UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY

Home

Download

Statistics

Examples

Help

Contact

level1

	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:GNAQ-HNRNPH1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: GNAQ-HNRNPH1
	FusionPDB ID: 33599
	FusionGDB2.0 ID: 33599
		Hgene	Tgene
	Gene symbol	GNAQ	HNRNPH1
	Gene ID	2776	3187
	Gene name	G protein subunit alpha q	heterogeneous nuclear ribonucleoprotein H1
	Synonyms	CMC1\|G-ALPHA-q\|GAQ\|SWS	HNRPH\|HNRPH1\|hnRNPH
	Cytomap	9q21.2	5q35.3
	Type of gene	protein-coding	protein-coding
	Description	guanine nucleotide-binding protein G(q) subunit alphaepididymis secretory sperm binding proteinguanine nucleotide binding protein (G protein), q polypeptideguanine nucleotide-binding protein alpha-q	heterogeneous nuclear ribonucleoprotein Hepididymis secretory sperm binding proteinheterogeneous nuclear ribonucleoprotein H1 (H)
	Modification date	20200313	20200320
	UniProtAcc	P50148	P31943
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000286548, ENST00000397476,	ENST00000511300, ENST00000524180, ENST00000329433, ENST00000356731, ENST00000393432, ENST00000442819, ENST00000510411,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	13 X 11 X 6=858	13 X 10 X 5=650
	# samples	16	14
	** MAII score	log2(16/858*10)=-2.42290574261218 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(14/650*10)=-2.21501289097085 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: GNAQ [Title/Abstract] AND HNRNPH1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	GNAQ(80412435)-HNRNPH1(179045324), # samples:1
Anticipated loss of major functional domain due to fusion event.	GNAQ-HNRNPH1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. GNAQ-HNRNPH1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. GNAQ-HNRNPH1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. GNAQ-HNRNPH1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	HNRNPH1	GO:0043484	regulation of RNA splicing	16946708

Fusion gene breakpoints across GNAQ (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 HNRNPH1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Top

Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	Non-Cancer	231N	GNAQ	chr9	80412435	-	HNRNPH1	chr5	179045324	-

Top

Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000286548	GNAQ	chr9	80412435	-	ENST00000393432	HNRNPH1	chr5	179045324	-	2424	828	199	1641	480
ENST00000286548	GNAQ	chr9	80412435	-	ENST00000442819	HNRNPH1	chr5	179045324	-	2423	828	199	1641	480
ENST00000286548	GNAQ	chr9	80412435	-	ENST00000356731	HNRNPH1	chr5	179045324	-	2423	828	199	1641	480
ENST00000286548	GNAQ	chr9	80412435	-	ENST00000329433	HNRNPH1	chr5	179045324	-	2371	828	199	1710	503
ENST00000286548	GNAQ	chr9	80412435	-	ENST00000510411	HNRNPH1	chr5	179045324	-	2361	828	199	1581	460

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
ENST00000286548	ENST00000393432	GNAQ	chr9	80412435	-	HNRNPH1	chr5	179045324	-	0.000259202	0.9997408
ENST00000286548	ENST00000442819	GNAQ	chr9	80412435	-	HNRNPH1	chr5	179045324	-	0.000256729	0.9997433
ENST00000286548	ENST00000356731	GNAQ	chr9	80412435	-	HNRNPH1	chr5	179045324	-	0.000256729	0.9997433
ENST00000286548	ENST00000329433	GNAQ	chr9	80412435	-	HNRNPH1	chr5	179045324	-	0.000265959	0.999734
ENST00000286548	ENST00000510411	GNAQ	chr9	80412435	-	HNRNPH1	chr5	179045324	-	0.000235837	0.99976414

Top

Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>33599_33599_1_GNAQ-HNRNPH1_GNAQ_chr9_80412435_ENST00000286548_HNRNPH1_chr5_179045324_ENST00000329433_length(amino acids)=503AA_BP=208
MQRRHFGRMTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGSGYSDEDKRGFTKLVYQN
IFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEKVSAFENPYVDAIKSLWNDPGIQECYDRRREYQLSDSTKYYLNDLDRVADPAY
LPTQQDVLRVRVPTTGIIEYPFDLQSVIFRYIEIFKSSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGAGFERMRRGAYGGG
YGGYDDYNGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSTFQSTTGHCVHMRGLPYRATENDIYNFFSPLNPVRVHIEIGPDGRVTG
EADVEFATHEDAVAAMSKDKANMQHRYVELFLNSTAGASGGAYEHRYVELFLNSTAGASGGAYGSQMMGGMGLSNQSSYGGPASQQLSGG

