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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:MXI1-HIF1A

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: MXI1-HIF1A
	FusionPDB ID: 56137
	FusionGDB2.0 ID: 56137
		Hgene	Tgene
	Gene symbol	MXI1	HIF1A
	Gene ID	4601	3091
	Gene name	MAX interactor 1, dimerization protein	hypoxia inducible factor 1 subunit alpha
	Synonyms	MAD2\|MXD2\|MXI\|bHLHc11	HIF-1-alpha\|HIF-1A\|HIF-1alpha\|HIF1\|HIF1-ALPHA\|MOP1\|PASD8\|bHLHe78
	Cytomap	10q25.2	14q23.2
	Type of gene	protein-coding	protein-coding
	Description	max-interacting protein 1MAX dimerization protein 2Max-related transcription factorclass C basic helix-loop-helix protein 11	hypoxia-inducible factor 1-alphaARNT interacting proteinPAS domain-containing protein 8basic-helix-loop-helix-PAS protein MOP1class E basic helix-loop-helix protein 78hypoxia inducible factor 1 alpha subunithypoxia inducible factor 1, alpha subunit
	Modification date	20200313	20200329
	UniProtAcc	P50539	Q9NWT6
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000485566, ENST00000239007, ENST00000332674, ENST00000361248, ENST00000369612, ENST00000393134,	ENST00000323441, ENST00000337138, ENST00000394997, ENST00000539097, ENST00000557538, ENST00000557206,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	8 X 8 X 4=256	7 X 7 X 3=147
	# samples	8	7
	** MAII score	log2(8/256*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(7/147*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: MXI1 [Title/Abstract] AND HIF1A [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	MXI1(112039052)-HIF1A(62207754), # samples:1
Anticipated loss of major functional domain due to fusion event.	MXI1-HIF1A 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. MXI1-HIF1A 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. MXI1-HIF1A 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. MXI1-HIF1A 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	MXI1	GO:0000122	negative regulation of transcription by RNA polymerase II	11875718
Tgene	HIF1A	GO:0001666	response to hypoxia	8756616\|9887100\|11782478\|15261140\|18419598
Tgene	HIF1A	GO:0006355	regulation of transcription, DNA-templated	11782478\|15261140
Tgene	HIF1A	GO:0010468	regulation of gene expression	18419598
Tgene	HIF1A	GO:0010573	vascular endothelial growth factor production	12958148
Tgene	HIF1A	GO:0010575	positive regulation of vascular endothelial growth factor production	8756616
Tgene	HIF1A	GO:0010628	positive regulation of gene expression	15459207\|24244340
Tgene	HIF1A	GO:0032364	oxygen homeostasis	16956324
Tgene	HIF1A	GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress	8089148\|8387214
Tgene	HIF1A	GO:0045893	positive regulation of transcription, DNA-templated	8089148\|9887100\|25043030
Tgene	HIF1A	GO:0045944	positive regulation of transcription by RNA polymerase II	11573933
Tgene	HIF1A	GO:0046886	positive regulation of hormone biosynthetic process	1448077
Tgene	HIF1A	GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	22735262
Tgene	HIF1A	GO:0071456	cellular response to hypoxia	11573933\|19528298\|20889502
Tgene	HIF1A	GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	19782034
Tgene	HIF1A	GO:1903377	negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	24899725

Fusion gene breakpoints across MXI1 (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 HIF1A (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
ChiTaRS5.0	N/A	BE767238	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+

