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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:ABI2-MLLT3

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ABI2-MLLT3
	FusionPDB ID: 464
	FusionGDB2.0 ID: 464
		Hgene	Tgene
	Gene symbol	ABI2	MLLT3
	Gene ID	10152	4300
	Gene name	abl interactor 2	MLLT3 super elongation complex subunit
	Synonyms	ABI-2\|ABI2B\|AIP-1\|AIP1\|AblBP3\|SSH3BP2\|argBP1\|argBPIA\|argBPIB	AF9\|YEATS3
	Cytomap	2q33.2	9p21.3
	Type of gene	protein-coding	protein-coding
	Description	abl interactor 2abelson interactor 2abl binding protein 3abl-interacting protein 1 (SH3-containing protein)abl-interactor protein 2barg protein tyrosine kinase-binding proteinarg-binding protein 1	protein AF-9ALL1-fused gene from chromosome 9 proteinKMT2A/MLLT3 fusionKMT2A/MLLT3 fusion proteinYEATS domain-containing protein 3myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3myeloid/lymphoid or mixed-lineage leu
	Modification date	20200327	20200327
	UniProtAcc	Q9NYB9	P42568
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000261016, ENST00000261017, ENST00000261018, ENST00000295851, ENST00000422511, ENST00000424558, ENST00000430418, ENST00000430574,	ENST00000355930, ENST00000429426, ENST00000380321, ENST00000475957, ENST00000380338,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	14 X 7 X 8=784	18 X 37 X 9=5994
	# samples	17	35
	** MAII score	log2(17/784*10)=-2.20531890797751 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(35/5994*10)=-4.09809225668125 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ABI2 [Title/Abstract] AND MLLT3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ABI2(204281804)-MLLT3(20456784), # samples:1
Anticipated loss of major functional domain due to fusion event.	ABI2-MLLT3 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. ABI2-MLLT3 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. ABI2-MLLT3 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. ABI2-MLLT3 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	ABI2	GO:0016601	Rac protein signal transduction	21107423
Hgene	ABI2	GO:0018108	peptidyl-tyrosine phosphorylation	17101133
Hgene	ABI2	GO:2000601	positive regulation of Arp2/3 complex-mediated actin nucleation	21107423
Tgene	MLLT3	GO:0045893	positive regulation of transcription, DNA-templated	25417107\|27105114
Tgene	MLLT3	GO:0090090	negative regulation of canonical Wnt signaling pathway	19591803

Fusion gene breakpoints across ABI2 (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 MLLT3 (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	STAD	TCGA-CD-A48C-01A	ABI2	chr2	204281804	+	MLLT3	chr9	20456784	-

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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)
ENST00000295851	ABI2	chr2	204281804	+	ENST00000380338	MLLT3	chr9	20456784	-	7954	1662	263	3175	970
ENST00000261017	ABI2	chr2	204281804	+	ENST00000380338	MLLT3	chr9	20456784	-	7779	1487	202	3000	932
ENST00000430418	ABI2	chr2	204281804	+	ENST00000380338	MLLT3	chr9	20456784	-	7616	1324	90	2837	915
ENST00000424558	ABI2	chr2	204281804	+	ENST00000380338	MLLT3	chr9	20456784	-	7760	1468	87	2981	964
ENST00000261016	ABI2	chr2	204281804	+	ENST00000380338	MLLT3	chr9	20456784	-	7653	1361	331	2874	847
ENST00000422511	ABI2	chr2	204281804	+	ENST00000380338	MLLT3	chr9	20456784	-	7590	1298	31	2811	926
ENST00000261018	ABI2	chr2	204281804	+	ENST00000380338	MLLT3	chr9	20456784	-	7063	771	17	2284	755

