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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:CREB1-EMC2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: CREB1-EMC2
	FusionPDB ID: 19302
	FusionGDB2.0 ID: 19302
		Hgene	Tgene
	Gene symbol	CREB1	EMC2
	Gene ID	1385	9694
	Gene name	cAMP responsive element binding protein 1	ER membrane protein complex subunit 2
	Synonyms	CREB\|CREB-1	KIAA0103\|TTC35
	Cytomap	2q33.3	8q23.1
	Type of gene	protein-coding	protein-coding
	Description	cyclic AMP-responsive element-binding protein 1active transcription factor CREBcAMP-response element-binding protein-1cyclic adenosine 3',5'-monophosphate response element binding proteincyclic adenosine 3',5'-monophosphate response element-binding pr	ER membrane protein complex subunit 2TPR repeat protein 35tetratricopeptide repeat domain 35tetratricopeptide repeat protein 35
	Modification date	20200315	20200313
	UniProtAcc	P16220	Q15006
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000353267, ENST00000430624, ENST00000432329, ENST00000536726, ENST00000539789, ENST00000374397, ENST00000451164,	ENST00000520294, ENST00000220853,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	8 X 5 X 6=240	2 X 2 X 2=8
	# samples	8	2
	** MAII score	log2(8/240*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(2/8*10)=1.32192809488736
Context (manual curation of fusion genes in FusionPDB)	PubMed: CREB1 [Title/Abstract] AND EMC2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	CREB1(208435045)-EMC2(109462052), # samples:1
Anticipated loss of major functional domain due to fusion event.	CREB1-EMC2 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. CREB1-EMC2 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. CREB1-EMC2 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. CREB1-EMC2 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	CREB1	GO:0006468	protein phosphorylation	8798441
Hgene	CREB1	GO:0010033	response to organic substance	8798441
Hgene	CREB1	GO:0010944	negative regulation of transcription by competitive promoter binding	19861239
Hgene	CREB1	GO:0045944	positive regulation of transcription by RNA polymerase II	1655749\|8798441\|19861239

Fusion gene breakpoints across CREB1 (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 EMC2 (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	STAD	TCGA-BR-A4PE-01A	CREB1	chr2	208435045	+	EMC2	chr8	109462052	+

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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)

ENST00000430624

CREB1

chr2

208435045

ENST00000220853

EMC2

chr8

109462052

1963

795

290

1648

452

ENST00000432329

CREB1

chr2

208435045

ENST00000220853

EMC2

chr8

109462052

1966

798

251

1651

466

ENST00000353267

CREB1

chr2

208435045

ENST00000220853

EMC2

chr8

109462052

1904

736

231

1589

452

ENST00000536726

CREB1

chr2

208435045

ENST00000220853

EMC2

chr8

109462052

1746

578

1431

452

ENST00000539789

CREB1

chr2

208435045

ENST00000220853

EMC2

chr8

109462052

1735

567

140

1420

426

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
ENST00000430624	ENST00000220853	CREB1	chr2	208435045	+	EMC2	chr8	109462052	+	0.001591218	0.99840885
ENST00000432329	ENST00000220853	CREB1	chr2	208435045	+	EMC2	chr8	109462052	+	0.001325167	0.99867487
ENST00000353267	ENST00000220853	CREB1	chr2	208435045	+	EMC2	chr8	109462052	+	0.001438264	0.9985618
ENST00000536726	ENST00000220853	CREB1	chr2	208435045	+	EMC2	chr8	109462052	+	0.001737504	0.99826247
ENST00000539789	ENST00000220853	CREB1	chr2	208435045	+	EMC2	chr8	109462052	+	0.001874406	0.9981256

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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

