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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:CAB39-RHBDD1 (FusionGDB2 ID:12223)

Fusion Gene Summary for CAB39-RHBDD1

Fusion gene summary

Fusion gene information	Fusion gene name: CAB39-RHBDD1
	Fusion gene ID: 12223
		Hgene	Tgene
	Gene symbol	CAB39	RHBDD1
	Gene ID	51719	84236
	Gene name	calcium binding protein 39	rhomboid domain containing 1
	Synonyms	CGI-66\|MO25	RHBDL4\|RRP4
	Cytomap	2q37.1	2q36.3
	Type of gene	protein-coding	protein-coding
	Description	calcium-binding protein 39MO25alpha	rhomboid-related protein 4rhomboid domain-containing protein 1rhomboid-like protein 4
	Modification date	20200313	20200313
	UniProtAcc	Q9Y376	.
	Ensembl transtripts involved in fusion gene	ENST00000258418, ENST00000409788, ENST00000410084, ENST00000484398,	ENST00000493526, ENST00000409053, ENST00000392062, ENST00000341329,
Fusion gene scores	* DoF score	7 X 4 X 5=140	8 X 7 X 4=224
	# samples	9	8
	** MAII score	log2(9/140*10)=-0.637429920615292 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/224*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CAB39 [Title/Abstract] AND RHBDD1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CAB39(231624830)-RHBDD1(227860147), # samples:2
Anticipated loss of major functional domain due to fusion event.	CAB39-RHBDD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted 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	CAB39	GO:0010800	positive regulation of peptidyl-threonine phosphorylation	24393035
Hgene	CAB39	GO:0018105	peptidyl-serine phosphorylation	24393035
Hgene	CAB39	GO:0023014	signal transduction by protein phosphorylation	24393035
Hgene	CAB39	GO:0035556	intracellular signal transduction	24393035
Hgene	CAB39	GO:0071902	positive regulation of protein serine/threonine kinase activity	19892943\|24393035

Fusion gene breakpoints across CAB39 (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 RHBDD1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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	SARC	TCGA-DX-A8BX-01A	CAB39	chr2	231624830	-	RHBDD1	chr2	227860147	+
ChimerDB4	SARC	TCGA-DX-A8BX-01A	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+

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Fusion Gene ORF analysis for CAB39-RHBDD1

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-3UTR	ENST00000258418	ENST00000493526	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
5CDS-3UTR	ENST00000409788	ENST00000493526	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
5CDS-3UTR	ENST00000410084	ENST00000493526	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
5CDS-intron	ENST00000258418	ENST00000409053	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
5CDS-intron	ENST00000409788	ENST00000409053	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
5CDS-intron	ENST00000410084	ENST00000409053	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
Frame-shift	ENST00000258418	ENST00000392062	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
Frame-shift	ENST00000409788	ENST00000392062	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
Frame-shift	ENST00000410084	ENST00000392062	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
In-frame	ENST00000258418	ENST00000341329	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
In-frame	ENST00000409788	ENST00000341329	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
In-frame	ENST00000410084	ENST00000341329	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
intron-3CDS	ENST00000484398	ENST00000341329	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
intron-3CDS	ENST00000484398	ENST00000392062	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
intron-3UTR	ENST00000484398	ENST00000493526	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+
intron-intron	ENST00000484398	ENST00000409053	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

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)

ENST00000258418

CAB39

chr2

231624830

ENST00000341329

RHBDD1

chr2

227860147

4328

543

430

143

ENST00000410084

CAB39

chr2

231624830

ENST00000341329

RHBDD1

chr2

227860147

4197

412

738

1100

120

ENST00000409788

CAB39

chr2

231624830

ENST00000341329

RHBDD1

chr2

227860147

4453

668

715

185

176

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
ENST00000258418	ENST00000341329	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+	0.78202206	0.21797797
ENST00000410084	ENST00000341329	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+	0.7958127	0.2041873
ENST00000409788	ENST00000341329	CAB39	chr2	231624830	+	RHBDD1	chr2	227860147	+	0.808517	0.19148298

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Fusion Genomic Features for CAB39-RHBDD1

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
CAB39	chr2	231624830	+	RHBDD1	chr2	227860146	+	1.41E-08	1
CAB39	chr2	231624830	+	RHBDD1	chr2	227860146	+	1.41E-08	1

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CAB39-RHBDD1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:231624830/chr2:227860147)
- 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
CAB39 Q9Y376	.
FUNCTION: Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1. {ECO:0000269\|PubMed:19892943}.	FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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.