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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)
ENST00000332674	MXI1	chr10	112039052	+	ENST00000394997	HIF1A	chr14	62207754	+	2469	756	204	1295	363
ENST00000332674	MXI1	chr10	112039052	+	ENST00000337138	HIF1A	chr14	62207754	+	2469	756	204	1295	363
ENST00000332674	MXI1	chr10	112039052	+	ENST00000323441	HIF1A	chr14	62207754	+	2342	756	204	1022	272
ENST00000332674	MXI1	chr10	112039052	+	ENST00000557538	HIF1A	chr14	62207754	+	1982	756	204	1295	363
ENST00000332674	MXI1	chr10	112039052	+	ENST00000539097	HIF1A	chr14	62207754	+	1982	756	204	1295	363
ENST00000361248	MXI1	chr10	112039052	+	ENST00000394997	HIF1A	chr14	62207754	+	2046	333	120	872	250
ENST00000361248	MXI1	chr10	112039052	+	ENST00000337138	HIF1A	chr14	62207754	+	2046	333	120	872	250
ENST00000361248	MXI1	chr10	112039052	+	ENST00000323441	HIF1A	chr14	62207754	+	1919	333	120	599	159
ENST00000361248	MXI1	chr10	112039052	+	ENST00000557538	HIF1A	chr14	62207754	+	1559	333	120	872	250
ENST00000361248	MXI1	chr10	112039052	+	ENST00000539097	HIF1A	chr14	62207754	+	1559	333	120	872	250
ENST00000239007	MXI1	chr10	112039052	+	ENST00000394997	HIF1A	chr14	62207754	+	2282	569	152	1108	318
ENST00000239007	MXI1	chr10	112039052	+	ENST00000337138	HIF1A	chr14	62207754	+	2282	569	152	1108	318
ENST00000239007	MXI1	chr10	112039052	+	ENST00000323441	HIF1A	chr14	62207754	+	2155	569	152	835	227
ENST00000239007	MXI1	chr10	112039052	+	ENST00000557538	HIF1A	chr14	62207754	+	1795	569	152	1108	318
ENST00000239007	MXI1	chr10	112039052	+	ENST00000539097	HIF1A	chr14	62207754	+	1795	569	152	1108	318
ENST00000393134	MXI1	chr10	112039052	+	ENST00000394997	HIF1A	chr14	62207754	+	2161	448	61	987	308
ENST00000393134	MXI1	chr10	112039052	+	ENST00000337138	HIF1A	chr14	62207754	+	2161	448	61	987	308
ENST00000393134	MXI1	chr10	112039052	+	ENST00000323441	HIF1A	chr14	62207754	+	2034	448	61	714	217
ENST00000393134	MXI1	chr10	112039052	+	ENST00000557538	HIF1A	chr14	62207754	+	1674	448	61	987	308
ENST00000393134	MXI1	chr10	112039052	+	ENST00000539097	HIF1A	chr14	62207754	+	1674	448	61	987	308
ENST00000369612	MXI1	chr10	112039052	+	ENST00000394997	HIF1A	chr14	62207754	+	2195	482	239	1021	260
ENST00000369612	MXI1	chr10	112039052	+	ENST00000337138	HIF1A	chr14	62207754	+	2195	482	239	1021	260
ENST00000369612	MXI1	chr10	112039052	+	ENST00000323441	HIF1A	chr14	62207754	+	2068	482	239	748	169
ENST00000369612	MXI1	chr10	112039052	+	ENST00000557538	HIF1A	chr14	62207754	+	1708	482	239	1021	260
ENST00000369612	MXI1	chr10	112039052	+	ENST00000539097	HIF1A	chr14	62207754	+	1708	482	239	1021	260

