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level2

	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:DHX30-NT5DC2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: DHX30-NT5DC2
	FusionPDB ID: 22652
	FusionGDB2.0 ID: 22652
		Hgene	Tgene
	Gene symbol	DHX30	NT5DC2
	Gene ID	22907	64943
	Gene name	DExH-box helicase 30	5'-nucleotidase domain containing 2
	Synonyms	DDX30\|NEDMIAL\|RETCOR	-
	Cytomap	3p21.31	3p21.1
	Type of gene	protein-coding	protein-coding
	Description	ATP-dependent RNA helicase DHX30DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30DEAH (Asp-Glu-Ala-His) box helicase 30DEAH (Asp-Glu-Ala-His) box polypeptide 30DEAH box protein 30DEAH-box helicase 30putative ATP-dependent RNA helicase DHX30retina co-	5'-nucleotidase domain-containing protein 2
	Modification date	20200322	20200313
	UniProtAcc	Q7L2E3	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000348968, ENST00000445061, ENST00000446256, ENST00000457607, ENST00000476446,	ENST00000490681, ENST00000307076, ENST00000307092, ENST00000422318, ENST00000459839,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	13 X 10 X 8=1040	10 X 8 X 7=560
	# samples	15	11
	** MAII score	log2(15/1040*10)=-2.79354912253257 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/560*10)=-2.34792330342031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: DHX30 [Title/Abstract] AND NT5DC2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	DHX30(47870624)-NT5DC2(52562327), # samples:4
Anticipated loss of major functional domain due to fusion event.	DHX30-NT5DC2 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. DHX30-NT5DC2 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. DHX30-NT5DC2 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. DHX30-NT5DC2 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

Fusion gene breakpoints across DHX30 (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 NT5DC2 (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	OV	TCGA-25-1326-01A	DHX30	chr3	47870624	-	NT5DC2	chr3	52562327	-
ChimerDB4	OV	TCGA-25-1326-01A	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-
ChimerDB4	OV	TCGA-25-1326	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-

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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)
ENST00000446256	DHX30	chr3	47870624	+	ENST00000307092	NT5DC2	chr3	52562327	-	1953	821	416	1852	478
ENST00000446256	DHX30	chr3	47870624	+	ENST00000307076	NT5DC2	chr3	52562327	-	1936	821	416	1852	478
ENST00000446256	DHX30	chr3	47870624	+	ENST00000422318	NT5DC2	chr3	52562327	-	1934	821	416	1852	478
ENST00000446256	DHX30	chr3	47870624	+	ENST00000459839	NT5DC2	chr3	52562327	-	1853	821	416	1852	479
ENST00000445061	DHX30	chr3	47870624	+	ENST00000307092	NT5DC2	chr3	52562327	-	1905	773	407	1804	465
ENST00000445061	DHX30	chr3	47870624	+	ENST00000307076	NT5DC2	chr3	52562327	-	1888	773	407	1804	465
ENST00000445061	DHX30	chr3	47870624	+	ENST00000422318	NT5DC2	chr3	52562327	-	1886	773	407	1804	465
ENST00000445061	DHX30	chr3	47870624	+	ENST00000459839	NT5DC2	chr3	52562327	-	1805	773	407	1804	466
ENST00000348968	DHX30	chr3	47870624	+	ENST00000307092	NT5DC2	chr3	52562327	-	1834	702	420	1733	437
ENST00000348968	DHX30	chr3	47870624	+	ENST00000307076	NT5DC2	chr3	52562327	-	1817	702	420	1733	437
ENST00000348968	DHX30	chr3	47870624	+	ENST00000422318	NT5DC2	chr3	52562327	-	1815	702	420	1733	437
ENST00000348968	DHX30	chr3	47870624	+	ENST00000459839	NT5DC2	chr3	52562327	-	1734	702	420	1733	437
ENST00000457607	DHX30	chr3	47870624	+	ENST00000307092	NT5DC2	chr3	52562327	-	1594	462	12	1493	493
ENST00000457607	DHX30	chr3	47870624	+	ENST00000307076	NT5DC2	chr3	52562327	-	1577	462	12	1493	493
ENST00000457607	DHX30	chr3	47870624	+	ENST00000422318	NT5DC2	chr3	52562327	-	1575	462	12	1493	493
ENST00000457607	DHX30	chr3	47870624	+	ENST00000459839	NT5DC2	chr3	52562327	-	1494	462	12	1493	493

