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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:BBS4-CSNK1G1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: BBS4-CSNK1G1
	FusionPDB ID: 9093
	FusionGDB2.0 ID: 9093
		Hgene	Tgene
	Gene symbol	BBS4	CSNK1G1
	Gene ID	585	53944
	Gene name	Bardet-Biedl syndrome 4	casein kinase 1 gamma 1
	Synonyms	-	CK1gamma1
	Cytomap	15q24.1	15q22.31
	Type of gene	protein-coding	protein-coding
	Description	Bardet-Biedl syndrome 4 protein	casein kinase I isoform gamma-1
	Modification date	20200313	20200313
	UniProtAcc	Q96RK4	Q9HCP0
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000268057, ENST00000395205, ENST00000539603, ENST00000542334, ENST00000564239,	ENST00000303032, ENST00000303052, ENST00000607537,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	5 X 6 X 3=90	9 X 10 X 8=720
	# samples	5	9
	** MAII score	log2(5/90*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(9/720*10)=-3 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: BBS4 [Title/Abstract] AND CSNK1G1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	BBS4(73028307)-CSNK1G1(64472653), # samples:5
Anticipated loss of major functional domain due to fusion event.	BBS4-CSNK1G1 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. BBS4-CSNK1G1 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. BBS4-CSNK1G1 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. BBS4-CSNK1G1 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
Tgene	CSNK1G1	GO:0018105	peptidyl-serine phosphorylation	25500533

Fusion gene breakpoints across BBS4 (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 CSNK1G1 (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	PRAD	TCGA-M7-A725-01A	BBS4	chr15	73028307	-	CSNK1G1	chr15	64472653	-
ChimerDB4	PRAD	TCGA-M7-A725-01A	BBS4	chr15	73028307	+	CSNK1G1	chr15	64472653	-
ChimerDB4	PRAD	TCGA-M7-A725-01A	BBS4	chr15	73030680	+	CSNK1G1	chr15	64480228	-
ChimerDB4	PRAD	TCGA-M7-A725	BBS4	chr15	73028307	+	CSNK1G1	chr15	64472653	-

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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)
ENST00000542334	BBS4	chr15	73028307	+	ENST00000303052	CSNK1G1	chr15	64472653	-	7819	1243	436	1404	322
ENST00000542334	BBS4	chr15	73028307	+	ENST00000607537	CSNK1G1	chr15	64472653	-	1697	1243	436	1452	338
ENST00000268057	BBS4	chr15	73028307	+	ENST00000303052	CSNK1G1	chr15	64472653	-	7865	1289	41	1450	469
ENST00000268057	BBS4	chr15	73028307	+	ENST00000607537	CSNK1G1	chr15	64472653	-	1743	1289	41	1498	485
ENST00000539603	BBS4	chr15	73028307	+	ENST00000303052	CSNK1G1	chr15	64472653	-	7903	1327	115	1488	457
ENST00000539603	BBS4	chr15	73028307	+	ENST00000607537	CSNK1G1	chr15	64472653	-	1781	1327	115	1536	473
ENST00000395205	BBS4	chr15	73028307	+	ENST00000303052	CSNK1G1	chr15	64472653	-	7848	1272	0	1433	477
ENST00000395205	BBS4	chr15	73028307	+	ENST00000607537	CSNK1G1	chr15	64472653	-	1726	1272	0	1481	493

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
ENST00000542334	ENST00000303052	BBS4	chr15	73028307	+	CSNK1G1	chr15	64472653	-	0.000897734	0.99910223
ENST00000542334	ENST00000607537	BBS4	chr15	73028307	+	CSNK1G1	chr15	64472653	-	0.002184853	0.99781513
ENST00000268057	ENST00000303052	BBS4	chr15	73028307	+	CSNK1G1	chr15	64472653	-	0.000331089	0.99966896
ENST00000268057	ENST00000607537	BBS4	chr15	73028307	+	CSNK1G1	chr15	64472653	-	0.00196018	0.9980399
ENST00000539603	ENST00000303052	BBS4	chr15	73028307	+	CSNK1G1	chr15	64472653	-	0.001086942	0.99891305
ENST00000539603	ENST00000607537	BBS4	chr15	73028307	+	CSNK1G1	chr15	64472653	-	0.00645809	0.99354184
ENST00000395205	ENST00000303052	BBS4	chr15	73028307	+	CSNK1G1	chr15	64472653	-	0.000620151	0.9993799
ENST00000395205	ENST00000607537	BBS4	chr15	73028307	+	CSNK1G1	chr15	64472653	-	0.003459949	0.99654007

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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

>9093_9093_1_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000268057_CSNK1G1_chr15_64472653_ENST00000303052_length(amino acids)=469AA_BP=416
MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELF
QTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLL
EGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESP
PLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRA
YAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAHAEVEVVEE

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

>9093_9093_2_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000268057_CSNK1G1_chr15_64472653_ENST00000607537_length(amino acids)=485AA_BP=416
MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELF
QTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLL
EGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESP
PLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRA
YAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAHAEVEVVEE

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

>9093_9093_3_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000395205_CSNK1G1_chr15_64472653_ENST00000303052_length(amino acids)=477AA_BP=424
MALTVVPSFSVSGVWKRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGN
IQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYI
MLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVV
ACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLE
DIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAH

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

>9093_9093_4_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000395205_CSNK1G1_chr15_64472653_ENST00000607537_length(amino acids)=493AA_BP=424
MALTVVPSFSVSGVWKRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGN
IQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYI
MLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVV
ACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLE
DIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAH

