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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:ASH1L-FAM78B

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ASH1L-FAM78B
	FusionPDB ID: 7090
	FusionGDB2.0 ID: 7090
		Hgene	Tgene
	Gene symbol	ASH1L	FAM78B
	Gene ID	55870	149297
	Gene name	ASH1 like histone lysine methyltransferase	family with sequence similarity 78 member B
	Synonyms	ASH1\|ASH1L1\|KMT2H\|MRD52	-
	Cytomap	1q22	1q24.1
	Type of gene	protein-coding	protein-coding
	Description	histone-lysine N-methyltransferase ASH1LASH1-like proteinabsent small and homeotic disks protein 1 homologash1 (absent, small, or homeotic)-likelysine N-methyltransferase 2Hprobable histone-lysine N-methyltransferase ASH1L	protein FAM78B
	Modification date	20200313	20200313
	UniProtAcc	Q9NR48	Q5VT40
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000368346, ENST00000392403, ENST00000548830,	ENST00000354422, ENST00000338353,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	36 X 20 X 14=10080	4 X 2 X 4=32
	# samples	44	4
	** MAII score	log2(44/10080*10)=-4.51784830486262 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ASH1L [Title/Abstract] AND FAM78B [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ASH1L(155365250)-FAM78B(166040000), # samples:3
Anticipated loss of major functional domain due to fusion event.	ASH1L-FAM78B 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. ASH1L-FAM78B 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. ASH1L-FAM78B 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. ASH1L-FAM78B 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. ASH1L-FAM78B seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. ASH1L-FAM78B seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ASH1L-FAM78B seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. ASH1L-FAM78B seems lost the major protein functional domain in Hgene partner, which is a transcription factor 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
Hgene	ASH1L	GO:0097676	histone H3-K36 dimethylation	26002201

Fusion gene breakpoints across ASH1L (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 FAM78B (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
ChimerDB4	BRCA	TCGA-AR-A0TT-01A	ASH1L	chr1	155365250	-	FAM78B	chr1	166040000	-

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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)
ENST00000368346	ASH1L	chr1	155365250	-	ENST00000338353	FAM78B	chr1	166040000	-	7487	6743	640	6768	2042
ENST00000392403	ASH1L	chr1	155365250	-	ENST00000338353	FAM78B	chr1	166040000	-	7326	6582	479	6607	2042

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
ENST00000368346	ENST00000338353	ASH1L	chr1	155365250	-	FAM78B	chr1	166040000	-	0.001437435	0.99856263
ENST00000392403	ENST00000338353	ASH1L	chr1	155365250	-	FAM78B	chr1	166040000	-	0.001222382	0.99877757

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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

