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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:GTF3C3-COL5A2 (FusionGDB2 ID:HG9330TG1290)

Fusion Gene Summary for GTF3C3-COL5A2

Fusion gene summary

Fusion gene information	Fusion gene name: GTF3C3-COL5A2
	Fusion gene ID: hg9330tg1290
		Hgene	Tgene
	Gene symbol	GTF3C3	COL5A2
	Gene ID	9330	1290
	Gene name	general transcription factor IIIC subunit 3	collagen type V alpha 2 chain
	Synonyms	TFIIIC102\|TFIIICgamma\|TFiiiC2-102	EDSC\|EDSCL2
	Cytomap	('GTF3C3')('COL5A2') 2q33.1	2q32.2
	Type of gene	protein-coding	protein-coding
	Description	general transcription factor 3C polypeptide 3TF3C-gammaTFIIIC 102 kDa subunitgeneral transcription factor IIIC, polypeptide 3, 102kDatranscription factor IIIC subunit gamma	collagen alpha-2(V) chainAB collagencollagen, fetal membrane, A polypeptidetype V preprocollagen alpha 2 chain
	Modification date	20200313	20200313
	UniProtAcc	Q9Y5Q9	P05997
	Ensembl transtripts involved in fusion gene	ENST00000263956, ENST00000409364, ENST00000470386,
Fusion gene scores	* DoF score	2 X 3 X 2=12	8 X 9 X 4=288
	# samples	3	9
	** MAII score	log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(9/288*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: GTF3C3 [Title/Abstract] AND COL5A2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	GTF3C3(197643759)-COL5A2(189917694), # samples:2 GTF3C3(197645282)-COL5A2(189917528), # samples:2
Anticipated loss of major functional domain due to fusion event.	GTF3C3-COL5A2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. GTF3C3-COL5A2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. GTF3C3-COL5A2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. GTF3C3-COL5A2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	COL5A2	GO:1903225	negative regulation of endodermal cell differentiation	23154389

Fusion gene breakpoints across GTF3C3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across COL5A2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	ESCA	TCGA-VR-A8EW-01A	GTF3C3	chr2	197643759	-	COL5A2	chr2	189917694	-
ChimerDB4	ESCA	TCGA-VR-A8EW	GTF3C3	chr2	197643759	-	COL5A2	chr2	189917694	-
ChimerDB4	ESCA	TCGA-VR-A8EW	GTF3C3	chr2	197645282	-	COL5A2	chr2	189917528	-

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Fusion Gene ORF analysis for GTF3C3-COL5A2

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
In-frame	ENST00000263956	ENST00000374866	GTF3C3	chr2	197645282	-	COL5A2	chr2	189917528	-
intron-3CDS	ENST00000263956	ENST00000374866	GTF3C3	chr2	197643759	-	COL5A2	chr2	189917694	-
intron-3CDS	ENST00000409364	ENST00000374866	GTF3C3	chr2	197643759	-	COL5A2	chr2	189917694	-
intron-3CDS	ENST00000409364	ENST00000374866	GTF3C3	chr2	197645282	-	COL5A2	chr2	189917528	-
intron-3CDS	ENST00000470386	ENST00000374866	GTF3C3	chr2	197643759	-	COL5A2	chr2	189917694	-
intron-3CDS	ENST00000470386	ENST00000374866	GTF3C3	chr2	197645282	-	COL5A2	chr2	189917528	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

ENST00000263956

GTF3C3

chr2

197645282

ENST00000374866

COL5A2

chr2

189917528

5321

1308

3146

1037

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000263956	ENST00000374866	GTF3C3	chr2	197645282	-	COL5A2	chr2	189917528	-	0.000108975	0.99989104

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Fusion Genomic Features for GTF3C3-COL5A2

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

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Fusion Protein Features for GTF3C3-COL5A2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:197643759/chr2:189917694)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
GTF3C3 Q9Y5Q9	COL5A2 P05997
FUNCTION: Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters.	FUNCTION: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific matrices (By similarity). {ECO:0000250}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000263956

