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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:SMG6-RECK

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: SMG6-RECK
	FusionPDB ID: 84126
	FusionGDB2.0 ID: 84126
		Hgene	Tgene
	Gene symbol	SMG6	RECK
	Gene ID	23293	8434
	Gene name	SMG6 nonsense mediated mRNA decay factor	reversion inducing cysteine rich protein with kazal motifs
	Synonyms	C17orf31\|EST1A\|SMG-6\|hSMG5/7a	ST15
	Cytomap	17p13.3	9p13.3
	Type of gene	protein-coding	protein-coding
	Description	telomerase-binding protein EST1AEST1 telomerase component homolog Aever shorter telomeres 1Asmg-6 homolog, nonsense mediated mRNA decay factortelomerase subunit EST1A	reversion-inducing cysteine-rich protein with Kazal motifsmembrane-anchored glycoprotein (metastasis and invasion)suppression of tumorigenicity 15 (reversion-inducing-cysteine-rich protein with kazal motifs)suppression of tumorigenicity 5 (reversion-in
	Modification date	20200320	20200322
	UniProtAcc	.	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000263073, ENST00000354901, ENST00000536871, ENST00000544865, ENST00000573166,	ENST00000479053, ENST00000377966,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	19 X 14 X 6=1596	5 X 6 X 4=120
	# samples	19	5
	** MAII score	log2(19/1596*10)=-3.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/120*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: SMG6 [Title/Abstract] AND RECK [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	SMG6(2139786)-RECK(36107973), # samples:1
Anticipated loss of major functional domain due to fusion event.	SMG6-RECK 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. SMG6-RECK 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. SMG6-RECK 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. SMG6-RECK 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	SMG6	GO:1904354	negative regulation of telomere capping	12676087
Tgene	RECK	GO:1904684	negative regulation of metalloendopeptidase activity	18194466

Fusion gene breakpoints across SMG6 (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 RECK (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	SARC	TCGA-IE-A3OV-01A	SMG6	chr17	2139786	-	RECK	chr9	36107973	+

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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)
ENST00000544865	SMG6	chr17	2139786	-	ENST00000377966	RECK	chr9	36107973	+	6033	3287	511	4626	1371
ENST00000263073	SMG6	chr17	2139786	-	ENST00000377966	RECK	chr9	36107973	+	5666	2920	51	4259	1402
ENST00000354901	SMG6	chr17	2139786	-	ENST00000377966	RECK	chr9	36107973	+	3186	440	232	1779	515
ENST00000536871	SMG6	chr17	2139786	-	ENST00000377966	RECK	chr9	36107973	+	3133	387	242	1726	494

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
ENST00000544865	ENST00000377966	SMG6	chr17	2139786	-	RECK	chr9	36107973	+	0.000155562	0.99984443
ENST00000263073	ENST00000377966	SMG6	chr17	2139786	-	RECK	chr9	36107973	+	9.80E-05	0.999902
ENST00000354901	ENST00000377966	SMG6	chr17	2139786	-	RECK	chr9	36107973	+	0.000164423	0.9998355
ENST00000536871	ENST00000377966	SMG6	chr17	2139786	-	RECK	chr9	36107973	+	0.000163116	0.9998368

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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

