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Center for Computational Systems Medicine
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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:MAP4-GTF2H5 (FusionGDB2 ID:51120)

Fusion Gene Summary for MAP4-GTF2H5

check button Fusion gene summary
Fusion gene informationFusion gene name: MAP4-GTF2H5
Fusion gene ID: 51120
HgeneTgene
Gene symbol

MAP4

GTF2H5

Gene ID

4134

404672

Gene namemicrotubule associated protein 4general transcription factor IIH subunit 5
Synonyms-C6orf175|TFB5|TFIIH|TGF2H5|TTD|TTD-A|TTD3|TTDA|bA120J8.2
Cytomap

3p21.31

6q25.3

Type of geneprotein-codingprotein-coding
Descriptionmicrotubule-associated protein 4MAP-4general transcription factor IIH subunit 5TFB5 orthologTFIIH basal transcription factor complex TTD-A subunitTFIIH basal transcription factor complex TTDA subunitgeneral transcription factor IIH, polypeptide 5
Modification date2020031320200313
UniProtAcc.

Q6ZYL4

Ensembl transtripts involved in fusion geneENST00000383737, ENST00000395734, 
ENST00000426837, ENST00000360240, 
ENST00000439356, ENST00000264724, 
ENST00000420772, ENST00000441748, 
ENST00000462206, ENST00000434267, 
ENST00000607778, 
Fusion gene scores* DoF score43 X 31 X 16=2132810 X 6 X 8=480
# samples 6116
** MAII scorelog2(61/21328*10)=-5.12779563263872
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/480*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAP4 [Title/Abstract] AND GTF2H5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAP4(48130263)-GTF2H5(158613009), # samples:2
MAP4(48130263)-GTF2H5(158591502), # samples:2
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

check buttonFusion gene breakpoints across MAP4 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across GTF2H5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4LIHCTCGA-BC-A69H-01AMAP4chr3

48130263

-GTF2H5chr6

158613009

+
ChimerDB4LIHCTCGA-BC-A69HMAP4chr3

48130262

-GTF2H5chr6

158613008

+
ChimerDB4LIHCTCGA-BC-A69H-01AMAP4chr3

48130263

-GTF2H5chr6

158613009

+
ChimerDB4LIHCTCGA-BC-A69H-01AMAP4chr3

48130263

-GTF2H5chr6

158591502

+
ChimerDB4LIHCTCGA-BC-A69H-01AMAP4chr3

48130263

-GTF2H5chr6

158591502

+


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Fusion Gene ORF analysis for MAP4-GTF2H5

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
5UTR-3CDSENST00000383737ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158613009

+
5UTR-3CDSENST00000395734ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158613009

+
5UTR-3CDSENST00000426837ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158613009

+
5UTR-3CDSENST00000360240ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158613009

+
5UTR-3CDSENST00000439356ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158613009

+
intron-3CDSENST00000264724ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158613009

+
intron-3CDSENST00000420772ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158613009

+
intron-3CDSENST00000441748ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158613009

+
intron-3CDSENST00000462206ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158613009

+
intron-3CDSENST00000434267ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158613009

+
5UTR-3CDSENST00000383737ENST00000607778MAP4chr3

48130262

-GTF2H5chr6

158613008

+
5UTR-3CDSENST00000395734ENST00000607778MAP4chr3

48130262

-GTF2H5chr6

158613008

+
5UTR-3CDSENST00000426837ENST00000607778MAP4chr3

48130262

-GTF2H5chr6

158613008

+
5UTR-3CDSENST00000360240ENST00000607778MAP4chr3

48130262

-GTF2H5chr6

158613008

+
5UTR-3CDSENST00000439356ENST00000607778MAP4chr3

48130262

-GTF2H5chr6

158613008

+
intron-3CDSENST00000264724ENST00000607778MAP4chr3

48130262

-GTF2H5chr6

158613008

+
intron-3CDSENST00000420772ENST00000607778MAP4chr3

48130262

-GTF2H5chr6

158613008

+
intron-3CDSENST00000441748ENST00000607778MAP4chr3

48130262

-GTF2H5chr6

158613008

+
intron-3CDSENST00000462206ENST00000607778MAP4chr3

48130262

-GTF2H5chr6

158613008

+
intron-3CDSENST00000434267ENST00000607778MAP4chr3

48130262

-GTF2H5chr6

158613008

+
5UTR-5UTRENST00000383737ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158591502

+
5UTR-5UTRENST00000395734ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158591502

+
5UTR-5UTRENST00000426837ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158591502

+
5UTR-5UTRENST00000360240ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158591502

+
5UTR-5UTRENST00000439356ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158591502

+
intron-5UTRENST00000264724ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158591502

+
intron-5UTRENST00000420772ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158591502

+
intron-5UTRENST00000441748ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158591502

+
intron-5UTRENST00000462206ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158591502

+
intron-5UTRENST00000434267ENST00000607778MAP4chr3

48130263

-GTF2H5chr6

158591502

+

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 MAP4-GTF2H5


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for MAP4-GTF2H5


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.GTF2H5

Q6ZYL4

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell. {ECO:0000269|PubMed:15220921}.

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 MAP4-GTF2H5


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 MAP4-GTF2H5


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 MAP4-GTF2H5


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 MAP4-GTF2H5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAP4C0043094Weight Gain1CTD_human
TgeneGTF2H5C1955934Trichothiodystrophy Syndromes1ORPHANET
TgeneGTF2H5C4017171TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE1CTD_human;GENOMICS_ENGLAND;UNIPROT