UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY

Home

Download

Statistics

Examples

Help

Contact

level1

	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:ERC1-GPC5

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ERC1-GPC5
	FusionPDB ID: 27263
	FusionGDB2.0 ID: 27263
		Hgene	Tgene
	Gene symbol	ERC1	GPC5
	Gene ID	23085	2262
	Gene name	ELKS/RAB6-interacting/CAST family member 1	glypican 5
	Synonyms	Cast2\|ELKS\|ERC-1\|RAB6IP2	-
	Cytomap	12p13.33	13q31.3
	Type of gene	protein-coding	protein-coding
	Description	ELKS/Rab6-interacting/CAST family member 1RAB6 interacting protein 2	glypican-5bA93M14.1glypican proteoglycan 5
	Modification date	20200313	20200313
	UniProtAcc	Q8IUD2	P78333
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000536573, ENST00000355446, ENST00000360905, ENST00000397203, ENST00000543086, ENST00000546231, ENST00000589028,	ENST00000377067, ENST00000483422,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	32 X 23 X 16=11776	18 X 14 X 8=2016
	# samples	38	20
	** MAII score	log2(38/11776*10)=-4.95370634772607 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(20/2016*10)=-3.33342373372519 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ERC1 [Title/Abstract] AND GPC5 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ERC1(1250953)-GPC5(93518535), # samples:1
Anticipated loss of major functional domain due to fusion event.	ERC1-GPC5 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. ERC1-GPC5 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	ERC1	GO:0007252	I-kappaB phosphorylation	15218148

Fusion gene breakpoints across ERC1 (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 GPC5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Top

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	READ	TCGA-F5-6864-01A	ERC1	chr12	1250953	-	GPC5	chr13	93518535	+

Top

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)
ENST00000543086	ERC1	chr12	1250953	-	ENST00000377067	GPC5	chr13	93518535	+	2880	1924	271	1941	556
ENST00000546231	ERC1	chr12	1250953	-	ENST00000377067	GPC5	chr13	93518535	+	3221	2265	528	2282	584
ENST00000397203	ERC1	chr12	1250953	-	ENST00000377067	GPC5	chr13	93518535	+	3099	2143	406	2160	584
ENST00000360905	ERC1	chr12	1250953	-	ENST00000377067	GPC5	chr13	93518535	+	2874	1918	181	1935	584
ENST00000589028	ERC1	chr12	1250953	-	ENST00000377067	GPC5	chr13	93518535	+	2850	1894	157	1911	584
ENST00000355446	ERC1	chr12	1250953	-	ENST00000377067	GPC5	chr13	93518535	+	2825	1869	132	1886	584

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
ENST00000543086	ENST00000377067	ERC1	chr12	1250953	-	GPC5	chr13	93518535	+	0.001277998	0.998722
ENST00000546231	ENST00000377067	ERC1	chr12	1250953	-	GPC5	chr13	93518535	+	0.00188862	0.99811137
ENST00000397203	ENST00000377067	ERC1	chr12	1250953	-	GPC5	chr13	93518535	+	0.001952964	0.998047
ENST00000360905	ENST00000377067	ERC1	chr12	1250953	-	GPC5	chr13	93518535	+	0.001689828	0.9983102
ENST00000589028	ENST00000377067	ERC1	chr12	1250953	-	GPC5	chr13	93518535	+	0.001534598	0.9984654
ENST00000355446	ENST00000377067	ERC1	chr12	1250953	-	GPC5	chr13	93518535	+	0.001612978	0.998387

Top

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

>27263_27263_1_ERC1-GPC5_ERC1_chr12_1250953_ENST00000355446_GPC5_chr13_93518535_ENST00000377067_length(amino acids)=584AA_BP=
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK

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

>27263_27263_2_ERC1-GPC5_ERC1_chr12_1250953_ENST00000360905_GPC5_chr13_93518535_ENST00000377067_length(amino acids)=584AA_BP=
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK

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

>27263_27263_3_ERC1-GPC5_ERC1_chr12_1250953_ENST00000397203_GPC5_chr13_93518535_ENST00000377067_length(amino acids)=584AA_BP=
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK

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

>27263_27263_4_ERC1-GPC5_ERC1_chr12_1250953_ENST00000543086_GPC5_chr13_93518535_ENST00000377067_length(amino acids)=556AA_BP=
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKIGQVKQELSRK
DTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNKKTKQIQDMAEEKGTQAGEIHDLKDMLDV

