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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:MAML2-BCAS4 (FusionGDB2 ID:HG84441TG55653)

Fusion Gene Summary for MAML2-BCAS4

Fusion gene summary

Fusion gene information	Fusion gene name: MAML2-BCAS4
	Fusion gene ID: hg84441tg55653
		Hgene	Tgene
	Gene symbol	MAML2	BCAS4
	Gene ID	84441	55653
	Gene name	mastermind like transcriptional coactivator 2	breast carcinoma amplified sequence 4
	Synonyms	MAM-3\|MAM2\|MAM3\|MLL-MAML2	CNOL
	Cytomap	('MAML2')('BCAS4') 11q21	20q13.13
	Type of gene	protein-coding	protein-coding
	Description	mastermind-like protein 2mam-2mastermind-like 2	breast carcinoma-amplified sequence 4BCAS4/BCAS3 fusionbreast carcinoma amplified sequence 4/3 fusion protein
	Modification date	20200313	20200313
	UniProtAcc	Q8IZL2	Q8TDM0
	Ensembl transtripts involved in fusion gene	ENST00000524717,
Fusion gene scores	* DoF score	16 X 15 X 8=1920	11 X 8 X 9=792
	# samples	20	11
	** MAII score	log2(20/1920*10)=-3.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/792*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: MAML2 [Title/Abstract] AND BCAS4 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	MAML2(95825056)-BCAS4(49458303), # samples:1 MAML2(95825056)-BCAS4(49493023), # samples:1
Anticipated loss of major functional domain due to fusion event.	MAML2-BCAS4 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. MAML2-BCAS4 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. MAML2-BCAS4 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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	MAML2	GO:0007219	Notch signaling pathway	12370315
Hgene	MAML2	GO:0045944	positive regulation of transcription by RNA polymerase II	12370315

Fusion gene breakpoints across MAML2 (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 BCAS4 (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	PCPG	TCGA-WB-A81K-01A	MAML2	chr11	95825056	-	BCAS4	chr20	49458303	+
ChimerDB4	PCPG	TCGA-WB-A81K-01A	MAML2	chr11	95825056	-	BCAS4	chr20	49493023	+

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Fusion Gene ORF analysis for MAML2-BCAS4

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
5CDS-intron	ENST00000524717	ENST00000262591	MAML2	chr11	95825056	-	BCAS4	chr20	49458303	+
5CDS-intron	ENST00000524717	ENST00000371608	MAML2	chr11	95825056	-	BCAS4	chr20	49458303	+
5CDS-intron	ENST00000524717	ENST00000485049	MAML2	chr11	95825056	-	BCAS4	chr20	49458303	+
5CDS-intron	ENST00000524717	ENST00000485049	MAML2	chr11	95825056	-	BCAS4	chr20	49493023	+
5CDS-intron	ENST00000524717	ENST00000609336	MAML2	chr11	95825056	-	BCAS4	chr20	49458303	+
Frame-shift	ENST00000524717	ENST00000262591	MAML2	chr11	95825056	-	BCAS4	chr20	49493023	+
Frame-shift	ENST00000524717	ENST00000371608	MAML2	chr11	95825056	-	BCAS4	chr20	49493023	+
Frame-shift	ENST00000524717	ENST00000609336	MAML2	chr11	95825056	-	BCAS4	chr20	49493023	+
In-frame	ENST00000524717	ENST00000358791	MAML2	chr11	95825056	-	BCAS4	chr20	49458303	+
In-frame	ENST00000524717	ENST00000358791	MAML2	chr11	95825056	-	BCAS4	chr20	49493023	+

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)

ENST00000524717

MAML2

chr11

95825056

ENST00000358791

BCAS4

chr20

49458303

4348

3424

1285

3705

806

ENST00000524717

MAML2

chr11

95825056

ENST00000358791

BCAS4

chr20

49493023

4116

3424

1285

3546

753

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
ENST00000524717	ENST00000358791	MAML2	chr11	95825056	-	BCAS4	chr20	49458303	+	0.01120599	0.988794
ENST00000524717	ENST00000358791	MAML2	chr11	95825056	-	BCAS4	chr20	49493023	+	0.010944713	0.9890553

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Fusion Genomic Features for MAML2-BCAS4

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 MAML2-BCAS4

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:95825056/chr20:49458303)
- 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
MAML2 Q8IZL2	BCAS4 Q8TDM0
FUNCTION: Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3. {ECO:0000269\|PubMed:12370315, ECO:0000269\|PubMed:12386158, ECO:0000269\|PubMed:12539049}.