92_114

406

887.0

Compositional bias

Note=Glu-rich

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000263956

149_182

406

887.0

Repeat

Note=TPR 1

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000263956

183_216

406

887.0

Repeat

Note=TPR 2

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000263956

217_250

406

887.0

Repeat

Note=TPR 3

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000263956

252_284

406

887.0

Repeat

Note=TPR 4

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000263956

290_323

406

887.0

Repeat

Note=TPR 5

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000263956

326_361

406

887.0

Repeat

Note=TPR 6

Tgene

COL5A2

chr2:197645282

chr2:189917528

ENST00000374866

1266_1499

887

1500.0

Domain

Fibrillar collagen NC1

Tgene

COL5A2

chr2:197645282

chr2:189917528

ENST00000374866

1067_1069

887

1500.0

Motif

Cell attachment site

Tgene

COL5A2

chr2:197645282

chr2:189917528

ENST00000374866

1070_1072

887

1500.0

Motif

Cell attachment site

Tgene

COL5A2

chr2:197645282

chr2:189917528

ENST00000374866

1100_1102

887

1500.0

Motif

Cell attachment site

Tgene

COL5A2

chr2:197645282

chr2:189917528

ENST00000374866

1127_1129

887

1500.0

Motif

Cell attachment site

Tgene

COL5A2

chr2:197645282

chr2:189917528

ENST00000374866

1136_1138

887

1500.0

Motif

Cell attachment site

Tgene

COL5A2

chr2:197645282

chr2:189917528

ENST00000374866

944_946

887

1500.0

Motif

Cell attachment site

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000409364

92_114

414.0

Compositional bias

Note=Glu-rich

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000263956

421_454

406

887.0

Repeat

Note=TPR 7

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000263956

456_489

406

887.0

Repeat

Note=TPR 8

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000263956

491_523

406

887.0

Repeat

Note=TPR 9

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000263956

733_766

406

887.0

Repeat

Note=TPR 10

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000263956

811_844

406

887.0

Repeat

Note=TPR 11

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000409364

149_182

414.0

Repeat

Note=TPR 1

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000409364

183_216

414.0

Repeat

Note=TPR 2

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000409364

217_250

414.0

Repeat

Note=TPR 3

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000409364

252_284

414.0

Repeat

Note=TPR 4

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000409364

290_323

414.0

Repeat

Note=TPR 5

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000409364

326_361

414.0

Repeat

Note=TPR 6

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000409364

421_454

414.0

Repeat

Note=TPR 7

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000409364

456_489

414.0

Repeat

Note=TPR 8

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000409364

491_523

414.0

Repeat

Note=TPR 9

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000409364

733_766

414.0

Repeat

Note=TPR 10

Hgene

GTF3C3

chr2:197645282

chr2:189917528

ENST00000409364

811_844

414.0

Repeat

Note=TPR 11

Tgene

COL5A2

chr2:197645282

chr2:189917528

ENST00000374866

39_97

887

1500.0

Domain

VWFC

Tgene

COL5A2

chr2:197645282

chr2:189917528

ENST00000374866

506_508

887

1500.0

Motif

Cell attachment site

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Fusion Gene Sequence for GTF3C3-COL5A2

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.

