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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:C4B-DLK1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: C4B-DLK1
	FusionPDB ID: 11766
	FusionGDB2.0 ID: 11766
		Hgene	Tgene
	Gene symbol	C4B	DLK1
	Gene ID	721	8788
	Gene name	complement C4B (Chido blood group)	delta like non-canonical Notch ligand 1
	Synonyms	C4B1\|C4B12\|C4B2\|C4B3\|C4B5\|C4BD\|C4B_2\|C4F\|CH\|CO4\|CPAMD3	DLK\|DLK-1\|Delta1\|FA1\|PREF1\|Pref-1\|ZOG\|pG2
	Cytomap	6p21.33	14q32.2
	Type of gene	protein-coding	protein-coding
	Description	complement C4-BC3 and PZP-like alpha-2-macroglobulin domain-containing protein 3Chido form of C4basic complement C4complement C4B1acomplement component 4B (Chido blood group)	protein delta homolog 1delta-like 1 homologfetal antigen 1preadipocyte factor 1secredeltin
	Modification date	20200313	20200329
	UniProtAcc	P04003	P80370
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000435363, ENST00000375177, ENST00000411583, ENST00000425700, ENST00000445788, ENST00000449788, ENST00000485543, ENST00000487226, ENST00000488817, ENST00000494210, ENST00000546399, ENST00000548301, ENST00000548530, ENST00000550398,	ENST00000556051, ENST00000331224, ENST00000341267,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	9 X 7 X 6=378	11 X 12 X 3=396
	# samples	8	10
	** MAII score	log2(8/378*10)=-2.24031432933371 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/396*10)=-1.98550043030488 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: C4B [Title/Abstract] AND DLK1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	C4B(31999910)-DLK1(101200985), # samples:1
Anticipated loss of major functional domain due to fusion event.	C4B-DLK1 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. C4B-DLK1 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. C4B-DLK1 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. C4B-DLK1 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	C4B	GO:0032490	detection of molecule of bacterial origin	22333221
Tgene	DLK1	GO:0045746	negative regulation of Notch signaling pathway	25093684

Fusion gene breakpoints across C4B (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 DLK1 (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	ACC	TCGA-OR-A5JT-01A	C4B	chr6	31999910	+	DLK1	chr14	101200985	+

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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)

ENST00000435363

C4B

chr6

31999910

ENST00000341267

DLK1

chr14

101200985

5147

4593

4802

1577

ENST00000435363

C4B

chr6

31999910

ENST00000331224

DLK1

chr14

101200985

5073

4593

4841

1590

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
ENST00000435363	ENST00000341267	C4B	chr6	31999910	+	DLK1	chr14	101200985	+	0.002240185	0.9977598
ENST00000435363	ENST00000331224	C4B	chr6	31999910	+	DLK1	chr14	101200985	+	0.001989123	0.99801093

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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