>19302_19302_1_CREB1-EMC2_CREB1_chr2_208435045_ENST00000353267_EMC2_chr8_109462052_ENST00000220853_length(amino acids)=452AA_BP=169
MTMESGAENQQSGDAAVTEAENQQMTVQAQPQIATLAQVSMPAAHATSSAPTVTLVQLPNGQTVQVHGVIQAAQPSVIQSPQVQTVQIST
IAESEDSQESVDSVTDSQKRREILSRRPSYRKILNDLSSDAPGVPRIEEEKSEEETSAPAITTVTVPTPIYQTSSGQYKMRDKMRKWREE
NSRNSEQIVEVGEELINEYASKLGDDIWIIYEQVMIAALDYGRDDLALFCLQELRRQFPGSHRVKRLTGMRFEAMERYDDAIQLYDRILQ
EDPTNTAARKRKIAIRKAQGKNVEAIRELNEYLEQFVGDQEAWHELAELYINEHDYAKAAFCLEELMMTNPHNHLYCQQYAEVKYTQGGL
ENLELSRKYFAQALKLNNRNMRALFGLYMSASHIASNPKASAKTKKDNMKYASWAASQINRAYQFAGRSKKETKYSLKAVEDMLETLQIT

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

>19302_19302_2_CREB1-EMC2_CREB1_chr2_208435045_ENST00000430624_EMC2_chr8_109462052_ENST00000220853_length(amino acids)=452AA_BP=169
MTMESGAENQQSGDAAVTEAENQQMTVQAQPQIATLAQVSMPAAHATSSAPTVTLVQLPNGQTVQVHGVIQAAQPSVIQSPQVQTVQIST
IAESEDSQESVDSVTDSQKRREILSRRPSYRKILNDLSSDAPGVPRIEEEKSEEETSAPAITTVTVPTPIYQTSSGQYKMRDKMRKWREE
NSRNSEQIVEVGEELINEYASKLGDDIWIIYEQVMIAALDYGRDDLALFCLQELRRQFPGSHRVKRLTGMRFEAMERYDDAIQLYDRILQ
EDPTNTAARKRKIAIRKAQGKNVEAIRELNEYLEQFVGDQEAWHELAELYINEHDYAKAAFCLEELMMTNPHNHLYCQQYAEVKYTQGGL
ENLELSRKYFAQALKLNNRNMRALFGLYMSASHIASNPKASAKTKKDNMKYASWAASQINRAYQFAGRSKKETKYSLKAVEDMLETLQIT

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

>19302_19302_3_CREB1-EMC2_CREB1_chr2_208435045_ENST00000432329_EMC2_chr8_109462052_ENST00000220853_length(amino acids)=466AA_BP=183
MTMESGAENQQSGDAAVTEAENQQMTVQAQPQIATLAQVSMPAAHATSSAPTVTLVQLPNGQTVQVHGVIQAAQPSVIQSPQVQTVQSSC
KDLKRLFSGTQISTIAESEDSQESVDSVTDSQKRREILSRRPSYRKILNDLSSDAPGVPRIEEEKSEEETSAPAITTVTVPTPIYQTSSG
QYKMRDKMRKWREENSRNSEQIVEVGEELINEYASKLGDDIWIIYEQVMIAALDYGRDDLALFCLQELRRQFPGSHRVKRLTGMRFEAME
RYDDAIQLYDRILQEDPTNTAARKRKIAIRKAQGKNVEAIRELNEYLEQFVGDQEAWHELAELYINEHDYAKAAFCLEELMMTNPHNHLY
CQQYAEVKYTQGGLENLELSRKYFAQALKLNNRNMRALFGLYMSASHIASNPKASAKTKKDNMKYASWAASQINRAYQFAGRSKKETKYS

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

>19302_19302_4_CREB1-EMC2_CREB1_chr2_208435045_ENST00000536726_EMC2_chr8_109462052_ENST00000220853_length(amino acids)=452AA_BP=169
MTMESGAENQQSGDAAVTEAENQQMTVQAQPQIATLAQVSMPAAHATSSAPTVTLVQLPNGQTVQVHGVIQAAQPSVIQSPQVQTVQIST
IAESEDSQESVDSVTDSQKRREILSRRPSYRKILNDLSSDAPGVPRIEEEKSEEETSAPAITTVTVPTPIYQTSSGQYKMRDKMRKWREE
NSRNSEQIVEVGEELINEYASKLGDDIWIIYEQVMIAALDYGRDDLALFCLQELRRQFPGSHRVKRLTGMRFEAMERYDDAIQLYDRILQ
EDPTNTAARKRKIAIRKAQGKNVEAIRELNEYLEQFVGDQEAWHELAELYINEHDYAKAAFCLEELMMTNPHNHLYCQQYAEVKYTQGGL
ENLELSRKYFAQALKLNNRNMRALFGLYMSASHIASNPKASAKTKKDNMKYASWAASQINRAYQFAGRSKKETKYSLKAVEDMLETLQIT