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
ENST00000332674	ENST00000394997	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.004500715	0.9954993
ENST00000332674	ENST00000337138	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.004500715	0.9954993
ENST00000332674	ENST00000323441	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.013772314	0.9862277
ENST00000332674	ENST00000557538	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.011934147	0.98806584
ENST00000332674	ENST00000539097	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.011934147	0.98806584
ENST00000361248	ENST00000394997	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.018387686	0.9816124
ENST00000361248	ENST00000337138	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.018387686	0.9816124
ENST00000361248	ENST00000323441	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.04410708	0.95589286
ENST00000361248	ENST00000557538	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.021670442	0.9783296
ENST00000361248	ENST00000539097	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.021670442	0.9783296
ENST00000239007	ENST00000394997	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.004882449	0.99511755
ENST00000239007	ENST00000337138	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.004882449	0.99511755
ENST00000239007	ENST00000323441	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.013480699	0.9865193
ENST00000239007	ENST00000557538	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.010019747	0.9899803
ENST00000239007	ENST00000539097	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.010019747	0.9899803
ENST00000393134	ENST00000394997	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.00359496	0.996405
ENST00000393134	ENST00000337138	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.00359496	0.996405
ENST00000393134	ENST00000323441	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.01808391	0.98191607
ENST00000393134	ENST00000557538	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.006665984	0.993334
ENST00000393134	ENST00000539097	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.006665984	0.993334
ENST00000369612	ENST00000394997	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.041917004	0.95808303
ENST00000369612	ENST00000337138	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.041917004	0.95808303
ENST00000369612	ENST00000323441	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.17148155	0.8285184
ENST00000369612	ENST00000557538	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.064264484	0.9357355
ENST00000369612	ENST00000539097	MXI1	chr10	112039052	+	HIF1A	chr14	62207754	+	0.064264484	0.9357355

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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

>56137_56137_1_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000239007_HIF1A_chr14_62207754_ENST00000323441_length(amino acids)=227AA_BP=139
MRRLLSAREGSAERRRSPPAVPMERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTAN
RSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSP

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

>56137_56137_2_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000239007_HIF1A_chr14_62207754_ENST00000337138_length(amino acids)=318AA_BP=139
MRRLLSAREGSAERRRSPPAVPMERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTAN
RSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSP
NVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDL

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

>56137_56137_3_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000239007_HIF1A_chr14_62207754_ENST00000394997_length(amino acids)=318AA_BP=139
MRRLLSAREGSAERRRSPPAVPMERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTAN
RSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSP
NVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDL

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

>56137_56137_4_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000239007_HIF1A_chr14_62207754_ENST00000539097_length(amino acids)=318AA_BP=139
MRRLLSAREGSAERRRSPPAVPMERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTAN
RSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSP
NVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDL

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

>56137_56137_5_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000239007_HIF1A_chr14_62207754_ENST00000557538_length(amino acids)=318AA_BP=139
MRRLLSAREGSAERRRSPPAVPMERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTAN
RSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSP
NVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDL

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

>56137_56137_6_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000332674_HIF1A_chr14_62207754_ENST00000323441_length(amino acids)=272AA_BP=184
MGKRGRPRKEARCEGAGLAPAAPPAVPPAVAAPQPPALPEDPAGAKPRCPFSDIFNTSENSMEKHINTFLQNVQILLEAASYLEQIEKEN
KKCEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAK
AHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVG

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

>56137_56137_7_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000332674_HIF1A_chr14_62207754_ENST00000337138_length(amino acids)=363AA_BP=184
MGKRGRPRKEARCEGAGLAPAAPPAVPPAVAAPQPPALPEDPAGAKPRCPFSDIFNTSENSMEKHINTFLQNVQILLEAASYLEQIEKEN
KKCEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAK
AHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVG
IGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDLACRLLGQSMDESGLPQLTSYDCEVNAPIQGSRNLLQGEELLRALD

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

>56137_56137_8_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000332674_HIF1A_chr14_62207754_ENST00000394997_length(amino acids)=363AA_BP=184
MGKRGRPRKEARCEGAGLAPAAPPAVPPAVAAPQPPALPEDPAGAKPRCPFSDIFNTSENSMEKHINTFLQNVQILLEAASYLEQIEKEN
KKCEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAK
AHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVG
IGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDLACRLLGQSMDESGLPQLTSYDCEVNAPIQGSRNLLQGEELLRALD

