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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:HPS3-SLC1A3 (FusionGDB2 ID:37537)

Fusion Gene Summary for HPS3-SLC1A3

Fusion gene summary

Fusion gene information	Fusion gene name: HPS3-SLC1A3
	Fusion gene ID: 37537
		Hgene	Tgene
	Gene symbol	HPS3	SLC1A3
	Gene ID	84343	6507
	Gene name	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	solute carrier family 1 member 3
	Synonyms	BLOC2S1\|SUTAL	EA6\|EAAT1\|GLAST\|GLAST1
	Cytomap	3q24	5p13.2
	Type of gene	protein-coding	protein-coding
	Description	Hermansky-Pudlak syndrome 3 protein	excitatory amino acid transporter 1GLAST-1sodium-dependent glutamate/aspartate transporter 1solute carrier family 1 (glial high affinity glutamate transporter), member 3
	Modification date	20200313	20200320
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000494327, ENST00000296051, ENST00000460120,	ENST00000265113, ENST00000381918, ENST00000506725,
Fusion gene scores	* DoF score	6 X 2 X 6=72	12 X 11 X 7=924
	# samples	7	15
	** MAII score	log2(7/72*10)=-0.0406419844973459 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(15/924*10)=-2.62293035092018 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: HPS3 [Title/Abstract] AND SLC1A3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	HPS3(148847727)-SLC1A3(36671130), # 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
Tgene	SLC1A3	GO:0015813	L-glutamate transmembrane transport	26690923
Tgene	SLC1A3	GO:0051938	L-glutamate import	7521911
Tgene	SLC1A3	GO:0070779	D-aspartate import across plasma membrane	7521911
Tgene	SLC1A3	GO:0071805	potassium ion transmembrane transport	20477940
Tgene	SLC1A3	GO:0098712	L-glutamate import across plasma membrane	26690923
Tgene	SLC1A3	GO:0140009	L-aspartate import across plasma membrane	20477940
Tgene	SLC1A3	GO:1902476	chloride transmembrane transport	20477940

Fusion gene breakpoints across HPS3 (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 SLC1A3 (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	LGG	TCGA-E1-5303	HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+

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Fusion Gene ORF analysis for HPS3-SLC1A3

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
3UTR-3CDS	ENST00000494327	ENST00000265113	HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+
3UTR-intron	ENST00000494327	ENST00000381918	HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+
3UTR-intron	ENST00000494327	ENST00000506725	HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+
5CDS-intron	ENST00000296051	ENST00000381918	HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+
5CDS-intron	ENST00000296051	ENST00000506725	HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+
5CDS-intron	ENST00000460120	ENST00000381918	HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+
5CDS-intron	ENST00000460120	ENST00000506725	HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+
In-frame	ENST00000296051	ENST00000265113	HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+
In-frame	ENST00000460120	ENST00000265113	HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+

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)

ENST00000296051

HPS3

chr3

148847727

ENST00000265113

SLC1A3

chr5

36671130

3732

357

140

1666

508

ENST00000460120

HPS3

chr3

148847727

ENST00000265113

SLC1A3

chr5

36671130

3678

303

1612

508

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
ENST00000296051	ENST00000265113	HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+	0.000946248	0.9990538
ENST00000460120	ENST00000265113	HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+	0.000910382	0.9990896

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Fusion Genomic Features for HPS3-SLC1A3

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)
HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+	2.18E-05	0.9999782
HPS3	chr3	148847727	+	SLC1A3	chr5	36671130	+	2.18E-05	0.9999782

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 HPS3-SLC1A3

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr3:148847727/chr5:36671130)
- 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