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

>19302_19302_5_CREB1-EMC2_CREB1_chr2_208435045_ENST00000539789_EMC2_chr8_109462052_ENST00000220853_length(amino acids)=426AA_BP=143
MPAAHATSSAPTVTLVQLPNGQTVQVHGVIQAAQPSVIQSPQVQTVQSSCKDLKRLFSGTQISTIAESEDSQESVDSVTDSQKRREILSR
RPSYRKILNDLSSDAPGVPRIEEEKSEEETSAPAITTVTVPTPIYQTSSGQYKMRDKMRKWREENSRNSEQIVEVGEELINEYASKLGDD
IWIIYEQVMIAALDYGRDDLALFCLQELRRQFPGSHRVKRLTGMRFEAMERYDDAIQLYDRILQEDPTNTAARKRKIAIRKAQGKNVEAI
RELNEYLEQFVGDQEAWHELAELYINEHDYAKAAFCLEELMMTNPHNHLYCQQYAEVKYTQGGLENLELSRKYFAQALKLNNRNMRALFG

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

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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/chr2:208435045/chr8:109462052)
- 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
CREB1 P16220	EMC2 Q15006
FUNCTION: Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-119 phosphorylation. Involved in different cellular processes including the synchronization of circadian rhythmicity and the differentiation of adipose cells.	FUNCTION: Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:30415835, PubMed:29809151, PubMed:29242231, PubMed:32459176, PubMed:32439656). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:30415835, PubMed:29809151, PubMed:29242231). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:30415835, PubMed:29809151). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29809151, PubMed:29242231). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable). {ECO:0000269\|PubMed:29242231, ECO:0000269\|PubMed:29809151, ECO:0000269\|PubMed:30415835, ECO:0000269\|PubMed:32439656, ECO:0000269\|PubMed:32459176, ECO:0000305}.

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

CREB1

chr2:208435045

chr8:109462052

ENST00000353267

87_146

168.33333333333334

328.0

Domain

KID

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000430624

87_146

168.33333333333334

328.0

Domain

KID

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000432329

87_146

182.33333333333334

342.0

Domain

KID

Tgene

EMC2

chr2:208435045

chr8:109462052

ENST00000220853

155_188

13.333333333333334

298.0

Repeat

TPR 2

Tgene

EMC2

chr2:208435045

chr8:109462052

ENST00000220853

192_225

13.333333333333334

298.0

Repeat

TPR 3

Tgene

EMC2

chr2:208435045

chr8:109462052

ENST00000220853

87_120

13.333333333333334

298.0

Repeat

TPR 1

- 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

CREB1

chr2:208435045

chr8:109462052

ENST00000353267

269_327

168.33333333333334

328.0

Domain

bZIP

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000374397

269_327

231.0

Domain

bZIP

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000374397

87_146

231.0

Domain

KID

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000430624

269_327

168.33333333333334

328.0

Domain

bZIP

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000432329

269_327

182.33333333333334

342.0

Domain

bZIP

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000353267

270_295

168.33333333333334

328.0

Region

Basic motif

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000353267

297_318

168.33333333333334

328.0

Region

Leucine-zipper

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000374397

270_295

231.0

Region

Basic motif

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000374397

297_318

231.0

Region

Leucine-zipper

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000430624

270_295

168.33333333333334

328.0

Region

Basic motif

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000430624

297_318

168.33333333333334

328.0

Region

Leucine-zipper

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000432329

270_295

182.33333333333334

342.0

Region

Basic motif

Hgene

CREB1

chr2:208435045

chr8:109462052

ENST00000432329

297_318

182.33333333333334

342.0

Region

Leucine-zipper

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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
CREB1
EMC2

- 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 CREB1-EMC2

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 CREB1-EMC2

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