- In-frame and 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

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000341329

301_315

285

316.0

Region

VCP/p97-interacting motif (VIM)

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000392062

301_315

285

316.0

Region

VCP/p97-interacting motif (VIM)

- In-frame and 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

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000341329

269_284

285

316.0

Region

Ubiquitin-binding domain (UBD)

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000392062

269_284

285

316.0

Region

Ubiquitin-binding domain (UBD)

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000341329

128_138

285

316.0

Topological domain

Cytoplasmic

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000341329

158_180

285

316.0

Topological domain

Extracellular

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000341329

1_21

285

316.0

Topological domain

Cytoplasmic

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000341329

202_315

285

316.0

Topological domain

Cytoplasmic

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000341329

43_106

285

316.0

Topological domain

Extracellular

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000392062

128_138

285

316.0

Topological domain

Cytoplasmic

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000392062

158_180

285

316.0

Topological domain

Extracellular

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000392062

1_21

285

316.0

Topological domain

Cytoplasmic

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000392062

202_315

285

316.0

Topological domain

Cytoplasmic

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000392062

43_106

285

316.0

Topological domain

Extracellular

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000341329

107_127

285

316.0

Transmembrane

Helical

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000341329

139_157

285

316.0

Transmembrane

Helical

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000341329

181_201

285

316.0

Transmembrane

Helical

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000341329

22_42

285

316.0

Transmembrane

Helical

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000392062

107_127

285

316.0

Transmembrane

Helical

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000392062

139_157

285

316.0

Transmembrane

Helical

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000392062

181_201

285

316.0

Transmembrane

Helical

Tgene

RHBDD1

chr2:231624830

chr2:227860147

ENST00000392062

22_42

285

316.0

Transmembrane

Helical

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Fusion Gene Sequence for CAB39-RHBDD1

