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Fusion Protein:NF1-ABCB5

Fusion Gene and Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: NF1-ABCB5
	FusionPDB ID: 58665
	FusionGDB2.0 ID: 58665
		Hgene	Tgene
	Gene symbol	NF1	ABCB5
	Gene ID	4763	340273
	Gene name	neurofibromin 1	ATP binding cassette subfamily B member 5
	Synonyms	NFNS\|VRNF\|WSS	ABCB5alpha\|ABCB5beta\|EST422562
	Cytomap	17q11.2	7p21.1
	Type of gene	protein-coding	protein-coding
	Description	neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1	ATP-binding cassette sub-family B member 5ABCB5 P-gpATP-binding cassette proteinATP-binding cassette, sub-family B (MDR/TAP), member 5P-glycoprotein ABCB5
	Modification date	20200322	20200313
	UniProtAcc	P21359 Main function of 5'-partner protein: FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269\|PubMed:2121371, ECO:0000269\|PubMed:8417346}.	Q2M3G0 Main function of 5'-partner protein: FUNCTION: Energy-dependent efflux transporter responsible for decreased drug accumulation in multidrug-resistant cells (PubMed:12960149, PubMed:22306008, PubMed:15899824, PubMed:15205344). Specifically present in limbal stem cells, where it plays a key role in corneal development and repair (By similarity). {ECO:0000250\|UniProtKB:B5X0E4, ECO:0000269\|PubMed:12960149, ECO:0000269\|PubMed:15205344, ECO:0000269\|PubMed:15899824, ECO:0000269\|PubMed:22306008}.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000356175, ENST00000358273, ENST00000417592, ENST00000444181, ENST00000431387, ENST00000581113,	ENST00000258738, ENST00000406935, ENST00000443026, ENST00000477094, ENST00000404938,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	47 X 26 X 21=25662	8 X 7 X 5=280
	# samples	69	8
	** MAII score	log2(69/25662*10)=-5.21689344093196 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Fusion gene context	PubMed: NF1 [Title/Abstract] AND ABCB5 [Title/Abstract] AND fusion [Title/Abstract]
Fusion neoantigen context	PubMed: NF1 [Title/Abstract] AND ABCB5 [Title/Abstract] AND neoantigen [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	NF1(29676269)-ABCB5(20671682), # samples:1
Anticipated loss of major functional domain due to fusion event.	NF1-ABCB5 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. NF1-ABCB5 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. NF1-ABCB5 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. NF1-ABCB5 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
Hgene	NF1	GO:0043547	positive regulation of GTPase activity	2121371
Tgene	ABCB5	GO:0042391	regulation of membrane potential	12960149
Tgene	ABCB5	GO:0055085	transmembrane transport	12960149

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:29676269/chr7:20671682)
- 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.

Retention analysis results 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, are available here.

Fusion gene breakpoints across NF1 (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 ABCB5 (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 Amino Acid Sequences

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)
ENST00000356175	NF1	chr17	29676269	-	ENST00000404938	ABCB5	chr7	20671682	+	12541	7641	254	11155	3633
ENST00000358273	NF1	chr17	29676269	-	ENST00000404938	ABCB5	chr7	20671682	+	12604	7704	254	11218	3654
ENST00000417592	NF1	chr17	29676269	-	ENST00000404938	ABCB5	chr7	20671682	+	5364	464	4	3978	1324
ENST00000444181	NF1	chr17	29676269	-	ENST00000404938	ABCB5	chr7	20671682	+	5604	704	4	4218	1404

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
ENST00000356175	ENST00000404938	NF1	chr17	29676269	-	ABCB5	chr7	20671682	+	0.000388255	0.9996118
ENST00000358273	ENST00000404938	NF1	chr17	29676269	-	ABCB5	chr7	20671682	+	0.000386059	0.99961394
ENST00000417592	ENST00000404938	NF1	chr17	29676269	-	ABCB5	chr7	20671682	+	0.000214898	0.9997851
ENST00000444181	ENST00000404938	NF1	chr17	29676269	-	ABCB5	chr7	20671682	+	0.000206679	0.99979335

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

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

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Fusion Protein Breakpoint Sequences for NF1-ABCB5

+/-13 AA sequence from the breakpoints of the fusion protein sequences.