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

346_376

106

543.0

Intramembrane

Discontinuously helical

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

426_459

106

543.0

Intramembrane

Discontinuously helical

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

346_376

106

498.0

Intramembrane

Discontinuously helical

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

426_459

106

498.0

Intramembrane

Discontinuously helical

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

363_365

106

543.0

Region

Aspartate binding

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

443_447

106

543.0

Region

Aspartate binding

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

363_365

106

498.0

Region

Aspartate binding

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

443_447

106

498.0

Region

Aspartate binding

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

109_122

106

543.0

Topological domain

Cytoplasmic

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

146_236

106

543.0

Topological domain

Extracellular

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

261_269

106

543.0

Topological domain

Cytoplasmic

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

298_318

106

543.0

Topological domain

Extracellular

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

341_345

106

543.0

Topological domain

Cytoplasmic

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

377_385

106

543.0

Topological domain

Cytoplasmic

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

413_425

106

543.0

Topological domain

Extracellular

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

460_472

106

543.0

Topological domain

Extracellular

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

495_542

106

543.0

Topological domain

Cytoplasmic

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

109_122

106

498.0

Topological domain

Cytoplasmic

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

146_236

106

498.0

Topological domain

Extracellular

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

261_269

106

498.0

Topological domain

Cytoplasmic

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

298_318

106

498.0

Topological domain

Extracellular

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

341_345

106

498.0

Topological domain

Cytoplasmic

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

377_385

106

498.0

Topological domain

Cytoplasmic

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

413_425

106

498.0

Topological domain

Extracellular

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

460_472

106

498.0

Topological domain

Extracellular

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

495_542

106

498.0

Topological domain

Cytoplasmic

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

123_145

106

543.0

Transmembrane

Helical%3B Name%3D3

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

237_260

106

543.0

Transmembrane

Helical%3B Name%3D4

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

270_297

106

543.0

Transmembrane

Helical%3B Name%3D5

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

319_340

106

543.0

Transmembrane

Helical%3B Name%3D6

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

386_412

106

543.0

Transmembrane

Helical%3B Name%3D7

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

473_494

106

543.0

Transmembrane

Helical%3B Name%3D8

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

123_145

106

498.0

Transmembrane

Helical%3B Name%3D3

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

237_260

106

498.0

Transmembrane

Helical%3B Name%3D4

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

270_297

106

498.0

Transmembrane

Helical%3B Name%3D5

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

319_340

106

498.0

Transmembrane

Helical%3B Name%3D6

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

386_412

106

498.0

Transmembrane

Helical%3B Name%3D7

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

473_494

106

498.0

Transmembrane

Helical%3B Name%3D8

- 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

HPS3

chr3:148847727

chr5:36671130

ENST00000296051

172_176

1005.0

Motif

Clathrin-binding

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

1_47

106

543.0

Topological domain

Cytoplasmic

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

69_86

106

543.0

Topological domain

Extracellular

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

1_47

106

498.0

Topological domain

Cytoplasmic

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

69_86

106

498.0

Topological domain

Extracellular

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

48_68

106

543.0

Transmembrane

Helical%3B Name%3D1

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000265113

87_108

106

543.0

Transmembrane

Helical%3B Name%3D2

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

48_68

106

498.0

Transmembrane

Helical%3B Name%3D1

Tgene

SLC1A3

chr3:148847727

chr5:36671130

ENST00000381918

87_108

106

498.0

Transmembrane

Helical%3B Name%3D2

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Fusion Gene Sequence for HPS3-SLC1A3

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.