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

>9093_9093_5_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000539603_CSNK1G1_chr15_64472653_ENST00000303052_length(amino acids)=457AA_BP=404
MIWNTRNSTYIFTAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSAD
NLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYK
KAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFG
KKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNP
LVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAHAEVEVVEEAKCCCFFKRKRK

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

>9093_9093_6_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000539603_CSNK1G1_chr15_64472653_ENST00000607537_length(amino acids)=473AA_BP=404
MIWNTRNSTYIFTAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSAD
NLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYK
KAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFG
KKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNP
LVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAHAEVEVVEEAKCIMFHKPWHW

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

>9093_9093_7_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000542334_CSNK1G1_chr15_64472653_ENST00000303052_length(amino acids)=322AA_BP=269
MKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYK
AILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFL
SAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEV

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

>9093_9093_8_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000542334_CSNK1G1_chr15_64472653_ENST00000607537_length(amino acids)=338AA_BP=269
MKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYK
AILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFL
SAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEV

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

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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/chr15:73028307/chr15:64472653)
- 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
BBS4 Q96RK4	CSNK1G1 Q9HCP0
FUNCTION: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. {ECO:0000269\|PubMed:15107855, ECO:0000269\|PubMed:17574030, ECO:0000269\|PubMed:22072986}.	FUNCTION: Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN. {ECO:0000250, ECO:0000269\|PubMed:21680713}.

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

BBS4

chr15:73028307

chr15:64472653

ENST00000268057

1_66

416.0

520.0

Region

Note=Required for localization to centrosomes

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000395205

1_66

424.0

528.0

Region

Note=Required for localization to centrosomes

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000542334

1_66

244.0

348.0

Region

Note=Required for localization to centrosomes

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000268057

101_134

416.0

520.0

Repeat

Note=TPR 2

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000268057

135_168

416.0

520.0

Repeat

Note=TPR 3

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000268057

169_201

416.0

520.0

Repeat

Note=TPR 4

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000268057

203_235

416.0

520.0

Repeat

Note=TPR 5

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000268057

237_269

416.0

520.0

Repeat

Note=TPR 6

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000268057

270_303

416.0

520.0

Repeat

Note=TPR 7

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000268057

304_337

416.0

520.0

Repeat

Note=TPR 8

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000268057

339_371

416.0

520.0

Repeat

Note=TPR 9

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000268057

373_408

416.0

520.0

Repeat

Note=TPR 10

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000268057

67_100

416.0

520.0

Repeat

Note=TPR 1

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000395205

101_134

424.0

528.0

Repeat

Note=TPR 2

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000395205

135_168

424.0

528.0

Repeat

Note=TPR 3

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000395205

169_201

424.0

528.0

Repeat

Note=TPR 4

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000395205

203_235

424.0

528.0

Repeat

Note=TPR 5

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000395205

237_269

424.0

528.0

Repeat

Note=TPR 6

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000395205

270_303

424.0

528.0

Repeat

Note=TPR 7

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000395205

304_337

424.0

528.0

Repeat

Note=TPR 8

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000395205

339_371

424.0

528.0

Repeat

Note=TPR 9

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000395205

373_408

424.0

528.0

Repeat

Note=TPR 10

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000395205

67_100

424.0

528.0

Repeat

Note=TPR 1

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000542334

101_134

244.0

348.0

Repeat

Note=TPR 2

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000542334

135_168

244.0

348.0

Repeat

Note=TPR 3

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000542334

169_201

244.0

348.0

Repeat

Note=TPR 4

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000542334

203_235

244.0

348.0

Repeat

Note=TPR 5

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000542334

67_100

244.0

348.0

Repeat

Note=TPR 1

Tgene

CSNK1G1

chr15:73028307

chr15:64472653

ENST00000303032

44_315

394.0

Domain

Protein kinase

Tgene

CSNK1G1

chr15:73028307

chr15:64472653

ENST00000303032

50_58

394.0

Nucleotide binding

ATP

- 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

BBS4

chr15:73028307

chr15:64472653

ENST00000268057

338_519

416.0

520.0

Region

Note=Required for localization to centrosomes

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000395205

338_519

424.0

528.0

Region

Note=Required for localization to centrosomes

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000542334

338_519

244.0

348.0

Region

Note=Required for localization to centrosomes

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000542334

237_269

244.0

348.0

Repeat

Note=TPR 6

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000542334

270_303

244.0

348.0

Repeat

Note=TPR 7

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000542334

304_337

244.0

348.0

Repeat

Note=TPR 8

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000542334

339_371

244.0

348.0

Repeat

Note=TPR 9

Hgene

BBS4

chr15:73028307

chr15:64472653

ENST00000542334

373_408

244.0

348.0

Repeat

Note=TPR 10

Tgene

CSNK1G1

chr15:73028307

chr15:64472653

ENST00000303052

44_315

369.0

423.0

Domain

Protein kinase

Tgene

CSNK1G1

chr15:73028307

chr15:64472653

ENST00000303052

50_58

369.0

423.0

Nucleotide binding

ATP

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Fusion Protein Structures

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)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1039_BBS4_73028307_CSNK1G1_64472653_1039_BBS4_73028307_CSNK1G1_64472653_ranked_0.pdb	BBS4	73028307	73028307	ENST00000607537	CSNK1G1	chr15	64472653	-	MALTVVPSFSVSGVWKRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGN IQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYI MLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVV ACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLE DIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAH	493

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pLDDT score distribution

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.

BBS4_pLDDT.png

CSNK1G1_pLDDT.png

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

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

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
BBS4
CSNK1G1

- 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	BBS4	chr15:73028307	chr15:64472653	ENST00000542334	+	13	15	101_337	244.0	348.0	PCM1

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Related Drugs to BBS4-CSNK1G1

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 BBS4-CSNK1G1

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