Hgene	Hchr	Hbp	Tgene	Tchr	Tbp	Length(fusion protein)	BP in fusion protein	Peptide
NF1	chr17	29676269	ABCB5	chr7	20671682	464	153	KFEVNTQSVAYLAANYQNCTQSQEKL
NF1	chr17	29676269	ABCB5	chr7	20671682	704	233	KFEVNTQSVAYLAANYQNCTQSQEKL
NF1	chr17	29676269	ABCB5	chr7	20671682	7641	2462	KFEVNTQSVAYLAANYQNCTQSQEKL
NF1	chr17	29676269	ABCB5	chr7	20671682	7704	2483	KFEVNTQSVAYLAANYQNCTQSQEKL

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Potential FusionNeoAntigen Information of NF1-ABCB5 in HLA I

Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.

NF1-ABCB5_29676269_20671682.msa

Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)

Fusion gene	Hchr	Hbp	Tgene	Tchr	Tbp	HLA I	FusionNeoAntigen peptide	Binding score	Immunogenic score	Neoantigen start (at BP 13)	Neoantigen end (at BP 13)
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:25	SVAYLAANY	0.9935	0.8857	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:02	SVAYLAANY	0.9877	0.9036	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:01	SVAYLAANY	0.9867	0.8427	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B39:06	TQSVAYLAA	0.8191	0.7922	5	14
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:21	SVAYLAANY	0.9875	0.8409	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:05	SVAYLAANY	0.9771	0.7167	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:31	SVAYLAANY	0.9547	0.7295	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:07	SVAYLAANY	0.8923	0.5678	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:39	SVAYLAANY	0.9925	0.7775	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:34	SVAYLAANY	0.9867	0.8427	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:125	SVAYLAANY	0.9867	0.8427	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:33	SVAYLAANY	0.9867	0.8427	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:27	SVAYLAANY	0.9867	0.8409	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:50	SVAYLAANY	0.9855	0.8694	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:135	SVAYLAANY	0.9848	0.8482	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:11	SVAYLAANY	0.9807	0.8048	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:20	SVAYLAANY	0.9789	0.8084	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:08	SVAYLAANY	0.9748	0.786	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:12	SVAYLAANY	0.9659	0.8205	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-A25:01	SVAYLAANY	0.9628	0.6899	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B35:20	SVAYLAANY	0.9503	0.8344	7	16
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	HLA-B15:35	SVAYLAANY	0.9192	0.8164	7	16

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Potential FusionNeoAntigen Information of NF1-ABCB5 in HLA II

NF1-ABCB5_29676269_20671682.msa

Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).

Fusion gene	Hchr	Hbp	Tgene	Tchr	Tbp	HLA II	FusionNeoAntigen peptide	Neoantigen start (at BP 13)	Neoantigen end (at BP 13)
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	DRB1-1002	VNTQSVAYLAANYQN	3	18
NF1-ABCB5	chr17	29676269	chr7	20671682	7641	DRB1-1002	TQSVAYLAANYQNCT	5	20

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Fusion breakpoint peptide structures of NF1-ABCB5

3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.

File name	BPseq	Hgene	Tgene	Hchr	Hbp	Tchr	Tbp	AAlen
7590	QSVAYLAANYQNCT	NF1	ABCB5	chr17	29676269	chr7	20671682	7641

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of NF1-ABCB5

Virtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.

