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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:HSD17B7-NPHP1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: HSD17B7-NPHP1
	FusionPDB ID: 37686
	FusionGDB2.0 ID: 37686
		Hgene	Tgene
	Gene symbol	HSD17B7	NPHP1
	Gene ID	51478	4867
	Gene name	hydroxysteroid 17-beta dehydrogenase 7	nephrocystin 1
	Synonyms	PRAP\|SDR37C1	JBTS4\|NPH1\|SLSN1
	Cytomap	1q23.3	2q13
	Type of gene	protein-coding	protein-coding
	Description	3-keto-steroid reductase17 beta-hydroxysteroid dehydrogenase type VII17-beta-HSD 717-beta-hydroxysteroid dehydrogenase 717beta hydroxysteroid dehydrogenaseestradiol 17-beta-dehydrogenase 7short chain dehydrogenase/reductase family 37C member 1	nephrocystin-1juvenile nephronophthisis 1 proteinnephronophthisis 1 (juvenile)
	Modification date	20200313	20200313
	UniProtAcc	P56937	O15259
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000485405, ENST00000254521, ENST00000367913, ENST00000367915, ENST00000367917,	ENST00000316534, ENST00000355301, ENST00000393272, ENST00000417665, ENST00000445609, ENST00000418527,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	2 X 2 X 2=8	2 X 2 X 2=8
	# samples	2	2
	** MAII score	log2(2/8*10)=1.32192809488736	log2(2/8*10)=1.32192809488736
Context (manual curation of fusion genes in FusionPDB)	PubMed: HSD17B7 [Title/Abstract] AND NPHP1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	HSD17B7(162762652)-NPHP1(110927575), # samples:3
Anticipated loss of major functional domain due to fusion event.	HSD17B7-NPHP1 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. HSD17B7-NPHP1 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. HSD17B7-NPHP1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. HSD17B7-NPHP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. HSD17B7-NPHP1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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 HSD17B7 (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 NPHP1 (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-C8-A12U-01A	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-
ChimerDB4	BRCA	TCGA-C8-A12U	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-

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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)
ENST00000367917	HSD17B7	chr1	162762652	+	ENST00000316534	NPHP1	chr2	110927575	-	3660	307	68	2179	703
ENST00000367917	HSD17B7	chr1	162762652	+	ENST00000445609	NPHP1	chr2	110927575	-	2467	307	68	2011	647
ENST00000367917	HSD17B7	chr1	162762652	+	ENST00000393272	NPHP1	chr2	110927575	-	2632	307	68	2176	702
ENST00000367917	HSD17B7	chr1	162762652	+	ENST00000355301	NPHP1	chr2	110927575	-	2092	307	68	2008	646
ENST00000367917	HSD17B7	chr1	162762652	+	ENST00000417665	NPHP1	chr2	110927575	-	2197	307	68	2113	681
ENST00000254521	HSD17B7	chr1	162762652	+	ENST00000316534	NPHP1	chr2	110927575	-	3647	294	55	2166	703
ENST00000254521	HSD17B7	chr1	162762652	+	ENST00000445609	NPHP1	chr2	110927575	-	2454	294	55	1998	647
ENST00000254521	HSD17B7	chr1	162762652	+	ENST00000393272	NPHP1	chr2	110927575	-	2619	294	55	2163	702
ENST00000254521	HSD17B7	chr1	162762652	+	ENST00000355301	NPHP1	chr2	110927575	-	2079	294	55	1995	646
ENST00000254521	HSD17B7	chr1	162762652	+	ENST00000417665	NPHP1	chr2	110927575	-	2184	294	55	2100	681
ENST00000367913	HSD17B7	chr1	162762652	+	ENST00000316534	NPHP1	chr2	110927575	-	3604	251	12	2123	703
ENST00000367913	HSD17B7	chr1	162762652	+	ENST00000445609	NPHP1	chr2	110927575	-	2411	251	12	1955	647
ENST00000367913	HSD17B7	chr1	162762652	+	ENST00000393272	NPHP1	chr2	110927575	-	2576	251	12	2120	702
ENST00000367913	HSD17B7	chr1	162762652	+	ENST00000355301	NPHP1	chr2	110927575	-	2036	251	12	1952	646
ENST00000367913	HSD17B7	chr1	162762652	+	ENST00000417665	NPHP1	chr2	110927575	-	2141	251	12	2057	681

