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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:KDM5C-HSD17B10

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: KDM5C-HSD17B10
	FusionPDB ID: 41879
	FusionGDB2.0 ID: 41879
		Hgene	Tgene
	Gene symbol	KDM5C	HSD17B10
	Gene ID	8242	3028
	Gene name	lysine demethylase 5C	hydroxysteroid 17-beta dehydrogenase 10
	Synonyms	DXS1272E\|JARID1C\|MRX13\|MRXJ\|MRXSCJ\|MRXSJ\|SMCX\|XE169	17b-HSD10\|ABAD\|CAMR\|DUPXp11.22\|ERAB\|HADH2\|HCD2\|HSD10MD\|MHBD\|MRPP2\|MRX17\|MRX31\|MRXS10\|SCHAD\|SDR5C1
	Cytomap	Xp11.22	Xp11.22
	Type of gene	protein-coding	protein-coding
	Description	lysine-specific demethylase 5CJmjC domain-containing protein SMCXJumonji, AT rich interactive domain 1C (RBP2-like)Jumonji/ARID domain-containing protein 1CSmcx homolog, X chromosomeSmcy homolog, X-linkedhistone demethylase JARID1Clysine (K)-specif	3-hydroxyacyl-CoA dehydrogenase type-23-hydroxy-2-methylbutyryl-CoA dehydrogenaseAB-binding alcohol dehydrogenaseamyloid-beta peptide binding alcohol dehydrogenaseendoplasmic reticulum-associated amyloid beta-peptide-binding proteinmitochondrial RNas
	Modification date	20200313	20200313
	UniProtAcc	P41229	Q99714
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000375379, ENST00000375383, ENST00000375401, ENST00000404049, ENST00000452825, ENST00000465402,	ENST00000495986, ENST00000168216, ENST00000375298, ENST00000375304,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	17 X 19 X 7=2261	2 X 2 X 2=8
	# samples	18	3
	** MAII score	log2(18/2261*10)=-3.65089218042185 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/8*10)=1.90689059560852
Context (manual curation of fusion genes in FusionPDB)	PubMed: KDM5C [Title/Abstract] AND HSD17B10 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	KDM5C(53246325)-HSD17B10(53459359), # samples:2
Anticipated loss of major functional domain due to fusion event.	KDM5C-HSD17B10 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. KDM5C-HSD17B10 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. KDM5C-HSD17B10 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. KDM5C-HSD17B10 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	KDM5C	GO:0034720	histone H3-K4 demethylation	17320160
Tgene	HSD17B10	GO:0051289	protein homotetramerization	25925575
Tgene	HSD17B10	GO:0070901	mitochondrial tRNA methylation	25925575\|28888424
Tgene	HSD17B10	GO:0097745	mitochondrial tRNA 5'-end processing	24549042\|25925575\|28888424\|29040705
Tgene	HSD17B10	GO:1990180	mitochondrial tRNA 3'-end processing	29040705

Fusion gene breakpoints across KDM5C (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 HSD17B10 (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	BRCA	TCGA-GM-A2DF-01A	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-

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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)
ENST00000452825	KDM5C	chrX	53246325	-	ENST00000375304	HSD17B10	chrX	53459359	-	1702	989	533	1555	340
ENST00000452825	KDM5C	chrX	53246325	-	ENST00000168216	HSD17B10	chrX	53459359	-	1729	989	533	1582	349
ENST00000452825	KDM5C	chrX	53246325	-	ENST00000375298	HSD17B10	chrX	53459359	-	1615	989	533	1306	257
ENST00000375401	KDM5C	chrX	53246325	-	ENST00000375304	HSD17B10	chrX	53459359	-	1903	1190	533	1756	407
ENST00000375401	KDM5C	chrX	53246325	-	ENST00000168216	HSD17B10	chrX	53459359	-	1930	1190	533	1783	416
ENST00000375401	KDM5C	chrX	53246325	-	ENST00000375298	HSD17B10	chrX	53459359	-	1816	1190	533	1507	324
ENST00000404049	KDM5C	chrX	53246325	-	ENST00000375304	HSD17B10	chrX	53459359	-	1654	941	287	1507	406
ENST00000404049	KDM5C	chrX	53246325	-	ENST00000168216	HSD17B10	chrX	53459359	-	1681	941	287	1534	415
ENST00000404049	KDM5C	chrX	53246325	-	ENST00000375298	HSD17B10	chrX	53459359	-	1567	941	287	1258	323
ENST00000375379	KDM5C	chrX	53246325	-	ENST00000375304	HSD17B10	chrX	53459359	-	1903	1190	533	1756	407
ENST00000375379	KDM5C	chrX	53246325	-	ENST00000168216	HSD17B10	chrX	53459359	-	1930	1190	533	1783	416
ENST00000375379	KDM5C	chrX	53246325	-	ENST00000375298	HSD17B10	chrX	53459359	-	1816	1190	533	1507	324
ENST00000375383	KDM5C	chrX	53246325	-	ENST00000375304	HSD17B10	chrX	53459359	-	1780	1067	533	1633	366
ENST00000375383	KDM5C	chrX	53246325	-	ENST00000168216	HSD17B10	chrX	53459359	-	1807	1067	533	1660	375
ENST00000375383	KDM5C	chrX	53246325	-	ENST00000375298	HSD17B10	chrX	53459359	-	1693	1067	533	1384	283