HLA allele	PDB ID	File name	BPseq	Docking score	Glide score
HLA-B14:02	3BVN	7590	QSVAYLAANYQNCT	-7.9962	-8.1096
HLA-B14:02	3BVN	7590	QSVAYLAANYQNCT	-5.70842	-6.74372
HLA-B52:01	3W39	7590	QSVAYLAANYQNCT	-6.83737	-6.95077
HLA-B52:01	3W39	7590	QSVAYLAANYQNCT	-4.4836	-5.5189
HLA-A11:01	4UQ2	7590	QSVAYLAANYQNCT	-10.0067	-10.1201
HLA-A11:01	4UQ2	7590	QSVAYLAANYQNCT	-9.03915	-10.0745
HLA-A24:02	5HGA	7590	QSVAYLAANYQNCT	-6.56204	-6.67544
HLA-A24:02	5HGA	7590	QSVAYLAANYQNCT	-5.42271	-6.45801
HLA-B44:05	3DX8	7590	QSVAYLAANYQNCT	-7.85648	-8.89178
HLA-B44:05	3DX8	7590	QSVAYLAANYQNCT	-5.3978	-5.5112
HLA-A02:01	6TDR	7590	QSVAYLAANYQNCT	-3.37154	-4.40684

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Vaccine Design for the FusionNeoAntigens of NF1-ABCB5

mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.

Fusion gene	Hchr	Hbp	Tchr	Tbp	Start in +/-13AA	End in +/-13AA	FusionNeoAntigen peptide sequence	FusionNeoAntigen RNA sequence
NF1-ABCB5	chr17	29676269	chr7	20671682	5	14	TQSVAYLAA	CACAGAGCGTGGCCTACTTAGCAGCAA
NF1-ABCB5	chr17	29676269	chr7	20671682	7	16	SVAYLAANY	GCGTGGCCTACTTAGCAGCAAATTATC

mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.

Fusion gene	Hchr	Hbp	Tchr	Tbp	Start in +/-13AA	End in +/-13AA	FusionNeoAntigen peptide	FusionNEoAntigen RNA sequence
NF1-ABCB5	chr17	29676269	chr7	20671682	3	18	VNTQSVAYLAANYQN	TGAATACACAGAGCGTGGCCTACTTAGCAGCAAATTATCAGAACT
NF1-ABCB5	chr17	29676269	chr7	20671682	5	20	TQSVAYLAANYQNCT	CACAGAGCGTGGCCTACTTAGCAGCAAATTATCAGAACTGTACTC

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Information of the samples that have these potential fusion neoantigens of NF1-ABCB5

These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.

Cancer type	Fusion gene	Hchr	Hbp	Henst	Tchr	Tbp	Tenst	Sample
BRCA	NF1-ABCB5	chr17	29676269	ENST00000356175	chr7	20671682	ENST00000404938	TCGA-B6-A0I9-01A

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Potential target of CAR-T therapy development for NF1-ABCB5

Predicted 3D structure. We used RoseTTAFold.

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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features

* Minus value of BPloci means that the break point is located before the CDS.

- In-frame and retained 'Transmembrane'.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000258738

110_130

813.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000258738

181_201

813.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000258738

203_223

813.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000258738

294_314

813.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000258738

322_342

813.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000258738

49_69

813.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000258738

693_713

813.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000258738

737_757

813.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000258738

827_847

813.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000258738

917_937

813.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000258738

954_974

813.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000404938

110_130

1258.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000404938

181_201

1258.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000404938

203_223

1258.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000404938

294_314

1258.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000404938

322_342

1258.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000404938

693_713

1258.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000404938

737_757

1258.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000404938

827_847

1258.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000404938

917_937

1258.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000404938

954_974

1258.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000406935

110_130

127.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000406935

181_201

127.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000406935

203_223

127.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000406935

294_314

127.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000406935

322_342

127.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000406935

49_69

127.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000406935

693_713

127.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000406935

737_757

127.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000406935

827_847

127.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000406935

917_937

127.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000406935

954_974

127.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000443026

110_130

132.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000443026

181_201

132.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000443026

203_223

132.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000443026

294_314

132.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000443026

322_342

132.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000443026

49_69

132.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000443026

693_713

132.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000443026

737_757

132.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000443026

827_847

132.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000443026

917_937

132.0

Transmembrane

Helical

Tgene

ABCB5

chr17:29676269

chr7:20671682

ENST00000443026

954_974

132.0

Transmembrane

Helical

Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.

