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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 TAF1D

check button Gene summary
Gene informationGene symbol

TAF1D

Gene ID

79101

Gene nameTATA-box binding protein associated factor, RNA polymerase I subunit D
SynonymsJOSD3|RAFI41|TAF(I)41|TAFI41
Cytomap

11q21

Type of geneprotein-coding
DescriptionTATA box-binding protein-associated factor RNA polymerase I subunit DJosephin domain containing 3RNA polymerase I-specific TBP-associated factor 41 kDaTATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDaTATA box-binding protein
Modification date20180523
UniProtAcc

Q9H5J8

ContextPubMed: TAF1D [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 TAF1D 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 TAF1D

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 TAF1D

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_767731193463519:93463613:93463842:93463878:93464315:9346438293463842:93463878ENSG00000166012.10ENST00000525928.1,ENST00000546088.1,ENST00000529435.1,ENST00000526015.1,ENST00000534079.1,ENST00000393259.2
exon_skip_767971193463847:93463878:93464315:93464382:93464918:9346496593464315:93464382ENSG00000166012.10ENST00000525928.1,ENST00000546088.1,ENST00000529435.1,ENST00000526015.1,ENST00000540232.1,ENST00000534079.1,ENST00000393259.2
exon_skip_768181193464326:93464382:93464918:93464965:93465409:9346545793464918:93464965ENSG00000166012.10ENST00000525928.1,ENST00000546088.1,ENST00000529435.1,ENST00000530769.1,ENST00000526015.1,ENST00000540232.1,ENST00000534079.1,ENST00000527169.1,ENST00000323981.2,ENST00000530089.2,ENST00000393259.2
exon_skip_768211193465437:93465457:93466252:93466287:93466515:9346656393466252:93466287ENSG00000166012.10ENST00000525928.1,ENST00000546088.1,ENST00000529435.1,ENST00000526015.1,ENST00000323981.2,ENST00000530089.2,ENST00000393259.2
exon_skip_768541193466252:93466287:93466515:93466563:93467790:9346782693466515:93466563ENSG00000166012.10ENST00000540232.1,ENST00000527169.1,ENST00000323981.2,ENST00000533794.1,ENST00000393259.2
exon_skip_768551193466252:93466287:93466515:93466585:93467790:9346782693466515:93466585ENSG00000166012.10ENST00000546088.1,ENST00000529435.1
exon_skip_768561193466252:93466287:93466515:93466671:93467790:9346782693466515:93466671ENSG00000166012.10ENST00000526015.1
exon_skip_768601193466515:93466563:93467790:93467826:93469306:9346940593467790:93467826ENSG00000166012.10ENST00000529794.1,ENST00000540232.1,ENST00000527068.1,ENST00000323981.2,ENST00000533794.1
exon_skip_768611193466515:93466563:93467790:93467826:93469455:9346947093467790:93467826ENSG00000166012.10ENST00000393259.2
exon_skip_768621193466515:93466563:93467790:93467826:93470229:9347040593467790:93467826ENSG00000166012.10ENST00000527169.1
exon_skip_768731193467790:93467826:93469306:93469470:93469859:9346990793469306:93469470ENSG00000166012.10ENST00000526015.1,ENST00000527068.1,ENST00000323981.2
exon_skip_768801193467790:93467826:93469455:93469470:93469859:9346990793469455:93469470ENSG00000166012.10ENST00000393259.2
exon_skip_768871193469455:93469470:93469859:93469917:93470229:9347040593469859:93469917ENSG00000166012.10ENST00000448108.2,ENST00000526015.1,ENST00000323981.2
exon_skip_768901193470321:93470405:93471274:93471606:93472402:9347249793471274:93471606ENSG00000166012.10ENST00000534770.1
exon_skip_768921193470321:93470405:93471274:93471665:93472402:9347249793471274:93471665ENSG00000166012.10ENST00000448108.2,ENST00000526015.1,ENST00000527169.1,ENST00000323981.2
exon_skip_768931193471274:93471665:93472402:93472497:93474487:9347464293472402:93472497ENSG00000166012.10ENST00000448108.2,ENST00000526015.1,ENST00000527169.1

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

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Exon skipping events with PSIs in GTEx for TAF1D

