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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ERC1-VWF

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ERC1-VWF
FusionPDB ID: 27285
FusionGDB2.0 ID: 27285
HgeneTgene
Gene symbol

ERC1

VWF

Gene ID

23085

7450

Gene nameELKS/RAB6-interacting/CAST family member 1von Willebrand factor
SynonymsCast2|ELKS|ERC-1|RAB6IP2F8VWF|VWD
Cytomap

12p13.33

12p13.31

Type of geneprotein-codingprotein-coding
DescriptionELKS/Rab6-interacting/CAST family member 1RAB6 interacting protein 2von Willebrand factorcoagulation factor VIII VWF
Modification date2020031320200329
UniProtAcc

Q8IUD2

.
Ensembl transtripts involved in fusion geneENST idsENST00000355446, ENST00000360905, 
ENST00000397203, ENST00000543086, 
ENST00000546231, ENST00000589028, 
ENST00000536573, 		ENST00000545906, 
ENST00000572068, ENST00000261405, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score32 X 23 X 16=117764 X 4 X 3=48
# samples 385
** MAII scorelog2(38/11776*10)=-4.95370634772607
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ERC1 [Title/Abstract] AND VWF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ERC1(1372331)-VWF(6085426), # samples:4
Anticipated loss of major functional domain due to fusion event.ERC1-VWF 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-VWF 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-VWF 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.
ERC1-VWF 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneERC1

GO:0007252

I-kappaB phosphorylation

15218148

TgeneVWF

GO:0007155

cell adhesion

10764791

TgeneVWF

GO:0030168

platelet activation

8565074

TgeneVWF

GO:0031589

cell-substrate adhesion

9079671


check buttonFusion 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.
all structure

check buttonFusion gene breakpoints across VWF (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LUADTCGA-05-4415-01AERC1chr12

1372331

-VWFchr12

6085426

-
ChimerDB4LUADTCGA-05-4415-01AERC1chr12

1372331

+VWFchr12

6085426

-
ChimerDB4LUADTCGA-05-4415ERC1chr12

1372331

+VWFchr12

6085426

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000543086ERC1chr121372331+ENST00000261405VWFchr126085426-4102280627139601229
ENST00000546231ERC1chr121372331+ENST00000261405VWFchr126085426-4455315952843131261
ENST00000397203ERC1chr121372331+ENST00000261405VWFchr126085426-4321302540641791257
ENST00000360905ERC1chr121372331+ENST00000261405VWFchr126085426-4096280018139541257
ENST00000589028ERC1chr121372331+ENST00000261405VWFchr126085426-4072277615739301257
ENST00000355446ERC1chr121372331+ENST00000261405VWFchr126085426-4047275113239051257

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000543086ENST00000261405ERC1chr121372331+VWFchr126085426-0.0029070710.99709296
ENST00000546231ENST00000261405ERC1chr121372331+VWFchr126085426-0.0058317520.9941683
ENST00000397203ENST00000261405ERC1chr121372331+VWFchr126085426-0.0024936540.9975063
ENST00000360905ENST00000261405ERC1chr121372331+VWFchr126085426-0.0021801640.9978198
ENST00000589028ENST00000261405ERC1chr121372331+VWFchr126085426-0.0019206980.9980793
ENST00000355446ENST00000261405ERC1chr121372331+VWFchr126085426-0.0020254480.9979746

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Fusion Amino Acid Sequences


check button 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

>27285_27285_1_ERC1-VWF_ERC1_chr12_1372331_ENST00000355446_VWF_chr12_6085426_ENST00000261405_length(amino acids)=1257AA_BP=872
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERQVKDQNKKVANLKHKEQVEKKKSAQM
LEEARRREDNLNDSSQQLQDSLRKKDDRIEELEEALRESVQITAEREMVLAQEESARTNAEKQVCVHRSTIYPVGQFWEEGCDVCTCTDM
EDAVMGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQWASPENPCLINECVRVKEEVFIQQRN
VSCPQLEVPVCPSGFQLSCKTSACCPSCRCERMEACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENN
TGECCGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHKCLAEGGKIMKIPGTCCDTCEEPECND

