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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:SERPINA1-TTR (FusionGDB2 ID:80163)

Fusion Gene Summary for SERPINA1-TTR

Fusion gene summary

Fusion gene information	Fusion gene name: SERPINA1-TTR
	Fusion gene ID: 80163
		Hgene	Tgene
	Gene symbol	SERPINA1	TTR
	Gene ID	5265	7276
	Gene name	serpin family A member 1	transthyretin
	Synonyms	A1A\|A1AT\|AAT\|PI\|PI1\|PRO2275\|alpha1AT\|nNIF	ATTR\|CTS\|CTS1\|HEL111\|HsT2651\|PALB\|TBPA
	Cytomap	14q32.13	18q12.1
	Type of gene	protein-coding	protein-coding
	Description	alpha-1-antitrypsinalpha-1 antitrypsinalpha-1 protease inhibitoralpha-1-antiproteinasealpha-1-antitrypsin nullalpha-1-antitrypsin short transcript variant 1C4alpha-1-antitrypsin short transcript variant 1C5epididymis secretory sperm binding protein	transthyretinepididymis luminal protein 111prealbumin, amyloidosis type Ithyroxine-binding prealbumin
	Modification date	20200327	20200327
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000440909, ENST00000448921, ENST00000437397, ENST00000355814, ENST00000393087, ENST00000393088, ENST00000404814, ENST00000449399, ENST00000402629, ENST00000555289,	ENST00000237014,
Fusion gene scores	* DoF score	28 X 24 X 6=4032	6 X 6 X 3=108
	# samples	28	7
	** MAII score	log2(28/4032*10)=-3.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(7/108*10)=-0.625604485218502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: SERPINA1 [Title/Abstract] AND TTR [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	SERPINA1(94845802)-TTR(29172933), # samples:1
Anticipated loss of major functional domain due to fusion event.	SERPINA1-TTR seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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

Fusion gene breakpoints across SERPINA1 (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 TTR (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	PAAD	TCGA-3A-A9IO	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+

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Fusion Gene ORF analysis for SERPINA1-TTR

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
In-frame	ENST00000440909	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+
In-frame	ENST00000448921	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+
In-frame	ENST00000437397	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+
Frame-shift	ENST00000355814	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+
Frame-shift	ENST00000393087	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+
Frame-shift	ENST00000393088	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+
Frame-shift	ENST00000404814	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+
Frame-shift	ENST00000449399	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+
intron-3CDS	ENST00000402629	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+
intron-3CDS	ENST00000555289	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+

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)
ENST00000440909	SERPINA1	chr14	94845802	-	ENST00000237014	TTR	chr18	29172933	+	1886	1250	185	1549	454
ENST00000448921	SERPINA1	chr14	94845802	-	ENST00000237014	TTR	chr18	29172933	+	2274	1638	405	1937	510
ENST00000437397	SERPINA1	chr14	94845802	-	ENST00000237014	TTR	chr18	29172933	+	2082	1446	285	1745	486

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
ENST00000440909	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+	0.0036169	0.9963831
ENST00000448921	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+	0.004385092	0.9956149
ENST00000437397	ENST00000237014	SERPINA1	chr14	94845802	-	TTR	chr18	29172933	+	0.004468017	0.9955319

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Fusion Genomic Features for SERPINA1-TTR

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)

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 SERPINA1-TTR

Go to
FGviewer for the breakpoints of chr14:94845802-chr18:29172933
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	.
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

