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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:A1BG-ITIH4

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: A1BG-ITIH4
	FusionPDB ID: 4
	FusionGDB2.0 ID: 4
		Hgene	Tgene
	Gene symbol	A1BG	ITIH4
	Gene ID	1	3700
	Gene name	alpha-1-B glycoprotein	inter-alpha-trypsin inhibitor heavy chain 4
	Synonyms	A1B\|ABG\|GAB\|HYST2477	GP120\|H4P\|IHRP\|ITI-HC4\|ITIHL1\|PK-120\|PK120
	Cytomap	19q13.43	3p21.1
	Type of gene	protein-coding	protein-coding
	Description	alpha-1B-glycoproteinHEL-S-163pAepididymis secretory sperm binding protein Li 163pA	inter-alpha-trypsin inhibitor heavy chain H4ITI heavy chain H4inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)inter-alpha-inhibitor heavy chain 4inter-alpha-trypsin inhibitor family heavy chain-related proteininter-alpha
	Modification date	20200313	20200320
	UniProtAcc	P04217	Q14624
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000263100, ENST00000596924,	ENST00000434759, ENST00000467462, ENST00000266041, ENST00000346281, ENST00000406595, ENST00000485816,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	3 X 3 X 2=18	7 X 6 X 3=126
	# samples	3	7
	** MAII score	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: A1BG [Title/Abstract] AND ITIH4 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	A1BG(58862757)-ITIH4(52852299), # samples:8
Anticipated loss of major functional domain due to fusion event.	A1BG-ITIH4 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. A1BG-ITIH4 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. A1BG-ITIH4 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. A1BG-ITIH4 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

Fusion gene breakpoints across A1BG (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 ITIH4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	Non-Cancer	TCGA-BC-A10Q-11A	A1BG	chr19	58862757	-	ITIH4	chr3	52852299	-
ChimerDB4	Non-Cancer	TCGA-BC-A110-11A	A1BG	chr19	58862757	-	ITIH4	chr3	52852299	-
ChimerDB4	Non-Cancer	TCGA-BD-A2L6-11A	A1BG	chr19	58862757	-	ITIH4	chr3	52852299	-
ChimerDB4	Non-Cancer	TCGA-DD-A116-11A	A1BG	chr19	58862757	-	ITIH4	chr3	52852299	-
ChimerDB4	Non-Cancer	TCGA-DD-A1EE-11A	A1BG	chr19	58862757	-	ITIH4	chr3	52852299	-
ChimerDB4	Non-Cancer	TCGA-DD-A39Z-11A	A1BG	chr19	58862757	-	ITIH4	chr3	52852299	-
ChimerDB4	Non-Cancer	TCGA-ES-A2HT-11A	A1BG	chr19	58862757	-	ITIH4	chr3	52852299	-
ChimerDB4	Non-Cancer	TCGA-FV-A3I1-11A	A1BG	chr19	58862757	-	ITIH4	chr3	52852299	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000263100	A1BG	chr19	58862757	-	ENST00000266041	ITIH4	chr3	52852299	-	2059	972	8	1612	534
ENST00000263100	A1BG	chr19	58862757	-	ENST00000346281	ITIH4	chr3	52852299	-	2086	972	8	1654	548
ENST00000263100	A1BG	chr19	58862757	-	ENST00000485816	ITIH4	chr3	52852299	-	1764	972	8	1612	534
ENST00000263100	A1BG	chr19	58862757	-	ENST00000406595	ITIH4	chr3	52852299	-	1752	972	8	1612	534

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
ENST00000263100	ENST00000266041	A1BG	chr19	58862757	-	ITIH4	chr3	52852299	-	0.04543154	0.95456845
ENST00000263100	ENST00000346281	A1BG	chr19	58862757	-	ITIH4	chr3	52852299	-	0.06449732	0.9355027
ENST00000263100	ENST00000485816	A1BG	chr19	58862757	-	ITIH4	chr3	52852299	-	0.051572826	0.9484272
ENST00000263100	ENST00000406595	A1BG	chr19	58862757	-	ITIH4	chr3	52852299	-	0.05345321	0.9465468

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>4_4_1_A1BG-ITIH4_A1BG_chr19_58862757_ENST00000263100_ITIH4_chr3_52852299_ENST00000266041_length(amino acids)=534AA_BP=316
MLQTLTPDTHCTGVSATIMSMLVVFLLLWGVTWGPVTEAAIFYETQPSLWAESESLLKPLANVTLTCQAHLETPDFQLFKNGVAQEPVHL
DSPAIKHQFLLTGDTQGRYRCRSGLSTGWTQLSKLLELTGPKSLPAPWLSMAPVSWITPGLKTTAVCRGVLRGVTFLLRREGDHEFLEVP
EAQEDVEATFPVHQPGNYSCSYRTDGEGALSEPSATVTIEELAAPPPPVLMHHGESSQVLHPGNKVTLTCVAPLSGVDFQLRRGEKELLV
PRSSTSPDRIFFHLNAVALGDGGHYTCRYRLHDNQNGWSGDSAPVELILSDETTMTTQTPAPIQAPSAILPLPGQSVERLCVDPRHRQGP
VNLLSDPEQGVEVTGQYEREKAGFSWIEVTFKNPLVWVHASPEHVVVTRNRRSSAYKWKETLFSVMPGLKMTMDKTGLLLLSDPDKVTIG

