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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:SPTBN1-C2orf73 (FusionGDB2 ID:86121)

Fusion Gene Summary for SPTBN1-C2orf73

Fusion gene summary

Fusion gene information	Fusion gene name: SPTBN1-C2orf73
	Fusion gene ID: 86121
		Hgene	Tgene
	Gene symbol	SPTBN1	C2orf73
	Gene ID	6711	129852
	Gene name	spectrin beta, non-erythrocytic 1	chromosome 2 open reading frame 73
	Synonyms	ELF\|HEL102\|SPTB2\|betaSpII	-
	Cytomap	2p16.2	2p16.2
	Type of gene	protein-coding	protein-coding
	Description	spectrin beta chain, non-erythrocytic 1beta-G spectrinbeta-II spectrinbeta-fodrinbeta-spectrin 2beta-spectrin IIbeta-spectrin non-erythrocytic 1embryonic liver beta-fodrinepididymis luminal protein 102fodrin beta chainspectrin beta chain, brain	uncharacterized protein C2orf73
	Modification date	20200329	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000333896, ENST00000356805,	ENST00000491538, ENST00000398634, ENST00000405749,
Fusion gene scores	* DoF score	24 X 20 X 9=4320	1 X 1 X 1=1
	# samples	26	1
	** MAII score	log2(26/4320*10)=-4.05444778402238 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(1/1*10)=3.32192809488736
Context	PubMed: SPTBN1 [Title/Abstract] AND C2orf73 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	SPTBN1(54864940)-C2orf73(54608983), # samples:1
Anticipated loss of major functional domain due to fusion event.

* 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

Fusion gene breakpoints across SPTBN1 (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 C2orf73 (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	STAD	TCGA-HU-A4GH-01A	SPTBN1	chr2	54864940	+	C2orf73	chr2	54608983	+

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Fusion Gene ORF analysis for SPTBN1-C2orf73

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	ENST00000333896	ENST00000491538	SPTBN1	chr2	54864940	+	C2orf73	chr2	54608983	+
5CDS-3UTR	ENST00000356805	ENST00000491538	SPTBN1	chr2	54864940	+	C2orf73	chr2	54608983	+
5CDS-intron	ENST00000333896	ENST00000398634	SPTBN1	chr2	54864940	+	C2orf73	chr2	54608983	+
5CDS-intron	ENST00000356805	ENST00000398634	SPTBN1	chr2	54864940	+	C2orf73	chr2	54608983	+
In-frame	ENST00000333896	ENST00000405749	SPTBN1	chr2	54864940	+	C2orf73	chr2	54608983	+
In-frame	ENST00000356805	ENST00000405749	SPTBN1	chr2	54864940	+	C2orf73	chr2	54608983	+

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)

ENST00000356805

SPTBN1

chr2

54864940

ENST00000405749

C2orf73

chr2

54608983

4427

4139

266

4150

1294

ENST00000333896

SPTBN1

chr2

54864940

ENST00000405749

C2orf73

chr2

54608983

4492

4204

313

4215

1300

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
ENST00000356805	ENST00000405749	SPTBN1	chr2	54864940	+	C2orf73	chr2	54608983	+	0.011304446	0.9886955
ENST00000333896	ENST00000405749	SPTBN1	chr2	54864940	+	C2orf73	chr2	54608983	+	0.011084297	0.9889157

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Fusion Genomic Features for SPTBN1-C2orf73

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)
SPTBN1	chr2	54864940	+	C2orf73	chr2	54608982	+	0.053265978	0.9467341
SPTBN1	chr2	54864940	+	C2orf73	chr2	54608982	+	0.053265978	0.9467341

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 SPTBN1-C2orf73

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:54864940/chr2:54608983)
- 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
.	.
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}.	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