TTR

chr14:94845802

chr18:29172933

ENST00000237014

135_139

148.0

Region

Note=Thyroid hormone binding

- 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

SERPINA1

chr14:94845802

chr18:29172933

ENST00000355814

368_392

355.0

419.0

Region

Note=RCL

Hgene

SERPINA1

chr14:94845802

chr18:29172933

ENST00000393087

368_392

355.0

419.0

Region

Note=RCL

Hgene

SERPINA1

chr14:94845802

chr18:29172933

ENST00000393088

368_392

355.0

419.0

Region

Note=RCL

Hgene

SERPINA1

chr14:94845802

chr18:29172933

ENST00000402629

368_392

360.0

Region

Note=RCL

Hgene

SERPINA1

chr14:94845802

chr18:29172933

ENST00000404814

368_392

355.0

419.0

Region

Note=RCL

Hgene

SERPINA1

chr14:94845802

chr18:29172933

ENST00000437397

368_392

355.0

419.0

Region

Note=RCL

Hgene

SERPINA1

chr14:94845802

chr18:29172933

ENST00000440909

368_392

355.0

419.0

Region

Note=RCL

Hgene

SERPINA1

chr14:94845802

chr18:29172933

ENST00000448921

368_392

355.0

419.0

Region

Note=RCL

Hgene

SERPINA1

chr14:94845802

chr18:29172933

ENST00000449399

368_392

355.0

419.0

Region

Note=RCL

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Fusion Gene Sequence for SERPINA1-TTR

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.

>In-frame_ENST00000440909_ENST00000237014_TCGA-3A-A9IO_SERPINA1_chr14_94845802_-_TTR_chr18_29172933_length(transcript)=1886nt_BP=1250nt
TCAGAGTCCTGAGCTGAACCAAGAAGGAGGAGGGGGTCGGGCCTCCGAGGAAGGCCTAGCCGCTGCTGCTGCCAGGAATTCCAGGTTGGA
GGGGCGGCAACCTCCTGCCAGCCTTCAGGCCACTCTCCTGTGCCTGCCAGAAGAGACAGAGCTTGAGGAGAGCTTGAGGAGAGCAGGAAA
GGACAATGCCGTCTTCTGTCTCGTGGGGCATCCTCCTGCTGGCAGGCCTGTGCTGCCTGGTCCCTGTCTCCCTGGCTGAGGATCCCCAGG
GAGATGCTGCCCAGAAGACAGATACATCCCACCATGATCAGGATCACCCAACCTTCAACAAGATCACCCCCAACCTGGCTGAGTTCGCCT
TCAGCCTATACCGCCAGCTGGCACACCAGTCCAACAGCACCAATATCTTCTTCTCCCCAGTGAGCATCGCTACAGCCTTTGCAATGCTCT
CCCTGGGGACCAAGGCTGACACTCACGATGAAATCCTGGAGGGCCTGAATTTCAACCTCACGGAGATTCCGGAGGCTCAGATCCATGAAG
GCTTCCAGGAACTCCTCCGTACCCTCAACCAGCCAGACAGCCAGCTCCAGCTGACCACCGGCAATGGCCTGTTCCTCAGCGAGGGCCTGA
AGCTAGTGGATAAGTTTTTGGAGGATGTTAAAAAGTTGTACCACTCAGAAGCCTTCACTGTCAACTTCGGGGACACCGAAGAGGCCAAGA
AACAGATCAACGATTACGTGGAGAAGGGTACTCAAGGGAAAATTGTGGATTTGGTCAAGGAGCTTGACAGAGACACAGTTTTTGCTCTGG
TGAATTACATCTTCTTTAAAGGCAAATGGGAGAGACCCTTTGAAGTCAAGGACACCGAGGAAGAGGACTTCCACGTGGACCAGGTGACCA
CCGTGAAGGTGCCTATGATGAAGCGTTTAGGCATGTTTAACATCCAGCACTGTAAGAAGCTGTCCAGCTGGGTGCTGCTGATGAAATACC
TGGGCAATGCCACCGCCATCTTCTTCCTGCCTGATGAGGGGAAACTACAGCACCTGGAAAATGAACTCACCCACGATATCATCACCAAGT
TCCTGGAAAATGAAGACAGAAGGTCTGCCAGCTTACATTTACCCAAACTGTCCATTACTGGAACCTATGATCTGAAGAGCGTCCTGGGTC
AACTGGGCATCACTAAGGTCTTCAGCAATGGGGCTGACCTCTCCGGGGTCACAGAGGAGGCACCCCTGAAGCTCTCCAAGGCCGTGCATG
TGTTCAGAAAGGCTGCTGATGACACCTGGGAGCCATTTGCCTCTGGGAAAACCAGTGAGTCTGGAGAGCTGCATGGGCTCACAACTGAGG
AGGAATTTGTAGAAGGGATATACAAAGTGGAAATAGACACCAAATCTTACTGGAAGGCACTTGGCATCTCCCCATTCCATGAGCATGCAG
AGGTGGTATTCACAGCCAACGACTCCGGCCCCCGCCGCTACACCATTGCCGCCCTGCTGAGCCCCTACTCCTATTCCACCACGGCTGTCG
TCACCAATCCCAAGGAATGAGGGACTTCTCCTCCAGTGGACCTGAAGGACGAGGGATGGGATTTCATGTAACCAAGAGTATTCCATTTTT
ACTAAAGCAGTGTTTTCACCTCATATGCTATGTTAGAAGTCCAGGCAGAGACAATAAAACATTCCTGTGAAAGGCACTTTTCATTCCACT
TTAACTTGATTTTTTAAATTCCCTTATTGTCCCTTCCAAAAAAAAGAGAATCAAAATTTTACAAAGAATCAAAGGAATTCTAGAAAGTAT

