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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:SHANK1-UNC5D

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: SHANK1-UNC5D
	FusionPDB ID: 81547
	FusionGDB2.0 ID: 81547
		Hgene	Tgene
	Gene symbol	SHANK1	UNC5D
	Gene ID	50944	137970
	Gene name	SH3 and multiple ankyrin repeat domains 1	unc-5 netrin receptor D
	Synonyms	SPANK-1\|SSTRIP\|synamon	PRO34692\|Unc5h4
	Cytomap	19q13.33	8p12
	Type of gene	protein-coding	protein-coding
	Description	SH3 and multiple ankyrin repeat domains protein 1SSTR-interacting proteinsomatostatin receptor-interacting protein	netrin receptor UNC5Dnetrin receptor Unc5h4protein unc-5 homolog 4protein unc-5 homolog Dunc-5 homolog 4unc-5 homolog D
	Modification date	20200313	20200313
	UniProtAcc	.	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000293441, ENST00000359082, ENST00000391814, ENST00000391813, ENST00000483981,	ENST00000449677, ENST00000287272, ENST00000404895, ENST00000416672, ENST00000420357, ENST00000453357,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	6 X 5 X 3=90	17 X 13 X 6=1326
	# samples	5	20
	** MAII score	log2(5/90*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(20/1326*10)=-2.72900887033786 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: SHANK1 [Title/Abstract] AND UNC5D [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	SHANK1(51214628)-UNC5D(35541065), # samples:1
Anticipated loss of major functional domain due to fusion event.	SHANK1-UNC5D 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. SHANK1-UNC5D 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. SHANK1-UNC5D 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. SHANK1-UNC5D 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. SHANK1-UNC5D seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. SHANK1-UNC5D seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
Tgene	UNC5D	GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	26235030

Fusion gene breakpoints across SHANK1 (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 UNC5D (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-AC-A2BM-01A	SHANK1	chr19	51214628	-	UNC5D	chr8	35541065	+

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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)
ENST00000293441	SHANK1	chr19	51214628	-	ENST00000287272	UNC5D	chr8	35541065	+	9168	1096	19	3180	1053
ENST00000293441	SHANK1	chr19	51214628	-	ENST00000453357	UNC5D	chr8	35541065	+	7487	1096	19	3387	1122
ENST00000293441	SHANK1	chr19	51214628	-	ENST00000404895	UNC5D	chr8	35541065	+	3450	1096	19	3387	1122
ENST00000293441	SHANK1	chr19	51214628	-	ENST00000420357	UNC5D	chr8	35541065	+	3472	1096	19	3186	1055
ENST00000293441	SHANK1	chr19	51214628	-	ENST00000416672	UNC5D	chr8	35541065	+	4048	1096	19	3402	1127
ENST00000359082	SHANK1	chr19	51214628	-	ENST00000287272	UNC5D	chr8	35541065	+	9149	1077	0	3161	1053
ENST00000359082	SHANK1	chr19	51214628	-	ENST00000453357	UNC5D	chr8	35541065	+	7468	1077	0	3368	1122
ENST00000359082	SHANK1	chr19	51214628	-	ENST00000404895	UNC5D	chr8	35541065	+	3431	1077	0	3368	1122
ENST00000359082	SHANK1	chr19	51214628	-	ENST00000420357	UNC5D	chr8	35541065	+	3453	1077	0	3167	1055
ENST00000359082	SHANK1	chr19	51214628	-	ENST00000416672	UNC5D	chr8	35541065	+	4029	1077	0	3383	1127