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
ENST00000295851	ENST00000380338	ABI2	chr2	204281804	+	MLLT3	chr9	20456784	-	0.000111438	0.99988854
ENST00000261017	ENST00000380338	ABI2	chr2	204281804	+	MLLT3	chr9	20456784	-	8.11E-05	0.99991894
ENST00000430418	ENST00000380338	ABI2	chr2	204281804	+	MLLT3	chr9	20456784	-	6.90E-05	0.999931
ENST00000424558	ENST00000380338	ABI2	chr2	204281804	+	MLLT3	chr9	20456784	-	9.51E-05	0.999905
ENST00000261016	ENST00000380338	ABI2	chr2	204281804	+	MLLT3	chr9	20456784	-	0.000131669	0.9998683
ENST00000422511	ENST00000380338	ABI2	chr2	204281804	+	MLLT3	chr9	20456784	-	0.000121074	0.9998789
ENST00000261018	ENST00000380338	ABI2	chr2	204281804	+	MLLT3	chr9	20456784	-	0.000246932	0.99975306

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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

>464_464_1_ABI2-MLLT3_ABI2_chr2_204281804_ENST00000261016_MLLT3_chr9_20456784_ENST00000380338_length(amino acids)=847AA_BP=343
MSCRCWISRHPSYEGWNLQSIIFHKQIRGVDLESTFVTKFGNNCSLRLNETVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVR
YIRKPIDYTILDDIGHGVKVSTQNMKMGGLPRTTPPTQKPPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPSPTRNMAPSQQSPVRT
ASVNQRNRTYSSSGSSGGSHPSSRSSSRENSGSGSVGVPIAVPTPSPPSVFPGHPVQFYSMNRPASRHTPPTIGGSLPYRRPPSITSQTS
LQNQMNGGPFYSQNPVSDTPPPPPPVEEPVFDESPPPPPPPEDYEEEEAAVVEYSDPYAEEDPPWAPRSYLEKVCKDPPYKVEESGYAGF
ILPIEVYFKNKEEPRKVRFDYDLFLHLEGHPPVNHLRCEKLTFNNPTEDFRRKLLKAGGDPNRSIHTSSSSSSSSSSSSSSSSSSSSSSS
SSSSSSSSSSSSSSSSSSSTSFSKPHKLMKEHKEKPSKDSREHKSAFKEPSRDHNKSSKESSKKPKENKPLKEEKIVPKMAFKEPKPMSK
EPKPDSNLLTITSGQDKKAPSKRPPISDSEELSAKKRKKSSSEALFKSFSSAPPLILTCSADKKQIKDKSHVKMGKVKIESETSEKKKST
LPPFDDIVDPNDSDVEENISSKSDSEQPSPASSSSSSSSSFTPSQTRQQGPLRSIMKDLHSDDNEEESDEVEDNDNDSEMERPVNRGGSR
SRRVSLSDGSDSESSSASSPLHHEPPPPLLKTNNNQILEVKSPIKQSKSDKQIKNGECDKAYLDELVELHRRLMTLRERHILQQIVNLIE

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

>464_464_2_ABI2-MLLT3_ABI2_chr2_204281804_ENST00000261017_MLLT3_chr9_20456784_ENST00000380338_length(amino acids)=932AA_BP=428
MYEEEEEEDVKMAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLASVAYLINTLANNVLQMLDIQ
ASQLRRMESSINHISQTVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVRYIRKPIDYTILDDIGHGVKVSTQNMKMGGLPRTT
PPTQKPPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPSPTRNMAPSQQSPVRTASVNQRNRTYSSSGSSGGSHPSSRSSSRENSGSG
SVGVPIAVPTPSPPSVFPGHPVQFYSMNRPASRHTPPTIGGSLPYRRPPSITSQTSLQNQMNGGPFYSQNPVSLAPPPPSILQVTPQLPL
MGFVARVQENISDTPPPPPPVEEPVFDESPPPPPPPEDYEEEEAAVVEYSDPYAEEDPPWAPRSYLEKVCKDPPYKVEESGYAGFILPIE
VYFKNKEEPRKVRFDYDLFLHLEGHPPVNHLRCEKLTFNNPTEDFRRKLLKAGGDPNRSIHTSSSSSSSSSSSSSSSSSSSSSSSSSSSS
SSSSSSSSSSSSSSTSFSKPHKLMKEHKEKPSKDSREHKSAFKEPSRDHNKSSKESSKKPKENKPLKEEKIVPKMAFKEPKPMSKEPKPD
SNLLTITSGQDKKAPSKRPPISDSEELSAKKRKKSSSEALFKSFSSAPPLILTCSADKKQIKDKSHVKMGKVKIESETSEKKKSTLPPFD
DIVDPNDSDVEENISSKSDSEQPSPASSSSSSSSSFTPSQTRQQGPLRSIMKDLHSDDNEEESDEVEDNDNDSEMERPVNRGGSRSRRVS
LSDGSDSESSSASSPLHHEPPPPLLKTNNNQILEVKSPIKQSKSDKQIKNGECDKAYLDELVELHRRLMTLRERHILQQIVNLIEETGHF