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

- 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

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Fusion Gene Sequence for MAML2-BCAS4

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.

>51001_51001_1_MAML2-BCAS4_MAML2_chr11_95825056_ENST00000524717_BCAS4_chr20_49458303_ENST00000358791_length(transcript)=4348nt_BP=3424nt
CTCCCTCTCCTATCGGAGCACAATGAAAGCCTGTGTATCGCCGTGACTCCGGGCGCGAGCCAGTGTCAGCAAAGCGGCTAACAACAGACG
AGAAAGAGAAAGGAAAATACAAGCTACTTTTTTTTTCCATCTATAAAGCGGAGCAAATACAGGAGATAGAACCAGATTGCTTATTGCGAG
TCCAGACCCTCAGATCCACTGGCCGGGGATGGAATGTACAAAAGTGGACAGAAAAGTGGCTGGACATGACTCGGTGCAATTTGCTGGAAG
TTTGTAAGTTTGACCATCGTTTGTAAATTACTCTCGGAAGAGTTTGTCTCTCTTGATACTGTATTAGAATAGAGCCGGGGGTGAGGAATA
GAAACGTAAGCGGGAAAGAAAAAAATGTGTTGAAGGATCTCTCTCAGTGGCTAGCGACTTAAGATTGCTTTTCATTTAAGGCTAGGAAAC
CTTAGAGGGAGTGAGGATTTTACCGGTGATTGGATTAGCTGAAGAAAAAAGCATGGTCCAAAAGTCCAATTACTGACATTGTTAACAGTT
GAAAAGCTGTCTCCCTCTTTTGGGAGAAGACAACATCCTACAGTACCCCAAAGAGGAGAAAACACCGGAGCGAAAGGAAAGGGAGGAAAA
ATTAAAAGCCAAAAGACAGTCTCCCTTGATTTTTGCACATTTTGAACAGTGACTTAAACATCTTCTGAAACAGCACTGTTTTGTTTTGTT
TTGGTTTTTTATTTAACCTGAGGAAAAGTCAAGGCTGCTGGTTACATAGACATGGTAGAAATGTGTTTCTCTGCAGAAACATCCCCATAA
AGAATTGTCGGAAACAACTAGGTGAGGGGGAGTCCTCTCTATTAATACCTCTCTCAATACCTTTTGCTGTGTGTTTCTGTCTCTTGCTGG
ACAATCCCTGAATTCTTGATCTAACCCCCAGATCGTGTGTTTACAAAGTACCTAGTGGCTCTTGTCAGCTTGGTGGAGGAAAAAAAATCC
ACCAACTCTGTCCAACTTCTCCAGAGCTGTCAAATGCAATTAGAGTAAGTTAATCAGGGTTTGTTTCCAACTTATCCTCCCCCCAGTTGG
TTTCTATTCTTTCTCCCCACCCTCTTTTTACTAACTCCCCTCCCCCACAACTTCTCCACGGCTCCCCCACAACCTCTGAAGACCTCTATT
CATGTGGCCCTGAACACTGAGCTCACATTGTCAAAAACAGACTTGCCTGCAATAGCCAGCAGTAGCCTCTTTCCACCTCACCATCCCAGA
GGCAGCAATCATTGTGTCCGGTAAGATGGGGGACACAGCGCCCCCGCAGGCCCCCGCAGGAGGGCTAGGGGGGGCCTCTGGGGCGGGGCT
CCTTGGAGGGGGCTCAGTCACCCCGAGAGTGCACAGTGCTATCGTGGAGCGCCTCCGGGCTCGGATCGCTGTCTGCCGCCAACACCACCT
GAGCTGTGAAGGACGATATGAACGAGGTAGGGCCGAGAGCTCAGACCGGGAAAGAGAAAGCACCTTGCAGCTCCTGAGCCTTGTACAGCA
TGGCCAGGGGGCAAGGAAAGCTGGCAAACACACCAAGGCCACCGCCACTGCTGCCACCACTACAGCCCCTCCACCGCCCCCTGCTGCCCC
TCCTGCGGCCTCCCAAGCAGCAGCAACAGCAGCCCCACCGCCCCCACCAGACTATCACCATCACCACCAGCAGCACCTGCTGAACAGTAG
CAATAATGGTGGCAGTGGTGGGATAAACGGAGAGCAGCAGCCGCCCGCTTCAACCCCAGGGGACCAGAGGAACTCAGCCCTGATTGCGCT
CCAGGGTTCCTTGAAAAGAAAACAGGTAGTTAACCTATCTCCTGCCAACAGCAAGCGACCCAATGGCTTTGTGGACAACTCATTTCTTGA
TATCAAAAGAATTCGTGTTGGGGAGAATCTCTCTGCAGGACAAGGTGGCCTCCAAATAAACAATGGACAAAGTCAGATTATGTCAGGGAC