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

173_278

1273

2156.0

Domain

Calponin-homology (CH) 2

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

54_158

1273

2156.0

Domain

Calponin-homology (CH) 1

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

173_278

1286

2365.0

Domain

Calponin-homology (CH) 2

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

54_158

1286

2365.0

Domain

Calponin-homology (CH) 1

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

2_275

1273

2156.0

Region

Note=Actin-binding

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

2_275

1286

2365.0

Region

Note=Actin-binding

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

1063_1166

1273

2156.0

Repeat

Spectrin 8

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

1170_1258

1273

2156.0

Repeat

Spectrin 9

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

303_411

1273

2156.0

Repeat

Spectrin 1

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

423_525

1273

2156.0

Repeat

Spectrin 2

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

530_636

1273

2156.0

Repeat

Spectrin 3

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

639_742

1273

2156.0

Repeat

Spectrin 4

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

745_847

1273

2156.0

Repeat

Spectrin 5

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

850_952

1273

2156.0

Repeat

Spectrin 6

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

957_1060

1273

2156.0

Repeat

Spectrin 7

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

1063_1166

1286

2365.0

Repeat

Spectrin 8

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

1170_1258

1286

2365.0

Repeat

Spectrin 9

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

303_411

1286

2365.0

Repeat

Spectrin 1

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

423_525

1286

2365.0

Repeat

Spectrin 2

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

530_636

1286

2365.0

Repeat

Spectrin 3

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

639_742

1286

2365.0

Repeat

Spectrin 4

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

745_847

1286

2365.0

Repeat

Spectrin 5

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

850_952

1286

2365.0

Repeat

Spectrin 6

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

957_1060

1286

2365.0

Repeat

Spectrin 7

- 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

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

2197_2307

1273

2156.0

Domain

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

2197_2307

1286

2365.0

Domain

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

1276_1376

1273

2156.0

Repeat

Spectrin 10

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

1381_1482

1273

2156.0

Repeat

Spectrin 11

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

1486_1590

1273

2156.0

Repeat

Spectrin 12

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

1592_1696

1273

2156.0

Repeat

Spectrin 13

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

1698_1801

1273

2156.0

Repeat

Spectrin 14

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

1805_1907

1273

2156.0

Repeat

Spectrin 15

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

1914_2014

1273

2156.0

Repeat

Spectrin 16

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000333896

2018_2097

1273

2156.0

Repeat

Spectrin 17

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

1276_1376

1286

2365.0

Repeat

Spectrin 10

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

1381_1482

1286

2365.0

Repeat

Spectrin 11

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

1486_1590

1286

2365.0

Repeat

Spectrin 12

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

1592_1696

1286

2365.0

Repeat

Spectrin 13

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

1698_1801

1286

2365.0

Repeat

Spectrin 14

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

1805_1907

1286

2365.0

Repeat

Spectrin 15

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

1914_2014

1286

2365.0

Repeat

Spectrin 16

Hgene

SPTBN1

chr2:54864940

chr2:54608983

ENST00000356805

2018_2097

1286

2365.0

Repeat

Spectrin 17

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Fusion Gene Sequence for SPTBN1-C2orf73

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.

