense_MutationCTp.T390I
SW684_SOFT_TISSUE135389632135389769135389731135389731Missense_MutationGAp.R409Q
LS411N_LARGE_INTESTINE135389632135389769135389746135389746Missense_MutationCTp.A414V
L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE135397189135397268135397207135397207Missense_MutationGTp.R642I
SNU1214_UPPER_AERODIGESTIVE_TRACT135397189135397268135397219135397219Missense_MutationTGp.L646R
NCIH661_LUNG135397189135397268135397258135397258Missense_MutationCAp.A659E
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE135379747135379811135379810135379810Splice_SiteACp.A99A

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_4376635135382539:135382704:135382962:135383109:135385127:135385167135382962:135383109ENST00000507018.1,ENST00000305126.8,ENST00000442011.2COADrs1442chr5:135382989G/C5.69e-04
exon_skip_4376635135382539:135382704:135382962:135383109:135385127:135385167135382962:135383109ENST00000507018.1,ENST00000305126.8,ENST00000442011.2COADrs1442chr5:135382989G/C5.69e-04

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


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


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RelatedDrugs for TGFBI

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TGFBI

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
TGFBIC1690006Lattice corneal dystrophy Type I12CTD_human;ORPHANET;UNIPROT
TGFBIC1641846Groenouw corneal dystrophy type I (disorder)7CTD_human;ORPHANET;UNIPROT
TGFBIC1275685Avellino corneal dystrophy6CTD_human;ORPHANET;UNIPROT
TGFBIC0339278Reis-Bucklers' corneal dystrophy5CTD_human;ORPHANET;UNIPROT
TGFBIC1837974Corneal Dystrophy, Lattice Type IIIA5CTD_human;UNIPROT
TGFBIC1562894Thiel-Behnke corneal dystrophy4CTD_human;ORPHANET;UNIPROT
TGFBIC0000786Spontaneous abortion1CTD_human
TGFBIC0011881Diabetic Nephropathy1CTD_human
TGFBIC0521723Corneal dystrophy, epithelial basement membrane1CTD_human;ORPHANET;UNIPROT