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

>56137_56137_9_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000332674_HIF1A_chr14_62207754_ENST00000539097_length(amino acids)=363AA_BP=184
MGKRGRPRKEARCEGAGLAPAAPPAVPPAVAAPQPPALPEDPAGAKPRCPFSDIFNTSENSMEKHINTFLQNVQILLEAASYLEQIEKEN
KKCEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAK
AHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVG
IGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDLACRLLGQSMDESGLPQLTSYDCEVNAPIQGSRNLLQGEELLRALD

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

>56137_56137_10_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000332674_HIF1A_chr14_62207754_ENST00000557538_length(amino acids)=363AA_BP=184
MGKRGRPRKEARCEGAGLAPAAPPAVPPAVAAPQPPALPEDPAGAKPRCPFSDIFNTSENSMEKHINTFLQNVQILLEAASYLEQIEKEN
KKCEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAK
AHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVG
IGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDLACRLLGQSMDESGLPQLTSYDCEVNAPIQGSRNLLQGEELLRALD

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

>56137_56137_11_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000361248_HIF1A_chr14_62207754_ENST00000323441_length(amino acids)=159AA_BP=71
MPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRT

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

>56137_56137_12_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000361248_HIF1A_chr14_62207754_ENST00000337138_length(amino acids)=250AA_BP=71
MPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRT
ASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVK

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

>56137_56137_13_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000361248_HIF1A_chr14_62207754_ENST00000394997_length(amino acids)=250AA_BP=71
MPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRT
ASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVK

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

>56137_56137_14_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000361248_HIF1A_chr14_62207754_ENST00000539097_length(amino acids)=250AA_BP=71
MPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRT
ASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVK

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

>56137_56137_15_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000361248_HIF1A_chr14_62207754_ENST00000557538_length(amino acids)=250AA_BP=71
MPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRT
ASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVK

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

>56137_56137_16_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000369612_HIF1A_chr14_62207754_ENST00000323441_length(amino acids)=169AA_BP=81
MPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATS

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

>56137_56137_17_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000369612_HIF1A_chr14_62207754_ENST00000337138_length(amino acids)=260AA_BP=81
MPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATS
SPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAA

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

>56137_56137_18_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000369612_HIF1A_chr14_62207754_ENST00000394997_length(amino acids)=260AA_BP=81
MPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATS
SPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAA

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

>56137_56137_19_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000369612_HIF1A_chr14_62207754_ENST00000539097_length(amino acids)=260AA_BP=81
MPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATS
SPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAA

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

>56137_56137_20_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000369612_HIF1A_chr14_62207754_ENST00000557538_length(amino acids)=260AA_BP=81
MPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATS
SPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAA

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

>56137_56137_21_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000393134_HIF1A_chr14_62207754_ENST00000323441_length(amino acids)=217AA_BP=129
MRRLLSAREGSAERRRSPPAVPMERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTAN
RRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQR

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

>56137_56137_22_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000393134_HIF1A_chr14_62207754_ENST00000337138_length(amino acids)=308AA_BP=129
MRRLLSAREGSAERRRSPPAVPMERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTAN
RRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQR
TTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDLACRLLGQSMD

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

>56137_56137_23_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000393134_HIF1A_chr14_62207754_ENST00000394997_length(amino acids)=308AA_BP=129
MRRLLSAREGSAERRRSPPAVPMERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTAN
RRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQR
TTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDLACRLLGQSMD

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

>56137_56137_24_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000393134_HIF1A_chr14_62207754_ENST00000539097_length(amino acids)=308AA_BP=129
MRRLLSAREGSAERRRSPPAVPMERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTAN
RRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQR
TTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDLACRLLGQSMD

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

>56137_56137_25_MXI1-HIF1A_MXI1_chr10_112039052_ENST00000393134_HIF1A_chr14_62207754_ENST00000557538_length(amino acids)=308AA_BP=129
MRRLLSAREGSAERRRSPPAVPMERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTAN
RRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKHKETTSATSSPYRDTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQR
TTVPEEELNPKILALQNAQRKRKMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDLACRLLGQSMD