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

>27285_27285_2_ERC1-VWF_ERC1_chr12_1372331_ENST00000360905_VWF_chr12_6085426_ENST00000261405_length(amino acids)=1257AA_BP=872
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERQVKDQNKKVANLKHKEQVEKKKSAQM
LEEARRREDNLNDSSQQLQDSLRKKDDRIEELEEALRESVQITAEREMVLAQEESARTNAEKQVCVHRSTIYPVGQFWEEGCDVCTCTDM
EDAVMGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQWASPENPCLINECVRVKEEVFIQQRN
VSCPQLEVPVCPSGFQLSCKTSACCPSCRCERMEACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENN
TGECCGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHKCLAEGGKIMKIPGTCCDTCEEPECND

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

>27285_27285_3_ERC1-VWF_ERC1_chr12_1372331_ENST00000397203_VWF_chr12_6085426_ENST00000261405_length(amino acids)=1257AA_BP=872
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERQVKDQNKKVANLKHKEQVEKKKSAQM
LEEARRREDNLNDSSQQLQDSLRKKDDRIEELEEALRESVQITAEREMVLAQEESARTNAEKQVCVHRSTIYPVGQFWEEGCDVCTCTDM
EDAVMGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQWASPENPCLINECVRVKEEVFIQQRN
VSCPQLEVPVCPSGFQLSCKTSACCPSCRCERMEACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENN
TGECCGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHKCLAEGGKIMKIPGTCCDTCEEPECND

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

>27285_27285_4_ERC1-VWF_ERC1_chr12_1372331_ENST00000543086_VWF_chr12_6085426_ENST00000261405_length(amino acids)=1229AA_BP=844
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKIGQVKQELSRK
DTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNKKTKQIQDMAEEKGTQAGEIHDLKDMLDV
KERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIERLKEQRDRDEREKQEEIDNYKKDLKDLK
EKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKAHEAALEARASPEMSDRIQHLEREITRYK
DESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERQVKDQNKKVANLKHKEQVEKKKSAQMLEEARRREDNLNDSSQQLQDSLRKKDDR
IEELEEALRESVQITAEREMVLAQEESARTNAEKQVCVHRSTIYPVGQFWEEGCDVCTCTDMEDAVMGLRVAQCSQKPCEDSCRSGFTYV
LHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQWASPENPCLINECVRVKEEVFIQQRNVSCPQLEVPVCPSGFQLSCKTSACCPSC
RCERMEACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENNTGECCGRCLPTACTIQLRGGQIMTLKRD
ETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHKCLAEGGKIMKIPGTCCDTCEEPECNDITARLQYVKVGSCKSEVEVDIHYCQGKC

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

>27285_27285_5_ERC1-VWF_ERC1_chr12_1372331_ENST00000546231_VWF_chr12_6085426_ENST00000261405_length(amino acids)=1261AA_BP=876
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELESLTSRQVKDQNKKVANLKHKEQVEKKK
SAQMLEEARRREDNLNDSSQQLQDSLRKKDDRIEELEEALRESVQITAEREMVLAQEESARTNAEKQVCVHRSTIYPVGQFWEEGCDVCT
CTDMEDAVMGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQWASPENPCLINECVRVKEEVFI
QQRNVSCPQLEVPVCPSGFQLSCKTSACCPSCRCERMEACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYK
EENNTGECCGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHKCLAEGGKIMKIPGTCCDTCEEP
ECNDITARLQYVKVGSCKSEVEVDIHYCQGKCASKAMYSIDINDVQDQCSCCSPTRTEPMQVALHCTNGSVVYHEVLNAMECKCSPRKCS

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

>27285_27285_6_ERC1-VWF_ERC1_chr12_1372331_ENST00000589028_VWF_chr12_6085426_ENST00000261405_length(amino acids)=1257AA_BP=872
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERQVKDQNKKVANLKHKEQVEKKKSAQM
LEEARRREDNLNDSSQQLQDSLRKKDDRIEELEEALRESVQITAEREMVLAQEESARTNAEKQVCVHRSTIYPVGQFWEEGCDVCTCTDM
EDAVMGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQWASPENPCLINECVRVKEEVFIQQRN
VSCPQLEVPVCPSGFQLSCKTSACCPSCRCERMEACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENN
TGECCGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHKCLAEGGKIMKIPGTCCDTCEEPECND

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

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:1372331/chr12:6085426)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ERC1

Q8IUD2

.
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: 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.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneVWFchr12:1372331chr12:6085426ENST0000026140541522429_24952429.02814.0DomainVWFC 2
TgeneVWFchr12:1372331chr12:6085426ENST0000026140541522580_26452429.02814.0DomainVWFC 3
TgeneVWFchr12:1372331chr12:6085426ENST0000026140541522724_28122429.02814.0DomainCTCK
TgeneVWFchr12:1372331chr12:6085426ENST0000026140541522507_25092429.02814.0MotifNote=Cell attachment site