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

>464_464_3_ABI2-MLLT3_ABI2_chr2_204281804_ENST00000261018_MLLT3_chr9_20456784_ENST00000380338_length(amino acids)=755AA_BP=251
MLRFKVSTQNMKMGGLPRTTPPTQKPPSPPMSGKGTLGSSGSSGGSHPSSRSSSRENSGSGSVGVPIAVPTPSPPSVFPAPAGSAGTPPL
PATSASAPAPLVPATVPSSTAPDAAAGGAQTLADGFTSPTPPVVSSTPPTGHPVQFYSMNRPASRHTPPTIGGSLPYRRPPSITSQTSLQ
NQMNGGPFYSQNPVSDTPPPPPPVEEPVFDESPPPPPPPEDYEEEEAAVVEYSDPYAEEDPPWAPRSYLEKVCKDPPYKVEESGYAGFIL
PIEVYFKNKEEPRKVRFDYDLFLHLEGHPPVNHLRCEKLTFNNPTEDFRRKLLKAGGDPNRSIHTSSSSSSSSSSSSSSSSSSSSSSSSS
SSSSSSSSSSSSSSSSSTSFSKPHKLMKEHKEKPSKDSREHKSAFKEPSRDHNKSSKESSKKPKENKPLKEEKIVPKMAFKEPKPMSKEP
KPDSNLLTITSGQDKKAPSKRPPISDSEELSAKKRKKSSSEALFKSFSSAPPLILTCSADKKQIKDKSHVKMGKVKIESETSEKKKSTLP
PFDDIVDPNDSDVEENISSKSDSEQPSPASSSSSSSSSFTPSQTRQQGPLRSIMKDLHSDDNEEESDEVEDNDNDSEMERPVNRGGSRSR
RVSLSDGSDSESSSASSPLHHEPPPPLLKTNNNQILEVKSPIKQSKSDKQIKNGECDKAYLDELVELHRRLMTLRERHILQQIVNLIEET

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

>464_464_4_ABI2-MLLT3_ABI2_chr2_204281804_ENST00000295851_MLLT3_chr9_20456784_ENST00000380338_length(amino acids)=970AA_BP=466
MYEEEEEEDVKMAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLASVAYLINTLANNVLQMLDIQ
ASQLRRMESSINHISQTVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVRYIRKPIDYTILDDIGHGVKWLLRFKVSTQNMKMG
GLPRTTPPTQKPPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPSPTRNMAPSQQSPVRTASVNQRNRTYSSSGSSGGSHPSSRSSSR
ENSGSGSVGVPIAVPTPSPPSVFPAPAGSAGTPPLPATSASAPAPLVPATVPSSTAPDAAAGGAQTLADGFTSPTPPVVSSTPPTGHPVQ
FYSMNRPASRHTPPTIGGSLPYRRPPSITSQTSLQNQMNGGPFYSQNPVSDTPPPPPPVEEPVFDESPPPPPPPEDYEEEEAAVVEYSDP
YAEEDPPWAPRSYLEKVCKDPPYKVEESGYAGFILPIEVYFKNKEEPRKVRFDYDLFLHLEGHPPVNHLRCEKLTFNNPTEDFRRKLLKA
GGDPNRSIHTSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSTSFSKPHKLMKEHKEKPSKDSREHKSAFKEPSRDHNKS
SKESSKKPKENKPLKEEKIVPKMAFKEPKPMSKEPKPDSNLLTITSGQDKKAPSKRPPISDSEELSAKKRKKSSSEALFKSFSSAPPLIL
TCSADKKQIKDKSHVKMGKVKIESETSEKKKSTLPPFDDIVDPNDSDVEENISSKSDSEQPSPASSSSSSSSSFTPSQTRQQGPLRSIMK
DLHSDDNEEESDEVEDNDNDSEMERPVNRGGSRSRRVSLSDGSDSESSSASSPLHHEPPPPLLKTNNNQILEVKSPIKQSKSDKQIKNGE