Hgene	Hchr	Hbp	Henst	Tgene	Tchr	Tbp	Tenst	DeepLoc result
NF1	chr17	29676269	ENST00000356175	ABCB5	chr7	20671682	ENST00000404938
NF1	chr17	29676269	ENST00000358273	ABCB5	chr7	20671682	ENST00000404938
NF1	chr17	29676269	ENST00000417592	ABCB5	chr7	20671682	ENST00000404938
NF1	chr17	29676269	ENST00000444181	ABCB5	chr7	20671682	ENST00000404938

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Related Drugs to NF1-ABCB5

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 NF1-ABCB5

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
Hgene	NF1	C0027831	Neurofibromatosis 1	44	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	NF1	C1708353	Hereditary Paraganglioma-Pheochromocytoma Syndrome	10	CLINGEN
Hgene	NF1	C0349639	Juvenile Myelomonocytic Leukemia	7	CTD_human;GENOMICS_ENGLAND;ORPHANET
Hgene	NF1	C2931482	Neurofibromatosis-Noonan syndrome	6	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Hgene	NF1	C0553586	Cafe-au-lait macules with pulmonary stenosis	5	CTD_human;GENOMICS_ENGLAND;ORPHANET
Hgene	NF1	C0162678	Neurofibromatoses	3	CGI;CTD_human;GENOMICS_ENGLAND
Hgene	NF1	C0004114	Astrocytoma	2	CTD_human
Hgene	NF1	C0023467	Leukemia, Myelocytic, Acute	2	CTD_human
Hgene	NF1	C0025202	melanoma	2	CGI;CTD_human
Hgene	NF1	C0026998	Acute Myeloid Leukemia, M1	2	CTD_human
Hgene	NF1	C0205768	Subependymal Giant Cell Astrocytoma	2	CTD_human
Hgene	NF1	C0206727	Nerve Sheath Tumors	2	CTD_human
Hgene	NF1	C0280783	Juvenile Pilocytic Astrocytoma	2	CTD_human
Hgene	NF1	C0280785	Diffuse Astrocytoma	2	CTD_human
Hgene	NF1	C0334579	Anaplastic astrocytoma	2	CTD_human
Hgene	NF1	C0334580	Protoplasmic astrocytoma	2	CTD_human
Hgene	NF1	C0334581	Gemistocytic astrocytoma	2	CTD_human
Hgene	NF1	C0334582	Fibrillary Astrocytoma	2	CTD_human
Hgene	NF1	C0334583	Pilocytic Astrocytoma	2	CTD_human
Hgene	NF1	C0338070	Childhood Cerebral Astrocytoma	2	CTD_human
Hgene	NF1	C0547065	Mixed oligoastrocytoma	2	CTD_human
Hgene	NF1	C0750935	Cerebral Astrocytoma	2	CTD_human
Hgene	NF1	C0750936	Intracranial Astrocytoma	2	CTD_human
Hgene	NF1	C0751689	Peripheral Nerve Sheath Neoplasm	2	CTD_human
Hgene	NF1	C0751691	Perineurioma	2	CTD_human
Hgene	NF1	C1704230	Grade I Astrocytoma	2	CTD_human
Hgene	NF1	C1834235	NEUROFIBROMATOSIS, FAMILIAL SPINAL	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	NF1	C1879321	Acute Myeloid Leukemia (AML-M2)	2	CTD_human
Hgene	NF1	C0001430	Adenoma	1	CTD_human
Hgene	NF1	C0004352	Autistic Disorder	1	CTD_human
Hgene	NF1	C0016057	Fibrosarcoma	1	CTD_human
Hgene	NF1	C0017636	Glioblastoma	1	CTD_human
Hgene	NF1	C0017638	Glioma	1	CGI;CTD_human