>84126_84126_1_SMG6-RECK_SMG6_chr17_2139786_ENST00000263073_RECK_chr9_36107973_ENST00000377966_length(amino acids)=1402AA_BP=956
MAEGLERVRISASELRGILATLAPQAGSRENMKELKEARPRKDNRRPDLEIYKPGLSRLRNKPKIKEPPGSEEFKDEIVNDRDCSAVENG
TQPVKDVCKELNNQEQNGPIDPENNRGQESFPRTAGQEDRSLKIIKRTKKPDLQIYQPGRRLQTVSKESASRVEEEEVLNQVEQLRVEED
ECRGNVAKEEVANKPDRAEIEKSPGGGRVGAAKGEKGKRMGKGEGVRETHDDPARGRPGSAKRYSRSDKRRNRYRTRSTSSAGSNNSAEG
AGLTDNGCRRRRQDRTKERPRLKKQVSVSSTDSLDEDRIDEPDGLGPRRSSERKRHLERNWSGRGEGEQKNSAKEYRGTLRVTFDAEAMN
KESPMVRSARDDMDRGKPDKGLSSGGKGSEKQESKNPKQELRGRGRGILILPAHTTLSVNSAGSPESAPLGPRLLFGSGSKGSRSWGRGG
TTRRLWDPNNPDQKPALKTQTPQLHFLDTDDEVSPTSWGDSRQAQASYYKFQNSDNPYYYPRTPGPASQYPYTGYNPLQYPVGPTNGVYP
GPYYPGYPTPSGQYVCSPLPTSTMSPEEVEQHMRNLQQQELHRLLRVADNQELQLSNLLSRDRISPEGLEKMAQLRAELLQLYERCILLD
IEFSDNQNVDQILWKNAFYQVIEKFRQLVKDPNVENPEQIRNRLLELLDEGSDFFDSLLQKLQVTYKFKLEDYMDGLAIRSKPLRKTVKY
ALISAQRCMICQGDIARYREQASDTANYGKARSWYLKAQHIAPKNGRPYNQLALLAVYTRRKLDAVYYYMRSLAASNPILTAKESLMSLF
EETKRKAEQMEKKQHEEFDLSPDQWRKGKKSTFRHVGDDTTRLEIWIHPSHPRSSQGTESGKDSEQENGLGSLSPSDLNKRFILSFLHAH
GKLFTRIGMETFPAVAEKVLKEFQVLLQHSPSPIGSTRMLQLMTINMFAVHNSQLKGCKLGEASDFIVRQGTLIQVPSSAGEVGCYKICS
CGQSGLLENCMEMHCIDLQKSCIVGGKRKSHGTSFSIDCNVCSCFAGNLVCSTRLCLSEHSSEDDRRTFTGLPCNCADQFVPVCGQNGRT
YPSACIARCVGLQDHQFEFGSCMSKDPCNPNPCQKNQRCIPKPQVCLTTFDKFGCSQYECVPRQLACDQVQDPVCDTDHMEHNNLCTLYQ
RGKSLSYKGPCQPFCRATEPVCGHNGETYSSVCAAYSDRVAVDYYGDCQAVGVLSEHSSVAECASVKCPSLLAAGCKPIIPPGACCPLCA
GMLRVLFDKEKLDTIAKVTNKKPITVLEILQKIRMHVSVPQCDVFGYFSIESEIVILIIPVDHYPKALQIEACNKEAEKIESLINSDSPT

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

>84126_84126_2_SMG6-RECK_SMG6_chr17_2139786_ENST00000354901_RECK_chr9_36107973_ENST00000377966_length(amino acids)=515AA_BP=69
MNKRFILSFLHAHGKLFTRIGMETFPAVAEKVLKEFQVLLQHSPSPIGSTRMLQLMTINMFAVHNSQLKGCKLGEASDFIVRQGTLIQVP
SSAGEVGCYKICSCGQSGLLENCMEMHCIDLQKSCIVGGKRKSHGTSFSIDCNVCSCFAGNLVCSTRLCLSEHSSEDDRRTFTGLPCNCA
DQFVPVCGQNGRTYPSACIARCVGLQDHQFEFGSCMSKDPCNPNPCQKNQRCIPKPQVCLTTFDKFGCSQYECVPRQLACDQVQDPVCDT
DHMEHNNLCTLYQRGKSLSYKGPCQPFCRATEPVCGHNGETYSSVCAAYSDRVAVDYYGDCQAVGVLSEHSSVAECASVKCPSLLAAGCK
PIIPPGACCPLCAGMLRVLFDKEKLDTIAKVTNKKPITVLEILQKIRMHVSVPQCDVFGYFSIESEIVILIIPVDHYPKALQIEACNKEA