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
ENST00000367917	ENST00000316534	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.000442553	0.99955744
ENST00000367917	ENST00000445609	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.000976746	0.9990232
ENST00000367917	ENST00000393272	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.000672099	0.9993279
ENST00000367917	ENST00000355301	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.002956543	0.99704343
ENST00000367917	ENST00000417665	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.003553407	0.99644667
ENST00000254521	ENST00000316534	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.000441524	0.9995585
ENST00000254521	ENST00000445609	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.000961678	0.99903834
ENST00000254521	ENST00000393272	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.000665997	0.9993339
ENST00000254521	ENST00000355301	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.002876761	0.9971232
ENST00000254521	ENST00000417665	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.003468485	0.99653155
ENST00000367913	ENST00000316534	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.000446761	0.99955326
ENST00000367913	ENST00000445609	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.000974772	0.9990252
ENST00000367913	ENST00000393272	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.000673549	0.99932647
ENST00000367913	ENST00000355301	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.003000277	0.9969997
ENST00000367913	ENST00000417665	HSD17B7	chr1	162762652	+	NPHP1	chr2	110927575	-	0.003614634	0.99638534

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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

>37686_37686_1_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000254521_NPHP1_chr2_110927575_ENST00000316534_length(amino acids)=703AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQS
RGRIFLVSKPVLQQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWS
CKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNS
TGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPE
TLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDC

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

>37686_37686_2_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000254521_NPHP1_chr2_110927575_ENST00000355301_length(amino acids)=646AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELM
PSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRIL
PCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSV
FYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDAL
RSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDL

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

>37686_37686_3_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000254521_NPHP1_chr2_110927575_ENST00000393272_length(amino acids)=702AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQS
RGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSC
KMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNST
GERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPET
LIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCV

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

>37686_37686_4_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000254521_NPHP1_chr2_110927575_ENST00000417665_length(amino acids)=681AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELM
PSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRIL
PCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSV
FYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDAL
RSSWAGKESTLKRSEKLSKPVSPREGKKKWPELYHILKTMHCSCLPCYKIMRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETET

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

>37686_37686_5_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000254521_NPHP1_chr2_110927575_ENST00000445609_length(amino acids)=647AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPEL
MPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRI
LPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGS
VFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDA
LRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFD

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

>37686_37686_6_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000367913_NPHP1_chr2_110927575_ENST00000316534_length(amino acids)=703AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQS
RGRIFLVSKPVLQQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWS
CKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNS
TGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPE
TLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDC

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

>37686_37686_7_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000367913_NPHP1_chr2_110927575_ENST00000355301_length(amino acids)=646AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELM
PSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRIL
PCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSV
FYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDAL
RSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDL

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

>37686_37686_8_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000367913_NPHP1_chr2_110927575_ENST00000393272_length(amino acids)=702AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQS
RGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSC
KMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNST
GERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPET
LIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCV

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

>37686_37686_9_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000367913_NPHP1_chr2_110927575_ENST00000417665_length(amino acids)=681AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELM
PSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRIL
PCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSV
FYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDAL
RSSWAGKESTLKRSEKLSKPVSPREGKKKWPELYHILKTMHCSCLPCYKIMRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETET

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

>37686_37686_10_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000367913_NPHP1_chr2_110927575_ENST00000445609_length(amino acids)=647AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPEL
MPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRI
LPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGS
VFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDA
LRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFD

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

>37686_37686_11_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000367917_NPHP1_chr2_110927575_ENST00000316534_length(amino acids)=703AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQS
RGRIFLVSKPVLQQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWS
CKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNS
TGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPE
TLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDC

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

>37686_37686_12_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000367917_NPHP1_chr2_110927575_ENST00000355301_length(amino acids)=646AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELM
PSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRIL
PCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSV
FYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDAL
RSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDL

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

>37686_37686_13_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000367917_NPHP1_chr2_110927575_ENST00000393272_length(amino acids)=702AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQS
RGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSC
KMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNST
GERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPET
LIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCV

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

>37686_37686_14_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000367917_NPHP1_chr2_110927575_ENST00000417665_length(amino acids)=681AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELM
PSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRIL
PCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSV
FYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDAL
RSSWAGKESTLKRSEKLSKPVSPREGKKKWPELYHILKTMHCSCLPCYKIMRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETET

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

>37686_37686_15_HSD17B7-NPHP1_HSD17B7_chr1_162762652_ENST00000367917_NPHP1_chr2_110927575_ENST00000445609_length(amino acids)=647AA_BP=79
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPEL
MPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRI
LPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGS
VFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDA
LRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFD