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
ENST00000293441	ENST00000287272	SHANK1	chr19	51214628	-	UNC5D	chr8	35541065	+	0.000127211	0.9998728
ENST00000293441	ENST00000453357	SHANK1	chr19	51214628	-	UNC5D	chr8	35541065	+	0.000250714	0.99974924
ENST00000293441	ENST00000404895	SHANK1	chr19	51214628	-	UNC5D	chr8	35541065	+	0.00151229	0.9984877
ENST00000293441	ENST00000420357	SHANK1	chr19	51214628	-	UNC5D	chr8	35541065	+	0.001750052	0.99824995
ENST00000293441	ENST00000416672	SHANK1	chr19	51214628	-	UNC5D	chr8	35541065	+	0.000913031	0.999087
ENST00000359082	ENST00000287272	SHANK1	chr19	51214628	-	UNC5D	chr8	35541065	+	0.000125013	0.99987495
ENST00000359082	ENST00000453357	SHANK1	chr19	51214628	-	UNC5D	chr8	35541065	+	0.000245644	0.99975437
ENST00000359082	ENST00000404895	SHANK1	chr19	51214628	-	UNC5D	chr8	35541065	+	0.001483979	0.998516
ENST00000359082	ENST00000420357	SHANK1	chr19	51214628	-	UNC5D	chr8	35541065	+	0.001718268	0.9982817
ENST00000359082	ENST00000416672	SHANK1	chr19	51214628	-	UNC5D	chr8	35541065	+	0.000893261	0.9991067

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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

>81547_81547_1_SHANK1-UNC5D_SHANK1_chr19_51214628_ENST00000293441_UNC5D_chr8_35541065_ENST00000287272_length(amino acids)=1053AA_BP=359
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF
NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG
GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKV
EWLKNEEPIDSEQDENIDTRADHNLIIRQARLSDSGNYTCMAANIVAKRRSLSATVVVYVDGSWEVWSEWSVCSPECEHLRIRECTAPPP
RNGGKFCEGLSQESENCTDGLCILDKKPLHEIKPQSIENASDIALYSGLGAAVVAVAVLVIGVTLYRRSQSDYGVDVIDSSALTGNSLLL
NSAMQPDLTVSRTYSGPICLQDPLDKELMTESSLFNPLSDIKVKVQSSFMVSLGVSERAEYHGKNHSRTFPHGNNHSFSTMHPRNKMPYI
QNLSSLPTRTELRTTGVFGHLGGRLVMPNTGVSLLIPHGAIPEENSWEIYMSINQGEPSLQSDGSEVLLSPEVTCGPPDMIVTTPFALTI
PHCADVSSEHWNIHLKKRTQQGKWEEVMSVEDESTSCYCLLDPFACHVLLDSFGTYALTGEPITDCAVKQLKVAVFGCMSCNSLDYNLRV
YCVDNTPCAFQEVVSDERHQGGQLLEEPKLLHFKGNTFSLQISVLDIPPFLWRIKPFTACQEVPFSRVWCSNRQPLHCAFSLERYTPTTT
QLSCKICIRQLKGHEQILQVQTSILESERETITFFAQEDSTFPAQTGPKAFKIPYSIRQRICATFDTPNAKGKDWQMLAQKNSINRNLSY

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>81547_81547_2_SHANK1-UNC5D_SHANK1_chr19_51214628_ENST00000293441_UNC5D_chr8_35541065_ENST00000404895_length(amino acids)=1122AA_BP=359
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF
NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG
GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKV
EWLKNEEPIDSEQDENIDTRADHNLIIRQARLSDSGNYTCMAANIVAKRRSLSATVVVYVNGGWSSWTEWSACNVRCGRGWQKRSRTCTN
PAPLNGGAFCEGMSVQKITCTSLCPVDGSWEVWSEWSVCSPECEHLRIRECTAPPPRNGGKFCEGLSQESENCTDGLCILDKKPLHEIKP
QSIENASDIALYSGLGAAVVAVAVLVIGVTLYRRSQSDYGVDVIDSSALTGGFQTFNFKTVRQGNSLLLNSAMQPDLTVSRTYSGPICLQ
DPLDKELMTESSLFNPLSDIKVKVQSSFMVSLGVSERAEYHGKNHSRTFPHGNNHSFSTMHPRNKMPYIQNLSSLPTRTELRTTGVFGHL
GGRLVMPNTGVSLLIPHGAIPEENSWEIYMSINQGEPSLQSDGSEVLLSPEVTCGPPDMIVTTPFALTIPHCADVSSEHWNIHLKKRTQQ
GKWEEVMSVEDESTSCYCLLDPFACHVLLDSFGTYALTGEPITDCAVKQLKVAVFGCMSCNSLDYNLRVYCVDNTPCAFQEVVSDERHQG
GQLLEEPKLLHFKGNTFSLQISVLDIPPFLWRIKPFTACQEVPFSRVWCSNRQPLHCAFSLERYTPTTTQLSCKICIRQLKGHEQILQVQ
TSILESERETITFFAQEDSTFPAQTGPKAFKIPYSIRQRICATFDTPNAKGKDWQMLAQKNSINRNLSYFATQSSPSAVILNLWEARHQH