>7090_7090_1_ASH1L-FAM78B_ASH1L_chr1_155365250_ENST00000368346_FAM78B_chr1_166040000_ENST00000338353_length(amino acids)=2042AA_BP=
MDPRNTAMLGLGSDSEGFSRKSPSAISTGTLVSKREVELEKNTKEEEDLRKRNRERNIEAGKDDGLTDAQQQFSVKETNFSEGNLKLKIG
LQAKRTKKPPKNLENYVCRPAIKTTIKHPRKALKSGKMTDEKNEHCPSKRDPSKLYKKADDVAAIECQSEEVIRLHSQGENNPLSKKLSP
VHSEMADYINATPSTLLGSRDPDLKDRALLNGGTSVTEKLAQLIATCPPSKSSKTKPKKLGTGTTAGLVSKDLIRKAGVGSVAGIIHKDL
IKKPTISTAVGLVTKDPGKKPVFNAAVGLVNKDSVKKLGTGTTAVFINKNLGKKPGTITTVGLLSKDSGKKLGIGIVPGLVHKESGKKLG
LGTVVGLVNKDLGKKLGSTVGLVAKDCAKKIVASSAMGLVNKDIGKKLMSCPLAGLISKDAINLKAEALLPTQEPLKASCSTNINNQESQ
ELSESLKDSATSKTFEKNVVRQNKESILEKFSVRKEIINLEKEMFNEGTCIQQDSFSSSEKGSYETSKHEKQPPVYCTSPDFKMGGASDV
STAKSPFSAVGESNLPSPSPTVSVNPLTRSPPETSSQLAPNPLLLSSTTELIEEISESVGKNQFTSESTHLNVGHRSVGHSISIECKGID
KEVNDSKTTHIDIPRISSSLGKKPSLTSESSIHTITPSVVNFTSLFSNKPFLKLGAVSASDKHCQVAESLSTSLQSKPLKKRKGRKPRWT
KVVARSTCRSPKGLELERSELFKNVSCSSLSNSNSEPAKFMKNIGPPSFVDHDFLKRRLPKLSKSTAPSLALLADSEKPSHKSFATHKLS
SSMCVSSDLLSDIYKPKRGRPKSKEMPQLEGPPKRTLKIPASKVFSLQSKEEQEPPILQPEIEIPSFKQGLSVSPFPKKRGRPKRQMRSP
VKMKPPVLSVAPFVATESPSKLESESDNHRSSSDFFESEDQLQDPDDLDDSHRPSVCSMSDLEMEPDKKITKRNNGQLMKTIIRKINKMK
TLKRKKLLNQILSSSVESSNKGKVQSKLHNTVSSLAATFGSKLGQQINVSKKGTIYIGKRRGRKPKTVLNGILSGSPTSLAVLEQTAQQA
AGSALGQILPPLLPSSASSSEILPSPICSQSSGTSGGQSPVSSDAGFVEPSSVPYLHLHSRQGSMIQTLAMKKASKGRRRLSPPTLLPNS
PSHLSELTSLKEATPSPISESHSDETIPSDSGIGTDNNSTSDRAEKFCGQKKRRHSFEHVSLIPPETSTVLSSLKEKHKHKCKRRNHDYL
SYDKMKRQKRKRKKKYPQLRNRQDPDFIAELEELISRLSEIRITHRSHHFIPRDLLPTIFRINFNSFYTHPSFPLDPLHYIRKPDLKKKR
GRPPKMREAMAEMPFMHSLSFPLSSTGFYPSYGMPYSPSPLTAAPIGLGYYGRYPPTLYPPPPSPSFTTPLPPPSYMHAGHLLLNPAKYH
KKKHKLLRQEAFLTTSRTPLLSMSTYPSVPPEMAYGWMVEHKHRHRHKHREHRSSEQPQVSMDTGSSRSVLESLKRYRFGKDAVGERYKH
KEKHRCHMSCPHLSPSKSLINREEQWVHREPSESSPLALGLQTPLQIDCSESSPSLSLGGFTPNSEPASSDEHTNLFTSAIGSCRVSNPN
SSGRKKLTDSPGLFSAQDTSLNRLHRKESLPSNERAVQTLAGSQPTSDKPSQRPSESTNCSPTRKRSSSESTSSTVNGVPSRSPRLVASG
DDSVDSLLQRMVQNEDQEPMEKSIDAVIATASAPPSSSPGRSHSKDRTLGKPDSLLVPAVTSDSCNNSISLLSEKLTSSCSPHHIKRSVV
EAMQRQARKMCNYDKILATKKNLDHVNKILKAKKLQRQARTGNNFVKRRPGRPRKCPLQAVVSMQAFQAAQFVNPELNRDEEGAALHLSP
DTVTDVIEAVVQSVNLNPEHKKGLKRKGWLLEEQTRKKQKPLPEEEEQENNKSFNEAPVEIPSPSETPAKPSEPESTLQPVLSLIPREKK