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>12223_12223_1_CAB39-RHBDD1_CAB39_chr2_231624830_ENST00000258418_RHBDD1_chr2_227860147_ENST00000341329_length(transcript)=4328nt_BP=543nt
GTGCGCACGTCAAAGCCGGGCTCGGGCCGCAAGCGGGGCGAGGGGTTCGGGGAGCGGCGCGGCCTGGGAGACACAGAGCCTTCAGGCGCC
GGGGCGGGGGCACAGGCGAAGACTAAGGCGGCGCCGGGCCCCACAGCAGCAGCCGCAGCCCAAGCGAGCGCAGCAGCGCGGCGGCAGCCG
CGGGAGCCCCTGGGCAGCCGTCCGCCCGCGCAGCCGCCGCCGCCGCGGGAGCCCGTCGCCGGGAGCAGGAGCGGGCGGAAGACAACGGAG
GGGCCGAGCGTCCGAGCCACTCCGCGGGGACCGAACGAGCAGCCCGAAGCGGCGGCGGCCGAGGACGGGGACAGCGACGACGCGGAGGCA
GAGAAGGGAACGCCCGGCCCAGCCCCGTAGCACAGGCGGAGTGCAGCGGAGGCCCCTGCCGCTGCCGTCATGCCGTTCCCGTTTGGGAAG
TCTCACAAATCTCCAGCAGACATTGTGAAGAATCTGAAGGAGAGCATGGCTGTTCTGGAAAAGCAAGACATTTCTGATAAAAAAGCAGAA
AAGGAAATACCAGAAATAGCCCACCACCCTACGGGTTTCATCTCTCACCAGAAGAAATGAGGAGACAGCGGCTTCACAGATTCGATAGCC
AGTGAGGTGGCATCTTGGGAAGACATGGCCTATTCGTGTAATTATTGCCCATTTGGCTCATTCCCCAAGCCCCTAATTCATTTTAATTCA
TTTTAAACAAAAGCAGAGTACACCGGTATTGCTCCAGATCGCTCACATCACCTGGGACAGTCCCATGGCCCCTATGAGTCAACTCACAGC
TTGCGGGGAGTGGGCCTTCTCCTGGCCTTGTTCTTGCTCATAAACAGGTCACTTCCTCCATGAAGAGACCAGTTTCCACGCTCCCATCTC
TCACTGCTGACTCAGCGATGCCTCTGCCTCGGTCTGCTTTTGAAGACTGTGACCTTCACCAGGAGGTTTTACTTACACCAGTCGGGAAGA
TTAGTCCCTCATTCTGCCTGGAGTGCCCCGTGTTTGACTTGGCAGCGGGTGTGGAGCCATCCCCGCGTCCTCCTGGCGCATTGCCACTGT
GGCTGTCCAGGAACAGGATGTGGCTGCCTTGGCCGAATGTTGTCCTACTCTCCCCAACCCCGGCGCCTCAGCTCCTCAGCTCCTCGGGCC
CCTGCGTCTGGCTGGTGTTTGCAGGGCTTTCGCTCTGCTCTGGTATTGCTCTGCCTTTATAGAAAGTCTTATTGAAGAAGTGTAAGAAAG
ACCTAAGGTGGGGAAGACTCCTACACACACCATTAGTATCAGTGACACCAGCAATGTAGGTTCCCAGCCCCTTCCCAGTGGCAGCTTGTG
TGTCCAGGAGATAGGACATCATTTAACGCATCAGCAAAGTAGCAGCAGATGCCACATACAGAGTAGAGCGAAGGCATTTGGTGGATCGGT
CACTAGAGATCTATCTTGCAGAAAGTATGTTTTTCCTCATAAAAGTGCCTCTTAATTGGCCATTGTACCAGCCACTTGTCCTAGCCAAAT
GTCCAAAACACGCCCTTGGGCCCCGCCACGTTACAATCCACAGATTGTCTGTCTGAGTCGTTTAAGGCATTTCCTGGTGCTTGTGTTCCA
TGAATAAAAGGACAAAGTCAGAAGATCACTGATGTCTTACTGTCAACAGAGATATTTTAAAAGAGAGAAGCAGGAAAAGATCTTCCTTTT
TTGATCTACAACTTATATAGTTTTCTGATTATGCACATAATAGATATGCCTTCCAGATGCATAAGGCAAACATCTGGAAAGAAATATACC
CAAATCTTAGCAGGGGTTATCTTTGGGAGTGGAGTACATGGGATTTTGCTTTCTTCATTTTTATAATTTTATATTACTGTCTTGGAAGAT
GTGTTTATGTGTGTGTGTTACTTTTACAATCAGGAAAACATATTTAATAACATATAGTCAAGAAAACAGACTTAAAAATAAATACTATGT
GTCCATTGAGAAAATTCACAATATAAACAGAAATACAAATAAATACATACACAATTTTAAAGTCACCTGTAGCCCTACCCTTAGAGGTAC