>35282_35282_1_GTF3C3-COL5A2_GTF3C3_chr2_197645282_ENST00000263956_COL5A2_chr2_189917528_ENST00000374866_length(transcript)=5321nt_BP=1308nt
TGCTGGCCCCGGCGAGGTAGCTTCTGGAAGGCGCTGCTCTTCCGGTTCTCTGTCCCGGTTCCTGGGGTTGCACAGACAGACCCTGTAAAC
ATGTCAGGGTTCAGTCCGGAACTCATCGACTACTTGGAAGGGAAAATCTCCTTTGAGGAGTTCGAACGGCGGAGAGAAGAGAGAAAAACC
CGCGAGAAGAAAAGTCTTCAGGAAAAAGGCAAGTTATCAGCTGAAGAAAATCCCGATGACTCTGAAGTTCCATCATCATCAGGAATTAAC
TCTACCAAATCCCAAGACAAAGATGTCAATGAAGGAGAAACATCAGATGGAGTGAGGAAGTCAGTTCACAAGGTCTTTGCTTCCATGCTT
GGAGAGAATGAAGATGATGAGGAGGAAGAGGAAGAAGAGGAGGAGGAGGAGGAGGAGGAAGAAACACCTGAGCAACCCACTGCGGGCGAT
GTATTTGTATTGGAGATGGTTCTCAATCGTGAAACCAAGAAAATGATGAAAGAGAAAAGGCCTCGGAGTAAACTTCCCAGAGCTCTGAGA
GGTCTCATGGGTGAAGCCAACATTCGTTTTGCTCGAGGAGAACGTGAAGAGGCGATATTGATGTGCATGGAAATCATAAGACAAGCTCCT
CTGGCTTATGAGCCATTCTCTACTCTAGCCATGATATATGAGGACCAAGGTGACATGGAAAAATCATTGCAGTTTGAGTTGATTGCTGCG
CATTTAAATCCCAGTGACACAGAAGAATGGGTTAGACTGGCAGAAATGTCTCTGGAACAAGACAATATTAAGCAGGCTATTTTTTGCTAT
ACAAAAGCTCTTAAATATGAACCTACTAATGTCCGTTATCTGTGGGAGCGATCAAGCCTTTATGAACAGATGGGTGATCATAAAATGGCC
ATGGATGGTTATAGGCGTATTTTAAACCTTTTGTCTCCATCTGATGGCGAACGTTTTATGCAGCTGGCTAGAGATATGGCAAAGAGTTAC
TATGAAGCCAATGATGTTACTTCTGCTATTAACATAATTGATGAAGCTTTCTCAAAACACCAGGGCCTAGTCTCCATGGAAGATGTTAAC
ATAGCAGCTGAACTATATATTTCTAACAAACAGTATGACAAAGCTTTGGAGATAATTACAGATTTTTCTGGAATTGTGCTGGAAAAAAAA
ACTTCAGAAGAAGGCACCTCAGAAGAGAATAAAGCTCCTGAGAATGTTACCTGCACTATACCTGATGGCGTGCCAATAGATATCACAGTG
AAGTTGATGGTCTGCCTTGTACATCTCAACATTCTTGAACCACTTAATGGTCCTAATGGTGTTCCTGGACTAAAAGGTGGTCGAGGAACC
CAAGGTCCGCCTGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGGAGCTCCAGGACCTGCGGGACCC
CTAGGGGAACCCGGGAAGGAGGGACCTCCAGGTCTTCGTGGGGACCCTGGCTCTCATGGGCGTGTGGGAGATCGAGGACCAGCTGGCCCC
CCTGGTGGCCCAGGAGACAAAGGGGACCCAGGAGAAGATGGGCAACCTGGTCCAGATGGCCCCCCTGGTCCAGCTGGAACGACCGGGCAG
AGAGGAATTGTTGGCATGCCTGGGCAACGTGGAGAGAGAGGCATGCCCGGCCTACCAGGCCCAGCGGGAACACCAGGAAAAGTAGGACCA
ACTGGTGCAACAGGAGATAAAGGTCCACCTGGACCTGTGGGGCCCCCAGGCTCCAATGGTCCTGTAGGGGAACCTGGACCAGAAGGTCCA
GCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGGTGATCGTGGAGACCCTGGGCCTGCAGGTCTGCCAGGCTCT
CAGGGTGCCCCTGGAACTCCTGGCCCTGTGGGTGCTCCAGGAGATGCAGGACAAAGAGGAGATCCGGGTTCTCGGGGTCCTATAGGACCA
CCTGGTCGAGCTGGGAAACGTGGATTACCTGGACCCCAAGGACCTCGTGGTGACAAAGGTGATCATGGAGACCGAGGTGACAGAGGTCAG
AAGGGCCACAGAGGCTTTACTGGTCTTCAGGGTCTTCCTGGCCCTCCTGGTCCAAATGGTGAACAAGGAAGTGCTGGAATCCCTGGACCA
TTTGGCCCAAGAGGTCCTCCAGGCCCAGTTGGTCCTTCAGGTAAAGAAGGAAACCCTGGGCCACTTGGGCCAATTGGACCTCCAGGTGTA
CGAGGCAGTGTAGGAGAAGCAGGACCTGAGGGCCCTCCTGGTGAGCCTGGCCCACCTGGCCCTCCGGGTCCCCCTGGCCACCTTACAGCT
GCTCTTGGGGATATCATGGGGCACTATGATGAAAGCATGCCAGATCCACTTCCTGAGTTTACTGAAGATCAGGCGGCTCCTGATGACAAA
AACAAAACGGACCCAGGGGTTCATGCTACCCTGAAGTCACTCAGTAGTCAGATTGAAACCATGCGCAGCCCCGATGGCTCGAAAAAGCAC
CCAGCCCGCACGTGTGATGACCTAAAGCTTTGCCATTCCGCAAAGCAGAGTGGTGAATACTGGATTGATCCTAACCAAGGATCTGTTGAA