CTTGCCTATGAGCCAAGCACCCCTGCGAAAGACTAACACTCTGCCATCCCATACACATTCTCCTGGCAATGGCCTGTTTAACATGGGCTT
AAAGGAGGTAAAGAAGGAGCCAGGAGAGACTCTGTCTTGCAGTAAGCACATGGATGGCCAAATGACCCAAGAGAATATTTTTCCTAATAG
GTACGGAGACGACCCTGGAGAACAACTGATGGATCCTGAGCTGCAGGAACTGTTCAATGAACTGACCAACATATCTGTGCCTCCCATGAG
TGACCTTGAACTGGAGAACATGATCAATGCCACCATAAAGCAGGATGACCCATTTAACATTGACTTGGGTCAGCAAAGCCAGAGGAGCAC
ACCTAGGCCCTCCTTACCCATGGAGAAAATAGTGATCAAAAGTGAATACTCACCGGGCTTGACTCAGGGCCCCTCAGGCTCTCCTCAGCT
GAGGCCCCCATCAGCTGGCCCCGCATTCTCCATGGCCAACTCTGCCCTCTCCACTTCGTCTCCAATCCCTTCAGTCCCTCAGAGCCAGGC
TCAGCCTCAGACAGGCTCCGGAGCAAGCCGGGCCTTGCCAAGCTGGCAGGAAGTATCCCATGCCCAGCAGCTCAAACAGATAGCTGCTAA
TCGTCAGCAGCATGCCCGGATGCAGCAGCACCAGCAGCAGCACCAGCCTACCAACTGGTCAGCCTTGCCCTCTTCTGCTGGACCATCACC
AGGTCCATTTGGGCAGGAGAAAATCCCCAGCCCTTCTTTTGGTCAGCAGACATTCAGCCCACAGAGCTCCCCCATGCCTGGGGTAGCTGG
CGGCAGCGGCCAGTCGAAAGTAATGGCTAACTACATGTACAAGGCCGGCCCCTCAGCCCAGGGTGGGCACCTAGATGTCCTCATGCAGCA
AAAGCCTCAGGATCTCAGTCGAAGTTTTATTAACAACCCGCACCCAGCCATGGAGCCCCGTCAGGGCAACACCAAGCCTTTGTTTCATTT
TAACTCAGATCAAGCGAACCAGCAGATGCCTTCTGTTTTGCCTTCCCAGAACAAGCCTTCTCTCCTACACTACACCCAACAGCAACAGCA
GCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAACAGCAACAGCAGAG
TTCAATTTCAGCTCAACAACAGCAACAGCAGCAGAGCTCAATTTCAGCCCAACAGCAGCAGCAGCAGCAACAACAGCAGCAGCAGCAGCA
ACAACAACAGCAACAACAGCAGCAGCAGCAGCAGCAACAACCATCTTCTCAGCCTGCCCAATCTCTACCAAGCCAGCCTTTGCTAAGGTC
ACCTTTGCCACTTCAGCAAAAGCTCCTACTTCAGCAAATGCAGAATCAGCCCATTGCAGGAATGGGATACCAAGTCTCCCAACAACAGAG
ACAGGCCTTCGTCAAGATGGTTGGACACCACGTCGCCTTCCTGGAAGCAGACGTGCTTCAGGCTGAGCGGGACCATGGGGCCTTCCCTCA
GGCCCTGCGGAGGTGGCTGGGATCCGCAGGGCTCCCCTCCTTCAGGAACGTGGAGTGCAGTGGCACAATCCCAGCTCGCTGCAACCTCCG
CCTCCCGGGTTCAAGTGATTCTCCTGCCTCCGCCTCCCAAGTAGCTGGGATTACAGAAGTCACCTGCACCGGTGCCCGTGACGTACGAGC
TGCCCACACTGTATAGGACGGAGGACTATTTTCCTGTGGACGCCGGGGAAGCACAGCACCACCCCCGCACCTGCCCTCGGCCTTTGTGAG
CTTTGTGGTCTTCCCATCAGGAACGCTGGAAAGTGACATTGTGTACACACTGCAGCTTGGGGGTTTTTTCTTTGTATTGCTGTTTATTTT
ATATTTTAAAAATATTTAAAAAAATGTCGAGATGGGGTCTCACTATGTTGTCCAGACTGATCTCAAACTCCTGGGCTCAAGTGATCCACC
CACCTTGGCCTTCCAAAGTGGTGGGATTATGGGCAGGAGCCTCCGTGCCCAGGCTGCTGCCATTTTCAAATTTCCTCCCTGCCTCATGTG
AGACCACAGGGTTTGGAGAAGCAGTTGGAACCCACGTGTGGTGATGCCTCCCACATCGGCCTGCTTGGGGTTCTACAGGGGTTGAGGGAC
CAGGCCTGGCCGGGGCTGATGGACAGTGGGGACTTTCCTTCTCTCCATGATGGCTTTGCAGGGGCTCCATGGTCCTTCTCTCTGTGATGG
GTTTTTGCACGGGGTGTGCTCTGCCACTGTGGTGGGTGGGTGGATGCTGCTTCTGTTGCCTCCAGACCTCGGTGCCCACAGCCTTGAGGA