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
ENST00000452825	ENST00000375304	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.001787673	0.99821234
ENST00000452825	ENST00000168216	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.001733699	0.9982663
ENST00000452825	ENST00000375298	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.004043282	0.9959567
ENST00000375401	ENST00000375304	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.001388821	0.9986112
ENST00000375401	ENST00000168216	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.001293836	0.9987061
ENST00000375401	ENST00000375298	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.001138964	0.9988611
ENST00000404049	ENST00000375304	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.001670828	0.9983292
ENST00000404049	ENST00000168216	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.001746583	0.9982534
ENST00000404049	ENST00000375298	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.001287264	0.9987128
ENST00000375379	ENST00000375304	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.001388821	0.9986112
ENST00000375379	ENST00000168216	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.001293836	0.9987061
ENST00000375379	ENST00000375298	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.001138964	0.9988611
ENST00000375383	ENST00000375304	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.002213219	0.99778676
ENST00000375383	ENST00000168216	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.002785083	0.9972149
ENST00000375383	ENST00000375298	KDM5C	chrX	53246325	-	HSD17B10	chrX	53459359	-	0.003261814	0.99673814

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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

>41879_41879_1_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000375379_HSD17B10_chrX_53459359_ENST00000168216_length(amino acids)=416AA_BP=219
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEAQTRVKLNYLDQIA
KFWEIQGSSLKIPNVERRILDLYSLSKIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVQCNTRP
FDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQ
RVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGIRVMTIAPGLFGTPL

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

>41879_41879_2_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000375379_HSD17B10_chrX_53459359_ENST00000375298_length(amino acids)=324AA_BP=219
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEAQTRVKLNYLDQIA
KFWEIQGSSLKIPNVERRILDLYSLSKIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVQCNTRP
FDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQ

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

>41879_41879_3_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000375379_HSD17B10_chrX_53459359_ENST00000375304_length(amino acids)=407AA_BP=219
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEAQTRVKLNYLDQIA
KFWEIQGSSLKIPNVERRILDLYSLSKIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVQCNTRP
FDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQ
RVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGLFGTPLLTSLPEKVC

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

>41879_41879_4_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000375383_HSD17B10_chrX_53459359_ENST00000168216_length(amino acids)=375AA_BP=178
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEIVVEEGGYEAICKD
RRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVQCNTRPFDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVT
SEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASV
AAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGIRVMTIAPGLFGTPLLTSLPEKVCNFLASQVPFPSRLGDPAEYAHLVQAIIENPFL

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

>41879_41879_5_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000375383_HSD17B10_chrX_53459359_ENST00000375298_length(amino acids)=283AA_BP=178
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEIVVEEGGYEAICKD
RRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVQCNTRPFDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVT
SEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASV

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

>41879_41879_6_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000375383_HSD17B10_chrX_53459359_ENST00000375304_length(amino acids)=366AA_BP=178
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEIVVEEGGYEAICKD
RRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVQCNTRPFDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVT
SEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASV
AAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGLFGTPLLTSLPEKVCNFLASQVPFPSRLGDPAEYAHLVQAIIENPFLNGEVIRLDG

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

>41879_41879_7_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000375401_HSD17B10_chrX_53459359_ENST00000168216_length(amino acids)=416AA_BP=219
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEAQTRVKLNYLDQIA
KFWEIQGSSLKIPNVERRILDLYSLSKIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVQCNTRP
FDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQ
RVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGIRVMTIAPGLFGTPL

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

>41879_41879_8_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000375401_HSD17B10_chrX_53459359_ENST00000375298_length(amino acids)=324AA_BP=219
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEAQTRVKLNYLDQIA
KFWEIQGSSLKIPNVERRILDLYSLSKIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVQCNTRP
FDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQ

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

>41879_41879_9_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000375401_HSD17B10_chrX_53459359_ENST00000375304_length(amino acids)=407AA_BP=219
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEAQTRVKLNYLDQIA
KFWEIQGSSLKIPNVERRILDLYSLSKIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVQCNTRP
FDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQ
RVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGLFGTPLLTSLPEKVC