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

>84126_84126_3_SMG6-RECK_SMG6_chr17_2139786_ENST00000536871_RECK_chr9_36107973_ENST00000377966_length(amino acids)=494AA_BP=48
METFPAVAEKVLKEFQVLLQHSPSPIGSTRMLQLMTINMFAVHNSQLKGCKLGEASDFIVRQGTLIQVPSSAGEVGCYKICSCGQSGLLE
NCMEMHCIDLQKSCIVGGKRKSHGTSFSIDCNVCSCFAGNLVCSTRLCLSEHSSEDDRRTFTGLPCNCADQFVPVCGQNGRTYPSACIAR
CVGLQDHQFEFGSCMSKDPCNPNPCQKNQRCIPKPQVCLTTFDKFGCSQYECVPRQLACDQVQDPVCDTDHMEHNNLCTLYQRGKSLSYK
GPCQPFCRATEPVCGHNGETYSSVCAAYSDRVAVDYYGDCQAVGVLSEHSSVAECASVKCPSLLAAGCKPIIPPGACCPLCAGMLRVLFD
KEKLDTIAKVTNKKPITVLEILQKIRMHVSVPQCDVFGYFSIESEIVILIIPVDHYPKALQIEACNKEAEKIESLINSDSPTLASHVPLS

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

>84126_84126_4_SMG6-RECK_SMG6_chr17_2139786_ENST00000544865_RECK_chr9_36107973_ENST00000377966_length(amino acids)=1371AA_BP=925
MKELKEARPRKDNRRPDLEIYKPGLSRLRNKPKIKEPPGSEEFKDEIVNDRDCSAVENGTQPVKDVCKELNNQEQNGPIDPENNRGQESF
PRTAGQEDRSLKIIKRTKKPDLQIYQPGRRLQTVSKESASRVEEEEVLNQVEQLRVEEDECRGNVAKEEVANKPDRAEIEKSPGGGRVGA
AKGEKGKRMGKGEGVRETHDDPARGRPGSAKRYSRSDKRRNRYRTRSTSSAGSNNSAEGAGLTDNGCRRRRQDRTKERPRLKKQVSVSST
DSLDEDRIDEPDGLGPRRSSERKRHLERNWSGRGEGEQKNSAKEYRGTLRVTFDAEAMNKESPMVRSARDDMDRGKPDKGLSSGGKGSEK
QESKNPKQELRGRGRGILILPAHTTLSVNSAGSPESAPLGPRLLFGSGSKGSRSWGRGGTTRRLWDPNNPDQKPALKTQTPQLHFLDTDD
EVSPTSWGDSRQAQASYYKFQNSDNPYYYPRTPGPASQYPYTGYNPLQYPVGPTNGVYPGPYYPGYPTPSGQYVCSPLPTSTMSPEEVEQ
HMRNLQQQELHRLLRVADNQELQLSNLLSRDRISPEGLEKMAQLRAELLQLYERCILLDIEFSDNQNVDQILWKNAFYQVIEKFRQLVKD
PNVENPEQIRNRLLELLDEGSDFFDSLLQKLQVTYKFKLEDYMDGLAIRSKPLRKTVKYALISAQRCMICQGDIARYREQASDTANYGKA
RSWYLKAQHIAPKNGRPYNQLALLAVYTRRKLDAVYYYMRSLAASNPILTAKESLMSLFEETKRKAEQMEKKQHEEFDLSPDQWRKGKKS
TFRHVGDDTTRLEIWIHPSHPRSSQGTESGKDSEQENGLGSLSPSDLNKRFILSFLHAHGKLFTRIGMETFPAVAEKVLKEFQVLLQHSP
SPIGSTRMLQLMTINMFAVHNSQLKGCKLGEASDFIVRQGTLIQVPSSAGEVGCYKICSCGQSGLLENCMEMHCIDLQKSCIVGGKRKSH
GTSFSIDCNVCSCFAGNLVCSTRLCLSEHSSEDDRRTFTGLPCNCADQFVPVCGQNGRTYPSACIARCVGLQDHQFEFGSCMSKDPCNPN
PCQKNQRCIPKPQVCLTTFDKFGCSQYECVPRQLACDQVQDPVCDTDHMEHNNLCTLYQRGKSLSYKGPCQPFCRATEPVCGHNGETYSS
VCAAYSDRVAVDYYGDCQAVGVLSEHSSVAECASVKCPSLLAAGCKPIIPPGACCPLCAGMLRVLFDKEKLDTIAKVTNKKPITVLEILQ
KIRMHVSVPQCDVFGYFSIESEIVILIIPVDHYPKALQIEACNKEAEKIESLINSDSPTLASHVPLSALIISQVQVSSSVPSAGVRARPS