CCAGGGTTAACATTTTGGTGGTATTGTCTTATCAATTTTTCCGTTGATACATTCAGCAAATTTGGAGCACATTGACCATGGAGTTTTGTG
TCCAAATCCAATCTGAATTTACCTGGAAGAGGCCTTGACACCTGCATGGAAATGAGCTAAGAAAACCACTGGAGCCTTGGGAGCTCTTTG
GCCTCCTGGCTGGCCCAGTAATATCTGAGCTCCTTTGGTTAATTTATAACTGATATAAAACTACATCTTCTTTATAATATAAATTGTACC
TGTGAGTCTAGAAGCTTTAAATGTGTTTAAATTAAAATATTCAAGCTAAATGTTACTGCTCTCTCCCAAATTCTGTAAGTTTGACTCCCG
TTACCCCAATTAGAAGTAACTTCTTTGTTTCATGCCACTTTTATAGCATTTGGTAATTCTGCTATAACACATCTTGCCCCTATTATTAAC
TGTGCACAGCTACACAAAGGTGTGCCTTCTACGTGGGAACATGGATTGTGAATGACTCTGTAATGAGGCCTGAGTCTTAGTTATCTTTCC
ACTCACTCCCCGTCTCCCCTTTCCAACCCCAAAGGCTCACGATAGGGGCTCACTAAATGTCAGTGTTTCACCAAAGTATTTTTTCCATTG
TATTAAGAGTCCAGTCACTGTATATGGAAGTATTTTATTTTTTATTTTTTTATATCACTTGAGTCCACTAGTAGTACTTCCTTGCTCTGT
TTGACTTGTCAGATACAAAGACACGGGATTAGATTTTGGGTGGTAAAATTGTGATACGCATGGCTGTTGATGGAGTGGAACATCTTAGTG
ATGTGAGAAAGGTCATTTTAGTTATAAATGTAAACCAATTACTTTAGCACAACAATAAAGATGTTCTGGAAATTATTATAATTATTTTAG
TTAATGGACTTGCCTGTAACAAGTGCTTATGTTTGGAATGTCCATTTTATTTTATTTTCCTCTACAATAAGGAATCCCTAAAGTTATGCC
AACAAACTGGAATTGGATTGAGAAAGACAAAAGCAAGTGAGCAAGTGTATTAGACTAATTATCTCTAGTAGGGAATAAGCACTTAGAGCT
AATTTTTTAATTTGGTTTATTTATTAGTAGCTCCCTGATTGTCTGTTAAGCCCCTGGTTCCCACAGTTTGGTGTGGTCAGTCAACTTAAG
CGACCTTTTAATGCAGAATCTTTACTTGGTTCTGAAGAGGAGGCAGTAGTTAAAATTGCTTCCTCTTAATGACTCTGAATGTATTGCCTG
TGATTCCAAAGTTGTACATAATTGTTCAGACCTCCTCCATCCTTTTAAATTGCCTGCTGCAGTAAATAACTAGTTTGAGTAGAACTAGAT
CCTGTCTATCTATTTGGCACATGTTCTGCTGCCTGGGGAGTAAGCAAGCTAAAGGGATGAGAAAGACCACCTCCCCCTACCCTGGAAATT
GCACTGCAAGGCAGGGCGAGAATGGGGTAGCTGGCAGACCTGGCCTCCTTGTTCCCAGTCTTAGTTTTTCTTGAGAGATTCAGTATTCAG
TAAAGAATAGCATTCAATTAGTCAAAAAATATATATATAACTTCTTCCTTTCCCTTCCCATGAATCATTGCAGTCATTCCCTAAGTTTCT
TCTCTTTTTTTTTCATGGCTGCTAGTATTTTATTTTAGAATCACAGACTCTCAGCTTAGAGAGTCACAGTATCTCAATTATTTGCTCTGT
TCAATACTTAACAATACCTCCTCACTCAATTCTACATAACTCCAGCTTAGTCTTCCAAAATTCACTTTCATGATGCCACTCAGCATCTCA
AATACCTTTCATTGGCTCTCTGCTGCCAAAGGATAAAGGTCAAAGTCATTAGCCTCAACAGTGGGCTTCAACCAGCCTTTGGACCTCAGC
CCCATTTATCCATCACAGAGGCTGGTAACTAGTCTCACTGCTCAGGCTGTGAGTGTTCCTGATCTTGTGACATTCTGTGCTGTGCTTTTA
CATGGAACAGCTCTTTCCTCTCTCTTGGCCCATTCAGATCCTCCTCATCCAGCCCCCATCTGAATCCTGTAACAGACACAACCACATCTA
CACAGTTTCCACATACCACTTGGAATTGCTGGTTATGCTGCAATGAGAGAATGTCTTTGTCTTTAAATTGTAAGCTTCATGAGGGCAGGG
ACCATCTGTTTCTCTGTCTCTCCTCACAGTGCCTTGAGCAGTACGTTGTCTGGAATGTCAGAACCAATAAATACTTGTGGATTGAAACAA