>86121_86121_1_SPTBN1-C2orf73_SPTBN1_chr2_54864940_ENST00000333896_C2orf73_chr2_54608983_ENST00000405749_length(transcript)=4492nt_BP=4204nt
GGTGTGCGCGCTGCGCCCGCGAGCTCCCGGGCTCGGCAACCGTGGCATGCTTAGGATTGGCCATATTTAAAAGTTCTGAAGTAGAACCTG
CGCCTCCTCTCTGCTTCTCCCTCCTCCTCAGTAATTTATTTCGAGCTTCCAGGCAAGGGCCACGGAAGAAGGGAAAGCAAGAAATTAGAT
GCCTGTGTGGTAACTCCTCGCGGAGCTAAGGTGGACTCTCTTGCAGCCAACTTCCCATCAGATCACCCTGCTGGACTTGCAGACCGGAAT
GGGGCTCGCCTAAGGAGCCGAGCGCTGCGGAGGCTGCTGCGTGTTGGATGGGAGTGGGAGGGGGCTGGAGCGAGATTTCCAGGGCGCAGT
CCTCCGGGGCGTTACGCCGGGCATAATGGAATTGCAGAGGACGTCTAGTATCTCCGGGCCGCTGTCGCCGGCGTACACGGGGCAGGTGCC
TTACAACTACAACCAGCTGGAAGGCAGATTCAAGCAGCTGCAAGATGAGCGTGAAGCCGTGCAGAAGAAGACCTTCACCAAGTGGGTCAA
TTCCCACCTTGCCCGTGTGTCCTGCCGGATCACAGACCTGTACACTGACCTTCGAGATGGACGGATGCTCATCAAGCTGCTGGAGGTCCT
CTCTGGAGAGAGGCTGCCTAAACCCACCAAGGGACGAATGCGCATCCACTGCTTAGAGAATGTGGACAAGGCCCTTCAGTTCCTGAAGGA
GCAGAGAGTCCATCTTGAGAACATGGGGTCCCATGACATCGTGGATGGAAACCACCGGCTGACCCTTGGCCTCATCTGGACCATCATCCT
GCGCTTCCAGATCCAGGATATCAGTGTGGAAACTGAAGACAACAAAGAGAAGAAATCTGCCAAGGATGCATTGCTGTTGTGGTGCCAGAT
GAAGACAGCTGGGTACCCCAATGTCAACATTCACAATTTCACCACTAGCTGGAGGGACGGCATGGCCTTCAATGCACTGATACACAAACA
CCGGCCTGACCTGATAGATTTTGACAAACTAAAGAAATCTAACGCACACTACAACCTGCAGAATGCATTTAATCTGGCAGAACAGCACCT
CGGCCTCACTAAACTGTTGGACCCCGAAGACATCAGCGTGGACCATCCTGATGAGAAGTCCATAATCACTTATGTGGTGACTTATTACCA
CTACTTCTCTAAGATGAAGGCCTTAGCTGTTGAAGGAAAACGAATTGGAAAGGTGCTTGACAATGCTATTGAAACAGAAAAAATGATTGA
AAAGTATGAATCACTTGCCTCTGACCTTCTGGAATGGATTGAACAAACCATCATCATTCTGAACAATCGCAAATTTGCCAATTCACTGGT
CGGGGTTCAACAGCAGCTTCAGGCATTCAACACTTACCGCACTGTGGAGAAACCACCCAAATTTACTGAGAAGGGGAACTTGGAAGTGCT
GCTCTTCACCATTCAGAGCAAGATGAGGGCCAACAACCAGAAGGTCTACATGCCCCGGGAGGGGAAGCTCATCTCTGACATCAACAAGGC
CTGGGAAAGACTGGAAAAAGCGGAACACGAAAGAGAACTGGCTTTGCGGAATGAGCTCATAAGACAGGAGAAACTGGAACAGCTCGCCCG
CAGATTTGATCGCAAGGCAGCTATGAGGGAGACTTGGCTGAGCGAAAACCAGCGTCTGGTGTCTCAGGACAACTTTGGGTTTGACCTTCC
TGCAGTTGAGGCCGCCACAAAAAAGCACGAGGCCATTGAGACAGACATTGCCGCATACGAGGAGCGTGTGCAGGCTGTGGTAGCCGTGGC
CAGGGAGCTCGAGGCCGAGAATTACCACGACATCAAGCGCATCACAGCGAGGAAGGACAATGTCATCCGGCTCTGGGAATACCTACTGGA
ACTGCTCAGGGCCCGGAGACAGCGGCTCGAGATGAACCTGGGGCTGCAGAAGATATTCCAGGAAATGCTCTACATTATGGACTGGATGGA
TGAAATGAAGGTGCTAGTATTGTCTCAAGACTATGGCAAACACTTACTTGGTGTGGAAGACCTGTTACAGAAGCACACCCTGGTTGAAGC
AGACATTGGCATCCAGGCAGAGCGGGTGAGAGGTGTCAATGCCTCCGCCCAGAAGTTCGCAACAGACGGGGAAGGTTACAAGCCCTGTGA