>In-frame_ENST00000440909_ENST00000237014_TCGA-3A-A9IO_SERPINA1_chr14_94845802_-_TTR_chr18_29172933_length(amino acids)=454AA_start in transcript=185_stop in transcript=1549
MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSL
GTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQ
INDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLG
NATAIFFLPDEGKLQHLENELTHDIITKFLENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHVF
RKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVT

--------------------------------------------------------------
>In-frame_ENST00000448921_ENST00000237014_TCGA-3A-A9IO_SERPINA1_chr14_94845802_-_TTR_chr18_29172933_length(transcript)=2274nt_BP=1638nt
TGGGCAGGAACTGGGCACTGTGCCCAGGGCATGCACTGCCTCCACGCAGCAACCCTCAGAGTCCTGAGCTGAACCAAGAAGGAGGAGGGG
GTCGGGCCTCCGAGGAAGGCCTAGCCGCTGCTGCTGCCAGGAATTCCAGGTTGGAGGGGCGGCAACCTCCTGCCAGCCTTCAGGCCACTC
TCCTGTGCCTGCCAGAAGAGACAGAGCTTGAGGAGAGCTTGAGGAGAGCAGGAAAGGTGGGACATTGCTGCTGCTGCTCACTCAGTTCCA
CAGGGCGGCAGTAAGTCTTCAGCATCAGGCATTTTGGGGTGACTCAGTAAATGGTAGATCTTGCTACCAGTGGAACAGCCACTAAGGATT
CTGCAGTGAGAGCAGAGGGCCAGCTAAGTGGTACTCTCCCAGAGACTGTCTGACTCACGCCACCCCCTCCACCTTGGACACAGGACGCTG
TGGTTTCTGAGCCAGCAGCCTCCCCCGTTGCCCCTCTGGATCCACTGCTTAAATACGGACGAGGACAGGGCCCTGTCTCCTCAGCTTCAG
GCACCACCACTGACCTGGGACAGTGAATCGACAATGCCGTCTTCTGTCTCGTGGGGCATCCTCCTGCTGGCAGGCCTGTGCTGCCTGGTC
CCTGTCTCCCTGGCTGAGGATCCCCAGGGAGATGCTGCCCAGAAGACAGATACATCCCACCATGATCAGGATCACCCAACCTTCAACAAG
ATCACCCCCAACCTGGCTGAGTTCGCCTTCAGCCTATACCGCCAGCTGGCACACCAGTCCAACAGCACCAATATCTTCTTCTCCCCAGTG
AGCATCGCTACAGCCTTTGCAATGCTCTCCCTGGGGACCAAGGCTGACACTCACGATGAAATCCTGGAGGGCCTGAATTTCAACCTCACG
GAGATTCCGGAGGCTCAGATCCATGAAGGCTTCCAGGAACTCCTCCGTACCCTCAACCAGCCAGACAGCCAGCTCCAGCTGACCACCGGC
AATGGCCTGTTCCTCAGCGAGGGCCTGAAGCTAGTGGATAAGTTTTTGGAGGATGTTAAAAAGTTGTACCACTCAGAAGCCTTCACTGTC
AACTTCGGGGACACCGAAGAGGCCAAGAAACAGATCAACGATTACGTGGAGAAGGGTACTCAAGGGAAAATTGTGGATTTGGTCAAGGAG
CTTGACAGAGACACAGTTTTTGCTCTGGTGAATTACATCTTCTTTAAAGGCAAATGGGAGAGACCCTTTGAAGTCAAGGACACCGAGGAA
GAGGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTATGATGAAGCGTTTAGGCATGTTTAACATCCAGCACTGTAAGAAGCTG
TCCAGCTGGGTGCTGCTGATGAAATACCTGGGCAATGCCACCGCCATCTTCTTCCTGCCTGATGAGGGGAAACTACAGCACCTGGAAAAT
GAACTCACCCACGATATCATCACCAAGTTCCTGGAAAATGAAGACAGAAGGTCTGCCAGCTTACATTTACCCAAACTGTCCATTACTGGA
ACCTATGATCTGAAGAGCGTCCTGGGTCAACTGGGCATCACTAAGGTCTTCAGCAATGGGGCTGACCTCTCCGGGGTCACAGAGGAGGCA
CCCCTGAAGCTCTCCAAGGCCGTGCATGTGTTCAGAAAGGCTGCTGATGACACCTGGGAGCCATTTGCCTCTGGGAAAACCAGTGAGTCT
GGAGAGCTGCATGGGCTCACAACTGAGGAGGAATTTGTAGAAGGGATATACAAAGTGGAAATAGACACCAAATCTTACTGGAAGGCACTT
GGCATCTCCCCATTCCATGAGCATGCAGAGGTGGTATTCACAGCCAACGACTCCGGCCCCCGCCGCTACACCATTGCCGCCCTGCTGAGC
CCCTACTCCTATTCCACCACGGCTGTCGTCACCAATCCCAAGGAATGAGGGACTTCTCCTCCAGTGGACCTGAAGGACGAGGGATGGGAT
TTCATGTAACCAAGAGTATTCCATTTTTACTAAAGCAGTGTTTTCACCTCATATGCTATGTTAGAAGTCCAGGCAGAGACAATAAAACAT
TCCTGTGAAAGGCACTTTTCATTCCACTTTAACTTGATTTTTTAAATTCCCTTATTGTCCCTTCCAAAAAAAAGAGAATCAAAATTTTAC
AAAGAATCAAAGGAATTCTAGAAAGTATCTGGGCAGAACGCTAGGAGAGATCCAAATTTCCATTGTCTTGCAAGCAAAGCACGTATTAAA

