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	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:GJA1-ASH2L

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: GJA1-ASH2L
	FusionPDB ID: 33164
	FusionGDB2.0 ID: 33164
		Hgene	Tgene
	Gene symbol	GJA1	ASH2L
	Gene ID	2697	9070
	Gene name	gap junction protein alpha 1	ASH2 like, histone lysine methyltransferase complex subunit
	Synonyms	AVSD3\|CMDR\|CX43\|EKVP\|EKVP3\|GJAL\|HLHS1\|HSS\|ODDD\|PPKCA	ASH2\|ASH2L1\|ASH2L2\|Bre2
	Cytomap	6q22.31	8p11.23
	Type of gene	protein-coding	protein-coding
	Description	gap junction alpha-1 proteinconnexin-43gap junction 43 kDa heart proteingap junction protein, alpha 1, 43kDa	set1/Ash2 histone methyltransferase complex subunit ASH2ASH2-like proteinash2 (absent, small, or homeotic)-like
	Modification date	20200329	20200313
	UniProtAcc	Q969M2	Q9UBL3
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000282561,	ENST00000524263, ENST00000250635, ENST00000343823, ENST00000428278, ENST00000521652, ENST00000545394,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	5 X 4 X 2=40	9 X 9 X 6=486
	# samples	5	9
	** MAII score	log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(9/486*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: GJA1 [Title/Abstract] AND ASH2L [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	GJA1(121768616)-ASH2L(37972483), # samples:1
Anticipated loss of major functional domain due to fusion event.	GJA1-ASH2L 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. GJA1-ASH2L 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. GJA1-ASH2L 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. GJA1-ASH2L 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
Hgene	GJA1	GO:0007165	signal transduction	1696265
Hgene	GJA1	GO:0007267	cell-cell signaling	1696265
Hgene	GJA1	GO:0010644	cell communication by electrical coupling	1696265\|16790700\|23348765
Hgene	GJA1	GO:0034220	ion transmembrane transport	1696265
Tgene	ASH2L	GO:0006974	cellular response to DNA damage stimulus	17500065
Tgene	ASH2L	GO:0043627	response to estrogen	16603732
Tgene	ASH2L	GO:0051568	histone H3-K4 methylation	17355966\|19556245

Fusion gene breakpoints across GJA1 (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 ASH2L (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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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
ChiTaRS5.0	N/A	BI045629	GJA1	chr6	121768616	-	ASH2L	chr8	37972483	+

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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)
ENST00000282561	GJA1	chr6	121768616	-	ENST00000343823	ASH2L	chr8	37972483	+	4437	2398	2424	3542	372
ENST00000282561	GJA1	chr6	121768616	-	ENST00000250635	ASH2L	chr8	37972483	+	4080	2398	2424	3443	339
ENST00000282561	GJA1	chr6	121768616	-	ENST00000545394	ASH2L	chr8	37972483	+	3995	2398	2424	3542	372
ENST00000282561	GJA1	chr6	121768616	-	ENST00000428278	ASH2L	chr8	37972483	+	4175	2398	2424	3542	372
ENST00000282561	GJA1	chr6	121768616	-	ENST00000521652	ASH2L	chr8	37972483	+	4076	2398	2424	3443	339

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
ENST00000282561	ENST00000343823	GJA1	chr6	121768616	-	ASH2L	chr8	37972483	+	0.000949073	0.9990509
ENST00000282561	ENST00000250635	GJA1	chr6	121768616	-	ASH2L	chr8	37972483	+	0.002217841	0.9977822
ENST00000282561	ENST00000545394	GJA1	chr6	121768616	-	ASH2L	chr8	37972483	+	0.000656934	0.9993431
ENST00000282561	ENST00000428278	GJA1	chr6	121768616	-	ASH2L	chr8	37972483	+	0.000754024	0.999246
ENST00000282561	ENST00000521652	GJA1	chr6	121768616	-	ASH2L	chr8	37972483	+	0.001695064	0.99830496

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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

>33164_33164_1_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000250635_length(amino acids)=339AA_BP=
MDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILA
EPDPHAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAA
RLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFV

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

>33164_33164_2_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000343823_length(amino acids)=372AA_BP=
MDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILA
EPDPHAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAA
RLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFV
DKAEKSLKQTPHSEIIFYKNGVNQGVAYKDIFEGVYFPAISLYKSCTVSINFGPCFKYPPKDLTYRPMSDMGWGAVVEHTLADVLYHVET