CCCCCAGGTGATCCGAGACCGCGTGGCCCACATGGAGTTCTGTTATCAAGAGCTTTGCCAGCTGGCGGCTGAGCGCAGGGCCCGTCTGGA
AGAGTCCCGCCGCCTCTGGAAGTTCTTCTGGGAGATGGCAGAAGAGGAAGGCTGGATACGGGAGAAGGAGAAGATCCTGTCCTCGGACGA
TTACGGGAAAGACCTGACCAGCGTCATGCGCCTGCTCAGCAAGCACCGGGCGTTCGAGGACGAGATGAGCGGCCGCAGTGGCCACTTTGA
GCAGGCCATCAAGGAAGGCGAAGACATGATCGCGGAGGAGCACTTCGGGTCGGAGAAGATCCGTGAGAGGATCATTTACATCCGGGAGCA
GTGGGCCAACCTAGAGCAGCTCTCGGCCATTCGGAAGAAGCGCCTGGAGGAGGCCTCCCTGCTGCACCAGTTCCAGGCAGATGCTGATGA
CATTGATGCCTGGATGCTGGACATCCTCAAGATTGTCTCCAGCAGCGACGTGGGCCACGATGAGTATTCCACACAGTCTCTGGTCAAGAA
ACACAAGGACGTGGCGGAAGAGATCGCCAATTACAGGCCCACCCTTGACACGCTGCACGAACAAGCCAGCGCCCTCCCCCAGGAGCATGC
CGAGTCTCCAGACGTGAGGGGCAGGCTGTCGGGCATCGAGGAGCGGTATAAGGAGGTGGCAGAGCTGACGCGGCTGCGGAAGCAGGCACT
CCAGGACACTCTGGCCCTGTACAAGATGTTCAGCGAGGCTGATGCCTGTGAGCTCTGGATCGACGAGAAGGAGCAGTGGCTCAACAACAT
GCAGATCCCAGAGAAGCTGGAGGATCTGGAGGTCATCCAGCACAGATTTGAGAGCCTAGAACCAGAAATGAACAACCAGGCTTCCCGGGT
TGCAGTGGTGAACCAGATTGCACGCCAGCTGATGCACAGCGGCCACCCAAGTGAGAAGGAAATCAAAGCCCAGCAGGACAAACTCAACAC
AAGGTGGAGCCAGTTCAGAGAACTGGTTGACAGGAAGAAGGATGCCCTCCTGTCTGCCCTGAGCATCCAGAACTACCACCTCGAGTGCAA
TGAAACCAAATCCTGGATTCGGGAAAAGACCAAGGTCATCGAGTCCACCCAGGACCTGGGCAATGACCTGGCTGGCGTCATGGCCCTGCA
GCGCAAGCTGACCGGCATGGAGCGGGACTTGGTGGCCATTGAGGCAAAGCTGAGTGACCTGCAGAAGGAGGCGGAGAAGCTGGAGTCCGA
GCACCCCGACCAGGCCCAGGCCATCCTGTCTCGGCTGGCCGAGATCAGCGACGTGTGGGAGGAGATGAAGACCACCCTGAAAAACCGAGA
GGCCTCCCTGGGAGAGGCCAGCAAGCTGCAGCAGTTCCTACGGGACTTGGACGACTTCCAGTCCTGGCTCTCTAGGACCCAGACAGCGAT
CGCCTCGGAGGACATGCCAAACACCCTGACCGAGGCTGAGAAGCTGCTCACGCAGCACGAGAACATCAAGAACGAGATCGACAACTACGA
GGAGGACTACCAGAAGATGAGGGACATGGGCGAGATGGTCACCCAGGGGCAGACCGATGCCCAGTACATGTTTCTGCGGCAGCGGCTGCA
GGCCCTGGACACTGGATGGAACGAGCTCCACAAGATGTGGGAGAACAGACAAAATCTCCTATCCCAGTCACATGCCTACCAGCAGTTCCT
CAGAGACACGAAGCAAGCCGAAGCCTTTCTTAACAACCAGGAGTATGTTCTGGCTCACACTGAAATGCCTACCACCTTGGAAGGAGCTGA
AGCAGCAATTAAAAAGCAAGAGGACTTCATGACCACCATGGACGCCAATGAGGAGAAGATCAATGCTGTGGTGGAGACTGGCCGGAGGCT
GGTGAGCGATGGGAACATCAACTCAGATCGCATCCAGGAGAAGGTGGACTCTATTGATGACAGACATAGGAAGAATCGTGAGACAGCCAG
TGAACTTTTGATGAGGTTGAAGGACAACAGGGATCTACAGAAATTCCTGCAAGATTGTCAAGAGATGAAACCTTGAGAAAAGGAGCCAAG
ACTGTAACAGTGGTCCTGTGCCACAGTGCAGGAAGAAAAGGAACAGAGAGATCACGGGCATGTTTTTTTAGGTGGTTTCATGCCATCTTA
TTTTCTCCTTGAAATACATTCACAATGAGGTGACTGGCTCTGTGGGAAGCCTATGGCCATGTTGTAATGACACTCAATCAGCCCAGTGGA