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

>464_464_5_ABI2-MLLT3_ABI2_chr2_204281804_ENST00000422511_MLLT3_chr9_20456784_ENST00000380338_length(amino acids)=926AA_BP=422
MAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLASVAYLINTLANNVLQMLDIQASQLRRMESSI
NHISQTVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVRYIRKPIDYTILDDIGHGVKWLLRFKVSTQNMKMGGLPRTTPPTQK
PPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPSPTRNMAPSQQSPVRTASVNQRNRTYSSSGSSGGSHPSSRSSSRENSGSGSVGVP
IAVPTPSPPSVFPDAAAGGAQTLADGFTSPTPPVVSSTPPTGHPVQFYSMNRPASRHTPPTIGGSLPYRRPPSITSQTSLQNQMNGGPFY
SQNPVSDTPPPPPPVEEPVFDESPPPPPPPEDYEEEEAAVVEYSDPYAEEDPPWAPRSYLEKVCKDPPYKVEESGYAGFILPIEVYFKNK
EEPRKVRFDYDLFLHLEGHPPVNHLRCEKLTFNNPTEDFRRKLLKAGGDPNRSIHTSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSS
SSSSSSSSTSFSKPHKLMKEHKEKPSKDSREHKSAFKEPSRDHNKSSKESSKKPKENKPLKEEKIVPKMAFKEPKPMSKEPKPDSNLLTI
TSGQDKKAPSKRPPISDSEELSAKKRKKSSSEALFKSFSSAPPLILTCSADKKQIKDKSHVKMGKVKIESETSEKKKSTLPPFDDIVDPN
DSDVEENISSKSDSEQPSPASSSSSSSSSFTPSQTRQQGPLRSIMKDLHSDDNEEESDEVEDNDNDSEMERPVNRGGSRSRRVSLSDGSD
SESSSASSPLHHEPPPPLLKTNNNQILEVKSPIKQSKSDKQIKNGECDKAYLDELVELHRRLMTLRERHILQQIVNLIEETGHFHITNTT

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

>464_464_6_ABI2-MLLT3_ABI2_chr2_204281804_ENST00000424558_MLLT3_chr9_20456784_ENST00000380338_length(amino acids)=964AA_BP=460
MYEEEEEEDVKMAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLASVAYLINTLANNVLQMLDIQ
ASQLRRMESSINHISQTVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVRYIRKPIDYTILDDIGHGVKVSTQNMKMGGLPRTT
PPTQKPPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPSPTRNMAPSQQSPVRTASVNQRNRTYSSSGSSGGSHPSSRSSSRENSGSG
SVGVPIAVPTPSPPSVFPAPAGSAGTPPLPATSASAPAPLVPATVPSSTAPDAAAGGAQTLADGFTSPTPPVVSSTPPTGHPVQFYSMNR
PASRHTPPTIGGSLPYRRPPSITSQTSLQNQMNGGPFYSQNPVSDTPPPPPPVEEPVFDESPPPPPPPEDYEEEEAAVVEYSDPYAEEDP
PWAPRSYLEKVCKDPPYKVEESGYAGFILPIEVYFKNKEEPRKVRFDYDLFLHLEGHPPVNHLRCEKLTFNNPTEDFRRKLLKAGGDPNR
SIHTSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSTSFSKPHKLMKEHKEKPSKDSREHKSAFKEPSRDHNKSSKESSK
KPKENKPLKEEKIVPKMAFKEPKPMSKEPKPDSNLLTITSGQDKKAPSKRPPISDSEELSAKKRKKSSSEALFKSFSSAPPLILTCSADK
KQIKDKSHVKMGKVKIESETSEKKKSTLPPFDDIVDPNDSDVEENISSKSDSEQPSPASSSSSSSSSFTPSQTRQQGPLRSIMKDLHSDD
NEEESDEVEDNDNDSEMERPVNRGGSRSRRVSLSDGSDSESSSASSPLHHEPPPPLLKTNNNQILEVKSPIKQSKSDKQIKNGECDKAYL