GATGCAATCAAAGTTTACTGCAACATGGAAACAGGAGAAACATGTATTTCAGCAAACCCATCCAGTGTACCACGTAAAACCTGGTGGGCC
AGTAAATCTCCTGACAATAAACCTGTTTGGTATGGTCTTGATATGAACAGAGGGTCTCAGTTCGCTTATGGAGACCACCAATCACCTAAT
ACAGCCATTACTCAGATGACTTTTTTGCGCCTTTTATCAAAAGAAGCCTCCCAGAACATCACTTACATCTGTAAAAACAGTGTAGGATAC
ATGGACGATCAAGCTAAGAACCTCAAAAAAGCTGTGGTTCTCAAAGGGGCAAATGACTTAGATATCAAAGCAGAGGGAAATATTAGATTC
CGGTATATCGTTCTTCAAGACACTTGCTCTAAGCGGAATGGAAATGTGGGCAAGACTGTCTTTGAATATAGAACACAGAATGTGGCACGC
TTGCCCATCATAGATCTTGCTCCTGTGGATGTTGGCGGCACAGACCAGGAATTCGGCGTTGAAATTGGGCCAGTTTGTTTTGTGTAAAGT
AAGCCAAGACACATCGACAATGAGCACCACCATCAATGACCACCGCCATTCACAAGAACTTTGACTGTTTGAAGTTGATCCTGAGACTCT
TGAAGTAATGGCTGATCCTGCATCAGCATTGTATATATGGTCTTAAGTGCCTGGCCTCCTTATCCTTCAGAATATTTATTTTACTTACAA
TCCTCAAGTTTTAATTGATTTTAAATATTTTTCAATACAACAGTTTAGGTTTAAGATGACCAATGACAATGACCACCTTTGCAGAAAGTA
AACTGATTGAATAAATAAATCTCCGTTTTCTTCAATTTATTTCAGTGTAATGAAAAAGTTGCTTAGTATTTATGAGGAAATTCTTCTTCC
TGGCAGGTAGCTTAAAGAGTGGGGTATATAGAGCCACAACACATGTTTATTTTGCTTGGCTGCAGTTGAAAAATAGAAATTAGTGCCCTT
TTGTGACCTCTCATTCCAAGATTGTCAATTAAAAATGAGTTTAAAATGTTTAACTTGTGATCGAGACCTACATGCATGTCTTGATATTGT
GTAACTATAATAGAGACTCTTTAAGGAGAATCTTAAAAAAAAAAAAACGTTTCTCACTGTCTTAAATAGAATTTTTAAATAGTATATATT
CAGTGGCATTTTGGAGAACAAAGTGAATTTACTTCGACTTCTTAAATTTTTGTAAAAGACTATAAGTTTAGACATCTTTCTCATTCAAAT
TTAAAGATATCTTTCTCCTCTTGATCAATCTATCAATATTGATAGAAGTCACACTAGTATATACCATTTAATACATTTACACTTTCTTAT
TTAAGAAGATATTGAATGCAAAATAATTGACATATAGAACTTTACAAACATATGTCCAAGGACTCTAAATTGAGACTCTTCCACATGTAC
AATCTCATCATCCTGAAGCCTATAATGAAGAAAAAGATCTAGAAACTGAGTTGTGGAGCTGACTCTAATCAAATGTGATGATTGGAATTA
GACCATTTGGCCTTTGAACTTTCATAGGAAAAATGACCCAACATTTCTTAGCATGAGCTACCTCATCTCTAGAAGCTGGGATGGACTTAC
TATTCTTGTTTATATTTTAGATACTGAAAGGTGCTATGCTTCTGTTATTATTCCAAGACTGGAGATAGGCAGGGCTAAAAAGGTATTATT
ATTTTTCCTTTAATGATGGTGCTAAAATTCTTCCTATAAAATTCCTTAAAAATAAAGATGGTTTAATCACTACCATTGTGAAAACATAAC
TGTTAGACTTCCCGTTTCTGAAAGAAAGAGCATCGTTCCAATGCTTGTTCACTGTTCCTCTGTCATACTGTATCTGGAATGCTTTGTAAT
ACTTGCATGCTTCTTAGACCAGAACATGTAGGTCCCCTTGTGTCTCAATACTTTTTTTTTCTTAATTGCATTTGTTGGCTCTATTTTAAT
TTTTTTCTTTTAAAATAAACAGCTGGGACCATCCCAAAAGACAAGCCATGCATACAACTTTGGTCATGTATCTCTGCAAAGCATCAAATT
AAATGCACGCTTTTGTCATGTCAGTGGTTTTTGTTTTGTGAAATTCCTTTGACCATATTAGATCTATTTCATTTCCAATAGTGAAAAGGA
GATGTGGTGGTATACTTTGTTTGCCATTTGTTTAAAAGATACAACGGATACCTTCTATCATGTATGTACTGGCTTATAAATGAAAATCTA
TCTACAACATTACCCACAAAGGCAACATGACACCAATTATCACTGCCTCTGCCCTTAAAAATGTCAGAGTAGTATTATTGATAAAAAGGG
CAAGCAATAGATTTTTCATGACTGAATAAACTGTAATAATAAAACATATGTCTCAAAGTGTATCACATATGAATTTAGCCTAATTGTTTT
CAGTTTCATTCTCAATATTTAGTTTACAACATCATTTTCCCCTAAACTGGTTATATTTTGACCTGTATATCTTAAATTTGAGTATTTATA
TGCCTAAATACATGTGTGAGTTTTGTTTGACTTCCAAGTCCAAACTATAAGATTATATAAGTTCATATAGATGAATCAGAAATATGTGGT
AATACTATTAAGTCACAAACACTAACAATTTCCAACTATAGAAATAACAGTTCTTATTTGGATTTTGGGAATGCTACCAATAAAAGCCTG