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_767731193463519:93463613:93463842:93463878:93464315:9346438293463842:93463878ENSG00000166012.10ENST00000526015.1,ENST00000534079.1,ENST00000546088.1,ENST00000393259.2,ENST00000525928.1,ENST00000529435.1
exon_skip_767971193463847:93463878:93464315:93464382:93464918:9346496593464315:93464382ENSG00000166012.10ENST00000526015.1,ENST00000534079.1,ENST00000546088.1,ENST00000393259.2,ENST00000525928.1,ENST00000529435.1,ENST00000540232.1
exon_skip_768181193464326:93464382:93464918:93464965:93465409:9346545793464918:93464965ENSG00000166012.10ENST00000323981.2,ENST00000526015.1,ENST00000534079.1,ENST00000546088.1,ENST00000393259.2,ENST00000530769.1,ENST00000525928.1,ENST00000529435.1,ENST00000540232.1,ENST00000527169.1,ENST00000530089.2
exon_skip_768211193465437:93465457:93466252:93466287:93466515:9346656393466252:93466287ENSG00000166012.10ENST00000323981.2,ENST00000526015.1,ENST00000546088.1,ENST00000393259.2,ENST00000525928.1,ENST00000529435.1,ENST00000530089.2
exon_skip_768541193466252:93466287:93466515:93466563:93467790:9346782693466515:93466563ENSG00000166012.10ENST00000323981.2,ENST00000393259.2,ENST00000540232.1,ENST00000527169.1,ENST00000533794.1
exon_skip_768551193466252:93466287:93466515:93466585:93467790:9346782693466515:93466585ENSG00000166012.10ENST00000546088.1,ENST00000529435.1
exon_skip_768561193466252:93466287:93466515:93466671:93467790:9346782693466515:93466671ENSG00000166012.10ENST00000526015.1
exon_skip_768601193466515:93466563:93467790:93467826:93469306:9346940593467790:93467826ENSG00000166012.10ENST00000323981.2,ENST00000540232.1,ENST00000533794.1,ENST00000529794.1,ENST00000527068.1
exon_skip_768611193466515:93466563:93467790:93467826:93469455:9346947093467790:93467826ENSG00000166012.10ENST00000393259.2
exon_skip_768621193466515:93466563:93467790:93467826:93470229:9347040593467790:93467826ENSG00000166012.10ENST00000527169.1
exon_skip_768731193467790:93467826:93469306:93469470:93469859:9346990793469306:93469470ENSG00000166012.10ENST00000323981.2,ENST00000526015.1,ENST00000527068.1
exon_skip_768801193467790:93467826:93469455:93469470:93469859:9346990793469455:93469470ENSG00000166012.10ENST00000393259.2
exon_skip_768871193469455:93469470:93469859:93469917:93470229:9347040593469859:93469917ENSG00000166012.10ENST00000323981.2,ENST00000526015.1,ENST00000448108.2
exon_skip_768901193470321:93470405:93471274:93471606:93472402:9347249793471274:93471606ENSG00000166012.10ENST00000534770.1
exon_skip_768921193470321:93470405:93471274:93471665:93472402:9347249793471274:93471665ENSG00000166012.10ENST00000323981.2,ENST00000526015.1,ENST00000527169.1,ENST00000448108.2
exon_skip_768931193471274:93471665:93472402:93472497:93474487:9347464293472402:93472497ENSG00000166012.10ENST00000526015.1,ENST00000527169.1,ENST00000448108.2
exon_skip_768951193472446:93472497:93475868:93476064:93517469:9351755793475868:93476064ENSG00000166012.10ENST00000527690.1

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 TAF1D

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
ENST0000044810893472402934724973UTR-3CDS
ENST000004481089346985993469917Frame-shift
ENST000004481089347127493471665Frame-shift

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
ENST0000044810893472402934724973UTR-3CDS
ENST000004481089346985993469917Frame-shift
ENST000004481089347127493471665Frame-shift

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Infer the effects of exon skipping event on protein functional features for TAF1D