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

>464_464_7_ABI2-MLLT3_ABI2_chr2_204281804_ENST00000430418_MLLT3_chr9_20456784_ENST00000380338_length(amino acids)=915AA_BP=411
MYEEEEEEDVKMAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLASVAYLINTLANNVLQMLDIQ
ASQLRRMESSINHISQTVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVRYIRKPIDYTILDDIGHGVKVSTQNMKMGGLPRTT
PPTQKPPSPPMSGKGTLGSSGSSGGSHPSSRSSSRENSGSGSVGVPIAVPTPSPPSVFPAPAGSAGTPPLPATSASAPAPLVPATVPSST
APDAAAGGAQTLADGFTSPTPPVVSSTPPTGHPVQFYSMNRPASRHTPPTIGGSLPYRRPPSITSQTSLQNQMNGGPFYSQNPVSDTPPP
PPPVEEPVFDESPPPPPPPEDYEEEEAAVVEYSDPYAEEDPPWAPRSYLEKVCKDPPYKVEESGYAGFILPIEVYFKNKEEPRKVRFDYD
LFLHLEGHPPVNHLRCEKLTFNNPTEDFRRKLLKAGGDPNRSIHTSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSTSF
SKPHKLMKEHKEKPSKDSREHKSAFKEPSRDHNKSSKESSKKPKENKPLKEEKIVPKMAFKEPKPMSKEPKPDSNLLTITSGQDKKAPSK
RPPISDSEELSAKKRKKSSSEALFKSFSSAPPLILTCSADKKQIKDKSHVKMGKVKIESETSEKKKSTLPPFDDIVDPNDSDVEENISSK
SDSEQPSPASSSSSSSSSFTPSQTRQQGPLRSIMKDLHSDDNEEESDEVEDNDNDSEMERPVNRGGSRSRRVSLSDGSDSESSSASSPLH
HEPPPPLLKTNNNQILEVKSPIKQSKSDKQIKNGECDKAYLDELVELHRRLMTLRERHILQQIVNLIEETGHFHITNTTFDFDLCSLDKT