>35282_35282_1_GTF3C3-COL5A2_GTF3C3_chr2_197645282_ENST00000263956_COL5A2_chr2_189917528_ENST00000374866_length(amino acids)=1037AA_BP=455
MLFRFSVPVPGVAQTDPVNMSGFSPELIDYLEGKISFEEFERRREERKTREKKSLQEKGKLSAEENPDDSEVPSSSGINSTKSQDKDVNE
GETSDGVRKSVHKVFASMLGENEDDEEEEEEEEEEEEEEETPEQPTAGDVFVLEMVLNRETKKMMKEKRPRSKLPRALRGLMGEANIRFA
RGEREEAILMCMEIIRQAPLAYEPFSTLAMIYEDQGDMEKSLQFELIAAHLNPSDTEEWVRLAEMSLEQDNIKQAIFCYTKALKYEPTNV
RYLWERSSLYEQMGDHKMAMDGYRRILNLLSPSDGERFMQLARDMAKSYYEANDVTSAINIIDEAFSKHQGLVSMEDVNIAAELYISNKQ
YDKALEIITDFSGIVLEKKTSEEGTSEENKAPENVTCTIPDGVPIDITVKLMVCLVHLNILEPLNGPNGVPGLKGGRGTQGPPGATGFPG
SAGRVGPPGPAGAPGPAGPLGEPGKEGPPGLRGDPGSHGRVGDRGPAGPPGGPGDKGDPGEDGQPGPDGPPGPAGTTGQRGIVGMPGQRG
ERGMPGLPGPAGTPGKVGPTGATGDKGPPGPVGPPGSNGPVGEPGPEGPAGNDGTPGRDGAVGERGDRGDPGPAGLPGSQGAPGTPGPVG
APGDAGQRGDPGSRGPIGPPGRAGKRGLPGPQGPRGDKGDHGDRGDRGQKGHRGFTGLQGLPGPPGPNGEQGSAGIPGPFGPRGPPGPVG
PSGKEGNPGPLGPIGPPGVRGSVGEAGPEGPPGEPGPPGPPGPPGHLTAALGDIMGHYDESMPDPLPEFTEDQAAPDDKNKTDPGVHATL
KSLSSQIETMRSPDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSVEDAIKVYCNMETGETCISANPSSVPRKTWWASKSPDNKPVWY
GLDMNRGSQFAYGDHQSPNTAITQMTFLRLLSKEASQNITYICKNSVGYMDDQAKNLKKAVVLKGANDLDIKAEGNIRFRYIVLQDTCSK