Hgene	NF1	C0020796	Profound Mental Retardation	1	CTD_human
Hgene	NF1	C0023186	Learning Disorders	1	CTD_human
Hgene	NF1	C0023827	liposarcoma	1	CTD_human
Hgene	NF1	C0025363	Mental Retardation, Psychosocial	1	CTD_human
Hgene	NF1	C0026654	Moyamoya Disease	1	GENOMICS_ENGLAND
Hgene	NF1	C0027809	Neurilemmoma	1	CTD_human
Hgene	NF1	C0027830	neurofibroma	1	CTD_human
Hgene	NF1	C0027962	Melanocytic nevus	1	CTD_human
Hgene	NF1	C0028326	Noonan Syndrome	1	GENOMICS_ENGLAND
Hgene	NF1	C0031511	Pheochromocytoma	1	CTD_human
Hgene	NF1	C0035320	Retinal Neovascularization	1	CTD_human
Hgene	NF1	C0205646	Adenoma, Basal Cell	1	CTD_human
Hgene	NF1	C0205647	Follicular adenoma	1	CTD_human
Hgene	NF1	C0205648	Adenoma, Microcystic	1	CTD_human
Hgene	NF1	C0205649	Adenoma, Monomorphic	1	CTD_human
Hgene	NF1	C0205650	Papillary adenoma	1	CTD_human
Hgene	NF1	C0205651	Adenoma, Trabecular	1	CTD_human
Hgene	NF1	C0205824	Liposarcoma, Dedifferentiated	1	CTD_human
Hgene	NF1	C0205825	Liposarcoma, Pleomorphic	1	CTD_human
Hgene	NF1	C0205944	Sarcoma, Epithelioid	1	CTD_human
Hgene	NF1	C0205945	Sarcoma, Spindle Cell	1	CTD_human
Hgene	NF1	C0259783	mixed gliomas	1	CTD_human
Hgene	NF1	C0334588	Giant Cell Glioblastoma	1	CTD_human
Hgene	NF1	C0555198	Malignant Glioma	1	CTD_human
Hgene	NF1	C0751262	Adult Learning Disorders	1	CTD_human
Hgene	NF1	C0751263	Learning Disturbance	1	CTD_human
Hgene	NF1	C0751265	Learning Disabilities	1	CTD_human
Hgene	NF1	C0751374	Schwannomatosis, Plexiform	1	CTD_human
Hgene	NF1	C0917816	Mental deficiency	1	CTD_human
Hgene	NF1	C0917817	Neurofibromatosis 3	1	CTD_human
Hgene	NF1	C1257877	Pheochromocytoma, Extra-Adrenal	1	CTD_human
Hgene	NF1	C1261473	Sarcoma	1	CTD_human
Hgene	NF1	C1330966	Developmental Academic Disorder	1	CTD_human
Hgene	NF1	C1370889	Liposarcoma, well differentiated	1	CTD_human
Hgene	NF1	C1621958	Glioblastoma Multiforme	1	CTD_human
Hgene	NF1	C3150928	NF1 Microdeletion Syndrome	1	ORPHANET
Hgene	NF1	C3714756	Intellectual Disability	1	CTD_human

	Fusion Gene and Fusion Protein Summary
	Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)
	Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)
	Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)
	Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)
	Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)
	Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)
	Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)
	Potential target of CAR-T therapy development
	Information on the samples that have these potential fusion neoantigens
	Fusion Protein Targeting Drugs - (Manual Curation)
	Fusion Protein Related diseases - (Manual Curation)