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

>27263_27263_5_ERC1-GPC5_ERC1_chr12_1250953_ENST00000546231_GPC5_chr13_93518535_ENST00000377067_length(amino acids)=584AA_BP=
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK

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

>27263_27263_6_ERC1-GPC5_ERC1_chr12_1250953_ENST00000589028_GPC5_chr13_93518535_ENST00000377067_length(amino acids)=584AA_BP=
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK

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

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/chr12:1250953/chr13:93518535)
- 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
ERC1 Q8IUD2	GPC5 P78333
FUNCTION: Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport. {ECO:0000269\|PubMed:15218148}.	FUNCTION: Cell surface proteoglycan that bears heparan sulfate. {ECO:0000250}.

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

- 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

ERC1

chr12:1250953

chr13:93518535

ENST00000360905

1060_1100

579.0

1117.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1250953

chr13:93518535

ENST00000360905

144_988

579.0

1117.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1250953

chr13:93518535

ENST00000397203

1060_1100

579.0

1117.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1250953

chr13:93518535

ENST00000397203

144_988

579.0

1117.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1250953

chr13:93518535

ENST00000543086

1060_1100

551.0

1089.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1250953

chr13:93518535

ENST00000543086

144_988

551.0

1089.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1250953

chr13:93518535

ENST00000589028

1060_1100

579.0

1117.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1250953

chr13:93518535

ENST00000589028

144_988

579.0

1117.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1250953

chr13:93518535

ENST00000360905

1046_1108

579.0

1117.0

Domain

FIP-RBD

Hgene

ERC1

chr12:1250953

chr13:93518535

ENST00000397203

1046_1108

579.0

1117.0

Domain

FIP-RBD

Hgene

ERC1

chr12:1250953

chr13:93518535

ENST00000543086

1046_1108

551.0

1089.0

Domain

FIP-RBD

Hgene

ERC1

chr12:1250953

chr13:93518535

ENST00000589028

1046_1108

579.0

1117.0

Domain

FIP-RBD

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

ERC1

YWHAG, TWF2, RAB6A, RAB6B, KBTBD7, IKBKB, MAP3K7, IKBKG, XIAP, ITSN2, RAD23A, SH3KBP1, CHUK, NFKBIA, CUL3, APP, ATP6V0D1, NCBP1, WDR4, ERC2, MYC, PAN2, CDK19, MAPK4, CDK20, LATS2, STK4, GFOD1, ADPRHL2, SNX2, MED4, EWSR1, SRPK2, OFD1, PCM1, CEP104, CEP162, CEP152, CEP128, CEP135, CEP89, CNTRL, FBF1, NINL, NIN, SCLT1, SASS6, DVL2, SLC16A6, KIF23, MAPRE1, RACGAP1, CHST15, PPP1R21, Actb, Cd2ap, Kif4, Myh9, Ckap5, MACROD1, PCGF1, NANOG, POU5F1, NHLRC2, CDH1, EYA4, TSHB, SPERT, TRIM25, BRCA1, LNX1, EFTUD2, MYO6, AGR2, KIAA1429, FLCN, DNAJC5, GBF1, DYNC1I2, BICD1, BICD2, APEX1, DYRK1A, nsp13, LMBR1L, PLEKHA4, CYLD, DUSP1, RASSF8, nsp16, nsp7, CIT, ANLN, KIF14, TRIM33, nsp13ab, nsp16ab, SEC62, ORF6, MKRN3, ACTR3, AGPS, AMOT, ANAPC2, CYP2C9, DCTN2, ERGIC2, GOLGA1, IMPDH2, KDM1A, KRT18, KRT19, KRT8, NDC80, NEFM, PEX14, PFN1, PXN, SEPT10, SYNE3, TMOD1, NAA40, VPS33A, NUP62, FTL, DES, YWHAQ, SERF2, YWHAB, ING1, CEP112, MFAP4, C15orf59, YWHAH, PIPSL, KRT38, KRT37, ATG16L1, TBC1D32, E, ATRX,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
ERC1
GPC5

- 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 ERC1-GPC5

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to ERC1-GPC5

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
Hgene	ERC1	C0238463	Papillary thyroid carcinoma	1	ORPHANET
Hgene	ERC1	C4749581	Distal monosomy 12p	1	ORPHANET