>86121_86121_1_SPTBN1-C2orf73_SPTBN1_chr2_54864940_ENST00000333896_C2orf73_chr2_54608983_ENST00000405749_length(amino acids)=1300AA_BP=
MDGSGRGLERDFQGAVLRGVTPGIMELQRTSSISGPLSPAYTGQVPYNYNQLEGRFKQLQDEREAVQKKTFTKWVNSHLARVSCRITDLY
TDLRDGRMLIKLLEVLSGERLPKPTKGRMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLTLGLIWTIILRFQIQDISVETEDN
KEKKSAKDALLLWCQMKTAGYPNVNIHNFTTSWRDGMAFNALIHKHRPDLIDFDKLKKSNAHYNLQNAFNLAEQHLGLTKLLDPEDISVD
HPDEKSIITYVVTYYHYFSKMKALAVEGKRIGKVLDNAIETEKMIEKYESLASDLLEWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRT
VEKPPKFTEKGNLEVLLFTIQSKMRANNQKVYMPREGKLISDINKAWERLEKAEHERELALRNELIRQEKLEQLARRFDRKAAMRETWLS
ENQRLVSQDNFGFDLPAVEAATKKHEAIETDIAAYEERVQAVVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLEMNLG
LQKIFQEMLYIMDWMDEMKVLVLSQDYGKHLLGVEDLLQKHTLVEADIGIQAERVRGVNASAQKFATDGEGYKPCDPQVIRDRVAHMEFC
YQELCQLAAERRARLEESRRLWKFFWEMAEEEGWIREKEKILSSDDYGKDLTSVMRLLSKHRAFEDEMSGRSGHFEQAIKEGEDMIAEEH
FGSEKIRERIIYIREQWANLEQLSAIRKKRLEEASLLHQFQADADDIDAWMLDILKIVSSSDVGHDEYSTQSLVKKHKDVAEEIANYRPT
LDTLHEQASALPQEHAESPDVRGRLSGIEERYKEVAELTRLRKQALQDTLALYKMFSEADACELWIDEKEQWLNNMQIPEKLEDLEVIQH
RFESLEPEMNNQASRVAVVNQIARQLMHSGHPSEKEIKAQQDKLNTRWSQFRELVDRKKDALLSALSIQNYHLECNETKSWIREKTKVIE
STQDLGNDLAGVMALQRKLTGMERDLVAIEAKLSDLQKEAEKLESEHPDQAQAILSRLAEISDVWEEMKTTLKNREASLGEASKLQQFLR
DLDDFQSWLSRTQTAIASEDMPNTLTEAEKLLTQHENIKNEIDNYEEDYQKMRDMGEMVTQGQTDAQYMFLRQRLQALDTGWNELHKMWE
NRQNLLSQSHAYQQFLRDTKQAEAFLNNQEYVLAHTEMPTTLEGAEAAIKKQEDFMTTMDANEEKINAVVETGRRLVSDGNINSDRIQEK