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Fusion Gene PPI Analysis for GTF3C3-COL5A2

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for GTF3C3-COL5A2

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for GTF3C3-COL5A2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	GTF3C3	C0036572	Seizures	1	GENOMICS_ENGLAND
Hgene	GTF3C3	C0557874	Global developmental delay	1	GENOMICS_ENGLAND
Hgene	GTF3C3	C3714756	Intellectual Disability	1	GENOMICS_ENGLAND
Tgene		C4538407	EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2	4	GENOMICS_ENGLAND;UNIPROT
Tgene		C4552122	EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	3	GENOMICS_ENGLAND
Tgene		C0220679	Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified	2	ORPHANET
Tgene		C3151201	MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME	2	GENOMICS_ENGLAND
Tgene		C0000786	Spontaneous abortion	1	CTD_human
Tgene		C0000822	Abortion, Tubal	1	CTD_human
Tgene		C0005779	Blood Coagulation Disorders	1	GENOMICS_ENGLAND
Tgene		C0023890	Liver Cirrhosis	1	CTD_human
Tgene		C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Tgene		C0239946	Fibrosis, Liver	1	CTD_human
Tgene		C0268335	Ehlers-Danlos syndrome type 1	1	GENOMICS_ENGLAND
Tgene		C0268336	Ehlers-Danlos syndrome type 2	1	GENOMICS_ENGLAND
Tgene		C1458140	Bleeding tendency	1	GENOMICS_ENGLAND
Tgene		C1846545	Autoimmune Lymphoproliferative Syndrome Type 2B	1	GENOMICS_ENGLAND
Tgene		C3830362	Early Pregnancy Loss	1	CTD_human
Tgene		C4225429	Ehlers-Danlos syndrome classic type	1	GENOMICS_ENGLAND
Tgene		C4552766	Miscarriage	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:GTF3C3-COL5A2 (FusionGDB2 ID:HG9330TG1290)

Fusion Gene Summary for GTF3C3-COL5A2

Fusion Gene ORF analysis for GTF3C3-COL5A2

Fusion Genomic Features for GTF3C3-COL5A2

Fusion Protein Features for GTF3C3-COL5A2

Fusion Gene Sequence for GTF3C3-COL5A2

Fusion Gene PPI Analysis for GTF3C3-COL5A2

Related Drugs for GTF3C3-COL5A2

Related Diseases for GTF3C3-COL5A2

Fusion Gene Studies
in Kim Lab