>12223_12223_1_CAB39-RHBDD1_CAB39_chr2_231624830_ENST00000258418_RHBDD1_chr2_227860147_ENST00000341329_length(amino acids)=143AA_BP=
MTAAAGASAALRLCYGAGPGVPFSASASSLSPSSAAAASGCSFGPRGVARTLGPSVVFRPLLLPATGSRGGGGCAGGRLPRGSRGCRRAA

--------------------------------------------------------------
>12223_12223_2_CAB39-RHBDD1_CAB39_chr2_231624830_ENST00000409788_RHBDD1_chr2_227860147_ENST00000341329_length(transcript)=4453nt_BP=668nt
AGTCGGGCGGGCGGGGAAGTGCGGGCCGGGTCAACTGTCACCGGCTGCACCCGGGCTTCAGCGCCTCGCTCCCGCCCCTGGTAAACTTCC
TGTTGTCGGGAGGCAGATACCAGCTTTGTGACCAATTCAGGAAAATGCCTAACTGATTTCTGGTTAGGAATTGGGCGGTCGGAGCGTTCT
GGAGTTCAATGGAACCACCCCAAGCGCAGACTGCGTGCAGGCGCCGTAGTCGGCCCGCACCGGAGGGATTCAAAGGTGAAGCGGGCCCCG
GTCCCCTCCCCCGAGGAGCTTAGGCTCTGGTGTGAGAGATAAGACGAGAACACAAATAACTGCGATACCGGGAAGGAGGTGATAAGTCCT
GTGAAAGAACGACGGAGTGCTAGAACGGCACCCGGAAAAACCGAACCGATCACTTCTGCCTCGCAGAAACCTGGAAGGCTTCCTGGGCGG
GGGATGCTGAGCAGAGTCTTGAAGGCCTGATGGGATTTAGGAGAGGAGGATTGCAGAAGAGGTAGCACAGGCGGAGTGCAGCGGAGGCCC
CTGCCGCTGCCGTCATGCCGTTCCCGTTTGGGAAGTCTCACAAATCTCCAGCAGACATTGTGAAGAATCTGAAGGAGAGCATGGCTGTTC
TGGAAAAGCAAGACATTTCTGATAAAAAAGCAGAAAAGGAAATACCAGAAATAGCCCACCACCCTACGGGTTTCATCTCTCACCAGAAGA
AATGAGGAGACAGCGGCTTCACAGATTCGATAGCCAGTGAGGTGGCATCTTGGGAAGACATGGCCTATTCGTGTAATTATTGCCCATTTG
GCTCATTCCCCAAGCCCCTAATTCATTTTAATTCATTTTAAACAAAAGCAGAGTACACCGGTATTGCTCCAGATCGCTCACATCACCTGG
GACAGTCCCATGGCCCCTATGAGTCAACTCACAGCTTGCGGGGAGTGGGCCTTCTCCTGGCCTTGTTCTTGCTCATAAACAGGTCACTTC
CTCCATGAAGAGACCAGTTTCCACGCTCCCATCTCTCACTGCTGACTCAGCGATGCCTCTGCCTCGGTCTGCTTTTGAAGACTGTGACCT
TCACCAGGAGGTTTTACTTACACCAGTCGGGAAGATTAGTCCCTCATTCTGCCTGGAGTGCCCCGTGTTTGACTTGGCAGCGGGTGTGGA
GCCATCCCCGCGTCCTCCTGGCGCATTGCCACTGTGGCTGTCCAGGAACAGGATGTGGCTGCCTTGGCCGAATGTTGTCCTACTCTCCCC
AACCCCGGCGCCTCAGCTCCTCAGCTCCTCGGGCCCCTGCGTCTGGCTGGTGTTTGCAGGGCTTTCGCTCTGCTCTGGTATTGCTCTGCC
TTTATAGAAAGTCTTATTGAAGAAGTGTAAGAAAGACCTAAGGTGGGGAAGACTCCTACACACACCATTAGTATCAGTGACACCAGCAAT
GTAGGTTCCCAGCCCCTTCCCAGTGGCAGCTTGTGTGTCCAGGAGATAGGACATCATTTAACGCATCAGCAAAGTAGCAGCAGATGCCAC
ATACAGAGTAGAGCGAAGGCATTTGGTGGATCGGTCACTAGAGATCTATCTTGCAGAAAGTATGTTTTTCCTCATAAAAGTGCCTCTTAA
TTGGCCATTGTACCAGCCACTTGTCCTAGCCAAATGTCCAAAACACGCCCTTGGGCCCCGCCACGTTACAATCCACAGATTGTCTGTCTG
AGTCGTTTAAGGCATTTCCTGGTGCTTGTGTTCCATGAATAAAAGGACAAAGTCAGAAGATCACTGATGTCTTACTGTCAACAGAGATAT
TTTAAAAGAGAGAAGCAGGAAAAGATCTTCCTTTTTTGATCTACAACTTATATAGTTTTCTGATTATGCACATAATAGATATGCCTTCCA
GATGCATAAGGCAAACATCTGGAAAGAAATATACCCAAATCTTAGCAGGGGTTATCTTTGGGAGTGGAGTACATGGGATTTTGCTTTCTT