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
ENST00000446256	ENST00000307092	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.011655264	0.9883448
ENST00000446256	ENST00000307076	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.012202701	0.9877973
ENST00000446256	ENST00000422318	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.012049386	0.9879507
ENST00000446256	ENST00000459839	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.011909191	0.98809075
ENST00000445061	ENST00000307092	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.021125292	0.97887474
ENST00000445061	ENST00000307076	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.0216637	0.97833633
ENST00000445061	ENST00000422318	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.02148111	0.97851896
ENST00000445061	ENST00000459839	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.022671765	0.9773283
ENST00000348968	ENST00000307092	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.014298471	0.98570156
ENST00000348968	ENST00000307076	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.014890219	0.9851098
ENST00000348968	ENST00000422318	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.014749388	0.9852506
ENST00000348968	ENST00000459839	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.014784352	0.98521566
ENST00000457607	ENST00000307092	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.036990035	0.9630099
ENST00000457607	ENST00000307076	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.038310204	0.96168983
ENST00000457607	ENST00000422318	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.03800304	0.961997
ENST00000457607	ENST00000459839	DHX30	chr3	47870624	+	NT5DC2	chr3	52562327	-	0.03715058	0.96284944

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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

>22652_22652_1_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000348968_NT5DC2_chr3_52562327_ENST00000307076_length(amino acids)=437AA_BP=94
MCVNPTPGGTISRASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAAC
QLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHSLEFDQAHLYKDVTDAIRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQ
LFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQADKPSFFTDRRKPFRKLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRV
LYFGDHLYSDLADLMLRHGWRTGAIIPELEREIRIINTEQYMHSLTWQQALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNA

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

>22652_22652_2_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000348968_NT5DC2_chr3_52562327_ENST00000307092_length(amino acids)=437AA_BP=94
MCVNPTPGGTISRASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAAC
QLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHSLEFDQAHLYKDVTDAIRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQ
LFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQADKPSFFTDRRKPFRKLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRV
LYFGDHLYSDLADLMLRHGWRTGAIIPELEREIRIINTEQYMHSLTWQQALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNA

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

>22652_22652_3_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000348968_NT5DC2_chr3_52562327_ENST00000422318_length(amino acids)=437AA_BP=94
MCVNPTPGGTISRASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAAC
QLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHSLEFDQAHLYKDVTDAIRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQ
LFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQADKPSFFTDRRKPFRKLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRV
LYFGDHLYSDLADLMLRHGWRTGAIIPELEREIRIINTEQYMHSLTWQQALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNA

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

>22652_22652_4_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000348968_NT5DC2_chr3_52562327_ENST00000459839_length(amino acids)=437AA_BP=94
MCVNPTPGGTISRASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAAC
QLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHSLEFDQAHLYKDVTDAIRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQ
LFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQADKPSFFTDRRKPFRKLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRV
LYFGDHLYSDLADLMLRHGWRTGAIIPELEREIRIINTEQYMHSLTWQQALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNA

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

>22652_22652_5_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000445061_NT5DC2_chr3_52562327_ENST00000307076_length(amino acids)=465AA_BP=122
MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISRASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYVHTNGPKKKKVTLH
IKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHSLEFDQAHLYKDVTDAIRDVHVKGLMYQW
IEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQADKPSFFTDRRKPFRKLDEKGSLQWDRI
TRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIRIINTEQYMHSLTWQQALTGLLERMQTYQ
DAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLLNYRVDFTFYPRRTPLQHEAPLWMDQLCT

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

>22652_22652_6_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000445061_NT5DC2_chr3_52562327_ENST00000307092_length(amino acids)=465AA_BP=122
MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISRASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYVHTNGPKKKKVTLH
IKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHSLEFDQAHLYKDVTDAIRDVHVKGLMYQW
IEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQADKPSFFTDRRKPFRKLDEKGSLQWDRI
TRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIRIINTEQYMHSLTWQQALTGLLERMQTYQ
DAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLLNYRVDFTFYPRRTPLQHEAPLWMDQLCT