>51001_51001_1_MAML2-BCAS4_MAML2_chr11_95825056_ENST00000524717_BCAS4_chr20_49458303_ENST00000358791_length(amino acids)=806AA_BP=3
MGDTAPPQAPAGGLGGASGAGLLGGGSVTPRVHSAIVERLRARIAVCRQHHLSCEGRYERGRAESSDRERESTLQLLSLVQHGQGARKAG
KHTKATATAATTTAPPPPPAAPPAASQAAATAAPPPPPDYHHHHQQHLLNSSNNGGSGGINGEQQPPASTPGDQRNSALIALQGSLKRKQ
VVNLSPANSKRPNGFVDNSFLDIKRIRVGENLSAGQGGLQINNGQSQIMSGTLPMSQAPLRKTNTLPSHTHSPGNGLFNMGLKEVKKEPG
ETLSCSKHMDGQMTQENIFPNRYGDDPGEQLMDPELQELFNELTNISVPPMSDLELENMINATIKQDDPFNIDLGQQSQRSTPRPSLPME
KIVIKSEYSPGLTQGPSGSPQLRPPSAGPAFSMANSALSTSSPIPSVPQSQAQPQTGSGASRALPSWQEVSHAQQLKQIAANRQQHARMQ
QHQQQHQPTNWSALPSSAGPSPGPFGQEKIPSPSFGQQTFSPQSSPMPGVAGGSGQSKVMANYMYKAGPSAQGGHLDVLMQQKPQDLSRS
FINNPHPAMEPRQGNTKPLFHFNSDQANQQMPSVLPSQNKPSLLHYTQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQSSISAQQQQ
QQQSSISAQQQQQQQQQQQQQQQQQQQQQQQQQQQPSSQPAQSLPSQPLLRSPLPLQQKLLLQQMQNQPIAGMGYQVSQQQRQAFVKMVG