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

>41879_41879_10_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000404049_HSD17B10_chrX_53459359_ENST00000168216_length(amino acids)=415AA_BP=218
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEAQTRVKLNYLDQIA
KFWEIQGSSLKIPNVERRILDLYSLSKIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVCNTRPF
DNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQR
VLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGIRVMTIAPGLFGTPLL

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

>41879_41879_11_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000404049_HSD17B10_chrX_53459359_ENST00000375298_length(amino acids)=323AA_BP=218
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEAQTRVKLNYLDQIA
KFWEIQGSSLKIPNVERRILDLYSLSKIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVCNTRPF
DNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQR

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

>41879_41879_12_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000404049_HSD17B10_chrX_53459359_ENST00000375304_length(amino acids)=406AA_BP=218
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQRLNELEAQTRVKLNYLDQIA
KFWEIQGSSLKIPNVERRILDLYSLSKIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVCNTRPF
DNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQR
VLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGLFGTPLLTSLPEKVCN

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

>41879_41879_13_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000452825_HSD17B10_chrX_53459359_ENST00000168216_length(amino acids)=349AA_BP=152
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPAIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHY
ERIVYPYEMYQSGANLVQCNTRPFDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVTSEKDVQTALALAKGKFGRVDVAVNCA
GIAVASKTYNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTLPI

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

>41879_41879_14_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000452825_HSD17B10_chrX_53459359_ENST00000375298_length(amino acids)=257AA_BP=152
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPAIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHY
ERIVYPYEMYQSGANLVQCNTRPFDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVTSEKDVQTALALAKGKFGRVDVAVNCA

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

>41879_41879_15_KDM5C-HSD17B10_KDM5C_chrX_53246325_ENST00000452825_HSD17B10_chrX_53459359_ENST00000375304_length(amino acids)=340AA_BP=152
MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPAIVVEEGGYEAICKDRRWARVAQRLNYPPGKNIGSLLRSHY
ERIVYPYEMYQSGANLVQCNTRPFDNEEKDKEYKPHSIPLRQSVQPSKFNSYGRRAKRLQPDVTSEKDVQTALALAKGKFGRVDVAVNCA
GIAVASKTYNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTLPI

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

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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/chrX:53246325/chrX:53459359)
- 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
KDM5C P41229	HSD17B10 Q99714
FUNCTION: Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:28262558). Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity). {ECO:0000250\|UniProtKB:P41230, ECO:0000269\|PubMed:17320160, ECO:0000269\|PubMed:17320161, ECO:0000269\|PubMed:17468742, ECO:0000269\|PubMed:26645689, ECO:0000269\|PubMed:28262558}.	FUNCTION: Mitochondrial dehydrogenase involved in pathways of fatty acid, branched-chain amino acid and steroid metabolism (PubMed:9553139, PubMed:10600649, PubMed:12917011, PubMed:20077426, PubMed:18996107, PubMed:19706438, PubMed:25925575, PubMed:26950678, PubMed:28888424). Acts as (S)-3-hydroxyacyl-CoA dehydrogenase in mitochondrial fatty acid beta-oxidation, a major degradation pathway of fatty acids. Catalyzes the third step in the beta-oxidation cycle, namely the reversible conversion of (S)-3-hydroxyacyl-CoA to 3-ketoacyl-CoA. Preferentially accepts straight medium- and short-chain acyl-CoA substrates with highest efficiency for (3S)-hydroxybutanoyl-CoA (PubMed:9553139, PubMed:10600649, PubMed:12917011, PubMed:25925575, PubMed:26950678). Acts as 3-hydroxy-2-methylbutyryl-CoA dehydrogenase in branched-chain amino acid catabolic pathway. Catalyzes the oxidation of 3-hydroxy-2-methylbutanoyl-CoA into 2-methyl-3-oxobutanoyl-CoA, a step in isoleucine degradation pathway (PubMed:20077426, PubMed:18996107, PubMed:19706438). Has hydroxysteroid dehydrogenase activity toward steroid hormones and bile acids. Catalyzes the oxidation of 3alpha-, 17beta-, 20beta- and 21-hydroxysteroids and 7alpha- and 7beta-hydroxy bile acids (PubMed:10600649, PubMed:12917011). Oxidizes allopregnanolone/brexanolone at the 3alpha-hydroxyl group, which is known to be critical for the activation of gamma-aminobutyric acid receptors (GABAARs) chloride channel (PubMed:19706438, PubMed:28888424). Has phospholipase C-like activity toward cardiolipin and its oxidized species. Likely oxidizes the 2'-hydroxyl in the head group of cardiolipin to form a ketone intermediate that undergoes nucleophilic attack by water and fragments into diacylglycerol, dihydroxyacetone and orthophosphate. Has higher affinity for cardiolipin with oxidized fatty acids and may degrade these species during the oxidative stress response to protect cells from apoptosis (PubMed:26338420). By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD) (PubMed:9338779). Essential for structural and functional integrity of mitochondria (PubMed:20077426). {ECO:0000269\|PubMed:10600649, ECO:0000269\|PubMed:12917011, ECO:0000269\|PubMed:18996107, ECO:0000269\|PubMed:19706438, ECO:0000269\|PubMed:20077426, ECO:0000269\|PubMed:25925575, ECO:0000269\|PubMed:26338420, ECO:0000269\|PubMed:26950678, ECO:0000269\|PubMed:28888424, ECO:0000269\|PubMed:9553139}.; FUNCTION: In addition to mitochondrial dehydrogenase activity, moonlights as a component of mitochondrial ribonuclease P, a complex that cleaves tRNA molecules in their 5'-ends (PubMed:18984158, PubMed:24549042, PubMed:25925575, PubMed:26950678, PubMed:28888424). Together with TRMT10C/MRPP1, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; HSD17B10/MRPP2 acting as a non-catalytic subunit (PubMed:23042678, PubMed:25925575, PubMed:28888424). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly. {ECO:0000269\|PubMed:18984158, ECO:0000269\|PubMed:23042678, ECO:0000269\|PubMed:24549042, ECO:0000269\|PubMed:24703694, ECO:0000269\|PubMed:25925575, ECO:0000269\|PubMed:26950678, ECO:0000269\|PubMed:28888424, ECO:0000269\|PubMed:29040705}.