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

>22652_22652_7_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000445061_NT5DC2_chr3_52562327_ENST00000422318_length(amino acids)=465AA_BP=122
MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISRASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYVHTNGPKKKKVTLH
IKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHSLEFDQAHLYKDVTDAIRDVHVKGLMYQW
IEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQADKPSFFTDRRKPFRKLDEKGSLQWDRI
TRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIRIINTEQYMHSLTWQQALTGLLERMQTYQ
DAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLLNYRVDFTFYPRRTPLQHEAPLWMDQLCT

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

>22652_22652_8_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000445061_NT5DC2_chr3_52562327_ENST00000459839_length(amino acids)=466AA_BP=122
MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISRASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYVHTNGPKKKKVTLH
IKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHSLEFDQAHLYKDVTDAIRDVHVKGLMYQW
IEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQADKPSFFTDRRKPFRKLDEKGSLQWDRI
TRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIRIINTEQYMHSLTWQQALTGLLERMQTYQ
DAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLLNYRVDFTFYPRRTPLQHEAPLWMDQLCT

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

>22652_22652_9_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000446256_NT5DC2_chr3_52562327_ENST00000307076_length(amino acids)=478AA_BP=135
MARNVQPGLIQKRSGPAQAASVQTSPTPPSTHVCQPYPRRDHLSRLNVNISNMAASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYV
HTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHSLEFDQAHLYKDVTDA
IRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQADKPSFFTDRRKPFR
KLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIRIINTEQYMHSLTWQQ
ALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLLNYRVDFTFYPRRTPL

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

>22652_22652_10_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000446256_NT5DC2_chr3_52562327_ENST00000307092_length(amino acids)=478AA_BP=135
MARNVQPGLIQKRSGPAQAASVQTSPTPPSTHVCQPYPRRDHLSRLNVNISNMAASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYV
HTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHSLEFDQAHLYKDVTDA
IRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQADKPSFFTDRRKPFR
KLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIRIINTEQYMHSLTWQQ
ALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLLNYRVDFTFYPRRTPL

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

>22652_22652_11_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000446256_NT5DC2_chr3_52562327_ENST00000422318_length(amino acids)=478AA_BP=135
MARNVQPGLIQKRSGPAQAASVQTSPTPPSTHVCQPYPRRDHLSRLNVNISNMAASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYV
HTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHSLEFDQAHLYKDVTDA
IRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQADKPSFFTDRRKPFR
KLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIRIINTEQYMHSLTWQQ
ALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLLNYRVDFTFYPRRTPL

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

>22652_22652_12_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000446256_NT5DC2_chr3_52562327_ENST00000459839_length(amino acids)=479AA_BP=135
MARNVQPGLIQKRSGPAQAASVQTSPTPPSTHVCQPYPRRDHLSRLNVNISNMAASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYV
HTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHSLEFDQAHLYKDVTDA
IRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQADKPSFFTDRRKPFR
KLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIRIINTEQYMHSLTWQQ
ALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLLNYRVDFTFYPRRTPL

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

>22652_22652_13_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000457607_NT5DC2_chr3_52562327_ENST00000307076_length(amino acids)=493AA_BP=150
MAAARRLMALAAGISPRLQPLGPRAAGRQGRSRGFSSSCAHPDHTKEAAEAESGMAPGGPGEGDGSLVNASRDLLKEFPQPKNLLNSVIG
RALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHS
LEFDQAHLYKDVTDAIRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQ
ADKPSFFTDRRKPFRKLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIR
IINTEQYMHSLTWQQALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLL

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

>22652_22652_14_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000457607_NT5DC2_chr3_52562327_ENST00000307092_length(amino acids)=493AA_BP=150
MAAARRLMALAAGISPRLQPLGPRAAGRQGRSRGFSSSCAHPDHTKEAAEAESGMAPGGPGEGDGSLVNASRDLLKEFPQPKNLLNSVIG
RALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHS
LEFDQAHLYKDVTDAIRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQ
ADKPSFFTDRRKPFRKLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIR
IINTEQYMHSLTWQQALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLL

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

>22652_22652_15_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000457607_NT5DC2_chr3_52562327_ENST00000422318_length(amino acids)=493AA_BP=150
MAAARRLMALAAGISPRLQPLGPRAAGRQGRSRGFSSSCAHPDHTKEAAEAESGMAPGGPGEGDGSLVNASRDLLKEFPQPKNLLNSVIG
RALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHS
LEFDQAHLYKDVTDAIRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQ
ADKPSFFTDRRKPFRKLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIR
IINTEQYMHSLTWQQALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLL