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

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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/chr1:162762652/chr2:110927575)
- 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
HSD17B7 P56937	NPHP1 O15259
FUNCTION: Bifunctional enzyme involved in steroid-hormone metabolism and cholesterol biosynthesis (PubMed:12574203, PubMed:12732193, PubMed:12829805, PubMed:20659585, PubMed:19772289, PubMed:11165030). Catalyzes the NADP(H)-dependent reduction of estrogens and androgens and regulates the biological potency of these steroids. Converts estrone (E1) to a more potent estrogen, 17beta-estradiol (E2) (PubMed:12574203, PubMed:12732193, PubMed:19772289). Converts dihydrotestosterone (DHT) to its inactive form 5a-androstane-3b,17b-diol (PubMed:12574203, PubMed:12732193, PubMed:19772289). Converts moderately progesterone to 3beta-hydroxypregn-4-ene-20-one, leading to its inactivation (PubMed:12574203, PubMed:12732193). Additionally, participates in the post-squalene cholesterol biosynthesis, as a 3-ketosteroid reductase (PubMed:12829805, PubMed:20659585, PubMed:11165030). {ECO:0000269\|PubMed:11165030, ECO:0000269\|PubMed:12574203, ECO:0000269\|PubMed:12732193, ECO:0000269\|PubMed:12829805, ECO:0000269\|PubMed:19772289, ECO:0000269\|PubMed:20659585}.; FUNCTION: [Isoform 3]: Does not have enzymatic activities toward E1 and DHT. {ECO:0000269\|PubMed:12732193}.	FUNCTION: Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling (By similarity). May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development (By similarity). In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity). {ECO:0000250\|UniProtKB:Q9QY53}.

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

HSD17B7

chr1:162762652

chr2:110927575

ENST00000254521

8_15

79.66666666666667

342.0

Nucleotide binding

NAD

Hgene

HSD17B7

chr1:162762652

chr2:110927575

ENST00000367917

8_15

79.66666666666667

307.0

Nucleotide binding

NAD

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000316534

127_150

109.66666666666667

734.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000355301

127_150

47.666666666666664

615.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000393272

127_150

109.66666666666667

733.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000445609

127_150

109.66666666666667

678.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000316534

116_147

109.66666666666667

734.0

Compositional bias

Note=Glu-rich

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000316534

212_227

109.66666666666667

734.0

Compositional bias

Note=Glu-rich

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000355301

116_147

47.666666666666664

615.0

Compositional bias

Note=Glu-rich

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000355301

212_227

47.666666666666664

615.0

Compositional bias

Note=Glu-rich

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000393272

116_147

109.66666666666667

733.0

Compositional bias

Note=Glu-rich

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000393272

212_227

109.66666666666667

733.0

Compositional bias

Note=Glu-rich

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000445609

116_147

109.66666666666667

678.0

Compositional bias

Note=Glu-rich

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000445609

212_227

109.66666666666667

678.0

Compositional bias

Note=Glu-rich

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000316534

152_212

109.66666666666667

734.0

Domain

SH3

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000355301

152_212

47.666666666666664

615.0

Domain

SH3

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000393272

152_212

109.66666666666667

733.0

Domain

SH3

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000445609

152_212

109.66666666666667

678.0

Domain

SH3

- 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

HSD17B7

chr1:162762652

chr2:110927575

ENST00000254521

1_229

79.66666666666667

342.0

Topological domain

Extracellular

Hgene

HSD17B7

chr1:162762652

chr2:110927575

ENST00000254521

251_341

79.66666666666667

342.0

Topological domain

Cytoplasmic

Hgene

HSD17B7

chr1:162762652

chr2:110927575

ENST00000367917

1_229

79.66666666666667

307.0

Topological domain

Extracellular

Hgene

HSD17B7

chr1:162762652

chr2:110927575

ENST00000367917

251_341

79.66666666666667

307.0

Topological domain

Cytoplasmic

Hgene

HSD17B7

chr1:162762652

chr2:110927575

ENST00000254521

230_250

79.66666666666667

342.0

Transmembrane

Helical

Hgene

HSD17B7

chr1:162762652

chr2:110927575

ENST00000367917

230_250

79.66666666666667

307.0

Transmembrane

Helical

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000316534

3_105

109.66666666666667

734.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000355301

3_105

47.666666666666664

615.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000393272

3_105

109.66666666666667

733.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

NPHP1

chr1:162762652

chr2:110927575

ENST00000445609

3_105

109.66666666666667

678.0

Coiled coil

Ontology_term=ECO:0000255

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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 >>>1443_HSD17B7_162762652_NPHP1_110927575_ranked_0.pdb	HSD17B7	162762652	162762652	ENST00000417665	NPHP1	chr2	110927575	-	MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASKELKQRVGAPTEEEEE SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQS RGRIFLVSKPVLQQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWS CKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNS TGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPE TLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDC	703

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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.

HSD17B7_pLDDT.png

NPHP1_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
HSD17B7
NPHP1

- 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 HSD17B7-NPHP1

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 HSD17B7-NPHP1

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