--------------------------------------------------------------

>4_4_2_A1BG-ITIH4_A1BG_chr19_58862757_ENST00000263100_ITIH4_chr3_52852299_ENST00000346281_length(amino acids)=548AA_BP=316
MLQTLTPDTHCTGVSATIMSMLVVFLLLWGVTWGPVTEAAIFYETQPSLWAESESLLKPLANVTLTCQAHLETPDFQLFKNGVAQEPVHL
DSPAIKHQFLLTGDTQGRYRCRSGLSTGWTQLSKLLELTGPKSLPAPWLSMAPVSWITPGLKTTAVCRGVLRGVTFLLRREGDHEFLEVP
EAQEDVEATFPVHQPGNYSCSYRTDGEGALSEPSATVTIEELAAPPPPVLMHHGESSQVLHPGNKVTLTCVAPLSGVDFQLRRGEKELLV
PRSSTSPDRIFFHLNAVALGDGGHYTCRYRLHDNQNGWSGDSAPVELILSDETTMTTQTPACPSCSRSRAPAVPAPIQAPSAILPLPGQS
VERLCVDPRHRQGPVNLLSDPEQGVEVTGQYEREKAGFSWIEVTFKNPLVWVHASPEHVVVTRNRRSSAYKWKETLFSVMPGLKMTMDKT
GLLLLSDPDKVTIGLLFWDGRGEGLRLLLRDTDRFSSHVGGTLGQFYQEVLWGSPAASDDGRRTLRVQGNDHSATRERRLDYQEGPPGVE

--------------------------------------------------------------

>4_4_3_A1BG-ITIH4_A1BG_chr19_58862757_ENST00000263100_ITIH4_chr3_52852299_ENST00000406595_length(amino acids)=534AA_BP=316
MLQTLTPDTHCTGVSATIMSMLVVFLLLWGVTWGPVTEAAIFYETQPSLWAESESLLKPLANVTLTCQAHLETPDFQLFKNGVAQEPVHL
DSPAIKHQFLLTGDTQGRYRCRSGLSTGWTQLSKLLELTGPKSLPAPWLSMAPVSWITPGLKTTAVCRGVLRGVTFLLRREGDHEFLEVP
EAQEDVEATFPVHQPGNYSCSYRTDGEGALSEPSATVTIEELAAPPPPVLMHHGESSQVLHPGNKVTLTCVAPLSGVDFQLRRGEKELLV
PRSSTSPDRIFFHLNAVALGDGGHYTCRYRLHDNQNGWSGDSAPVELILSDETTMTTQTPAPIQAPSAILPLPGQSVERLCVDPRHRQGP
VNLLSDPEQGVEVTGQYEREKAGFSWIEVTFKNPLVWVHASPEHVVVTRNRRSSAYKWKETLFSVMPGLKMTMDKTGLLLLSDPDKVTIG

--------------------------------------------------------------

>4_4_4_A1BG-ITIH4_A1BG_chr19_58862757_ENST00000263100_ITIH4_chr3_52852299_ENST00000485816_length(amino acids)=534AA_BP=316
MLQTLTPDTHCTGVSATIMSMLVVFLLLWGVTWGPVTEAAIFYETQPSLWAESESLLKPLANVTLTCQAHLETPDFQLFKNGVAQEPVHL
DSPAIKHQFLLTGDTQGRYRCRSGLSTGWTQLSKLLELTGPKSLPAPWLSMAPVSWITPGLKTTAVCRGVLRGVTFLLRREGDHEFLEVP
EAQEDVEATFPVHQPGNYSCSYRTDGEGALSEPSATVTIEELAAPPPPVLMHHGESSQVLHPGNKVTLTCVAPLSGVDFQLRRGEKELLV
PRSSTSPDRIFFHLNAVALGDGGHYTCRYRLHDNQNGWSGDSAPVELILSDETTMTTQTPAPIQAPSAILPLPGQSVERLCVDPRHRQGP
VNLLSDPEQGVEVTGQYEREKAGFSWIEVTFKNPLVWVHASPEHVVVTRNRRSSAYKWKETLFSVMPGLKMTMDKTGLLLLSDPDKVTIG

--------------------------------------------------------------

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:58862757/chr3:52852299)
- 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
A1BG P04217	ITIH4 Q14624
	FUNCTION: Type II acute-phase protein (APP) involved in inflammatory responses to trauma. May also play a role in liver development or regeneration. {ECO:0000269\|PubMed:19263524}.