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

>22652_22652_16_DHX30-NT5DC2_DHX30_chr3_47870624_ENST00000457607_NT5DC2_chr3_52562327_ENST00000459839_length(amino acids)=493AA_BP=150
MAAARRLMALAAGISPRLQPLGPRAAGRQGRSRGFSSSCAHPDHTKEAAEAESGMAPGGPGEGDGSLVNASRDLLKEFPQPKNLLNSVIG
RALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHS
LEFDQAHLYKDVTDAIRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQ
ADKPSFFTDRRKPFRKLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIR
IINTEQYMHSLTWQQALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLL

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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/chr3:47870624/chr3:52562327)
- 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
DHX30 Q7L2E3	.
FUNCTION: RNA-dependent helicase (PubMed:29100085). Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715, PubMed:29100085). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA (PubMed:18063578). Involved in nervous system development and differentiation through its involvement in the up-regulation of a number of genes which are required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD (By similarity). {ECO:0000250\|UniProtKB:Q5BJS0, ECO:0000250\|UniProtKB:Q99PU8, ECO:0000269\|PubMed:18063578, ECO:0000269\|PubMed:25683715, ECO:0000269\|PubMed:29100085}.	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

DHX30

chr3:47870624

chr3:52562327

ENST00000445061

53_121

122.0

1195.0

Domain

Note=DRBM

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000457607

53_121

150.0

1223.0

Domain

Note=DRBM

- 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

DHX30

chr3:47870624

chr3:52562327

ENST00000445061

188_199

122.0

1195.0

Compositional bias

Note=Poly-Glu

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000446256

188_199

83.0

1156.0

Compositional bias

Note=Poly-Glu

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000457607

188_199

150.0

1223.0

Compositional bias

Note=Poly-Glu

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000445061

444_612

122.0

1195.0

Domain

Helicase ATP-binding

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000445061

654_827

122.0

1195.0

Domain

Helicase C-terminal

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000446256

444_612

83.0

1156.0

Domain

Helicase ATP-binding

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000446256

53_121

83.0

1156.0

Domain

Note=DRBM

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000446256

654_827

83.0

1156.0

Domain

Helicase C-terminal

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000457607

444_612

150.0

1223.0

Domain

Helicase ATP-binding

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000457607

654_827

150.0

1223.0

Domain

Helicase C-terminal

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000445061

559_562

122.0

1195.0

Motif

Note=DEAH box

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000446256

559_562

83.0

1156.0

Motif

Note=DEAH box

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000457607

559_562

150.0

1223.0

Motif

Note=DEAH box

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000445061

457_464

122.0

1195.0

Nucleotide binding

ATP

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000446256

457_464

83.0

1156.0

Nucleotide binding

ATP

Hgene

DHX30

chr3:47870624

chr3:52562327

ENST00000457607

457_464

150.0

1223.0

Nucleotide binding

ATP

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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 >>>1041_DHX30_47870624_NT5DC2_52562327_1041_DHX30_47870624_NT5DC2_52562327_ranked_0.pdb	DHX30	47870624	47870624	ENST00000459839	NT5DC2	chr3	52562327	-	MAAARRLMALAAGISPRLQPLGPRAAGRQGRSRGFSSSCAHPDHTKEAAEAESGMAPGGPGEGDGSLVNASRDLLKEFPQPKNLLNSVIG RALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGPSIKQFMDIFSLPEMALLSCVVDYFLGHS LEFDQAHLYKDVTDAIRDVHVKGLMYQWIEQDMEKYILRGDETFAVLSRLVAHGKQLFLITNSPFSFVDKGMRHMVGPDWRQLFDVVIVQ ADKPSFFTDRRKPFRKLDEKGSLQWDRITRLEKGKIYRQGNLFDFLRLTEWRGPRVLYFGDHLYSDLADLMLRHGWRTGAIIPELEREIR IINTEQYMHSLTWQQALTGLLERMQTYQDAESRQVLAAWMKERQELRCITKALFNAQFGSIFRTFHNPTYFSRRLVRFSDLYMASLSCLL	493

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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.

DHX30_pLDDT.png

NT5DC2_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
DHX30
NT5DC2

- 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 DHX30-NT5DC2

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 DHX30-NT5DC2

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