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

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

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 TAF1D

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.
TAF1D_STAD_exon_skip_76873_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A3A0-01exon_skip_76873
93469307934694709346935593469355Frame_Shift_DelT-p.N270fs
LUADTCGA-69-8253-01exon_skip_76890
93471275934716069347130693471306Frame_Shift_DelT-p.N143fs
LUADTCGA-69-8253-01exon_skip_76892
93471275934716659347130693471306Frame_Shift_DelT-p.N143fs
LIHCTCGA-G3-A3CJ-01exon_skip_76890
93471275934716069347139893471398Frame_Shift_DelC-p.R113fs
LIHCTCGA-G3-A3CJ-01exon_skip_76892
93471275934716659347139893471398Frame_Shift_DelC-p.R113fs
KICHTCGA-KL-8338-01exon_skip_76890
93471275934716069347145393471453Frame_Shift_DelT-p.K94fs
KICHTCGA-KL-8338-01exon_skip_76892
93471275934716659347145393471453Frame_Shift_DelT-p.K94fs
LIHCTCGA-G3-A3CK-01exon_skip_76890
93471275934716069347145393471453Frame_Shift_DelT-p.K96fs
LIHCTCGA-G3-A3CK-01exon_skip_76892
93471275934716659347145393471453Frame_Shift_DelT-p.K96fs
PRADTCGA-EJ-7782-01exon_skip_76890
93471275934716069347145393471453Frame_Shift_DelT-p.K96fs
PRADTCGA-EJ-7782-01exon_skip_76892
93471275934716659347145393471453Frame_Shift_DelT-p.K96fs
STADTCGA-CG-5721-01exon_skip_76890
93471275934716069347145393471453Frame_Shift_DelT-p.K94fs
STADTCGA-CG-5721-01exon_skip_76892
93471275934716659347145393471453Frame_Shift_DelT-p.K94fs
STADTCGA-D7-A4YY-01exon_skip_76890
93471275934716069347145393471453Frame_Shift_DelT-p.K94fs
STADTCGA-D7-A4YY-01exon_skip_76892
93471275934716659347145393471453Frame_Shift_DelT-p.K94fs
LIHCTCGA-DD-A3A0-01exon_skip_76890
93471275934716069347149193471491Frame_Shift_DelA-p.F81fs
LIHCTCGA-DD-A3A0-01exon_skip_76892
93471275934716659347149193471491Frame_Shift_DelA-p.F81fs
LIHCTCGA-DD-A39Y-01exon_skip_76890
93471275934716069347160493471604Frame_Shift_DelC-p.E44fs
LIHCTCGA-DD-A39Y-01exon_skip_76892
93471275934716659347160493471604Frame_Shift_DelC-p.E44fs
COADTCGA-A6-5665-01exon_skip_76890
93471275934716069347145293471453Frame_Shift_Ins-Tp.K94fs
COADTCGA-A6-5665-01exon_skip_76892
93471275934716659347145293471453Frame_Shift_Ins-Tp.K94fs
ESCATCGA-M9-A5M8-01exon_skip_76890
93471275934716069347145293471453Frame_Shift_Ins-Tp.K94fs
ESCATCGA-M9-A5M8-01exon_skip_76890
93471275934716069347145293471453Frame_Shift_Ins-Tp.K95fs
ESCATCGA-M9-A5M8-01exon_skip_76892
93471275934716659347145293471453Frame_Shift_Ins-Tp.K94fs
ESCATCGA-M9-A5M8-01exon_skip_76892
93471275934716659347145293471453Frame_Shift_Ins-Tp.K95fs
UCECTCGA-BK-A0C9-01exon_skip_76890
93471275934716069347145293471453Frame_Shift_Ins-Tp.K94fs
UCECTCGA-BK-A0C9-01exon_skip_76892
93471275934716659347145293471453Frame_Shift_Ins-Tp.K94fs
STADTCGA-CG-4437-01exon_skip_76873
93469307934694709346938093469380Nonsense_MutationTAp.K262*
STADTCGA-CG-4437-01exon_skip_76873
93469307934694709346938093469380Nonsense_MutationTAp.K262X
PRADTCGA-VN-A88O-01exon_skip_76890
93471275934716069347131393471313Nonsense_MutationCAp.E141*
PRADTCGA-VN-A88O-01exon_skip_76892
93471275934716659347131393471313Nonsense_MutationCAp.E141*
BLCATCGA-FD-A3NA-01exon_skip_76890
93471275934716069347153193471531Nonsense_MutationGTp.S68*
BLCATCGA-FD-A3NA-01exon_skip_76892
93471275934716659347153193471531Nonsense_MutationGTp.S68*
UCECTCGA-BS-A0UV-01exon_skip_76890
93471275934716069347159793471597Nonsense_MutationCAp.E32*
UCECTCGA-BS-A0UV-01exon_skip_76892
93471275934716659347159793471597Nonsense_MutationCAp.E32*
ESCATCGA-VR-AA7B-01exon_skip_76887
93469860934699179346985993469859Splice_SiteCG.
ESCATCGA-VR-AA7B-01exon_skip_76887
93469860934699179346985993469859Splice_SiteCGe4+1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
TAF1D_93467790_93467826_93469306_93469470_93469859_93469907_TCGA-CG-4437-01Sample: TCGA-CG-4437-01
Cancer type: STAD
ESID: exon_skip_76873
Skipped exon start: 93469307
Skipped exon end: 93469470
Mutation start: 93469380
Mutation end: 93469380
Mutation type: Nonsense_Mutation
Reference seq: T
Mutation seq: A
AAchange: p.K262X