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>81547_81547_3_SHANK1-UNC5D_SHANK1_chr19_51214628_ENST00000293441_UNC5D_chr8_35541065_ENST00000416672_length(amino acids)=1127AA_BP=359
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF
NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG
GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKV
EWLKNEEPIDSEQDENIDTRADHNLIIRQARLSDSGNYTCMAANIVAKRRSLSATVVVYVNGGWSSWTEWSACNVRCGRGWQKRSRTCTN
PAPLNGGAFCEGMSVQKITCTSLCPVDGSWEVWSEWSVCSPECEHLRIRECTAPPPRNGGKFCEGLSQESENCTDGLCILDKKPLHEIKP
QRWSRRGIENASDIALYSGLGAAVVAVAVLVIGVTLYRRSQSDYGVDVIDSSALTGGFQTFNFKTVRQGNSLLLNSAMQPDLTVSRTYSG
PICLQDPLDKELMTESSLFNPLSDIKVKVQSSFMVSLGVSERAEYHGKNHSRTFPHGNNHSFSTMHPRNKMPYIQNLSSLPTRTELRTTG
VFGHLGGRLVMPNTGVSLLIPHGAIPEENSWEIYMSINQGEPSLQSDGSEVLLSPEVTCGPPDMIVTTPFALTIPHCADVSSEHWNIHLK
KRTQQGKWEEVMSVEDESTSCYCLLDPFACHVLLDSFGTYALTGEPITDCAVKQLKVAVFGCMSCNSLDYNLRVYCVDNTPCAFQEVVSD
ERHQGGQLLEEPKLLHFKGNTFSLQISVLDIPPFLWRIKPFTACQEVPFSRVWCSNRQPLHCAFSLERYTPTTTQLSCKICIRQLKGHEQ
ILQVQTSILESERETITFFAQEDSTFPAQTGPKAFKIPYSIRQRICATFDTPNAKGKDWQMLAQKNSINRNLSYFATQSSPSAVILNLWE

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>81547_81547_4_SHANK1-UNC5D_SHANK1_chr19_51214628_ENST00000293441_UNC5D_chr8_35541065_ENST00000420357_length(amino acids)=1055AA_BP=359
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF
NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG
GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKV
EWLKNEEPIDSEQDENIDTRADHNLIIRQARLSDSGNYTCMAANIVAKRRSLSATVVVYVDGSWEVWSEWSVCSPECEHLRIRECTAPPP
RNGGKFCEGLSQESENCTDGLCILGIENASDIALYSGLGAAVVAVAVLVIGVTLYRRSQSDYGVDVIDSSALTGGFQTFNFKTVRQGNSL
LLNSAMQPDLTVSRTYSGPICLQDPLDKELMTESSLFNPLSDIKVKVQSSFMVSLGVSERAEYHGKNHSRTFPHGNNHSFSTMHPRNKMP
YIQNLSSLPTRTELRTTGVFGHLGGRLVMPNTGVSLLIPHGAIPEENSWEIYMSINQGEPSLQSDGSEVLLSPEVTCGPPDMIVTTPFAL
TIPHCADVSSEHWNIHLKKRTQQGKWEEVMSVEDESTSCYCLLDPFACHVLLDSFGTYALTGEPITDCAVKQLKVAVFGCMSCNSLDYNL
RVYCVDNTPCAFQEVVSDERHQGGQLLEEPKLLHFKGNTFSLQISVLDIPPFLWRIKPFTACQEVPFSRVWCSNRQPLHCAFSLERYTPT
TTQLSCKICIRQLKGHEQILQVQTSILESERETITFFAQEDSTFPAQTGPKAFKIPYSIRQRICATFDTPNAKGKDWQMLAQKNSINRNL