CATTTTTATAATTTTATATTACTGTCTTGGAAGATGTGTTTATGTGTGTGTGTTACTTTTACAATCAGGAAAACATATTTAATAACATAT
AGTCAAGAAAACAGACTTAAAAATAAATACTATGTGTCCATTGAGAAAATTCACAATATAAACAGAAATACAAATAAATACATACACAAT
TTTAAAGTCACCTGTAGCCCTACCCTTAGAGGTACCCAGGGTTAACATTTTGGTGGTATTGTCTTATCAATTTTTCCGTTGATACATTCA
GCAAATTTGGAGCACATTGACCATGGAGTTTTGTGTCCAAATCCAATCTGAATTTACCTGGAAGAGGCCTTGACACCTGCATGGAAATGA
GCTAAGAAAACCACTGGAGCCTTGGGAGCTCTTTGGCCTCCTGGCTGGCCCAGTAATATCTGAGCTCCTTTGGTTAATTTATAACTGATA
TAAAACTACATCTTCTTTATAATATAAATTGTACCTGTGAGTCTAGAAGCTTTAAATGTGTTTAAATTAAAATATTCAAGCTAAATGTTA
CTGCTCTCTCCCAAATTCTGTAAGTTTGACTCCCGTTACCCCAATTAGAAGTAACTTCTTTGTTTCATGCCACTTTTATAGCATTTGGTA
ATTCTGCTATAACACATCTTGCCCCTATTATTAACTGTGCACAGCTACACAAAGGTGTGCCTTCTACGTGGGAACATGGATTGTGAATGA
CTCTGTAATGAGGCCTGAGTCTTAGTTATCTTTCCACTCACTCCCCGTCTCCCCTTTCCAACCCCAAAGGCTCACGATAGGGGCTCACTA
AATGTCAGTGTTTCACCAAAGTATTTTTTCCATTGTATTAAGAGTCCAGTCACTGTATATGGAAGTATTTTATTTTTTATTTTTTTATAT
CACTTGAGTCCACTAGTAGTACTTCCTTGCTCTGTTTGACTTGTCAGATACAAAGACACGGGATTAGATTTTGGGTGGTAAAATTGTGAT
ACGCATGGCTGTTGATGGAGTGGAACATCTTAGTGATGTGAGAAAGGTCATTTTAGTTATAAATGTAAACCAATTACTTTAGCACAACAA
TAAAGATGTTCTGGAAATTATTATAATTATTTTAGTTAATGGACTTGCCTGTAACAAGTGCTTATGTTTGGAATGTCCATTTTATTTTAT
TTTCCTCTACAATAAGGAATCCCTAAAGTTATGCCAACAAACTGGAATTGGATTGAGAAAGACAAAAGCAAGTGAGCAAGTGTATTAGAC
TAATTATCTCTAGTAGGGAATAAGCACTTAGAGCTAATTTTTTAATTTGGTTTATTTATTAGTAGCTCCCTGATTGTCTGTTAAGCCCCT
GGTTCCCACAGTTTGGTGTGGTCAGTCAACTTAAGCGACCTTTTAATGCAGAATCTTTACTTGGTTCTGAAGAGGAGGCAGTAGTTAAAA
TTGCTTCCTCTTAATGACTCTGAATGTATTGCCTGTGATTCCAAAGTTGTACATAATTGTTCAGACCTCCTCCATCCTTTTAAATTGCCT
GCTGCAGTAAATAACTAGTTTGAGTAGAACTAGATCCTGTCTATCTATTTGGCACATGTTCTGCTGCCTGGGGAGTAAGCAAGCTAAAGG
GATGAGAAAGACCACCTCCCCCTACCCTGGAAATTGCACTGCAAGGCAGGGCGAGAATGGGGTAGCTGGCAGACCTGGCCTCCTTGTTCC
CAGTCTTAGTTTTTCTTGAGAGATTCAGTATTCAGTAAAGAATAGCATTCAATTAGTCAAAAAATATATATATAACTTCTTCCTTTCCCT
TCCCATGAATCATTGCAGTCATTCCCTAAGTTTCTTCTCTTTTTTTTTCATGGCTGCTAGTATTTTATTTTAGAATCACAGACTCTCAGC
TTAGAGAGTCACAGTATCTCAATTATTTGCTCTGTTCAATACTTAACAATACCTCCTCACTCAATTCTACATAACTCCAGCTTAGTCTTC
CAAAATTCACTTTCATGATGCCACTCAGCATCTCAAATACCTTTCATTGGCTCTCTGCTGCCAAAGGATAAAGGTCAAAGTCATTAGCCT
CAACAGTGGGCTTCAACCAGCCTTTGGACCTCAGCCCCATTTATCCATCACAGAGGCTGGTAACTAGTCTCACTGCTCAGGCTGTGAGTG
TTCCTGATCTTGTGACATTCTGTGCTGTGCTTTTACATGGAACAGCTCTTTCCTCTCTCTTGGCCCATTCAGATCCTCCTCATCCAGCCC
CCATCTGAATCCTGTAACAGACACAACCACATCTACACAGTTTCCACATACCACTTGGAATTGCTGGTTATGCTGCAATGAGAGAATGTC
TTTGTCTTTAAATTGTAAGCTTCATGAGGGCAGGGACCATCTGTTTCTCTGTCTCTCCTCACAGTGCCTTGAGCAGTACGTTGTCTGGAA