>37537_37537_1_HPS3-SLC1A3_HPS3_chr3_148847727_ENST00000296051_SLC1A3_chr5_36671130_ENST00000265113_length(transcript)=3732nt_BP=357nt
CCGCGGGCGGGGCCGGCTGGCGTTCACGTGACCCGGCGTCATTGGCTCGCTCGCGGAAGTAGTCCTACATTCGCGGTCAGCGCGGGGTCT
CCGGGCGCCCTGCAGGGCGGGCAGGCTGTGCCATCCCGCCGGACGTCGGGATGGTGCAGCTGTACAACCTGCACCCGTTCGGGTCGCAGC
AGGTGGTGCCCTGCAAGCTGGAGCCGGACCGGTTCTGTGGCGGGGGGCGTGACGCGCTTTTCGTGGCGGCGGGCTGCAAGGTGGAGGCGT
TCGCGGTGGCCGGCCAGGAGCTGTGCCAGCCGCGGTGCGCCTTCTCCACGCTGGGCCGGGTGTTGCGCCTGGCCTACAGCGAGGCTGGAA
TGGCGGCGCTAGATAGTAAGGCATCAGGGAAGATGGGAATGCGAGCTGTAGTCTATTATATGACTACCACCATCATTGCTGTGGTGATTG
GCATAATCATTGTCATCATCATCCATCCTGGGAAGGGCACAAAGGAAAACATGCACAGAGAAGGCAAAATTGTACGAGTGACAGCTGCAG
ATGCCTTCCTGGACTTGATCAGGAACATGTTCCCTCCAAATCTGGTAGAAGCCTGCTTTAAACAGTTTAAAACCAACTATGAGAAGAGAA
GCTTTAAAGTGCCCATCCAGGCCAACGAAACGCTTGTGGGTGCTGTGATAAACAATGTGTCTGAGGCCATGGAGACTCTTACCCGAATCA
CAGAGGAGCTGGTCCCAGTTCCAGGATCTGTGAATGGAGTCAATGCCCTGGGTCTAGTTGTCTTCTCCATGTGCTTCGGTTTTGTGATTG
GAAACATGAAGGAACAGGGGCAGGCCCTGAGAGAGTTCTTTGATTCTCTTAACGAAGCCATCATGAGACTGGTAGCAGTAATAATGTGGT
ATGCCCCCGTGGGTATTCTCTTCCTGATTGCTGGGAAGATTGTGGAGATGGAAGACATGGGTGTGATTGGGGGGCAGCTTGCCATGTACA
CCGTGACTGTCATTGTTGGCTTACTCATTCACGCAGTCATCGTCTTGCCACTCCTCTACTTCTTGGTAACACGGAAAAACCCTTGGGTTT
TTATTGGAGGGTTGCTGCAAGCACTCATCACCGCTCTGGGGACCTCTTCAAGTTCTGCCACCCTACCCATCACCTTCAAGTGCCTGGAAG
AGAACAATGGCGTGGACAAGCGCGTCACCAGATTCGTGCTCCCCGTAGGAGCCACCATTAACATGGATGGGACTGCCCTCTATGAGGCTT
TGGCTGCCATTTTCATTGCTCAAGTTAACAACTTTGAACTGAACTTCGGACAAATTATTACAATCAGCATCACAGCCACAGCTGCCAGTA
TTGGGGCAGCTGGAATTCCTCAGGCGGGCCTGGTCACTATGGTCATTGTGCTGACATCTGTCGGCCTGCCCACTGACGACATCACGCTCA
TCATCGCGGTGGACTGGTTCCTGGATCGCCTCCGGACCACCACCAACGTACTGGGAGACTCCCTGGGAGCTGGGATTGTGGAGCACTTGT
CACGACATGAACTGAAGAACAGAGATGTTGAAATGGGTAACTCAGTGATTGAAGAGAATGAAATGAAGAAACCATATCAACTGATTGCAC
AGGACAATGAAACTGAGAAACCCATCGACAGTGAAACCAAGATGTAGACTAACATAAAGAAACACTTTCTTGAGCACCAGGTGTTAAAAA
CCATTATAAAATCTTTCCATCTCATTACAGCTCATTCGCTCCAGCAAGCCCGTCATCTTCCCTTTCCTCCCTTCTGATAAGACTGGAAAA