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

>33599_33599_2_GNAQ-HNRNPH1_GNAQ_chr9_80412435_ENST00000286548_HNRNPH1_chr5_179045324_ENST00000356731_length(amino acids)=480AA_BP=208
MQRRHFGRMTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGSGYSDEDKRGFTKLVYQN
IFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEKVSAFENPYVDAIKSLWNDPGIQECYDRRREYQLSDSTKYYLNDLDRVADPAY
LPTQQDVLRVRVPTTGIIEYPFDLQSVIFRYIEIFKSSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGAGFERMRRGAYGGG
YGGYDDYNGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSTFQSTTGHCVHMRGLPYRATENDIYNFFSPLNPVRVHIEIGPDGRVTG
EADVEFATHEDAVAAMSKDKANMQHRYVELFLNSTAGASGGAYEHRYVELFLNSTAGASGGAYGSQMMGGMGLSNQSSYGGPASQQLSGG

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

>33599_33599_3_GNAQ-HNRNPH1_GNAQ_chr9_80412435_ENST00000286548_HNRNPH1_chr5_179045324_ENST00000393432_length(amino acids)=480AA_BP=208
MQRRHFGRMTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGSGYSDEDKRGFTKLVYQN
IFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEKVSAFENPYVDAIKSLWNDPGIQECYDRRREYQLSDSTKYYLNDLDRVADPAY
LPTQQDVLRVRVPTTGIIEYPFDLQSVIFRYIEIFKSSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGAGFERMRRGAYGGG
YGGYDDYNGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSTFQSTTGHCVHMRGLPYRATENDIYNFFSPLNPVRVHIEIGPDGRVTG
EADVEFATHEDAVAAMSKDKANMQHRYVELFLNSTAGASGGAYEHRYVELFLNSTAGASGGAYGSQMMGGMGLSNQSSYGGPASQQLSGG

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

>33599_33599_4_GNAQ-HNRNPH1_GNAQ_chr9_80412435_ENST00000286548_HNRNPH1_chr5_179045324_ENST00000442819_length(amino acids)=480AA_BP=208
MQRRHFGRMTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGSGYSDEDKRGFTKLVYQN
IFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEKVSAFENPYVDAIKSLWNDPGIQECYDRRREYQLSDSTKYYLNDLDRVADPAY
LPTQQDVLRVRVPTTGIIEYPFDLQSVIFRYIEIFKSSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGAGFERMRRGAYGGG
YGGYDDYNGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSTFQSTTGHCVHMRGLPYRATENDIYNFFSPLNPVRVHIEIGPDGRVTG
EADVEFATHEDAVAAMSKDKANMQHRYVELFLNSTAGASGGAYEHRYVELFLNSTAGASGGAYGSQMMGGMGLSNQSSYGGPASQQLSGG

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

>33599_33599_5_GNAQ-HNRNPH1_GNAQ_chr9_80412435_ENST00000286548_HNRNPH1_chr5_179045324_ENST00000510411_length(amino acids)=460AA_BP=208
MQRRHFGRMTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGSGYSDEDKRGFTKLVYQN
IFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEKVSAFENPYVDAIKSLWNDPGIQECYDRRREYQLSDSTKYYLNDLDRVADPAY
LPTQQDVLRVRVPTTGIIEYPFDLQSVIFRYIEIFKSSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGAGFERMRRGAYGGG
YGGYDDYNGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSTFQSTTGHCVHMRGLPYRATENDIYNFFSPLNPVRVHIEIGPDGRVTG
EADVEFATHEDAVAAMSKDKANMQHRYVELFLNSTAGASGGAYGSQMLGGMGLSNQSSYGGPASQQLSGGYGGGYGGQSSMSGYDQVLQE

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

Top

Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr9:80412435/chr5:179045324)
- 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
GNAQ P50148	HNRNPH1 P31943
FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity). Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs). {ECO:0000250, ECO:0000269\|PubMed:27852822}.	FUNCTION: This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG). {ECO:0000269\|PubMed:11003644, ECO:0000269\|PubMed:16946708}.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
* Minus value of BPloci means that the break pointn is located before the CDS.

- Retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

GNAQ

chr9:80412435

chr5:179045324

ENST00000286548

180_186

201.66666666666666

360.0

Nucleotide binding

GTP

Hgene

GNAQ

chr9:80412435

chr5:179045324

ENST00000286548

46_53

201.66666666666666

360.0

Nucleotide binding

GTP

Hgene

GNAQ

chr9:80412435

chr5:179045324

ENST00000286548

178_186

201.66666666666666

360.0

Region

G2 motif

Hgene

GNAQ

chr9:80412435

chr5:179045324

ENST00000286548

41_54

201.66666666666666

360.0

Region

G1 motif

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000356731

289_364

178.66666666666666

130.66666666666666

Domain

RRM 3

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000393432

289_364

178.66666666666666

646.0

Domain

RRM 3

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000442819

289_364

178.66666666666666

655.6666666666666

Domain

RRM 3

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000356731

234_433

178.66666666666666

130.66666666666666

Region

Note=2 X 16 AA Gly-rich approximate repeats

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000356731

354_392

178.66666666666666

130.66666666666666

Region

Note=2 X 19 AA perfect repeats

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000393432

234_433

178.66666666666666

646.0

Region

Note=2 X 16 AA Gly-rich approximate repeats

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000393432

354_392

178.66666666666666

646.0

Region

Note=2 X 19 AA perfect repeats

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000442819

234_433

178.66666666666666

655.6666666666666

Region

Note=2 X 16 AA Gly-rich approximate repeats

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000442819

354_392

178.66666666666666

655.6666666666666

Region

Note=2 X 19 AA perfect repeats

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000356731

234_249

178.66666666666666

130.66666666666666

Repeat

Note=1-1

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000356731

354_372

178.66666666666666

130.66666666666666

Repeat

Note=2-1

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000356731

374_392

178.66666666666666

130.66666666666666

Repeat

Note=2-2

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000356731

418_433

178.66666666666666

130.66666666666666

Repeat

Note=1-2

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000393432

234_249

178.66666666666666

646.0

Repeat

Note=1-1

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000393432

354_372

178.66666666666666

646.0

Repeat

Note=2-1

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000393432

374_392

178.66666666666666

646.0

Repeat

Note=2-2

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000393432

418_433

178.66666666666666

646.0

Repeat

Note=1-2

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000442819

234_249

178.66666666666666

655.6666666666666

Repeat

Note=1-1

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000442819

354_372

178.66666666666666

655.6666666666666

Repeat

Note=2-1

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000442819

374_392

178.66666666666666

655.6666666666666

Repeat

Note=2-2

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000442819

418_433

178.66666666666666

655.6666666666666

Repeat

Note=1-2

- 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

GNAQ

chr9:80412435

chr5:179045324

ENST00000286548

38_359

201.66666666666666

360.0

Domain

G-alpha

Hgene

GNAQ

chr9:80412435

chr5:179045324

ENST00000286548

205_209

201.66666666666666

360.0

Nucleotide binding

GTP

Hgene

GNAQ

chr9:80412435

chr5:179045324

ENST00000286548

274_277

201.66666666666666

360.0

Nucleotide binding

GTP

Hgene

GNAQ

chr9:80412435

chr5:179045324

ENST00000286548

201_210

201.66666666666666

360.0

Region

G3 motif

Hgene

GNAQ

chr9:80412435

chr5:179045324

ENST00000286548

270_277

201.66666666666666

360.0

Region

G4 motif

Hgene

GNAQ

chr9:80412435

chr5:179045324

ENST00000286548

329_334

201.66666666666666

360.0

Region

G5 motif

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000356731

111_188

178.66666666666666

130.66666666666666

Domain

RRM 2

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000356731

11_90

178.66666666666666

130.66666666666666

Domain

RRM 1

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000393432

111_188

178.66666666666666

646.0

Domain

RRM 2

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000393432

11_90

178.66666666666666

646.0

Domain

RRM 1

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000442819

111_188

178.66666666666666

655.6666666666666

Domain

RRM 2

Tgene

HNRNPH1

chr9:80412435

chr5:179045324

ENST00000442819

11_90

178.66666666666666

655.6666666666666

Domain

RRM 1

Top

Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
GNAQ
HNRNPH1

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs to GNAQ-HNRNPH1

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to GNAQ-HNRNPH1

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source