>In-frame_ENST00000448921_ENST00000237014_TCGA-3A-A9IO_SERPINA1_chr14_94845802_-_TTR_chr18_29172933_length(amino acids)=510AA_start in transcript=405_stop in transcript=1937
MSDSRHPLHLGHRTLWFLSQQPPPLPLWIHCLNTDEDRALSPQLQAPPLTWDSESTMPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQK
TDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELL
RTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFF
KGKWERPFEVKDTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFLENED
RRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEG

--------------------------------------------------------------
>In-frame_ENST00000437397_ENST00000237014_TCGA-3A-A9IO_SERPINA1_chr14_94845802_-_TTR_chr18_29172933_length(transcript)=2082nt_BP=1446nt
TGGGCAGGAACTGGGCACTGTGCCCAGGGCATGCACTGCCTCCACGCAGCAACCCTCAGAGTCCTGAGCTGAACCAAGAAGGAGGAGGGG
GTCGGGCCTCCGAGGAAGGCCTAGCCGCTGCTGCTGCCAGGAATTCCAGGTTGGAGGGGCGGCAACCTCCTGCCAGCCTTCAGGCCACTC
TCCTGTGCCTGCCAGAAGAGACAGAGCTTGAGGAGAGCTTGAGGAGAGCAGGAAAGGTGGGACATTGCTGCTGCTGCTCACTCAGTTCCA
CAGCAGCCTCCCCCGTTGCCCCTCTGGATCCACTGCTTAAATACGGACGAGGACAGGGCCCTGTCTCCTCAGCTTCAGGCACCACCACTG
ACCTGGGACAGTGAATCGACAATGCCGTCTTCTGTCTCGTGGGGCATCCTCCTGCTGGCAGGCCTGTGCTGCCTGGTCCCTGTCTCCCTG
GCTGAGGATCCCCAGGGAGATGCTGCCCAGAAGACAGATACATCCCACCATGATCAGGATCACCCAACCTTCAACAAGATCACCCCCAAC
CTGGCTGAGTTCGCCTTCAGCCTATACCGCCAGCTGGCACACCAGTCCAACAGCACCAATATCTTCTTCTCCCCAGTGAGCATCGCTACA
GCCTTTGCAATGCTCTCCCTGGGGACCAAGGCTGACACTCACGATGAAATCCTGGAGGGCCTGAATTTCAACCTCACGGAGATTCCGGAG
GCTCAGATCCATGAAGGCTTCCAGGAACTCCTCCGTACCCTCAACCAGCCAGACAGCCAGCTCCAGCTGACCACCGGCAATGGCCTGTTC
CTCAGCGAGGGCCTGAAGCTAGTGGATAAGTTTTTGGAGGATGTTAAAAAGTTGTACCACTCAGAAGCCTTCACTGTCAACTTCGGGGAC
ACCGAAGAGGCCAAGAAACAGATCAACGATTACGTGGAGAAGGGTACTCAAGGGAAAATTGTGGATTTGGTCAAGGAGCTTGACAGAGAC
ACAGTTTTTGCTCTGGTGAATTACATCTTCTTTAAAGGCAAATGGGAGAGACCCTTTGAAGTCAAGGACACCGAGGAAGAGGACTTCCAC