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

>7090_7090_2_ASH1L-FAM78B_ASH1L_chr1_155365250_ENST00000392403_FAM78B_chr1_166040000_ENST00000338353_length(amino acids)=2042AA_BP=
MDPRNTAMLGLGSDSEGFSRKSPSAISTGTLVSKREVELEKNTKEEEDLRKRNRERNIEAGKDDGLTDAQQQFSVKETNFSEGNLKLKIG
LQAKRTKKPPKNLENYVCRPAIKTTIKHPRKALKSGKMTDEKNEHCPSKRDPSKLYKKADDVAAIECQSEEVIRLHSQGENNPLSKKLSP
VHSEMADYINATPSTLLGSRDPDLKDRALLNGGTSVTEKLAQLIATCPPSKSSKTKPKKLGTGTTAGLVSKDLIRKAGVGSVAGIIHKDL
IKKPTISTAVGLVTKDPGKKPVFNAAVGLVNKDSVKKLGTGTTAVFINKNLGKKPGTITTVGLLSKDSGKKLGIGIVPGLVHKESGKKLG
LGTVVGLVNKDLGKKLGSTVGLVAKDCAKKIVASSAMGLVNKDIGKKLMSCPLAGLISKDAINLKAEALLPTQEPLKASCSTNINNQESQ
ELSESLKDSATSKTFEKNVVRQNKESILEKFSVRKEIINLEKEMFNEGTCIQQDSFSSSEKGSYETSKHEKQPPVYCTSPDFKMGGASDV
STAKSPFSAVGESNLPSPSPTVSVNPLTRSPPETSSQLAPNPLLLSSTTELIEEISESVGKNQFTSESTHLNVGHRSVGHSISIECKGID
KEVNDSKTTHIDIPRISSSLGKKPSLTSESSIHTITPSVVNFTSLFSNKPFLKLGAVSASDKHCQVAESLSTSLQSKPLKKRKGRKPRWT
KVVARSTCRSPKGLELERSELFKNVSCSSLSNSNSEPAKFMKNIGPPSFVDHDFLKRRLPKLSKSTAPSLALLADSEKPSHKSFATHKLS
SSMCVSSDLLSDIYKPKRGRPKSKEMPQLEGPPKRTLKIPASKVFSLQSKEEQEPPILQPEIEIPSFKQGLSVSPFPKKRGRPKRQMRSP
VKMKPPVLSVAPFVATESPSKLESESDNHRSSSDFFESEDQLQDPDDLDDSHRPSVCSMSDLEMEPDKKITKRNNGQLMKTIIRKINKMK
TLKRKKLLNQILSSSVESSNKGKVQSKLHNTVSSLAATFGSKLGQQINVSKKGTIYIGKRRGRKPKTVLNGILSGSPTSLAVLEQTAQQA
AGSALGQILPPLLPSSASSSEILPSPICSQSSGTSGGQSPVSSDAGFVEPSSVPYLHLHSRQGSMIQTLAMKKASKGRRRLSPPTLLPNS
PSHLSELTSLKEATPSPISESHSDETIPSDSGIGTDNNSTSDRAEKFCGQKKRRHSFEHVSLIPPETSTVLSSLKEKHKHKCKRRNHDYL
SYDKMKRQKRKRKKKYPQLRNRQDPDFIAELEELISRLSEIRITHRSHHFIPRDLLPTIFRINFNSFYTHPSFPLDPLHYIRKPDLKKKR
GRPPKMREAMAEMPFMHSLSFPLSSTGFYPSYGMPYSPSPLTAAPIGLGYYGRYPPTLYPPPPSPSFTTPLPPPSYMHAGHLLLNPAKYH
KKKHKLLRQEAFLTTSRTPLLSMSTYPSVPPEMAYGWMVEHKHRHRHKHREHRSSEQPQVSMDTGSSRSVLESLKRYRFGKDAVGERYKH
KEKHRCHMSCPHLSPSKSLINREEQWVHREPSESSPLALGLQTPLQIDCSESSPSLSLGGFTPNSEPASSDEHTNLFTSAIGSCRVSNPN
SSGRKKLTDSPGLFSAQDTSLNRLHRKESLPSNERAVQTLAGSQPTSDKPSQRPSESTNCSPTRKRSSSESTSSTVNGVPSRSPRLVASG
DDSVDSLLQRMVQNEDQEPMEKSIDAVIATASAPPSSSPGRSHSKDRTLGKPDSLLVPAVTSDSCNNSISLLSEKLTSSCSPHHIKRSVV
EAMQRQARKMCNYDKILATKKNLDHVNKILKAKKLQRQARTGNNFVKRRPGRPRKCPLQAVVSMQAFQAAQFVNPELNRDEEGAALHLSP
DTVTDVIEAVVQSVNLNPEHKKGLKRKGWLLEEQTRKKQKPLPEEEEQENNKSFNEAPVEIPSPSETPAKPSEPESTLQPVLSLIPREKK

