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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:TAF1-COL4A1 (FusionGDB2 ID:HG6872TG1282)

Fusion Gene Summary for TAF1-COL4A1

check button Fusion gene summary
Fusion gene informationFusion gene name: TAF1-COL4A1
Fusion gene ID: hg6872tg1282
HgeneTgene
Gene symbol

TAF1

COL4A1

Gene ID

6872

1282

Gene nameTATA-box binding protein associated factor 1collagen type IV alpha 1 chain
SynonymsBA2R|CCG1|CCGS|DYT3|DYT3/TAF1|KAT4|MRXS33|N-TAF1|NSCL2|OF|P250|TAF(II)250|TAF2A|TAFII-250|TAFII250|XDPBSVD|BSVD1|PADMAL|RATOR
Cytomap('TAF1')('COL4A1')

Xq13.1

13q34

Type of geneprotein-codingprotein-coding
Descriptiontranscription initiation factor TFIID subunit 1TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDaTBP-associated factor 250 kDacell cycle gene 1 proteincell cycle, G1 phase defectcomplementation of cell cycle block, G1-tocollagen alpha-1(IV) chainCOL4A1 NC1 domainarrestencollagen IV, alpha-1 polypeptidecollagen of basement membrane, alpha-1 chain
Modification date2020031320200313
UniProtAcc.

P02462

Ensembl transtripts involved in fusion geneENST00000276072, ENST00000373790, 
ENST00000423759, ENST00000449580, 
ENST00000461764, 
Fusion gene scores* DoF score5 X 6 X 3=9014 X 14 X 7=1372
# samples 516
** MAII scorelog2(5/90*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1372*10)=-3.10013667128545
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TAF1 [Title/Abstract] AND COL4A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTAF1(70599878)-COL4A1(110801310), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTAF1

GO:0000209

protein polyubiquitination

20181722

HgeneTAF1

GO:0006468

protein phosphorylation

18548200

HgeneTAF1

GO:0006511

ubiquitin-dependent protein catabolic process

20181722

HgeneTAF1

GO:0006974

cellular response to DNA damage stimulus

24289924

HgeneTAF1

GO:0018105

peptidyl-serine phosphorylation

8625415

HgeneTAF1

GO:0018107

peptidyl-threonine phosphorylation

15053879|24289924

HgeneTAF1

GO:0032092

positive regulation of protein binding

17237821

HgeneTAF1

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

15053879

HgeneTAF1

GO:0034644

cellular response to UV

24289924

HgeneTAF1

GO:0036369

transcription factor catabolic process

20181722

HgeneTAF1

GO:0045944

positive regulation of transcription by RNA polymerase II

17996705

HgeneTAF1

GO:0046777

protein autophosphorylation

8625415|20181722|24289924

HgeneTAF1

GO:0050821

protein stabilization

17237821

HgeneTAF1

GO:0071318

cellular response to ATP

24289924

HgeneTAF1

GO:1903026

negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding

24289924

HgeneTAF1

GO:1905524

negative regulation of protein autoubiquitination

17237821

HgeneTAF1

GO:2000825

positive regulation of androgen receptor activity

20181722



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABI491029TAF1chrX

70599878

+COL4A1chr13

110801310

+


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Fusion Gene ORF analysis for TAF1-COL4A1

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000276072ENST00000375820TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000276072ENST00000467182TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000276072ENST00000543140TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000373790ENST00000375820TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000373790ENST00000467182TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000373790ENST00000543140TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000423759ENST00000375820TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000423759ENST00000467182TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000423759ENST00000543140TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000449580ENST00000375820TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000449580ENST00000467182TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000449580ENST00000543140TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000461764ENST00000375820TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000461764ENST00000467182TAF1chrX

70599878

+COL4A1chr13

110801310

+
intron-intronENST00000461764ENST00000543140TAF1chrX

70599878

+COL4A1chr13

110801310

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for TAF1-COL4A1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for TAF1-COL4A1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:70599878/:110801310)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.COL4A1

P02462

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. {ECO:0000250|UniProtKB:P02463}.; FUNCTION: Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. {ECO:0000269|PubMed:10811134, ECO:0000269|PubMed:18775695}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for TAF1-COL4A1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for TAF1-COL4A1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for TAF1-COL4A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for TAF1-COL4A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTAF1C1839130Dystonia 3, Torsion, X-Linked3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneTAF1C4225418MENTAL RETARDATION, X-LINKED, SYNDROMIC 332CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneTAF1C0557874Global developmental delay1GENOMICS_ENGLAND
HgeneTAF1C3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4551998Porencephaly, Type 1, Autosomal Dominant18CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC2673195Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1843512BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0018965Hematuria3GENOMICS_ENGLAND
TgeneC0266548Axenfeld anomaly (disorder)3CTD_human;GENOMICS_ENGLAND
TgeneC1860475Retinal vascular tortuosity3GENOMICS_ENGLAND
TgeneC0011881Diabetic Nephropathy2CTD_human
TgeneC0017667Nodular glomerulosclerosis2CTD_human
TgeneC0017668Focal glomerulosclerosis2CTD_human
TgeneC0086432Hyalinosis, Segmental Glomerular2CTD_human
TgeneC0265341Rieger syndrome2CTD_human
TgeneC0266484Schizencephaly2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0302892Congenital porencephaly2CTD_human
TgeneC1280768Axenfeld syndrome2CTD_human
TgeneC1867983PORENCEPHALY, FAMILIAL2CTD_human;ORPHANET
TgeneC2675650Brain Small Vessel Disease With Axenfeld-Rieger Anomaly2CTD_human
TgeneC2678503AXENFELD-RIEGER SYNDROME, TYPE 32CTD_human
TgeneC3281105HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO2GENOMICS_ENGLAND;UNIPROT
TgeneC3495488Axenfeld-Rieger syndrome2CTD_human
TgeneC3698507Post-traumatic Porencephaly2CTD_human
TgeneC3714873Axenfeld-Rieger Syndrome, Type 12CTD_human
TgeneC4082173Porencephaly2CTD_human
TgeneC4082301Developmental Porencephaly2CTD_human
TgeneC0002878Anemia, Hemolytic1CTD_human
TgeneC0002879Anemia, Hemolytic, Acquired1CTD_human
TgeneC0002889Anemia, Microangiopathic1CTD_human
TgeneC0015393Eye Abnormalities1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0026848Myopathy1GENOMICS_ENGLAND
TgeneC0027726Nephrotic Syndrome1CTD_human
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0038454Cerebrovascular accident1GENOMICS_ENGLAND
TgeneC0149931Migraine Disorders1GENOMICS_ENGLAND
TgeneC0221021Microangiopathic hemolytic anemia1CTD_human
TgeneC0265221Walker-Warburg congenital muscular dystrophy1ORPHANET
TgeneC0270612Leukoencephalopathy1CTD_human
TgeneC0338656Impaired cognition1GENOMICS_ENGLAND
TgeneC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneC0497327Dementia1GENOMICS_ENGLAND
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC1135196Heart Failure, Diastolic1CTD_human
TgeneC1858991Childhood Ataxia with Central Nervous System Hypomyelinization1CTD_human
TgeneC1867327RETINAL ARTERIES, TORTUOSITY OF1CTD_human;ORPHANET;UNIPROT
TgeneC2733158Cerebral Small Vessel Diseases1GENOMICS_ENGLAND
TgeneC2930808Familial vascular leukoencephalopathy1ORPHANET
TgeneC2931870Familial schizencephaly1ORPHANET
TgeneC4013035BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES1GENOMICS_ENGLAND