GTGGACCAGGTGACCACCGTGAAGGTGCCTATGATGAAGCGTTTAGGCATGTTTAACATCCAGCACTGTAAGAAGCTGTCCAGCTGGGTG
CTGCTGATGAAATACCTGGGCAATGCCACCGCCATCTTCTTCCTGCCTGATGAGGGGAAACTACAGCACCTGGAAAATGAACTCACCCAC
GATATCATCACCAAGTTCCTGGAAAATGAAGACAGAAGGTCTGCCAGCTTACATTTACCCAAACTGTCCATTACTGGAACCTATGATCTG
AAGAGCGTCCTGGGTCAACTGGGCATCACTAAGGTCTTCAGCAATGGGGCTGACCTCTCCGGGGTCACAGAGGAGGCACCCCTGAAGCTC
TCCAAGGCCGTGCATGTGTTCAGAAAGGCTGCTGATGACACCTGGGAGCCATTTGCCTCTGGGAAAACCAGTGAGTCTGGAGAGCTGCAT
GGGCTCACAACTGAGGAGGAATTTGTAGAAGGGATATACAAAGTGGAAATAGACACCAAATCTTACTGGAAGGCACTTGGCATCTCCCCA
TTCCATGAGCATGCAGAGGTGGTATTCACAGCCAACGACTCCGGCCCCCGCCGCTACACCATTGCCGCCCTGCTGAGCCCCTACTCCTAT
TCCACCACGGCTGTCGTCACCAATCCCAAGGAATGAGGGACTTCTCCTCCAGTGGACCTGAAGGACGAGGGATGGGATTTCATGTAACCA
AGAGTATTCCATTTTTACTAAAGCAGTGTTTTCACCTCATATGCTATGTTAGAAGTCCAGGCAGAGACAATAAAACATTCCTGTGAAAGG
CACTTTTCATTCCACTTTAACTTGATTTTTTAAATTCCCTTATTGTCCCTTCCAAAAAAAAGAGAATCAAAATTTTACAAAGAATCAAAG
GAATTCTAGAAAGTATCTGGGCAGAACGCTAGGAGAGATCCAAATTTCCATTGTCTTGCAAGCAAAGCACGTATTAAATATGATCTGCAG

>In-frame_ENST00000437397_ENST00000237014_TCGA-3A-A9IO_SERPINA1_chr14_94845802_-_TTR_chr18_29172933_length(amino acids)=486AA_start in transcript=285_stop in transcript=1745
MPLWIHCLNTDEDRALSPQLQAPPLTWDSESTMPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFA
FSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGL
KLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQVT
TVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFLENEDRRSASLHLPKLSITGTYDLKSVLG
QLGITKVFSNGADLSGVTEEAPLKLSKAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHA

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

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Fusion Gene PPI Analysis for SERPINA1-TTR

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

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Related Drugs for SERPINA1-TTR