--------------------------------------------------------------
>51001_51001_2_MAML2-BCAS4_MAML2_chr11_95825056_ENST00000524717_BCAS4_chr20_49493023_ENST00000358791_length(transcript)=4116nt_BP=3424nt
CTCCCTCTCCTATCGGAGCACAATGAAAGCCTGTGTATCGCCGTGACTCCGGGCGCGAGCCAGTGTCAGCAAAGCGGCTAACAACAGACG
AGAAAGAGAAAGGAAAATACAAGCTACTTTTTTTTTCCATCTATAAAGCGGAGCAAATACAGGAGATAGAACCAGATTGCTTATTGCGAG
TCCAGACCCTCAGATCCACTGGCCGGGGATGGAATGTACAAAAGTGGACAGAAAAGTGGCTGGACATGACTCGGTGCAATTTGCTGGAAG
TTTGTAAGTTTGACCATCGTTTGTAAATTACTCTCGGAAGAGTTTGTCTCTCTTGATACTGTATTAGAATAGAGCCGGGGGTGAGGAATA
GAAACGTAAGCGGGAAAGAAAAAAATGTGTTGAAGGATCTCTCTCAGTGGCTAGCGACTTAAGATTGCTTTTCATTTAAGGCTAGGAAAC
CTTAGAGGGAGTGAGGATTTTACCGGTGATTGGATTAGCTGAAGAAAAAAGCATGGTCCAAAAGTCCAATTACTGACATTGTTAACAGTT
GAAAAGCTGTCTCCCTCTTTTGGGAGAAGACAACATCCTACAGTACCCCAAAGAGGAGAAAACACCGGAGCGAAAGGAAAGGGAGGAAAA
ATTAAAAGCCAAAAGACAGTCTCCCTTGATTTTTGCACATTTTGAACAGTGACTTAAACATCTTCTGAAACAGCACTGTTTTGTTTTGTT
TTGGTTTTTTATTTAACCTGAGGAAAAGTCAAGGCTGCTGGTTACATAGACATGGTAGAAATGTGTTTCTCTGCAGAAACATCCCCATAA
AGAATTGTCGGAAACAACTAGGTGAGGGGGAGTCCTCTCTATTAATACCTCTCTCAATACCTTTTGCTGTGTGTTTCTGTCTCTTGCTGG
ACAATCCCTGAATTCTTGATCTAACCCCCAGATCGTGTGTTTACAAAGTACCTAGTGGCTCTTGTCAGCTTGGTGGAGGAAAAAAAATCC
ACCAACTCTGTCCAACTTCTCCAGAGCTGTCAAATGCAATTAGAGTAAGTTAATCAGGGTTTGTTTCCAACTTATCCTCCCCCCAGTTGG
TTTCTATTCTTTCTCCCCACCCTCTTTTTACTAACTCCCCTCCCCCACAACTTCTCCACGGCTCCCCCACAACCTCTGAAGACCTCTATT
CATGTGGCCCTGAACACTGAGCTCACATTGTCAAAAACAGACTTGCCTGCAATAGCCAGCAGTAGCCTCTTTCCACCTCACCATCCCAGA
GGCAGCAATCATTGTGTCCGGTAAGATGGGGGACACAGCGCCCCCGCAGGCCCCCGCAGGAGGGCTAGGGGGGGCCTCTGGGGCGGGGCT
CCTTGGAGGGGGCTCAGTCACCCCGAGAGTGCACAGTGCTATCGTGGAGCGCCTCCGGGCTCGGATCGCTGTCTGCCGCCAACACCACCT
GAGCTGTGAAGGACGATATGAACGAGGTAGGGCCGAGAGCTCAGACCGGGAAAGAGAAAGCACCTTGCAGCTCCTGAGCCTTGTACAGCA
TGGCCAGGGGGCAAGGAAAGCTGGCAAACACACCAAGGCCACCGCCACTGCTGCCACCACTACAGCCCCTCCACCGCCCCCTGCTGCCCC
TCCTGCGGCCTCCCAAGCAGCAGCAACAGCAGCCCCACCGCCCCCACCAGACTATCACCATCACCACCAGCAGCACCTGCTGAACAGTAG
CAATAATGGTGGCAGTGGTGGGATAAACGGAGAGCAGCAGCCGCCCGCTTCAACCCCAGGGGACCAGAGGAACTCAGCCCTGATTGCGCT
CCAGGGTTCCTTGAAAAGAAAACAGGTAGTTAACCTATCTCCTGCCAACAGCAAGCGACCCAATGGCTTTGTGGACAACTCATTTCTTGA