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

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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/chr17:2139786/chr9:36107973)
- 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

SMG6

chr17:2139786

chr9:36107973

ENST00000263073

163_193

956.3333333333334

1420.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000263073

567_625

956.3333333333334

1420.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000544865

163_193

925.3333333333334

1389.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000544865

567_625

925.3333333333334

1389.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

RECK

chr17:2139786

chr9:36107973

ENST00000377966

627_673

525.3333333333334

972.0

Domain

Kazal-like 1

Tgene

RECK

chr17:2139786

chr9:36107973

ENST00000377966

698_752

525.3333333333334

972.0

Domain

Kazal-like 2

Tgene

RECK

chr17:2139786

chr9:36107973

ENST00000377966

753_789

525.3333333333334

972.0

Domain

Kazal-like 3

- 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

SMG6

chr17:2139786

chr9:36107973

ENST00000263073

1197_1239

956.3333333333334

1420.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000354901

1197_1239

48.333333333333336

512.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000354901

163_193

48.333333333333336

512.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000354901

567_625

48.333333333333336

512.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000536871

1197_1239

48.333333333333336

512.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000536871

163_193

48.333333333333336

512.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000536871

567_625

48.333333333333336

512.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000544865

1197_1239

925.3333333333334

1389.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000263073

1246_1397

956.3333333333334

1420.0

Domain

Note=PINc

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000354901

1246_1397

48.333333333333336

512.0

Domain

Note=PINc

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000536871

1246_1397

48.333333333333336

512.0

Domain

Note=PINc

Hgene

SMG6

chr17:2139786

chr9:36107973

ENST00000544865

1246_1397

925.3333333333334

1389.0

Domain

Note=PINc

Tgene

RECK

chr17:2139786

chr9:36107973

ENST00000377966

37_338

525.3333333333334

972.0

Region

Note=5 X Knot repeats

Tgene

RECK

chr17:2139786

chr9:36107973

ENST00000377966

104_141

525.3333333333334

972.0

Repeat

Note=Knot 2

Tgene

RECK

chr17:2139786

chr9:36107973

ENST00000377966

151_197

525.3333333333334

972.0

Repeat

Note=Knot 3

Tgene

RECK

chr17:2139786

chr9:36107973

ENST00000377966

216_263

525.3333333333334

972.0

Repeat

Note=Knot 4

Tgene

RECK

chr17:2139786

chr9:36107973

ENST00000377966

292_338

525.3333333333334

972.0

Repeat

Note=Knot 5

Tgene

RECK

chr17:2139786

chr9:36107973

ENST00000377966

37_84

525.3333333333334

972.0

Repeat

Note=Knot 1

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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
SMG6
RECK

- 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
Hgene	SMG6	chr17:2139786	chr9:36107973	ENST00000354901	-	3	12	114_503	48.333333333333336	512.0	telomeric DNA
Hgene	SMG6	chr17:2139786	chr9:36107973	ENST00000536871	-	2	11	114_503	48.333333333333336	512.0	telomeric DNA

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Related Drugs to SMG6-RECK

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 SMG6-RECK

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