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

>33164_33164_3_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000428278_length(amino acids)=372AA_BP=
MDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILA
EPDPHAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAA
RLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFV
DKAEKSLKQTPHSEIIFYKNGVNQGVAYKDIFEGVYFPAISLYKSCTVSINFGPCFKYPPKDLTYRPMSDMGWGAVVEHTLADVLYHVET

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

>33164_33164_4_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000521652_length(amino acids)=339AA_BP=
MDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILA
EPDPHAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAA
RLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFV

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

>33164_33164_5_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000545394_length(amino acids)=372AA_BP=
MDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILA
EPDPHAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAA
RLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFV
DKAEKSLKQTPHSEIIFYKNGVNQGVAYKDIFEGVYFPAISLYKSCTVSINFGPCFKYPPKDLTYRPMSDMGWGAVVEHTLADVLYHVET

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

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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/chr6:121768616/chr8:37972483)
- 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
GJA1 Q969M2	ASH2L Q9UBL3
FUNCTION: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. Involved in tracer coupling between horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning (By similarity). {ECO:0000250}.	FUNCTION: Transcriptional regulator (PubMed:12670868). Component or associated component of some histone methyltransferase complexes which regulates transcription through recruitment of those complexes to gene promoters (PubMed:19131338). Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated (PubMed:19556245). As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3 (PubMed:19556245). May play a role in hematopoiesis (PubMed:12670868). In association with RBBP5 and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B (PubMed:21220120, PubMed:22266653). {ECO:0000269\|PubMed:12670868, ECO:0000269\|PubMed:19131338, ECO:0000269\|PubMed:19556245, ECO:0000269\|PubMed:21220120, ECO:0000269\|PubMed:22266653}.

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

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000250635

360_583

502.0

Domain

B30.2/SPRY

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000343823

360_583

629.0

Domain

B30.2/SPRY

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000428278

360_583

535.0

Domain

B30.2/SPRY

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000521652

360_583

502.0

Domain

B30.2/SPRY

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000250635

67_177

502.0

Region

Note=DNA-binding

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000343823

67_177

629.0

Region

Note=DNA-binding

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000428278

67_177

535.0

Region

Note=DNA-binding

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000521652

67_177

502.0

Region

Note=DNA-binding

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000250635

117_150

502.0

Zinc finger

Note=C4-type

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000250635

1_66

502.0

Zinc finger

Note=PHD-type%3B atypical

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000343823

117_150

629.0

Zinc finger

Note=C4-type

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000343823

1_66

629.0

Zinc finger

Note=PHD-type%3B atypical

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000428278

117_150

535.0

Zinc finger

Note=C4-type

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000428278

1_66

535.0

Zinc finger

Note=PHD-type%3B atypical

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000521652

117_150

502.0

Zinc finger

Note=C4-type

Tgene

ASH2L

chr6:121768616

chr8:37972483

ENST00000521652

1_66

502.0

Zinc finger

Note=PHD-type%3B atypical

- 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

GJA1

chr6:121768616

chr8:37972483

ENST00000282561

177_207

383.0

Topological domain

Extracellular

Hgene

GJA1

chr6:121768616

chr8:37972483

ENST00000282561

229_382

383.0

Topological domain

Cytoplasmic

Hgene

GJA1

chr6:121768616

chr8:37972483

ENST00000282561

2_23

383.0

Topological domain

Cytoplasmic

Hgene

GJA1

chr6:121768616

chr8:37972483

ENST00000282561

45_76

383.0

Topological domain

Extracellular

Hgene

GJA1

chr6:121768616

chr8:37972483

ENST00000282561

98_155

383.0

Topological domain

Cytoplasmic

Hgene

GJA1

chr6:121768616

chr8:37972483

ENST00000282561

156_176

383.0

Transmembrane

Helical

Hgene

GJA1

chr6:121768616

chr8:37972483

ENST00000282561

208_228

383.0

Transmembrane

Helical

Hgene

GJA1

chr6:121768616

chr8:37972483

ENST00000282561

24_44

383.0

Transmembrane

Helical

Hgene

GJA1

chr6:121768616

chr8:37972483

ENST00000282561

77_97

383.0

Transmembrane

Helical

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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
GJA1
ASH2L

- 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
Hgene	GJA1	chr6:121768616	chr8:37972483	ENST00000282561	-	1	2	244_382	0	383.0	NOV
Hgene	GJA1	chr6:121768616	chr8:37972483	ENST00000282561	-	1	2	264_382	0	383.0	UBQLN4

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Related Drugs to GJA1-ASH2L

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

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to GJA1-ASH2L

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