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.

- 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

A1BG

chr19:58862757

chr3:52852299

ENST00000263100

114_206

303.3333333333333

496.0

Domain

Note=Ig-like V-type 2

Hgene

A1BG

chr19:58862757

chr3:52852299

ENST00000263100

207_299

303.3333333333333

496.0

Domain

Note=Ig-like V-type 3

Hgene

A1BG

chr19:58862757

chr3:52852299

ENST00000263100

22_113

303.3333333333333

496.0

Domain

Note=Ig-like V-type 1

Tgene

ITIH4

chr19:58862757

chr3:52852299

ENST00000266041

719_725

717.3333333333334

931.0

Region

Note=O-glycosylated at three sites

Tgene

ITIH4

chr19:58862757

chr3:52852299

ENST00000346281

719_725

687.3333333333334

915.0

Region

Note=O-glycosylated at three sites

Tgene

ITIH4

chr19:58862757

chr3:52852299

ENST00000406595

719_725

687.3333333333334

901.0

Region

Note=O-glycosylated at three sites

- 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

A1BG

chr19:58862757

chr3:52852299

ENST00000263100

300_397

303.3333333333333

496.0

Domain

Note=Ig-like V-type 4

Hgene

A1BG

chr19:58862757

chr3:52852299

ENST00000263100

398_495

303.3333333333333

496.0

Domain

Note=Ig-like V-type 5

Tgene

ITIH4

chr19:58862757

chr3:52852299

ENST00000266041

272_432

717.3333333333334

931.0

Domain

VWFA

Tgene

ITIH4

chr19:58862757

chr3:52852299

ENST00000266041

29_148

717.3333333333334

931.0

Domain

VIT

Tgene

ITIH4

chr19:58862757

chr3:52852299

ENST00000346281

272_432

687.3333333333334

915.0

Domain

VWFA

Tgene

ITIH4

chr19:58862757

chr3:52852299

ENST00000346281

29_148

687.3333333333334

915.0

Domain

VIT

Tgene

ITIH4

chr19:58862757

chr3:52852299

ENST00000406595

272_432

687.3333333333334

901.0

Domain

VWFA

Tgene

ITIH4

chr19:58862757

chr3:52852299

ENST00000406595

29_148

687.3333333333334

901.0

Domain

VIT

Tgene

ITIH4

chr19:58862757

chr3:52852299

ENST00000266041

658_688

717.3333333333334

931.0

Region

Note=Proline-rich (PRR) potential bioactive peptide

Tgene

ITIH4

chr19:58862757

chr3:52852299

ENST00000346281

658_688

687.3333333333334

915.0

Region

Note=Proline-rich (PRR) potential bioactive peptide

Tgene

ITIH4

chr19:58862757

chr3:52852299

ENST00000406595

658_688

687.3333333333334

901.0

Region

Note=Proline-rich (PRR) potential bioactive peptide

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1171_A1BG_58862757_ITIH4_52852299_1171_A1BG_58862757_ITIH4_52852299_ranked_0.pdb	A1BG	58862757	58862757	ENST00000406595	ITIH4	chr3	52852299	-	MLQTLTPDTHCTGVSATIMSMLVVFLLLWGVTWGPVTEAAIFYETQPSLWAESESLLKPLANVTLTCQAHLETPDFQLFKNGVAQEPVHL DSPAIKHQFLLTGDTQGRYRCRSGLSTGWTQLSKLLELTGPKSLPAPWLSMAPVSWITPGLKTTAVCRGVLRGVTFLLRREGDHEFLEVP EAQEDVEATFPVHQPGNYSCSYRTDGEGALSEPSATVTIEELAAPPPPVLMHHGESSQVLHPGNKVTLTCVAPLSGVDFQLRRGEKELLV PRSSTSPDRIFFHLNAVALGDGGHYTCRYRLHDNQNGWSGDSAPVELILSDETTMTTQTPACPSCSRSRAPAVPAPIQAPSAILPLPGQS VERLCVDPRHRQGPVNLLSDPEQGVEVTGQYEREKAGFSWIEVTFKNPLVWVHASPEHVVVTRNRRSSAYKWKETLFSVMPGLKMTMDKT GLLLLSDPDKVTIGLLFWDGRGEGLRLLLRDTDRFSSHVGGTLGQFYQEVLWGSPAASDDGRRTLRVQGNDHSATRERRLDYQEGPPGVE	548

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

A1BG_pLDDT.png

ITIH4_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
A1BG
ITIH4

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to A1BG-ITIH4

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to A1BG-ITIH4

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source