>12223_12223_2_CAB39-RHBDD1_CAB39_chr2_231624830_ENST00000409788_RHBDD1_chr2_227860147_ENST00000341329_length(amino acids)=176AA_BP=1
MVRDETRRVVGYFWYFLFCFFIRNVLLFQNSHALLQILHNVCWRFVRLPKRERHDGSGRGLRCTPPVLPLLQSSSPKSHQAFKTLLSIPR

--------------------------------------------------------------
>12223_12223_3_CAB39-RHBDD1_CAB39_chr2_231624830_ENST00000410084_RHBDD1_chr2_227860147_ENST00000341329_length(transcript)=4197nt_BP=412nt
AGTCGGGCGGGCGGGGAAGTGCGGGCCGGGTCAACTGTCACCGGCTGCACCCGGGCTTCAGCGCCTCGCTCCCGCCCCTGGTAAACTTCC
TGTTGTCGGGAGGCAGATACCAGCTTTGTGACCAATTCAGGAAAATGCCTAACTGATTTCTGGTTAGGAATTGGGCGGTCGGAGCGTTCT
GGAGTTCAATGGAACCACCCCAAGCGCAGACTGCGTGCAGGCGCCGTAGTCGGCCCGCACCGGAGGGATTCAAAGGTAGCACAGGCGGAG
TGCAGCGGAGGCCCCTGCCGCTGCCGTCATGCCGTTCCCGTTTGGGAAGTCTCACAAATCTCCAGCAGACATTGTGAAGAATCTGAAGGA
GAGCATGGCTGTTCTGGAAAAGCAAGACATTTCTGATAAAAAAGCAGAAAAGGAAATACCAGAAATAGCCCACCACCCTACGGGTTTCAT
CTCTCACCAGAAGAAATGAGGAGACAGCGGCTTCACAGATTCGATAGCCAGTGAGGTGGCATCTTGGGAAGACATGGCCTATTCGTGTAA
TTATTGCCCATTTGGCTCATTCCCCAAGCCCCTAATTCATTTTAATTCATTTTAAACAAAAGCAGAGTACACCGGTATTGCTCCAGATCG
CTCACATCACCTGGGACAGTCCCATGGCCCCTATGAGTCAACTCACAGCTTGCGGGGAGTGGGCCTTCTCCTGGCCTTGTTCTTGCTCAT
AAACAGGTCACTTCCTCCATGAAGAGACCAGTTTCCACGCTCCCATCTCTCACTGCTGACTCAGCGATGCCTCTGCCTCGGTCTGCTTTT
GAAGACTGTGACCTTCACCAGGAGGTTTTACTTACACCAGTCGGGAAGATTAGTCCCTCATTCTGCCTGGAGTGCCCCGTGTTTGACTTG
GCAGCGGGTGTGGAGCCATCCCCGCGTCCTCCTGGCGCATTGCCACTGTGGCTGTCCAGGAACAGGATGTGGCTGCCTTGGCCGAATGTT
GTCCTACTCTCCCCAACCCCGGCGCCTCAGCTCCTCAGCTCCTCGGGCCCCTGCGTCTGGCTGGTGTTTGCAGGGCTTTCGCTCTGCTCT
GGTATTGCTCTGCCTTTATAGAAAGTCTTATTGAAGAAGTGTAAGAAAGACCTAAGGTGGGGAAGACTCCTACACACACCATTAGTATCA
GTGACACCAGCAATGTAGGTTCCCAGCCCCTTCCCAGTGGCAGCTTGTGTGTCCAGGAGATAGGACATCATTTAACGCATCAGCAAAGTA
GCAGCAGATGCCACATACAGAGTAGAGCGAAGGCATTTGGTGGATCGGTCACTAGAGATCTATCTTGCAGAAAGTATGTTTTTCCTCATA
AAAGTGCCTCTTAATTGGCCATTGTACCAGCCACTTGTCCTAGCCAAATGTCCAAAACACGCCCTTGGGCCCCGCCACGTTACAATCCAC
AGATTGTCTGTCTGAGTCGTTTAAGGCATTTCCTGGTGCTTGTGTTCCATGAATAAAAGGACAAAGTCAGAAGATCACTGATGTCTTACT
GTCAACAGAGATATTTTAAAAGAGAGAAGCAGGAAAAGATCTTCCTTTTTTGATCTACAACTTATATAGTTTTCTGATTATGCACATAAT
AGATATGCCTTCCAGATGCATAAGGCAAACATCTGGAAAGAAATATACCCAAATCTTAGCAGGGGTTATCTTTGGGAGTGGAGTACATGG
GATTTTGCTTTCTTCATTTTTATAATTTTATATTACTGTCTTGGAAGATGTGTTTATGTGTGTGTGTTACTTTTACAATCAGGAAAACAT
ATTTAATAACATATAGTCAAGAAAACAGACTTAAAAATAAATACTATGTGTCCATTGAGAAAATTCACAATATAAACAGAAATACAAATA
AATACATACACAATTTTAAAGTCACCTGTAGCCCTACCCTTAGAGGTACCCAGGGTTAACATTTTGGTGGTATTGTCTTATCAATTTTTC
CGTTGATACATTCAGCAAATTTGGAGCACATTGACCATGGAGTTTTGTGTCCAAATCCAATCTGAATTTACCTGGAAGAGGCCTTGACAC
CTGCATGGAAATGAGCTAAGAAAACCACTGGAGCCTTGGGAGCTCTTTGGCCTCCTGGCTGGCCCAGTAATATCTGAGCTCCTTTGGTTA