>11766_11766_1_C4B-DLK1_C4B_chr6_31999910_ENST00000435363_DLK1_chr14_101200985_ENST00000331224_length(amino acids)=1590AA_BP=1508
MDPPAMRLLWGLIWASSFFTLSLQKPRLLLFSPSVVHLGVPLSVGVQLQDVPRGQVVKGSVFLRNPSRNNVPCSPKVDFTLSSERDFALL
SLQVPLKDAKSCGLHQLLRGPEVQLVAHSPWLKDSLSRTTNIQGINLLFSSRRGHLFLQTDQPIYNPGQRVRYRVFALDQKMRPSTDTIT
VMVENSHGLRVRKKEVYMPSSIFQDDFVIPDISEPGTWKISARFSDGLESNSSTQFEVKKYVLPNFEVKITPGKPYILTVPGHLDEMQLD
IQARYIYGKPVQGVAYVRFGLLDEDGKKTFFRGLESQTKLVNGQSHISLSKAEFQDALEKLNMGITDLQGLRLYVAAAIIESPGGEMEEA
ELTSWYFVSSPFSLDLSKTKRHLVPGAPFLLQALVREMSGSPASGIPVKVSATVSSPGSVPEVQDIQQNTDGSGQVSIPIIIPQTISELQ
LSVSAGSPHPAIARLTVAAPPSGGPGFLSIERPDSRPPRVGDTLNLNLRAVGSGATFSHYYYMILSRGQIVFMNREPKRTLTSVSVFVDH
HLAPSFYFVAFYYHGDHPVANSLRVDVQAGACEGKLELSVDGAKQYRNGESVKLHLETDSLALVALGALDTALYAAGSKSHKPLNMGKVF
EAMNSYDLGCGPGGGDSALQVFQAAGLAFSDGDQWTLSRKRLSCPKEKTTRKKRNVNFQKAINEKLGQYASPTAKRCCQDGVTRLPMMRS
CEQRAARVQQPDCREPFLSCCQFAESLRKKSRDKGQAGLQRALEILQEEDLIDEDDIPVRSFFPENWLWRVETVDRFQILTLWLPDSLTT
WEIHGLSLSKTKGLCVATPVQLRVFREFHLHLRLPMSVRRFEQLELRPVLYNYLDKNLTVSVHVSPVEGLCLAGGGGLAQQVLVPAGSAR
PVAFSVVPTAATAVSLKVVARGSFEFPVGDAVSKVLQIEKEGAIHREELVYELNPLDHRGRTLEIPGNSDPNMIPDGDFNSYVRVTASDP
LDTLGSEGALSPGGVASLLRLPRGCGEQTMIYLAPTLAASRYLDKTEQWSTLPPETKDHAVDLIQKGYMRIQQFRKADGSYAAWLSRGSS
TWLTAFVLKVLSLAQEQVGGSPEKLQETSNWLLSQQQADGSFQDLSPVIHRSMQGGLVGNDETVALTAFVTIALHHGLAVFQDEGAEPLK
QRVEASISKASSFLGEKASAGLLGAHAAAITAYALTLTKAPADLRGVAHNNLMAMAQETGDNLYWGSVTGSQSNAVSPTPAPRNPSDPMP
QAPALWIETTAYALLHLLLHEGKAEMADQAAAWLTRQGSFQGGFRSTQDTVIALDALSAYWIASHTTEERGLNVTLSSTGRNGFKSHALQ
LNNRQIRGLEEELQFSLGSKINVKVGGNSKGTLKVLRTYNVLDMKNTTCQDLQIEVTVKGHVEYTMEANEDYEDYEYDELPAKDDPDAPL
QPVTPLQLFEGRRNRRRREAPKVVEEQESRVHYTVCIWRNGKVGLSGMAIADVTLLSGFHALRADLEKGQAICFTILGVLTSLVVLGTVG

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

>11766_11766_2_C4B-DLK1_C4B_chr6_31999910_ENST00000435363_DLK1_chr14_101200985_ENST00000341267_length(amino acids)=1577AA_BP=1508
MDPPAMRLLWGLIWASSFFTLSLQKPRLLLFSPSVVHLGVPLSVGVQLQDVPRGQVVKGSVFLRNPSRNNVPCSPKVDFTLSSERDFALL
SLQVPLKDAKSCGLHQLLRGPEVQLVAHSPWLKDSLSRTTNIQGINLLFSSRRGHLFLQTDQPIYNPGQRVRYRVFALDQKMRPSTDTIT
VMVENSHGLRVRKKEVYMPSSIFQDDFVIPDISEPGTWKISARFSDGLESNSSTQFEVKKYVLPNFEVKITPGKPYILTVPGHLDEMQLD
IQARYIYGKPVQGVAYVRFGLLDEDGKKTFFRGLESQTKLVNGQSHISLSKAEFQDALEKLNMGITDLQGLRLYVAAAIIESPGGEMEEA
ELTSWYFVSSPFSLDLSKTKRHLVPGAPFLLQALVREMSGSPASGIPVKVSATVSSPGSVPEVQDIQQNTDGSGQVSIPIIIPQTISELQ
LSVSAGSPHPAIARLTVAAPPSGGPGFLSIERPDSRPPRVGDTLNLNLRAVGSGATFSHYYYMILSRGQIVFMNREPKRTLTSVSVFVDH
HLAPSFYFVAFYYHGDHPVANSLRVDVQAGACEGKLELSVDGAKQYRNGESVKLHLETDSLALVALGALDTALYAAGSKSHKPLNMGKVF
EAMNSYDLGCGPGGGDSALQVFQAAGLAFSDGDQWTLSRKRLSCPKEKTTRKKRNVNFQKAINEKLGQYASPTAKRCCQDGVTRLPMMRS
CEQRAARVQQPDCREPFLSCCQFAESLRKKSRDKGQAGLQRALEILQEEDLIDEDDIPVRSFFPENWLWRVETVDRFQILTLWLPDSLTT
WEIHGLSLSKTKGLCVATPVQLRVFREFHLHLRLPMSVRRFEQLELRPVLYNYLDKNLTVSVHVSPVEGLCLAGGGGLAQQVLVPAGSAR
PVAFSVVPTAATAVSLKVVARGSFEFPVGDAVSKVLQIEKEGAIHREELVYELNPLDHRGRTLEIPGNSDPNMIPDGDFNSYVRVTASDP
LDTLGSEGALSPGGVASLLRLPRGCGEQTMIYLAPTLAASRYLDKTEQWSTLPPETKDHAVDLIQKGYMRIQQFRKADGSYAAWLSRGSS
TWLTAFVLKVLSLAQEQVGGSPEKLQETSNWLLSQQQADGSFQDLSPVIHRSMQGGLVGNDETVALTAFVTIALHHGLAVFQDEGAEPLK
QRVEASISKASSFLGEKASAGLLGAHAAAITAYALTLTKAPADLRGVAHNNLMAMAQETGDNLYWGSVTGSQSNAVSPTPAPRNPSDPMP
QAPALWIETTAYALLHLLLHEGKAEMADQAAAWLTRQGSFQGGFRSTQDTVIALDALSAYWIASHTTEERGLNVTLSSTGRNGFKSHALQ
LNNRQIRGLEEELQFSLGSKINVKVGGNSKGTLKVLRTYNVLDMKNTTCQDLQIEVTVKGHVEYTMEANEDYEDYEYDELPAKDDPDAPL
QPVTPLQLFEGRRNRRRREAPKVVEEQESRVHYTVCIWRNGKVGLSGMAIADVTLLSGFHALRADLEKARPSASPSWACSPAWWCWALWV