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>86121_86121_2_SPTBN1-C2orf73_SPTBN1_chr2_54864940_ENST00000356805_C2orf73_chr2_54608983_ENST00000405749_length(transcript)=4427nt_BP=4139nt
GGAATCAGTGCCGCTGTTGCCGTGCAGGCTGCGGATTCCTCCAGTCCCTCCCTCGGCCGCCTCTCCTCCCGGAGCGAGCGCGCAGCCCTG
CGCAGCAGCGCCCACTGGTCCCGTCCTGTGAGCCCCGGCCCCAGCCGCGGACAGACCCGCGGAGTCGCCTCCCGGCCCACCCGCCCGGCC
GCCGAGGAGCGGGAGGAGGACGGGACCCCGGCGCCCCCACCCCATCCCCGGGAGAACTCTAAGAAGGAGCTGATGTGGAGGAGCAGCTGA
GACAGTTCAAGATGACGACCACAGTAGCCACAGACTATGACAACATTGAGATCCAGCAGCAGTACAGTGATGTCAACAACCGCTGGGATG
TCGACGACTGGGACAATGAGAACAGCTCTGCGCGGCTTTTTGAGCGGTCCCGCATCAAGGCTCTGGCAGATGAGCGTGAAGCCGTGCAGA
AGAAGACCTTCACCAAGTGGGTCAATTCCCACCTTGCCCGTGTGTCCTGCCGGATCACAGACCTGTACACTGACCTTCGAGATGGACGGA
TGCTCATCAAGCTGCTGGAGGTCCTCTCTGGAGAGAGGCTGCCTAAACCCACCAAGGGACGAATGCGCATCCACTGCTTAGAGAATGTGG
ACAAGGCCCTTCAGTTCCTGAAGGAGCAGAGAGTCCATCTTGAGAACATGGGGTCCCATGACATCGTGGATGGAAACCACCGGCTGACCC
TTGGCCTCATCTGGACCATCATCCTGCGCTTCCAGATCCAGGATATCAGTGTGGAAACTGAAGACAACAAAGAGAAGAAATCTGCCAAGG
ATGCATTGCTGTTGTGGTGCCAGATGAAGACAGCTGGGTACCCCAATGTCAACATTCACAATTTCACCACTAGCTGGAGGGACGGCATGG
CCTTCAATGCACTGATACACAAACACCGGCCTGACCTGATAGATTTTGACAAACTAAAGAAATCTAACGCACACTACAACCTGCAGAATG
CATTTAATCTGGCAGAACAGCACCTCGGCCTCACTAAACTGTTGGACCCCGAAGACATCAGCGTGGACCATCCTGATGAGAAGTCCATAA
TCACTTATGTGGTGACTTATTACCACTACTTCTCTAAGATGAAGGCCTTAGCTGTTGAAGGAAAACGAATTGGAAAGGTGCTTGACAATG
CTATTGAAACAGAAAAAATGATTGAAAAGTATGAATCACTTGCCTCTGACCTTCTGGAATGGATTGAACAAACCATCATCATTCTGAACA
ATCGCAAATTTGCCAATTCACTGGTCGGGGTTCAACAGCAGCTTCAGGCATTCAACACTTACCGCACTGTGGAGAAACCACCCAAATTTA
CTGAGAAGGGGAACTTGGAAGTGCTGCTCTTCACCATTCAGAGCAAGATGAGGGCCAACAACCAGAAGGTCTACATGCCCCGGGAGGGGA
AGCTCATCTCTGACATCAACAAGGCCTGGGAAAGACTGGAAAAAGCGGAACACGAAAGAGAACTGGCTTTGCGGAATGAGCTCATAAGAC
AGGAGAAACTGGAACAGCTCGCCCGCAGATTTGATCGCAAGGCAGCTATGAGGGAGACTTGGCTGAGCGAAAACCAGCGTCTGGTGTCTC
AGGACAACTTTGGGTTTGACCTTCCTGCAGTTGAGGCCGCCACAAAAAAGCACGAGGCCATTGAGACAGACATTGCCGCATACGAGGAGC
GTGTGCAGGCTGTGGTAGCCGTGGCCAGGGAGCTCGAGGCCGAGAATTACCACGACATCAAGCGCATCACAGCGAGGAAGGACAATGTCA
TCCGGCTCTGGGAATACCTACTGGAACTGCTCAGGGCCCGGAGACAGCGGCTCGAGATGAACCTGGGGCTGCAGAAGATATTCCAGGAAA
TGCTCTACATTATGGACTGGATGGATGAAATGAAGGTGCTAGTATTGTCTCAAGACTATGGCAAACACTTACTTGGTGTGGAAGACCTGT
TACAGAAGCACACCCTGGTTGAAGCAGACATTGGCATCCAGGCAGAGCGGGTGAGAGGTGTCAATGCCTCCGCCCAGAAGTTCGCAACAG