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>81547_81547_5_SHANK1-UNC5D_SHANK1_chr19_51214628_ENST00000293441_UNC5D_chr8_35541065_ENST00000453357_length(amino acids)=1122AA_BP=359
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF
NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG
GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKV
EWLKNEEPIDSEQDENIDTRADHNLIIRQARLSDSGNYTCMAANIVAKRRSLSATVVVYVNGGWSSWTEWSACNVRCGRGWQKRSRTCTN
PAPLNGGAFCEGMSVQKITCTSLCPVDGSWEVWSEWSVCSPECEHLRIRECTAPPPRNGGKFCEGLSQESENCTDGLCILDKKPLHEIKP
QSIENASDIALYSGLGAAVVAVAVLVIGVTLYRRSQSDYGVDVIDSSALTGGFQTFNFKTVRQGNSLLLNSAMQPDLTVSRTYSGPICLQ
DPLDKELMTESSLFNPLSDIKVKVQSSFMVSLGVSERAEYHGKNHSRTFPHGNNHSFSTMHPRNKMPYIQNLSSLPTRTELRTTGVFGHL
GGRLVMPNTGVSLLIPHGAIPEENSWEIYMSINQGEPSLQSDGSEVLLSPEVTCGPPDMIVTTPFALTIPHCADVSSEHWNIHLKKRTQQ
GKWEEVMSVEDESTSCYCLLDPFACHVLLDSFGTYALTGEPITDCAVKQLKVAVFGCMSCNSLDYNLRVYCVDNTPCAFQEVVSDERHQG
GQLLEEPKLLHFKGNTFSLQISVLDIPPFLWRIKPFTACQEVPFSRVWCSNRQPLHCAFSLERYTPTTTQLSCKICIRQLKGHEQILQVQ
TSILESERETITFFAQEDSTFPAQTGPKAFKIPYSIRQRICATFDTPNAKGKDWQMLAQKNSINRNLSYFATQSSPSAVILNLWEARHQH

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>81547_81547_6_SHANK1-UNC5D_SHANK1_chr19_51214628_ENST00000359082_UNC5D_chr8_35541065_ENST00000287272_length(amino acids)=1053AA_BP=359
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF
NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG
GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKV
EWLKNEEPIDSEQDENIDTRADHNLIIRQARLSDSGNYTCMAANIVAKRRSLSATVVVYVDGSWEVWSEWSVCSPECEHLRIRECTAPPP
RNGGKFCEGLSQESENCTDGLCILDKKPLHEIKPQSIENASDIALYSGLGAAVVAVAVLVIGVTLYRRSQSDYGVDVIDSSALTGNSLLL
NSAMQPDLTVSRTYSGPICLQDPLDKELMTESSLFNPLSDIKVKVQSSFMVSLGVSERAEYHGKNHSRTFPHGNNHSFSTMHPRNKMPYI
QNLSSLPTRTELRTTGVFGHLGGRLVMPNTGVSLLIPHGAIPEENSWEIYMSINQGEPSLQSDGSEVLLSPEVTCGPPDMIVTTPFALTI
PHCADVSSEHWNIHLKKRTQQGKWEEVMSVEDESTSCYCLLDPFACHVLLDSFGTYALTGEPITDCAVKQLKVAVFGCMSCNSLDYNLRV
YCVDNTPCAFQEVVSDERHQGGQLLEEPKLLHFKGNTFSLQISVLDIPPFLWRIKPFTACQEVPFSRVWCSNRQPLHCAFSLERYTPTTT
QLSCKICIRQLKGHEQILQVQTSILESERETITFFAQEDSTFPAQTGPKAFKIPYSIRQRICATFDTPNAKGKDWQMLAQKNSINRNLSY