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 SERPINA1-TTR

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	SERPINA1	C0023895	Liver diseases	6	CTD_human
Hgene	SERPINA1	C0086565	Liver Dysfunction	6	CTD_human
Hgene	SERPINA1	C0221757	alpha 1-Antitrypsin Deficiency	6	CTD_human;GENOMICS_ENGLAND
Hgene	SERPINA1	C0023890	Liver Cirrhosis	3	CTD_human
Hgene	SERPINA1	C0239946	Fibrosis, Liver	3	CTD_human
Hgene	SERPINA1	C0005586	Bipolar Disorder	2	CTD_human;PSYGENET
Hgene	SERPINA1	C0024117	Chronic Obstructive Airway Disease	2	CTD_human
Hgene	SERPINA1	C0030328	Panniculitis, Nodular Nonsuppurative	2	CTD_human
Hgene	SERPINA1	C0525045	Mood Disorders	2	PSYGENET
Hgene	SERPINA1	C1527303	Chronic Airflow Obstruction	2	CTD_human
Hgene	SERPINA1	C2239176	Liver carcinoma	2	CTD_human
Hgene	SERPINA1	C0001418	Adenocarcinoma	1	CTD_human
Hgene	SERPINA1	C0003469	Anxiety Disorders	1	CTD_human
Hgene	SERPINA1	C0003850	Arteriosclerosis	1	CTD_human
Hgene	SERPINA1	C0003949	Asbestosis	1	CTD_human
Hgene	SERPINA1	C0005587	Depression, Bipolar	1	CTD_human
Hgene	SERPINA1	C0006267	Bronchiectasis	1	CTD_human
Hgene	SERPINA1	C0008370	Cholestasis	1	CTD_human
Hgene	SERPINA1	C0013221	Drug toxicity	1	CTD_human
Hgene	SERPINA1	C0013990	Pathological accumulation of air in tissues	1	CTD_human
Hgene	SERPINA1	C0019080	Hemorrhage	1	CTD_human
Hgene	SERPINA1	C0019693	HIV Infections	1	CTD_human
Hgene	SERPINA1	C0020615	Hypoglycemia	1	CTD_human
Hgene	SERPINA1	C0022660	Kidney Failure, Acute	1	CTD_human
Hgene	SERPINA1	C0024115	Lung diseases	1	CTD_human;GENOMICS_ENGLAND
Hgene	SERPINA1	C0024121	Lung Neoplasms	1	CTD_human
Hgene	SERPINA1	C0024623	Malignant neoplasm of stomach	1	CTD_human
Hgene	SERPINA1	C0024713	Manic Disorder	1	CTD_human
Hgene	SERPINA1	C0027627	Neoplasm Metastasis	1	CTD_human
Hgene	SERPINA1	C0034067	Pulmonary Emphysema	1	CTD_human
Hgene	SERPINA1	C0034069	Pulmonary Fibrosis	1	CTD_human
Hgene	SERPINA1	C0038356	Stomach Neoplasms	1	CTD_human
Hgene	SERPINA1	C0039841	Thiamine Deficiency	1	CTD_human
Hgene	SERPINA1	C0041755	Adverse reaction to drug	1	CTD_human
Hgene	SERPINA1	C0042384	Vasculitis	1	CTD_human
Hgene	SERPINA1	C0205641	Adenocarcinoma, Basal Cell	1	CTD_human
Hgene	SERPINA1	C0205642	Adenocarcinoma, Oxyphilic	1	CTD_human
Hgene	SERPINA1	C0205643	Carcinoma, Cribriform	1	CTD_human
Hgene	SERPINA1	C0205644	Carcinoma, Granular Cell	1	CTD_human
Hgene	SERPINA1	C0205645	Adenocarcinoma, Tubular	1	CTD_human
Hgene	SERPINA1	C0221227	Centriacinar Emphysema	1	CTD_human
Hgene	SERPINA1	C0242379	Malignant neoplasm of lung	1	CTD_human
Hgene	SERPINA1	C0264393	Panacinar Emphysema	1	CTD_human
Hgene	SERPINA1	C0270715	Degenerative Diseases, Central Nervous System	1	CTD_human
Hgene	SERPINA1	C0271708	Fasting Hypoglycemia	1	CTD_human
Hgene	SERPINA1	C0271710	Reactive hypoglycemia	1	CTD_human
Hgene	SERPINA1	C0338831	Manic	1	CTD_human
Hgene	SERPINA1	C0376280	Anxiety States, Neurotic	1	CTD_human
Hgene	SERPINA1	C0524851	Neurodegenerative Disorders	1	CTD_human
Hgene	SERPINA1	C0751733	Degenerative Diseases, Spinal Cord	1	CTD_human