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

KDM5C

chrX:53246325

chrX:53459359

ENST00000375379

14_55

219.0

1558.0

Domain

JmjN

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375379

79_169

219.0

1558.0

Domain

ARID

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375383

14_55

178.0

1517.0

Domain

JmjN

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375383

79_169

178.0

1517.0

Domain

ARID

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375401

14_55

219.0

1561.0

Domain

JmjN

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375401

79_169

219.0

1561.0

Domain

ARID

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000404049

14_55

218.0

1560.0

Domain

JmjN

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000404049

79_169

218.0

1560.0

Domain

ARID

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000452825

14_55

152.0

1380.0

Domain

JmjN

- 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

KDM5C

chrX:53246325

chrX:53459359

ENST00000375379

468_634

219.0

1558.0

Domain

JmjC

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375383

468_634

178.0

1517.0

Domain

JmjC

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375401

468_634

219.0

1561.0

Domain

JmjC

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000404049

468_634

218.0

1560.0

Domain

JmjC

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000452825

468_634

152.0

1380.0

Domain

JmjC

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000452825

79_169

152.0

1380.0

Domain

ARID

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375379

1187_1248

219.0

1558.0

Zinc finger

PHD-type 2

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375379

326_372

219.0

1558.0

Zinc finger

PHD-type 1

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375379

707_759

219.0

1558.0

Zinc finger

C5HC2

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375383

1187_1248

178.0

1517.0

Zinc finger

PHD-type 2

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375383

326_372

178.0

1517.0

Zinc finger

PHD-type 1

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375383

707_759

178.0

1517.0

Zinc finger

C5HC2

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375401

1187_1248

219.0

1561.0

Zinc finger

PHD-type 2

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375401

326_372

219.0

1561.0

Zinc finger

PHD-type 1

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000375401

707_759

219.0

1561.0

Zinc finger

C5HC2

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000404049

1187_1248

218.0

1560.0

Zinc finger

PHD-type 2

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000404049

326_372

218.0

1560.0

Zinc finger

PHD-type 1

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000404049

707_759

218.0

1560.0

Zinc finger

C5HC2

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000452825

1187_1248

152.0

1380.0

Zinc finger

PHD-type 2

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000452825

326_372

152.0

1380.0

Zinc finger

PHD-type 1

Hgene

KDM5C

chrX:53246325

chrX:53459359

ENST00000452825

707_759

152.0

1380.0

Zinc finger

C5HC2

Tgene

HSD17B10

chrX:53246325

chrX:53459359

ENST00000168216

12_41

64.0

262.0

Nucleotide binding

NAD

Tgene

HSD17B10

chrX:53246325

chrX:53459359

ENST00000375304

12_41

64.0

253.0

Nucleotide binding

NAD

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
KDM5C
HSD17B10

- 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 KDM5C-HSD17B10

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to KDM5C-HSD17B10

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