TATCAAAAGAATTCGTGTTGGGGAGAATCTCTCTGCAGGACAAGGTGGCCTCCAAATAAACAATGGACAAAGTCAGATTATGTCAGGGAC
CTTGCCTATGAGCCAAGCACCCCTGCGAAAGACTAACACTCTGCCATCCCATACACATTCTCCTGGCAATGGCCTGTTTAACATGGGCTT
AAAGGAGGTAAAGAAGGAGCCAGGAGAGACTCTGTCTTGCAGTAAGCACATGGATGGCCAAATGACCCAAGAGAATATTTTTCCTAATAG
GTACGGAGACGACCCTGGAGAACAACTGATGGATCCTGAGCTGCAGGAACTGTTCAATGAACTGACCAACATATCTGTGCCTCCCATGAG
TGACCTTGAACTGGAGAACATGATCAATGCCACCATAAAGCAGGATGACCCATTTAACATTGACTTGGGTCAGCAAAGCCAGAGGAGCAC
ACCTAGGCCCTCCTTACCCATGGAGAAAATAGTGATCAAAAGTGAATACTCACCGGGCTTGACTCAGGGCCCCTCAGGCTCTCCTCAGCT
GAGGCCCCCATCAGCTGGCCCCGCATTCTCCATGGCCAACTCTGCCCTCTCCACTTCGTCTCCAATCCCTTCAGTCCCTCAGAGCCAGGC
TCAGCCTCAGACAGGCTCCGGAGCAAGCCGGGCCTTGCCAAGCTGGCAGGAAGTATCCCATGCCCAGCAGCTCAAACAGATAGCTGCTAA
TCGTCAGCAGCATGCCCGGATGCAGCAGCACCAGCAGCAGCACCAGCCTACCAACTGGTCAGCCTTGCCCTCTTCTGCTGGACCATCACC
AGGTCCATTTGGGCAGGAGAAAATCCCCAGCCCTTCTTTTGGTCAGCAGACATTCAGCCCACAGAGCTCCCCCATGCCTGGGGTAGCTGG
CGGCAGCGGCCAGTCGAAAGTAATGGCTAACTACATGTACAAGGCCGGCCCCTCAGCCCAGGGTGGGCACCTAGATGTCCTCATGCAGCA
AAAGCCTCAGGATCTCAGTCGAAGTTTTATTAACAACCCGCACCCAGCCATGGAGCCCCGTCAGGGCAACACCAAGCCTTTGTTTCATTT
TAACTCAGATCAAGCGAACCAGCAGATGCCTTCTGTTTTGCCTTCCCAGAACAAGCCTTCTCTCCTACACTACACCCAACAGCAACAGCA
GCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAACAGCAACAGCAGAG
TTCAATTTCAGCTCAACAACAGCAACAGCAGCAGAGCTCAATTTCAGCCCAACAGCAGCAGCAGCAGCAACAACAGCAGCAGCAGCAGCA
ACAACAACAGCAACAACAGCAGCAGCAGCAGCAGCAACAACCATCTTCTCAGCCTGCCCAATCTCTACCAAGCCAGCCTTTGCTAAGGTC
ACCTTTGCCACTTCAGCAAAAGCTCCTACTTCAGCAAATGCAGAATCAGCCCATTGCAGGAATGGGATACCAAGTCTCCCAACAACAGAG
ACAGAAGTCACCTGCACCGGTGCCCGTGACGTACGAGCTGCCCACACTGTATAGGACGGAGGACTATTTTCCTGTGGACGCCGGGGAAGC
ACAGCACCACCCCCGCACCTGCCCTCGGCCTTTGTGAGCTTTGTGGTCTTCCCATCAGGAACGCTGGAAAGTGACATTGTGTACACACTG
CAGCTTGGGGGTTTTTTCTTTGTATTGCTGTTTATTTTATATTTTAAAAATATTTAAAAAAATGTCGAGATGGGGTCTCACTATGTTGTC
CAGACTGATCTCAAACTCCTGGGCTCAAGTGATCCACCCACCTTGGCCTTCCAAAGTGGTGGGATTATGGGCAGGAGCCTCCGTGCCCAG
GCTGCTGCCATTTTCAAATTTCCTCCCTGCCTCATGTGAGACCACAGGGTTTGGAGAAGCAGTTGGAACCCACGTGTGGTGATGCCTCCC
ACATCGGCCTGCTTGGGGTTCTACAGGGGTTGAGGGACCAGGCCTGGCCGGGGCTGATGGACAGTGGGGACTTTCCTTCTCTCCATGATG
GCTTTGCAGGGGCTCCATGGTCCTTCTCTCTGTGATGGGTTTTTGCACGGGGTGTGCTCTGCCACTGTGGTGGGTGGGTGGATGCTGCTT