TAGTCCTCCAAAACACAAGGGAGGATTTTGGGTGGCCAAAGTGTACAATTTTCATCCCACAATTGAAATTTTTAAATCATTTCATGTTAG
TCTTACCGAATAAGGTACCAAGATCACAAATAGTGTTGATCAGATCTTACAAGTTTATGTGGCACACAATCCTATAAATGTGATTTTTTT
ATATAAGTTAAAGAGACAAATAGTAGGCTAAAAACATTTTAAAATCAACTTTTGAAATTTAAAAATCTTTCAGAATACAATTCAGTTTTA
GTTTCAAAATGTTAACAACTTGAATTACAACCGGTTATCAGTTGGACAGTAAGATTTTATCCCTTTCTCTTCTGACTGGTATACCTATTT
CATTAGTAGCTAGGTGCACATATACATCTAGCACAGCTGTGAGGACAGACAGAAGGCAAAGTTTCCATGTGGCCTTGAGCAAGTCCCATC
TCACCTCTAGGCCTCAGTGTCCTCATCTATAAAATGAGGGACTTCCCTAGAAGTCTTCATGGTCTCTTCCAGCCCAGACATCCTGTGATG
TCATGAAAGCACCTGCCCTCTGTTTCCCCTCAGAACACCCTGTACCATCCATGGAGCACGAGGCCTTCAGAAAAGACACTTCAATGGGAG
TGAACATTTCTAACTAAGGACAGGATGGCTGTGTGTGGTGGTCACCAGGTCCTGTGAGCAAAGTGCAGGTTATGCAAGTCGCCAGGCAGG
AGGCCATTCCAGGAGTGGGATTATTCATCAAACTCTTTGCCCAGTTCATCCCAATGGGGGAAGTATTCCCTTCTTTCCTACTCTGGGAAG
AATGTCTCCTGCCACTCCTCAACTGATGATAGACTTCGAAAACAGATGAGAAGACTAGCAGCTAGCAAGGGTGCTTGTGGTCACACTGTG
GAACACTAAAGAGCTAGGAAAGAGTTGAGCACAGGCAACATTACAAACAAAGGATTTGAAAACACCAAGAGTACAGGTCTTCTTTAAGGA
AGAATAAAAAAGAAGAGGTTCATTTTTCTGGCTTTTTTTTTCACCTGAAACACTTTTTCTCGAGTCCAAAATCATTCCCCCCGTGAAGTC
TGCTTACCAAAACATAAGACGACTTATATATTTGAAAGAAGTCAAATGAATGAGCTCTCTAATAGAAGTCCATGAGTTGAGTGGGTATTT
CTTATTTGAAAGTGTTTTTCTTTAATCAAAAGTCCTTAGAATGAGGGAAACAAAATATTTATTTGTTTTGGAATCCCACTTATCAAATCA
TTCAAAACTTTCAGCTGGAGTGGGGTTTGCTTTTGTTTTGTTTGTGTCCATAAGAGAAATGGTAGAAGATGAATCAGTATGAAGACACTG
TCAATGAGGTTATGAGAAAAAAACAGCAGGGGCATTAGTTTCAGGCAAGGCAGCTCCCAGGTTTAGAGATTAATTTTTACCCCCTAAGGA
ATATCCAGTCAAAGACGCTGAGTGGGAGCTGTCAGGCAGTAGCAGCTGTGTTTGAGTTTCTGGCTGAAAATGGTGAAGAATGGACTTAAT
TATGCTAACAAACTGAAAAATCTAGACATAGATCCTCTGATATACAATTAGAGATATTTTTATATAGACCCCAAGCATTCTGTGCATAAA
AGTTAACATTAGGCTGTGGTGCAGTAACCATTTAATGTCGAGGCTCTATTTCGGAAATACACTACAAATGTTAAAGTACGTGGCTGTCCT
CTTAAGACACTAGTAGAGCAAAGACTTAATCATATCAACTTAATTCTGTTACACAATATGTGTTTTTTAATATACTAACCATTTCTTATG
GAAAGGTCCTGTGGGGAGCCCATCCTCTCGCCAAGCCATCACAGGCTCTGCATACACATGCACTCAGTGTGGACTGGGAAGCATTACTTT