ACGGGGAAGGTTACAAGCCCTGTGACCCCCAGGTGATCCGAGACCGCGTGGCCCACATGGAGTTCTGTTATCAAGAGCTTTGCCAGCTGG
CGGCTGAGCGCAGGGCCCGTCTGGAAGAGTCCCGCCGCCTCTGGAAGTTCTTCTGGGAGATGGCAGAAGAGGAAGGCTGGATACGGGAGA
AGGAGAAGATCCTGTCCTCGGACGATTACGGGAAAGACCTGACCAGCGTCATGCGCCTGCTCAGCAAGCACCGGGCGTTCGAGGACGAGA
TGAGCGGCCGCAGTGGCCACTTTGAGCAGGCCATCAAGGAAGGCGAAGACATGATCGCGGAGGAGCACTTCGGGTCGGAGAAGATCCGTG
AGAGGATCATTTACATCCGGGAGCAGTGGGCCAACCTAGAGCAGCTCTCGGCCATTCGGAAGAAGCGCCTGGAGGAGGCCTCCCTGCTGC
ACCAGTTCCAGGCAGATGCTGATGACATTGATGCCTGGATGCTGGACATCCTCAAGATTGTCTCCAGCAGCGACGTGGGCCACGATGAGT
ATTCCACACAGTCTCTGGTCAAGAAACACAAGGACGTGGCGGAAGAGATCGCCAATTACAGGCCCACCCTTGACACGCTGCACGAACAAG
CCAGCGCCCTCCCCCAGGAGCATGCCGAGTCTCCAGACGTGAGGGGCAGGCTGTCGGGCATCGAGGAGCGGTATAAGGAGGTGGCAGAGC
TGACGCGGCTGCGGAAGCAGGCACTCCAGGACACTCTGGCCCTGTACAAGATGTTCAGCGAGGCTGATGCCTGTGAGCTCTGGATCGACG
AGAAGGAGCAGTGGCTCAACAACATGCAGATCCCAGAGAAGCTGGAGGATCTGGAGGTCATCCAGCACAGATTTGAGAGCCTAGAACCAG
AAATGAACAACCAGGCTTCCCGGGTTGCAGTGGTGAACCAGATTGCACGCCAGCTGATGCACAGCGGCCACCCAAGTGAGAAGGAAATCA
AAGCCCAGCAGGACAAACTCAACACAAGGTGGAGCCAGTTCAGAGAACTGGTTGACAGGAAGAAGGATGCCCTCCTGTCTGCCCTGAGCA
TCCAGAACTACCACCTCGAGTGCAATGAAACCAAATCCTGGATTCGGGAAAAGACCAAGGTCATCGAGTCCACCCAGGACCTGGGCAATG
ACCTGGCTGGCGTCATGGCCCTGCAGCGCAAGCTGACCGGCATGGAGCGGGACTTGGTGGCCATTGAGGCAAAGCTGAGTGACCTGCAGA
AGGAGGCGGAGAAGCTGGAGTCCGAGCACCCCGACCAGGCCCAGGCCATCCTGTCTCGGCTGGCCGAGATCAGCGACGTGTGGGAGGAGA
TGAAGACCACCCTGAAAAACCGAGAGGCCTCCCTGGGAGAGGCCAGCAAGCTGCAGCAGTTCCTACGGGACTTGGACGACTTCCAGTCCT
GGCTCTCTAGGACCCAGACAGCGATCGCCTCGGAGGACATGCCAAACACCCTGACCGAGGCTGAGAAGCTGCTCACGCAGCACGAGAACA
TCAAGAACGAGATCGACAACTACGAGGAGGACTACCAGAAGATGAGGGACATGGGCGAGATGGTCACCCAGGGGCAGACCGATGCCCAGT
ACATGTTTCTGCGGCAGCGGCTGCAGGCCCTGGACACTGGATGGAACGAGCTCCACAAGATGTGGGAGAACAGACAAAATCTCCTATCCC
AGTCACATGCCTACCAGCAGTTCCTCAGAGACACGAAGCAAGCCGAAGCCTTTCTTAACAACCAGGAGTATGTTCTGGCTCACACTGAAA
TGCCTACCACCTTGGAAGGAGCTGAAGCAGCAATTAAAAAGCAAGAGGACTTCATGACCACCATGGACGCCAATGAGGAGAAGATCAATG
CTGTGGTGGAGACTGGCCGGAGGCTGGTGAGCGATGGGAACATCAACTCAGATCGCATCCAGGAGAAGGTGGACTCTATTGATGACAGAC
ATAGGAAGAATCGTGAGACAGCCAGTGAACTTTTGATGAGGTTGAAGGACAACAGGGATCTACAGAAATTCCTGCAAGATTGTCAAGAGA
TGAAACCTTGAGAAAAGGAGCCAAGACTGTAACAGTGGTCCTGTGCCACAGTGCAGGAAGAAAAGGAACAGAGAGATCACGGGCATGTTT
TTTTAGGTGGTTTCATGCCATCTTATTTTCTCCTTGAAATACATTCACAATGAGGTGACTGGCTCTGTGGGAAGCCTATGGCCATGTTGT
AATGACACTCAATCAGCCCAGTGGAGAGGGCCACATGGCAAGGAACTAAGGCCTCCCACCAACAGCCAGCAAAGAACTGAGACCTTCTGC