ATTTATAACTGATATAAAACTACATCTTCTTTATAATATAAATTGTACCTGTGAGTCTAGAAGCTTTAAATGTGTTTAAATTAAAATATT
CAAGCTAAATGTTACTGCTCTCTCCCAAATTCTGTAAGTTTGACTCCCGTTACCCCAATTAGAAGTAACTTCTTTGTTTCATGCCACTTT
TATAGCATTTGGTAATTCTGCTATAACACATCTTGCCCCTATTATTAACTGTGCACAGCTACACAAAGGTGTGCCTTCTACGTGGGAACA
TGGATTGTGAATGACTCTGTAATGAGGCCTGAGTCTTAGTTATCTTTCCACTCACTCCCCGTCTCCCCTTTCCAACCCCAAAGGCTCACG
ATAGGGGCTCACTAAATGTCAGTGTTTCACCAAAGTATTTTTTCCATTGTATTAAGAGTCCAGTCACTGTATATGGAAGTATTTTATTTT
TTATTTTTTTATATCACTTGAGTCCACTAGTAGTACTTCCTTGCTCTGTTTGACTTGTCAGATACAAAGACACGGGATTAGATTTTGGGT
GGTAAAATTGTGATACGCATGGCTGTTGATGGAGTGGAACATCTTAGTGATGTGAGAAAGGTCATTTTAGTTATAAATGTAAACCAATTA
CTTTAGCACAACAATAAAGATGTTCTGGAAATTATTATAATTATTTTAGTTAATGGACTTGCCTGTAACAAGTGCTTATGTTTGGAATGT
CCATTTTATTTTATTTTCCTCTACAATAAGGAATCCCTAAAGTTATGCCAACAAACTGGAATTGGATTGAGAAAGACAAAAGCAAGTGAG
CAAGTGTATTAGACTAATTATCTCTAGTAGGGAATAAGCACTTAGAGCTAATTTTTTAATTTGGTTTATTTATTAGTAGCTCCCTGATTG
TCTGTTAAGCCCCTGGTTCCCACAGTTTGGTGTGGTCAGTCAACTTAAGCGACCTTTTAATGCAGAATCTTTACTTGGTTCTGAAGAGGA
GGCAGTAGTTAAAATTGCTTCCTCTTAATGACTCTGAATGTATTGCCTGTGATTCCAAAGTTGTACATAATTGTTCAGACCTCCTCCATC
CTTTTAAATTGCCTGCTGCAGTAAATAACTAGTTTGAGTAGAACTAGATCCTGTCTATCTATTTGGCACATGTTCTGCTGCCTGGGGAGT
AAGCAAGCTAAAGGGATGAGAAAGACCACCTCCCCCTACCCTGGAAATTGCACTGCAAGGCAGGGCGAGAATGGGGTAGCTGGCAGACCT
GGCCTCCTTGTTCCCAGTCTTAGTTTTTCTTGAGAGATTCAGTATTCAGTAAAGAATAGCATTCAATTAGTCAAAAAATATATATATAAC
TTCTTCCTTTCCCTTCCCATGAATCATTGCAGTCATTCCCTAAGTTTCTTCTCTTTTTTTTTCATGGCTGCTAGTATTTTATTTTAGAAT
CACAGACTCTCAGCTTAGAGAGTCACAGTATCTCAATTATTTGCTCTGTTCAATACTTAACAATACCTCCTCACTCAATTCTACATAACT
CCAGCTTAGTCTTCCAAAATTCACTTTCATGATGCCACTCAGCATCTCAAATACCTTTCATTGGCTCTCTGCTGCCAAAGGATAAAGGTC
AAAGTCATTAGCCTCAACAGTGGGCTTCAACCAGCCTTTGGACCTCAGCCCCATTTATCCATCACAGAGGCTGGTAACTAGTCTCACTGC
TCAGGCTGTGAGTGTTCCTGATCTTGTGACATTCTGTGCTGTGCTTTTACATGGAACAGCTCTTTCCTCTCTCTTGGCCCATTCAGATCC
TCCTCATCCAGCCCCCATCTGAATCCTGTAACAGACACAACCACATCTACACAGTTTCCACATACCACTTGGAATTGCTGGTTATGCTGC
AATGAGAGAATGTCTTTGTCTTTAAATTGTAAGCTTCATGAGGGCAGGGACCATCTGTTTCTCTGTCTCTCCTCACAGTGCCTTGAGCAG

>12223_12223_3_CAB39-RHBDD1_CAB39_chr2_231624830_ENST00000410084_RHBDD1_chr2_227860147_ENST00000341329_length(amino acids)=120AA_BP=
MKRPVSTLPSLTADSAMPLPRSAFEDCDLHQEVLLTPVGKISPSFCLECPVFDLAAGVEPSPRPPGALPLWLSRNRMWLPWPNVVLLSPT

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

Top

Fusion Gene PPI Analysis for CAB39-RHBDD1

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 (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs for CAB39-RHBDD1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

Related Diseases for CAB39-RHBDD1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source