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>81547_81547_7_SHANK1-UNC5D_SHANK1_chr19_51214628_ENST00000359082_UNC5D_chr8_35541065_ENST00000404895_length(amino acids)=1122AA_BP=359
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF
NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG
GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKV
EWLKNEEPIDSEQDENIDTRADHNLIIRQARLSDSGNYTCMAANIVAKRRSLSATVVVYVNGGWSSWTEWSACNVRCGRGWQKRSRTCTN
PAPLNGGAFCEGMSVQKITCTSLCPVDGSWEVWSEWSVCSPECEHLRIRECTAPPPRNGGKFCEGLSQESENCTDGLCILDKKPLHEIKP
QSIENASDIALYSGLGAAVVAVAVLVIGVTLYRRSQSDYGVDVIDSSALTGGFQTFNFKTVRQGNSLLLNSAMQPDLTVSRTYSGPICLQ
DPLDKELMTESSLFNPLSDIKVKVQSSFMVSLGVSERAEYHGKNHSRTFPHGNNHSFSTMHPRNKMPYIQNLSSLPTRTELRTTGVFGHL
GGRLVMPNTGVSLLIPHGAIPEENSWEIYMSINQGEPSLQSDGSEVLLSPEVTCGPPDMIVTTPFALTIPHCADVSSEHWNIHLKKRTQQ
GKWEEVMSVEDESTSCYCLLDPFACHVLLDSFGTYALTGEPITDCAVKQLKVAVFGCMSCNSLDYNLRVYCVDNTPCAFQEVVSDERHQG
GQLLEEPKLLHFKGNTFSLQISVLDIPPFLWRIKPFTACQEVPFSRVWCSNRQPLHCAFSLERYTPTTTQLSCKICIRQLKGHEQILQVQ
TSILESERETITFFAQEDSTFPAQTGPKAFKIPYSIRQRICATFDTPNAKGKDWQMLAQKNSINRNLSYFATQSSPSAVILNLWEARHQH

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>81547_81547_8_SHANK1-UNC5D_SHANK1_chr19_51214628_ENST00000359082_UNC5D_chr8_35541065_ENST00000416672_length(amino acids)=1127AA_BP=359
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF
NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG
GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKV
EWLKNEEPIDSEQDENIDTRADHNLIIRQARLSDSGNYTCMAANIVAKRRSLSATVVVYVNGGWSSWTEWSACNVRCGRGWQKRSRTCTN
PAPLNGGAFCEGMSVQKITCTSLCPVDGSWEVWSEWSVCSPECEHLRIRECTAPPPRNGGKFCEGLSQESENCTDGLCILDKKPLHEIKP
QRWSRRGIENASDIALYSGLGAAVVAVAVLVIGVTLYRRSQSDYGVDVIDSSALTGGFQTFNFKTVRQGNSLLLNSAMQPDLTVSRTYSG
PICLQDPLDKELMTESSLFNPLSDIKVKVQSSFMVSLGVSERAEYHGKNHSRTFPHGNNHSFSTMHPRNKMPYIQNLSSLPTRTELRTTG
VFGHLGGRLVMPNTGVSLLIPHGAIPEENSWEIYMSINQGEPSLQSDGSEVLLSPEVTCGPPDMIVTTPFALTIPHCADVSSEHWNIHLK
KRTQQGKWEEVMSVEDESTSCYCLLDPFACHVLLDSFGTYALTGEPITDCAVKQLKVAVFGCMSCNSLDYNLRVYCVDNTPCAFQEVVSD
ERHQGGQLLEEPKLLHFKGNTFSLQISVLDIPPFLWRIKPFTACQEVPFSRVWCSNRQPLHCAFSLERYTPTTTQLSCKICIRQLKGHEQ
ILQVQTSILESERETITFFAQEDSTFPAQTGPKAFKIPYSIRQRICATFDTPNAKGKDWQMLAQKNSINRNLSYFATQSSPSAVILNLWE