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneERC1chr12:1372331chr12:6085426ENST00000360905+14191060_1100873.01117.0Coiled coilOntology_term=ECO:0000255
HgeneERC1chr12:1372331chr12:6085426ENST00000360905+1419144_988873.01117.0Coiled coilOntology_term=ECO:0000255
HgeneERC1chr12:1372331chr12:6085426ENST00000397203+14191060_1100873.01117.0Coiled coilOntology_term=ECO:0000255
HgeneERC1chr12:1372331chr12:6085426ENST00000397203+1419144_988873.01117.0Coiled coilOntology_term=ECO:0000255
HgeneERC1chr12:1372331chr12:6085426ENST00000543086+13181060_1100845.01089.0Coiled coilOntology_term=ECO:0000255
HgeneERC1chr12:1372331chr12:6085426ENST00000543086+1318144_988845.01089.0Coiled coilOntology_term=ECO:0000255
HgeneERC1chr12:1372331chr12:6085426ENST00000589028+13181060_1100873.01117.0Coiled coilOntology_term=ECO:0000255
HgeneERC1chr12:1372331chr12:6085426ENST00000589028+1318144_988873.01117.0Coiled coilOntology_term=ECO:0000255
HgeneERC1chr12:1372331chr12:6085426ENST00000360905+14191046_1108873.01117.0DomainFIP-RBD
HgeneERC1chr12:1372331chr12:6085426ENST00000397203+14191046_1108873.01117.0DomainFIP-RBD
HgeneERC1chr12:1372331chr12:6085426ENST00000543086+13181046_1108845.01089.0DomainFIP-RBD
HgeneERC1chr12:1372331chr12:6085426ENST00000589028+13181046_1108873.01117.0DomainFIP-RBD
TgeneVWFchr12:1372331chr12:6085426ENST0000026140541521146_11962429.02814.0DomainNote=TIL 4
TgeneVWFchr12:1372331chr12:6085426ENST0000026140541521277_14532429.02814.0DomainVWFA 1%3B binding site for platelet glycoprotein Ib
TgeneVWFchr12:1372331chr12:6085426ENST0000026140541521498_16652429.02814.0DomainVWFA 2
TgeneVWFchr12:1372331chr12:6085426ENST0000026140541521691_18712429.02814.0DomainVWFA 3%3B main binding site for collagens type I and III
TgeneVWFchr12:1372331chr12:6085426ENST0000026140541521949_21532429.02814.0DomainVWFD 4
TgeneVWFchr12:1372331chr12:6085426ENST0000026140541522255_23282429.02814.0DomainVWFC 1
TgeneVWFchr12:1372331chr12:6085426ENST000002614054152295_3482429.02814.0DomainNote=TIL 1
TgeneVWFchr12:1372331chr12:6085426ENST00000261405415234_2402429.02814.0DomainVWFD 1
TgeneVWFchr12:1372331chr12:6085426ENST000002614054152387_5982429.02814.0DomainVWFD 2
TgeneVWFchr12:1372331chr12:6085426ENST000002614054152652_7072429.02814.0DomainNote=TIL 2
TgeneVWFchr12:1372331chr12:6085426ENST000002614054152776_8272429.02814.0DomainNote=TIL 3
TgeneVWFchr12:1372331chr12:6085426ENST000002614054152866_10742429.02814.0DomainVWFD 3
TgeneVWFchr12:1372331chr12:6085426ENST0000026140541522216_22612429.02814.0RegionNote=E2
TgeneVWFchr12:1372331chr12:6085426ENST000002614054152764_7872429.02814.0RegionNote=Amino-terminal
TgeneVWFchr12:1372331chr12:6085426ENST000002614054152788_8332429.02814.0RegionNote=E1
TgeneVWFchr12:1372331chr12:6085426ENST000002614054152826_8532429.02814.0RegionNote=CX


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Fusion Protein Structures

check button 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)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)


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pLDDT score distribution

check button 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.
ERC1_pLDDT.png
all structure
all structure
VWF_pLDDT.png
all structure
all structure

check button 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


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors
ERC1YWHAG, 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,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ERC1all structure
VWF


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to ERC1-VWF


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

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Related Diseases to ERC1-VWF


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneERC1C0238463Papillary thyroid carcinoma1ORPHANET
HgeneERC1C4749581Distal monosomy 12p1ORPHANET