Hgene	SERPINA1	C1279420	Anxiety neurosis (finding)	1	CTD_human
Hgene	SERPINA1	C1565662	Acute Kidney Insufficiency	1	CTD_human
Hgene	SERPINA1	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
Hgene	SERPINA1	C2350878	Focal Emphysema	1	CTD_human
Hgene	SERPINA1	C2609414	Acute kidney injury	1	CTD_human
Hgene	SERPINA1	C2930617	Pulmonary Fibrosis - from Asbestos Exposure	1	CTD_human
Hgene	SERPINA1	C2930967	Gastro-enteropancreatic neuroendocrine tumor	1	CTD_human
Hgene	SERPINA1	C4505456	HIV Coinfection	1	CTD_human
Hgene	SERPINA1	C4721507	Alveolitis, Fibrosing	1	CTD_human
Tgene	TTR	C2751492	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	74	CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene	TTR	C0206245	Amyloid Neuropathies, Familial	6	CTD_human;GENOMICS_ENGLAND;ORPHANET
Tgene	TTR	C0011570	Mental Depression	5	PSYGENET
Tgene	TTR	C0011581	Depressive disorder	5	PSYGENET
Tgene	TTR	C0155127	Familial Amyloid Polyneuropathy, Type V	4	CTD_human
Tgene	TTR	C0268383	Familial amyloid polyneuropathy, type VI	4	CTD_human
Tgene	TTR	C0268384	Familial Amyloid Neuropathy, Portuguese Type	4	CTD_human
Tgene	TTR	C0268385	Familial Amyloid Polyneuropathy, Jewish Type	4	CTD_human
Tgene	TTR	C0268386	Amyloid Polyneuropathy, Swiss Type	4	CTD_human
Tgene	TTR	C0342608	Amyloid Polyneuropathy, British Type (disorder)	4	CTD_human
Tgene	TTR	C0936273	Familial Amyloid Polyneuropathy, Type IV	4	CTD_human
Tgene	TTR	C1527337	Familial Amyloid Polyneuropathy, Appalachian Type	4	CTD_human
Tgene	TTR	C4551500	Amyloid Polyneuropathy, Iowa Type	4	CTD_human
Tgene	TTR	C0740340	Amyloidosis, Familial	3	CTD_human;GENOMICS_ENGLAND
Tgene	TTR	C0007286	Carpal Tunnel Syndrome	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene	TTR	C0024121	Lung Neoplasms	2	CTD_human
Tgene	TTR	C0032580	Adenomatous Polyposis Coli	2	GENOMICS_ENGLAND
Tgene	TTR	C0242379	Malignant neoplasm of lung	2	CTD_human
Tgene	TTR	C0878544	Cardiomyopathies	2	GENOMICS_ENGLAND
Tgene	TTR	C2750824	Dystransthyretinemic Euthyroidal Hyperthyroxinemia	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene	TTR	C4275067	Transthyretin related familial amyloid cardiomyopathy	2	ORPHANET
Tgene	TTR	C0002726	Amyloidosis	1	CTD_human
Tgene	TTR	C0011609	Drug Eruptions	1	CTD_human
Tgene	TTR	C0013221	Drug toxicity	1	CTD_human
Tgene	TTR	C0019193	Hepatitis, Toxic	1	CTD_human
Tgene	TTR	C0022660	Kidney Failure, Acute	1	CTD_human
Tgene	TTR	C0041755	Adverse reaction to drug	1	CTD_human
Tgene	TTR	C0268407	Senile cardiac amyloidosis	1	GENOMICS_ENGLAND
Tgene	TTR	C0406537	Morbilliform Drug Reaction	1	CTD_human
Tgene	TTR	C0860207	Drug-Induced Liver Disease	1	CTD_human
Tgene	TTR	C1262760	Hepatitis, Drug-Induced	1	CTD_human
Tgene	TTR	C1565662	Acute Kidney Insufficiency	1	CTD_human
Tgene	TTR	C2609414	Acute kidney injury	1	CTD_human
Tgene	TTR	C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
Tgene	TTR	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
Tgene	TTR	C4279912	Chemically-Induced Liver Toxicity	1	CTD_human