>37537_37537_1_HPS3-SLC1A3_HPS3_chr3_148847727_ENST00000296051_SLC1A3_chr5_36671130_ENST00000265113_length(amino acids)=508AA_BP=72
MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFSTLGRVLRLAYSEAGMAALDSKASGKMGMRAV
VYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGKIVRVTAADAFLDLIRNMFPPNLVEACFKQFKTNYEKRSFKVPIQANETLVGAVI
NNVSEAMETLTRITEELVPVPGSVNGVNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGKIVEM
EDMGVIGGQLAMYTVTVIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITALGTSSSSATLPITFKCLEENNGVDKRVTRFVLPVG
ATINMDGTALYEALAAIFIAQVNNFELNFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWFLDRLRTTTNV

--------------------------------------------------------------
>37537_37537_2_HPS3-SLC1A3_HPS3_chr3_148847727_ENST00000460120_SLC1A3_chr5_36671130_ENST00000265113_length(transcript)=3678nt_BP=303nt
GGAAGTAGTCCTACATTCGCGGTCAGCGCGGGGTCTCCGGGCGCCCTGCAGGGCGGGCAGGCTGTGCCATCCCGCCGGACGTCGGGATGG
TGCAGCTGTACAACCTGCACCCGTTCGGGTCGCAGCAGGTGGTGCCCTGCAAGCTGGAGCCGGACCGGTTCTGTGGCGGGGGGCGTGACG
CGCTTTTCGTGGCGGCGGGCTGCAAGGTGGAGGCGTTCGCGGTGGCCGGCCAGGAGCTGTGCCAGCCGCGGTGCGCCTTCTCCACGCTGG
GCCGGGTGTTGCGCCTGGCCTACAGCGAGGCTGGAATGGCGGCGCTAGATAGTAAGGCATCAGGGAAGATGGGAATGCGAGCTGTAGTCT
ATTATATGACTACCACCATCATTGCTGTGGTGATTGGCATAATCATTGTCATCATCATCCATCCTGGGAAGGGCACAAAGGAAAACATGC
ACAGAGAAGGCAAAATTGTACGAGTGACAGCTGCAGATGCCTTCCTGGACTTGATCAGGAACATGTTCCCTCCAAATCTGGTAGAAGCCT
GCTTTAAACAGTTTAAAACCAACTATGAGAAGAGAAGCTTTAAAGTGCCCATCCAGGCCAACGAAACGCTTGTGGGTGCTGTGATAAACA
ATGTGTCTGAGGCCATGGAGACTCTTACCCGAATCACAGAGGAGCTGGTCCCAGTTCCAGGATCTGTGAATGGAGTCAATGCCCTGGGTC
TAGTTGTCTTCTCCATGTGCTTCGGTTTTGTGATTGGAAACATGAAGGAACAGGGGCAGGCCCTGAGAGAGTTCTTTGATTCTCTTAACG
AAGCCATCATGAGACTGGTAGCAGTAATAATGTGGTATGCCCCCGTGGGTATTCTCTTCCTGATTGCTGGGAAGATTGTGGAGATGGAAG
ACATGGGTGTGATTGGGGGGCAGCTTGCCATGTACACCGTGACTGTCATTGTTGGCTTACTCATTCACGCAGTCATCGTCTTGCCACTCC
TCTACTTCTTGGTAACACGGAAAAACCCTTGGGTTTTTATTGGAGGGTTGCTGCAAGCACTCATCACCGCTCTGGGGACCTCTTCAAGTT
CTGCCACCCTACCCATCACCTTCAAGTGCCTGGAAGAGAACAATGGCGTGGACAAGCGCGTCACCAGATTCGTGCTCCCCGTAGGAGCCA
CCATTAACATGGATGGGACTGCCCTCTATGAGGCTTTGGCTGCCATTTTCATTGCTCAAGTTAACAACTTTGAACTGAACTTCGGACAAA
TTATTACAATCAGCATCACAGCCACAGCTGCCAGTATTGGGGCAGCTGGAATTCCTCAGGCGGGCCTGGTCACTATGGTCATTGTGCTGA
CATCTGTCGGCCTGCCCACTGACGACATCACGCTCATCATCGCGGTGGACTGGTTCCTGGATCGCCTCCGGACCACCACCAACGTACTGG
GAGACTCCCTGGGAGCTGGGATTGTGGAGCACTTGTCACGACATGAACTGAAGAACAGAGATGTTGAAATGGGTAACTCAGTGATTGAAG
AGAATGAAATGAAGAAACCATATCAACTGATTGCACAGGACAATGAAACTGAGAAACCCATCGACAGTGAAACCAAGATGTAGACTAACA
TAAAGAAACACTTTCTTGAGCACCAGGTGTTAAAAACCATTATAAAATCTTTCCATCTCATTACAGCTCATTCGCTCCAGCAAGCCCGTC
ATCTTCCCTTTCCTCCCTTCTGATAAGACTGGAAAATAGTCCTCCAAAACACAAGGGAGGATTTTGGGTGGCCAAAGTGTACAATTTTCA
TCCCACAATTGAAATTTTTAAATCATTTCATGTTAGTCTTACCGAATAAGGTACCAAGATCACAAATAGTGTTGATCAGATCTTACAAGT