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

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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/chr1:155365250/chr1:166040000)
- 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
ASH1L Q9NR48	FAM78B Q5VT40
FUNCTION: Histone methyltransferase specifically trimethylating 'Lys-36' of histone H3 forming H3K36me3 (PubMed:21239497). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity). {ECO:0000250\|UniProtKB:Q99MY8, ECO:0000269\|PubMed:21239497}.

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

ASH1L

chr1:155365250

chr1:166040000

ENST00000368346

1380_1424

2034.3333333333333

2970.0

Compositional bias

Note=Pro-rich

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000368346

1580_1791

2034.3333333333333

2970.0

Compositional bias

Note=Ser-rich

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000392403

1380_1424

2034.3333333333333

2965.0

Compositional bias

Note=Pro-rich

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000392403

1580_1791

2034.3333333333333

2965.0

Compositional bias

Note=Ser-rich

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000368346

1347_1359

2034.3333333333333

2970.0

DNA binding

Note=A.T hook 2

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000368346

1847_1859

2034.3333333333333

2970.0

DNA binding

Note=A.T hook 3

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000368346

887_899

2034.3333333333333

2970.0

DNA binding

Note=A.T hook 1

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000392403

1347_1359

2034.3333333333333

2965.0

DNA binding

Note=A.T hook 2

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000392403

1847_1859

2034.3333333333333

2965.0

DNA binding

Note=A.T hook 3

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000392403

887_899

2034.3333333333333

2965.0

DNA binding

Note=A.T hook 1

- 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

ASH1L

chr1:155365250

chr1:166040000

ENST00000368346

2091_2142

2034.3333333333333

2970.0

Domain

AWS

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000368346

2145_2261

2034.3333333333333

2970.0

Domain

SET

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000368346

2269_2285

2034.3333333333333

2970.0

Domain

Post-SET

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000368346

2463_2533

2034.3333333333333

2970.0

Domain

Bromo

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000368346

2661_2798

2034.3333333333333

2970.0

Domain

BAH

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000392403

2091_2142

2034.3333333333333

2965.0

Domain

AWS

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000392403

2145_2261

2034.3333333333333

2965.0

Domain

SET

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000392403

2269_2285

2034.3333333333333

2965.0

Domain

Post-SET

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000392403

2463_2533

2034.3333333333333

2965.0

Domain

Bromo

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000392403

2661_2798

2034.3333333333333

2965.0

Domain

BAH

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000368346

2069_2288

2034.3333333333333

2970.0

Region

Note=Catalytic domain

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000392403

2069_2288

2034.3333333333333

2965.0

Region

Note=Catalytic domain

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000368346

2585_2631

2034.3333333333333

2970.0

Zinc finger

Note=PHD-type

Hgene

ASH1L

chr1:155365250

chr1:166040000

ENST00000392403

2585_2631

2034.3333333333333

2965.0

Zinc finger

Note=PHD-type

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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
ASH1L
FAM78B

- 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

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Related Drugs to ASH1L-FAM78B

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 ASH1L-FAM78B

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