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

>81547_81547_9_SHANK1-UNC5D_SHANK1_chr19_51214628_ENST00000359082_UNC5D_chr8_35541065_ENST00000420357_length(amino acids)=1055AA_BP=359
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF
NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG
GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKV
EWLKNEEPIDSEQDENIDTRADHNLIIRQARLSDSGNYTCMAANIVAKRRSLSATVVVYVDGSWEVWSEWSVCSPECEHLRIRECTAPPP
RNGGKFCEGLSQESENCTDGLCILGIENASDIALYSGLGAAVVAVAVLVIGVTLYRRSQSDYGVDVIDSSALTGGFQTFNFKTVRQGNSL
LLNSAMQPDLTVSRTYSGPICLQDPLDKELMTESSLFNPLSDIKVKVQSSFMVSLGVSERAEYHGKNHSRTFPHGNNHSFSTMHPRNKMP
YIQNLSSLPTRTELRTTGVFGHLGGRLVMPNTGVSLLIPHGAIPEENSWEIYMSINQGEPSLQSDGSEVLLSPEVTCGPPDMIVTTPFAL
TIPHCADVSSEHWNIHLKKRTQQGKWEEVMSVEDESTSCYCLLDPFACHVLLDSFGTYALTGEPITDCAVKQLKVAVFGCMSCNSLDYNL
RVYCVDNTPCAFQEVVSDERHQGGQLLEEPKLLHFKGNTFSLQISVLDIPPFLWRIKPFTACQEVPFSRVWCSNRQPLHCAFSLERYTPT
TTQLSCKICIRQLKGHEQILQVQTSILESERETITFFAQEDSTFPAQTGPKAFKIPYSIRQRICATFDTPNAKGKDWQMLAQKNSINRNL

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

>81547_81547_10_SHANK1-UNC5D_SHANK1_chr19_51214628_ENST00000359082_UNC5D_chr8_35541065_ENST00000453357_length(amino acids)=1122AA_BP=359
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF
NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG
GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKV
EWLKNEEPIDSEQDENIDTRADHNLIIRQARLSDSGNYTCMAANIVAKRRSLSATVVVYVNGGWSSWTEWSACNVRCGRGWQKRSRTCTN
PAPLNGGAFCEGMSVQKITCTSLCPVDGSWEVWSEWSVCSPECEHLRIRECTAPPPRNGGKFCEGLSQESENCTDGLCILDKKPLHEIKP
QSIENASDIALYSGLGAAVVAVAVLVIGVTLYRRSQSDYGVDVIDSSALTGGFQTFNFKTVRQGNSLLLNSAMQPDLTVSRTYSGPICLQ
DPLDKELMTESSLFNPLSDIKVKVQSSFMVSLGVSERAEYHGKNHSRTFPHGNNHSFSTMHPRNKMPYIQNLSSLPTRTELRTTGVFGHL
GGRLVMPNTGVSLLIPHGAIPEENSWEIYMSINQGEPSLQSDGSEVLLSPEVTCGPPDMIVTTPFALTIPHCADVSSEHWNIHLKKRTQQ
GKWEEVMSVEDESTSCYCLLDPFACHVLLDSFGTYALTGEPITDCAVKQLKVAVFGCMSCNSLDYNLRVYCVDNTPCAFQEVVSDERHQG
GQLLEEPKLLHFKGNTFSLQISVLDIPPFLWRIKPFTACQEVPFSRVWCSNRQPLHCAFSLERYTPTTTQLSCKICIRQLKGHEQILQVQ
TSILESERETITFFAQEDSTFPAQTGPKAFKIPYSIRQRICATFDTPNAKGKDWQMLAQKNSINRNLSYFATQSSPSAVILNLWEARHQH

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

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/chr19:51214628/chr8:35541065)
- 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
.	.
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