>86121_86121_2_SPTBN1-C2orf73_SPTBN1_chr2_54864940_ENST00000356805_C2orf73_chr2_54608983_ENST00000405749_length(amino acids)=1294AA_BP=
MRQFKMTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALADEREAVQKKTFTKWVNSHLARVSCRITDLYTDLRDG
RMLIKLLEVLSGERLPKPTKGRMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLTLGLIWTIILRFQIQDISVETEDNKEKKSA
KDALLLWCQMKTAGYPNVNIHNFTTSWRDGMAFNALIHKHRPDLIDFDKLKKSNAHYNLQNAFNLAEQHLGLTKLLDPEDISVDHPDEKS
IITYVVTYYHYFSKMKALAVEGKRIGKVLDNAIETEKMIEKYESLASDLLEWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRTVEKPPK
FTEKGNLEVLLFTIQSKMRANNQKVYMPREGKLISDINKAWERLEKAEHERELALRNELIRQEKLEQLARRFDRKAAMRETWLSENQRLV
SQDNFGFDLPAVEAATKKHEAIETDIAAYEERVQAVVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLEMNLGLQKIFQ
EMLYIMDWMDEMKVLVLSQDYGKHLLGVEDLLQKHTLVEADIGIQAERVRGVNASAQKFATDGEGYKPCDPQVIRDRVAHMEFCYQELCQ
LAAERRARLEESRRLWKFFWEMAEEEGWIREKEKILSSDDYGKDLTSVMRLLSKHRAFEDEMSGRSGHFEQAIKEGEDMIAEEHFGSEKI
RERIIYIREQWANLEQLSAIRKKRLEEASLLHQFQADADDIDAWMLDILKIVSSSDVGHDEYSTQSLVKKHKDVAEEIANYRPTLDTLHE
QASALPQEHAESPDVRGRLSGIEERYKEVAELTRLRKQALQDTLALYKMFSEADACELWIDEKEQWLNNMQIPEKLEDLEVIQHRFESLE
PEMNNQASRVAVVNQIARQLMHSGHPSEKEIKAQQDKLNTRWSQFRELVDRKKDALLSALSIQNYHLECNETKSWIREKTKVIESTQDLG
NDLAGVMALQRKLTGMERDLVAIEAKLSDLQKEAEKLESEHPDQAQAILSRLAEISDVWEEMKTTLKNREASLGEASKLQQFLRDLDDFQ
SWLSRTQTAIASEDMPNTLTEAEKLLTQHENIKNEIDNYEEDYQKMRDMGEMVTQGQTDAQYMFLRQRLQALDTGWNELHKMWENRQNLL
SQSHAYQQFLRDTKQAEAFLNNQEYVLAHTEMPTTLEGAEAAIKKQEDFMTTMDANEEKINAVVETGRRLVSDGNINSDRIQEKVDSIDD

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Top

Fusion Gene PPI Analysis for SPTBN1-C2orf73

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
Hgene	SPTBN1	chr2:54864940	chr2:54608983	ENST00000333896	+	17	31	1563_2093	1273.0	2156.0	ANK2
Hgene	SPTBN1	chr2:54864940	chr2:54608983	ENST00000356805	+	18	36	1563_2093	1286.0	2365.0	ANK2

- 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

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Related Drugs for SPTBN1-C2orf73

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

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Related Diseases for SPTBN1-C2orf73

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source