TTATGTGGCACACAATCCTATAAATGTGATTTTTTTATATAAGTTAAAGAGACAAATAGTAGGCTAAAAACATTTTAAAATCAACTTTTG
AAATTTAAAAATCTTTCAGAATACAATTCAGTTTTAGTTTCAAAATGTTAACAACTTGAATTACAACCGGTTATCAGTTGGACAGTAAGA
TTTTATCCCTTTCTCTTCTGACTGGTATACCTATTTCATTAGTAGCTAGGTGCACATATACATCTAGCACAGCTGTGAGGACAGACAGAA
GGCAAAGTTTCCATGTGGCCTTGAGCAAGTCCCATCTCACCTCTAGGCCTCAGTGTCCTCATCTATAAAATGAGGGACTTCCCTAGAAGT
CTTCATGGTCTCTTCCAGCCCAGACATCCTGTGATGTCATGAAAGCACCTGCCCTCTGTTTCCCCTCAGAACACCCTGTACCATCCATGG
AGCACGAGGCCTTCAGAAAAGACACTTCAATGGGAGTGAACATTTCTAACTAAGGACAGGATGGCTGTGTGTGGTGGTCACCAGGTCCTG
TGAGCAAAGTGCAGGTTATGCAAGTCGCCAGGCAGGAGGCCATTCCAGGAGTGGGATTATTCATCAAACTCTTTGCCCAGTTCATCCCAA
TGGGGGAAGTATTCCCTTCTTTCCTACTCTGGGAAGAATGTCTCCTGCCACTCCTCAACTGATGATAGACTTCGAAAACAGATGAGAAGA
CTAGCAGCTAGCAAGGGTGCTTGTGGTCACACTGTGGAACACTAAAGAGCTAGGAAAGAGTTGAGCACAGGCAACATTACAAACAAAGGA
TTTGAAAACACCAAGAGTACAGGTCTTCTTTAAGGAAGAATAAAAAAGAAGAGGTTCATTTTTCTGGCTTTTTTTTTCACCTGAAACACT
TTTTCTCGAGTCCAAAATCATTCCCCCCGTGAAGTCTGCTTACCAAAACATAAGACGACTTATATATTTGAAAGAAGTCAAATGAATGAG
CTCTCTAATAGAAGTCCATGAGTTGAGTGGGTATTTCTTATTTGAAAGTGTTTTTCTTTAATCAAAAGTCCTTAGAATGAGGGAAACAAA
ATATTTATTTGTTTTGGAATCCCACTTATCAAATCATTCAAAACTTTCAGCTGGAGTGGGGTTTGCTTTTGTTTTGTTTGTGTCCATAAG
AGAAATGGTAGAAGATGAATCAGTATGAAGACACTGTCAATGAGGTTATGAGAAAAAAACAGCAGGGGCATTAGTTTCAGGCAAGGCAGC
TCCCAGGTTTAGAGATTAATTTTTACCCCCTAAGGAATATCCAGTCAAAGACGCTGAGTGGGAGCTGTCAGGCAGTAGCAGCTGTGTTTG
AGTTTCTGGCTGAAAATGGTGAAGAATGGACTTAATTATGCTAACAAACTGAAAAATCTAGACATAGATCCTCTGATATACAATTAGAGA
TATTTTTATATAGACCCCAAGCATTCTGTGCATAAAAGTTAACATTAGGCTGTGGTGCAGTAACCATTTAATGTCGAGGCTCTATTTCGG
AAATACACTACAAATGTTAAAGTACGTGGCTGTCCTCTTAAGACACTAGTAGAGCAAAGACTTAATCATATCAACTTAATTCTGTTACAC
AATATGTGTTTTTTAATATACTAACCATTTCTTATGGAAAGGTCCTGTGGGGAGCCCATCCTCTCGCCAAGCCATCACAGGCTCTGCATA

>37537_37537_2_HPS3-SLC1A3_HPS3_chr3_148847727_ENST00000460120_SLC1A3_chr5_36671130_ENST00000265113_length(amino acids)=508AA_BP=72
MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFSTLGRVLRLAYSEAGMAALDSKASGKMGMRAV
VYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGKIVRVTAADAFLDLIRNMFPPNLVEACFKQFKTNYEKRSFKVPIQANETLVGAVI
NNVSEAMETLTRITEELVPVPGSVNGVNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGKIVEM
EDMGVIGGQLAMYTVTVIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITALGTSSSSATLPITFKCLEENNGVDKRVTRFVLPVG
ATINMDGTALYEALAAIFIAQVNNFELNFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWFLDRLRTTTNV

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

Top

Fusion Gene PPI Analysis for HPS3-SLC1A3

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 HPS3-SLC1A3

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 HPS3-SLC1A3

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source