212_245

359.0

2162.0

Repeat

Note=ANK 1

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

246_278

359.0

2162.0

Repeat

Note=ANK 2

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

279_312

359.0

2162.0

Repeat

Note=ANK 3

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

313_345

359.0

2162.0

Repeat

Note=ANK 4

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

212_245

359.0

2153.0

Repeat

Note=ANK 1

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

246_278

359.0

2153.0

Repeat

Note=ANK 2

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

279_312

359.0

2153.0

Repeat

Note=ANK 3

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

313_345

359.0

2153.0

Repeat

Note=ANK 4

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000404895

252_306

190.0

954.0

Domain

TSP type-1 1

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000404895

308_360

190.0

954.0

Domain

TSP type-1 2

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000404895

542_682

190.0

954.0

Domain

ZU5

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000404895

859_936

190.0

954.0

Domain

Note=Death

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000453357

252_306

185.0

949.0

Domain

TSP type-1 1

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000453357

308_360

185.0

949.0

Domain

TSP type-1 2

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000453357

542_682

185.0

949.0

Domain

ZU5

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000453357

859_936

185.0

949.0

Domain

Note=Death

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000404895

401_953

190.0

954.0

Topological domain

Cytoplasmic

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000453357

401_953

185.0

949.0

Topological domain

Cytoplasmic

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000404895

380_400

190.0

954.0

Transmembrane

Helical

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000453357

380_400

185.0

949.0

Transmembrane

Helical

- 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

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

1002_1007

359.0

2162.0

Compositional bias

Note=Poly-His

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

1014_1019

359.0

2162.0

Compositional bias

Note=Poly-His

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

1189_1195

359.0

2162.0

Compositional bias

Note=Poly-Gly

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

1709_1717

359.0

2162.0

Compositional bias

Note=Poly-Gly

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

1844_1854

359.0

2162.0

Compositional bias

Note=Poly-Pro

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

1896_1902

359.0

2162.0

Compositional bias

Note=Poly-Gly

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

1970_1979

359.0

2162.0

Compositional bias

Note=Poly-Ser

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

1002_1007

359.0

2153.0

Compositional bias

Note=Poly-His

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

1014_1019

359.0

2153.0

Compositional bias

Note=Poly-His

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

1189_1195

359.0

2153.0

Compositional bias

Note=Poly-Gly

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

1709_1717

359.0

2153.0

Compositional bias

Note=Poly-Gly

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

1844_1854

359.0

2153.0

Compositional bias

Note=Poly-Pro

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

1896_1902

359.0

2153.0

Compositional bias

Note=Poly-Gly

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

1970_1979

359.0

2153.0

Compositional bias

Note=Poly-Ser

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

1002_1007

0.0

1549.0

Compositional bias

Note=Poly-His

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

1014_1019

0.0

1549.0

Compositional bias

Note=Poly-His

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

1189_1195

0.0

1549.0

Compositional bias

Note=Poly-Gly

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

1709_1717

0.0

1549.0

Compositional bias

Note=Poly-Gly

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

1844_1854

0.0

1549.0

Compositional bias

Note=Poly-Pro

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

1896_1902

0.0

1549.0

Compositional bias

Note=Poly-Gly

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

1970_1979

0.0

1549.0

Compositional bias

Note=Poly-Ser

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

2098_2161

359.0

2162.0

Domain

SAM

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

554_613

359.0

2162.0

Domain

SH3

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

663_757

359.0

2162.0

Domain

PDZ

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

2098_2161

359.0

2153.0

Domain

SAM

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

554_613

359.0

2153.0

Domain

SH3

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

663_757

359.0

2153.0

Domain

PDZ

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

2098_2161

0.0

1549.0

Domain

SAM

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

554_613

0.0

1549.0

Domain

SH3

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

663_757

0.0

1549.0

Domain

PDZ

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

346_378

359.0

2162.0

Repeat

Note=ANK 5

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000293441

379_395

359.0

2162.0

Repeat

Note=ANK 6

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

346_378

359.0

2153.0

Repeat

Note=ANK 5

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000359082

379_395

359.0

2153.0

Repeat

Note=ANK 6

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

212_245

0.0

1549.0

Repeat

Note=ANK 1

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

246_278

0.0

1549.0

Repeat

Note=ANK 2

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

279_312

0.0

1549.0

Repeat

Note=ANK 3

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

313_345

0.0

1549.0

Repeat

Note=ANK 4

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

346_378

0.0

1549.0

Repeat

Note=ANK 5

Hgene

SHANK1

chr19:51214628

chr8:35541065

ENST00000391813

379_395

0.0

1549.0

Repeat

Note=ANK 6

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000404895

153_244

190.0

954.0

Domain

Note=Ig-like C2-type

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000404895

54_151

190.0

954.0

Domain

Note=Ig-like

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000453357

153_244

185.0

949.0

Domain

Note=Ig-like C2-type

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000453357

54_151

185.0

949.0

Domain

Note=Ig-like

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000404895

33_379

190.0

954.0

Topological domain

Extracellular

Tgene

UNC5D

chr19:51214628

chr8:35541065

ENST00000453357

33_379

185.0

949.0

Topological domain

Extracellular

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
SHANK1
UNC5D

- 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 SHANK1-UNC5D

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to SHANK1-UNC5D

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