>51001_51001_2_MAML2-BCAS4_MAML2_chr11_95825056_ENST00000524717_BCAS4_chr20_49493023_ENST00000358791_length(amino acids)=753AA_BP=712
MGDTAPPQAPAGGLGGASGAGLLGGGSVTPRVHSAIVERLRARIAVCRQHHLSCEGRYERGRAESSDRERESTLQLLSLVQHGQGARKAG
KHTKATATAATTTAPPPPPAAPPAASQAAATAAPPPPPDYHHHHQQHLLNSSNNGGSGGINGEQQPPASTPGDQRNSALIALQGSLKRKQ
VVNLSPANSKRPNGFVDNSFLDIKRIRVGENLSAGQGGLQINNGQSQIMSGTLPMSQAPLRKTNTLPSHTHSPGNGLFNMGLKEVKKEPG
ETLSCSKHMDGQMTQENIFPNRYGDDPGEQLMDPELQELFNELTNISVPPMSDLELENMINATIKQDDPFNIDLGQQSQRSTPRPSLPME
KIVIKSEYSPGLTQGPSGSPQLRPPSAGPAFSMANSALSTSSPIPSVPQSQAQPQTGSGASRALPSWQEVSHAQQLKQIAANRQQHARMQ
QHQQQHQPTNWSALPSSAGPSPGPFGQEKIPSPSFGQQTFSPQSSPMPGVAGGSGQSKVMANYMYKAGPSAQGGHLDVLMQQKPQDLSRS
FINNPHPAMEPRQGNTKPLFHFNSDQANQQMPSVLPSQNKPSLLHYTQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQSSISAQQQQ
QQQSSISAQQQQQQQQQQQQQQQQQQQQQQQQQQQPSSQPAQSLPSQPLLRSPLPLQQKLLLQQMQNQPIAGMGYQVSQQQRQKSPAPVP

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

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Fusion Gene PPI Analysis for MAML2-BCAS4

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 MAML2-BCAS4

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 MAML2-BCAS4

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	MAML2	C0087031	Juvenile-Onset Still Disease	1	CTD_human
Hgene	MAML2	C3495559	Juvenile arthritis	1	CTD_human
Hgene	MAML2	C3714758	Juvenile psoriatic arthritis	1	CTD_human
Hgene	MAML2	C4552091	Polyarthritis, Juvenile, Rheumatoid Factor Negative	1	CTD_human
Hgene	MAML2	C4704862	Polyarthritis, Juvenile, Rheumatoid Factor Positive	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:MAML2-BCAS4 (FusionGDB2 ID:HG84441TG55653)

Fusion Gene Summary for MAML2-BCAS4

Fusion Gene ORF analysis for MAML2-BCAS4

Fusion Genomic Features for MAML2-BCAS4

Fusion Protein Features for MAML2-BCAS4

Fusion Gene Sequence for MAML2-BCAS4

Fusion Gene PPI Analysis for MAML2-BCAS4

Related Drugs for MAML2-BCAS4

Related Diseases for MAML2-BCAS4

Fusion Gene Studies
in Kim Lab