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

Top

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/chr10:112039052/chr14:62207754)
- 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
MXI1 P50539	HIF1A Q9NWT6
FUNCTION: Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX.	FUNCTION: Hydroxylates HIF-1 alpha at 'Asn-803' in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting vascular differentiation. {ECO:0000269\|PubMed:12042299, ECO:0000269\|PubMed:12080085, ECO:0000269\|PubMed:17003112, ECO:0000269\|PubMed:17573339, ECO:0000269\|PubMed:18299578, ECO:0000269\|PubMed:19245366, ECO:0000269\|PubMed:21177872, ECO:0000269\|PubMed:21251231}.

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

MXI1

chr10:112039052

chr14:62207754

ENST00000239007

67_119

117.0

229.0

Domain

bHLH

Hgene

MXI1

chr10:112039052

chr14:62207754

ENST00000332674

67_119

184.0

296.0

Domain

bHLH

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

615_621

736.0

Compositional bias

Note=Poly-Thr

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

615_621

827.0

Compositional bias

Note=Poly-Thr

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

615_621

851.0

Compositional bias

Note=Poly-Thr

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

17_70

736.0

Domain

bHLH

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

228_298

736.0

Domain

PAS 2

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

302_345

736.0

Domain

Note=PAC

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

85_158

736.0

Domain

PAS 1

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

17_70

827.0

Domain

bHLH

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

228_298

827.0

Domain

PAS 2

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

302_345

827.0

Domain

Note=PAC

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

85_158

827.0

Domain

PAS 1

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

17_70

851.0

Domain

bHLH

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

228_298

851.0

Domain

PAS 2

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

302_345

851.0

Domain

Note=PAC

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

85_158

851.0

Domain

PAS 1

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

718_721

736.0

Motif

Nuclear localization signal

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

718_721

827.0

Motif

Nuclear localization signal

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

718_721

851.0

Motif

Nuclear localization signal

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

170_191

736.0

Region

Required for heterodimer formation with ARNT

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

21_30

736.0

Region

DNA-binding

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

380_417

736.0

Region

Note=N-terminal VHL recognition site

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

401_603

736.0

Region

Note=ODD

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

531_575

736.0

Region

Note=NTAD

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

556_572

736.0

Region

Note=C-terminal VHL recognition site

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

576_785

736.0

Region

Note=ID

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000323441

786_826

736.0

Region

Note=CTAD

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

170_191

827.0

Region

Required for heterodimer formation with ARNT

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

21_30

827.0

Region

DNA-binding

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

380_417

827.0

Region

Note=N-terminal VHL recognition site

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

401_603

827.0

Region

Note=ODD

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

531_575

827.0

Region

Note=NTAD

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

556_572

827.0

Region

Note=C-terminal VHL recognition site

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

576_785

827.0

Region

Note=ID

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000337138

786_826

827.0

Region

Note=CTAD

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

170_191

851.0

Region

Required for heterodimer formation with ARNT

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

21_30

851.0

Region

DNA-binding

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

380_417

851.0

Region

Note=N-terminal VHL recognition site

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

401_603

851.0

Region

Note=ODD

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

531_575

851.0

Region

Note=NTAD

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

556_572

851.0

Region

Note=C-terminal VHL recognition site

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

576_785

851.0

Region

Note=ID

Tgene

HIF1A

chr10:112039052

chr14:62207754

ENST00000539097

786_826

851.0

Region

Note=CTAD

- 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

MXI1

chr10:112039052

chr14:62207754

ENST00000361248

67_119

71.0

183.0

Domain

bHLH

Hgene

MXI1

chr10:112039052

chr14:62207754

ENST00000369612

67_119

81.0

193.0

Domain

bHLH

Top

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
MXI1
HIF1A

- 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

Top

Related Drugs to MXI1-HIF1A

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to MXI1-HIF1A

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