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

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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/chr6:31999910/chr14:101200985)
- 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
C4B P04003	DLK1 P80370
FUNCTION: Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component.	FUNCTION: May have a role in neuroendocrine differentiation.

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

C4B

chr6:31999910

chr14:101200985

ENST00000435363

702_736

1503.0

1745.0

Domain

Anaphylatoxin-like

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000341267

127_168

384.0

Domain

EGF-like 4

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000341267

170_206

384.0

Domain

EGF-like 5

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000341267

208_245

384.0

Domain

EGF-like 6

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000341267

24_55

384.0

Domain

EGF-like 1

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000341267

53_86

384.0

Domain

EGF-like 2

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000341267

88_125

384.0

Domain

EGF-like 3

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000331224

328_383

228.0

311.0

Topological domain

Cytoplasmic

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000341267

24_303

384.0

Topological domain

Extracellular

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000341267

328_383

384.0

Topological domain

Cytoplasmic

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000331224

304_327

228.0

311.0

Transmembrane

Helical

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000341267

304_327

384.0

Transmembrane

Helical

- 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

C4B

chr6:31999910

chr14:101200985

ENST00000375177

1595_1742

1745.0

Domain

NTR

Hgene

C4B

chr6:31999910

chr14:101200985

ENST00000375177

702_736

1745.0

Domain

Anaphylatoxin-like

Hgene

C4B

chr6:31999910

chr14:101200985

ENST00000411583

1595_1742

1745.0

Domain

NTR

Hgene

C4B

chr6:31999910

chr14:101200985

ENST00000411583

702_736

1745.0

Domain

Anaphylatoxin-like

Hgene

C4B

chr6:31999910

chr14:101200985

ENST00000435363

1595_1742

1503.0

1745.0

Domain

NTR

Hgene

C4B

chr6:31999910

chr14:101200985

ENST00000449788

1595_1742

1745.0

Domain

NTR

Hgene

C4B

chr6:31999910

chr14:101200985

ENST00000449788

702_736

1745.0

Domain

Anaphylatoxin-like

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000331224

127_168

228.0

311.0

Domain

EGF-like 4

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000331224

170_206

228.0

311.0

Domain

EGF-like 5

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000331224

208_245

228.0

311.0

Domain

EGF-like 6

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000331224

24_55

228.0

311.0

Domain

EGF-like 1

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000331224

53_86

228.0

311.0

Domain

EGF-like 2

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000331224

88_125

228.0

311.0

Domain

EGF-like 3

Tgene

DLK1

chr6:31999910

chr14:101200985

ENST00000331224

24_303

228.0

311.0

Topological domain

Extracellular

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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
C4B
DLK1

- 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 C4B-DLK1

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 C4B-DLK1

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