TAF1D_93467790_93467826_93469306_93469470_93469859_93469907_TCGA-CG-4437-01Sample: TCGA-CG-4437-01
Cancer type: STAD
ESID: exon_skip_76873
Skipped exon start: 93469307
Skipped exon end: 93469470
Mutation start: 93469380
Mutation end: 93469380
Mutation type: Nonsense_Mutation
Reference seq: T
Mutation seq: A
AAchange: p.K262*
exon_skip_335109_STAD_TCGA-CG-4437-01.png
boxplot
exon_skip_335111_STAD_TCGA-CG-4437-01.png
boxplot
exon_skip_388061_STAD_TCGA-CG-4437-01.png
boxplot
exon_skip_388063_STAD_TCGA-CG-4437-01.png
boxplot
exon_skip_388064_STAD_TCGA-CG-4437-01.png
boxplot
exon_skip_388065_STAD_TCGA-CG-4437-01.png
boxplot
exon_skip_388066_STAD_TCGA-CG-4437-01.png
boxplot
exon_skip_76873_STAD_TCGA-CG-4437-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HEC265_ENDOMETRIUM93471275934716069347145393471453Frame_Shift_DelT-p.K96fs
HEC265_ENDOMETRIUM93471275934716659347145393471453Frame_Shift_DelT-p.K96fs
CAL51_BREAST93471275934716069347145393471453Frame_Shift_DelT-p.K96fs
CAL51_BREAST93471275934716659347145393471453Frame_Shift_DelT-p.K96fs
EN_ENDOMETRIUM93471275934716069347145393471453Frame_Shift_DelT-p.K96fs
EN_ENDOMETRIUM93471275934716659347145393471453Frame_Shift_DelT-p.K96fs
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE93471275934716069347145393471453Frame_Shift_DelT-p.K96fs
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE93471275934716659347145393471453Frame_Shift_DelT-p.K96fs
KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE93471275934716069347146493471465Frame_Shift_DelTC-p.R90fs
KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE93471275934716659347146493471465Frame_Shift_DelTC-p.R90fs
NCIH630_LARGE_INTESTINE93471275934716069347130593471306Frame_Shift_Ins-Tp.N143fs
NCIH630_LARGE_INTESTINE93471275934716659347130593471306Frame_Shift_Ins-Tp.N143fs
NCIH1573_LUNG93469307934694709346938293469382Missense_MutationGAp.S261F
SNUC5_LARGE_INTESTINE93469307934694709346942493469424Missense_MutationAGp.V247A
SNU398_LIVER93469860934699179346986893469868Missense_MutationTGp.K229Q
SNUC2A_LARGE_INTESTINE93471275934716069347130493471304Missense_MutationCTp.A144T
SNUC2A_LARGE_INTESTINE93471275934716659347130493471304Missense_MutationCTp.A144T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE93471275934716069347130493471304Missense_MutationCTp.A144T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE93471275934716659347130493471304Missense_MutationCTp.A144T
SNUC2B_LARGE_INTESTINE93471275934716069347130493471304Missense_MutationCTp.A144T
SNUC2B_LARGE_INTESTINE93471275934716659347130493471304Missense_MutationCTp.A144T
LB647PBL_MATCHED_NORMAL_TISSUE93471275934716069347130493471304Missense_MutationCTp.A144T
LB647PBL_MATCHED_NORMAL_TISSUE93471275934716659347130493471304Missense_MutationCTp.A144T
LB647SCLC_LUNG93471275934716069347130493471304Missense_MutationCTp.A144T
LB647SCLC_LUNG93471275934716659347130493471304Missense_MutationCTp.A144T
NCIH847_LUNG93471275934716069347141493471414Missense_MutationCAp.G107V
NCIH847_LUNG93471275934716659347141493471414Missense_MutationCAp.G107V
EN_ENDOMETRIUM93471275934716069347147793471477Missense_MutationTAp.N86I
EN_ENDOMETRIUM93471275934716659347147793471477Missense_MutationTAp.N86I
OVK18_OVARY93471275934716069347154493471544Missense_MutationAGp.S64P
OVK18_OVARY93471275934716659347154493471544Missense_MutationAGp.S64P
JEG3_PLACENTA93471275934716069347156893471568Missense_MutationGAp.P56S
JEG3_PLACENTA93471275934716659347156893471568Missense_MutationGAp.P56S
HCC1395_MATCHED_NORMAL_TISSUE93471275934716069347157993471579Missense_MutationACp.F52C
HCC1395_MATCHED_NORMAL_TISSUE93471275934716659347157993471579Missense_MutationACp.F52C
ETK1_BILIARY_TRACT93472403934724979347246093472460Missense_MutationGAp.S4L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TAF1D

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TAF1D


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TAF1D


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RelatedDrugs for TAF1D

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 TAF1D

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
TAF1DC0037274Dermatologic disorders1CTD_human
TAF1DC0311375Arsenic Poisoning1CTD_human