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

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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/chr2:204281804/chr9:20456784)
- 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
ABI2 Q9NYB9	MLLT3 P42568
FUNCTION: Regulator of actin cytoskeleton dynamics underlying cell motility and adhesion. Functions as a component of the WAVE complex, which activates actin nucleating machinery Arp2/3 to drive lamellipodia formation (PubMed:21107423). Acts as regulator and substrate of nonreceptor tyrosine kinases ABL1 and ABL2 involved in processes linked to cell growth and differentiation. Positively regulates ABL1-mediated phosphorylation of ENAH, which is required for proper polymerization of nucleated actin filaments at the leading edge (PubMed:7590236, PubMed:8649853, PubMed:10498863). Contributes to the regulation of actin assembly at the tips of neuron projections. In particular, controls dendritic spine morphogenesis and may promote dendritic spine specification toward large mushroom-type spines known as repositories of memory in the brain (By similarity). In hippocampal neurons, may mediate actin-dependent BDNF-NTRK2 early endocytic trafficking that triggers dendrite outgrowth (By similarity). Participates in ocular lens morphogenesis, likely by regulating lamellipodia-driven adherens junction formation at the epithelial cell-secondary lens fiber interface (By similarity). Also required for nascent adherens junction assembly in epithelial cells (PubMed:15572692). {ECO:0000250\|UniProtKB:P62484, ECO:0000269\|PubMed:10498863, ECO:0000269\|PubMed:15572692, ECO:0000269\|PubMed:21107423, ECO:0000269\|PubMed:7590236, ECO:0000269\|PubMed:8649853}.	FUNCTION: Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (PubMed:20159561, PubMed:20471948, PubMed:25417107, PubMed:27105114, PubMed:27545619). Specifically recognizes and binds acylated histone H3, with a preference for histone H3 that is crotonylated (PubMed:25417107, PubMed:27105114, PubMed:27545619, PubMed:30374167, PubMed:30385749). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25417107, PubMed:27105114, PubMed:27545619). Recognizes and binds histone H3 crotonylated at 'Lys-9' (H3K9cr), and with slightly lower affinity histone H3 crotonylated at 'Lys-18' (H3K18cr) (PubMed:27105114). Also recognizes and binds histone H3 acetylated and butyrylated at 'Lys-9' (H3K9ac and H3K9bu, respectively), but with lower affinity than crotonylated histone H3 (PubMed:25417107, PubMed:27105114, PubMed:30385749). In the SEC complex, MLLT3 is required to recruit the complex to crotonylated histones (PubMed:27105114, PubMed:27545619). Recruitment of the SEC complex to crotonylated histones promotes recruitment of DOT1L on active chromatin to deposit histone H3 'Lys-79' methylation (H3K79me) (PubMed:25417107). Plays a key role in hematopoietic stem cell (HSC) maintenance by preserving, rather than confering, HSC stemness (PubMed:31776511). Acts by binding to the transcription start site of active genes in HSCs and sustaining level of H3K79me2, probably by recruiting DOT1L (PubMed:31776511). {ECO:0000269\|PubMed:20159561, ECO:0000269\|PubMed:20471948, ECO:0000269\|PubMed:25417107, ECO:0000269\|PubMed:27105114, ECO:0000269\|PubMed:27545619, ECO:0000269\|PubMed:30374167, ECO:0000269\|PubMed:30385749, ECO:0000269\|PubMed:31776511}.

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

ABI2

chr2:204281804

chr9:20456784

ENST00000424558

172_423

449.3333333333333

508.0

Compositional bias

Note=Pro-rich

Hgene

ABI2

chr2:204281804

chr9:20456784

ENST00000261016

45_107

343.3333333333333

402.0

Domain

t-SNARE coiled-coil homology

Hgene

ABI2

chr2:204281804

chr9:20456784

ENST00000261017

45_107

417.3333333333333

476.0

Domain

t-SNARE coiled-coil homology

Hgene

ABI2

chr2:204281804

chr9:20456784

ENST00000424558

45_107

449.3333333333333

508.0

Domain

t-SNARE coiled-coil homology

Tgene

MLLT3

chr2:204281804

chr9:20456784

ENST00000380338

149_194

64.33333333333333

569.0

Compositional bias

Note=Poly-Ser

Tgene

MLLT3

chr2:204281804

chr9:20456784

ENST00000380338

383_391

64.33333333333333

569.0

Compositional bias

Note=Poly-Ser

Tgene

MLLT3

chr2:204281804

chr9:20456784

ENST00000380338

466_469

64.33333333333333

569.0

Compositional bias

Note=Poly-Pro

Tgene

MLLT3

chr2:204281804

chr9:20456784

ENST00000380338

295_300

64.33333333333333

569.0

Motif

Nuclear localization signal

Tgene

MLLT3

chr2:204281804

chr9:20456784

ENST00000380338

106_108

64.33333333333333

569.0

Region

Histone H3K9cr binding

Tgene

MLLT3

chr2:204281804

chr9:20456784

ENST00000380338

106_109

64.33333333333333

569.0

Region

Inhibitor XL-07i binding

Tgene

MLLT3

chr2:204281804

chr9:20456784

ENST00000380338

78_80

64.33333333333333

569.0

Region

Histone H3K9cr binding

- 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

ABI2

chr2:204281804

chr9:20456784

ENST00000261016

172_423

343.3333333333333

402.0

Compositional bias

Note=Pro-rich

Hgene

ABI2

chr2:204281804

chr9:20456784

ENST00000261017

172_423

417.3333333333333

476.0

Compositional bias

Note=Pro-rich

Hgene

ABI2

chr2:204281804

chr9:20456784

ENST00000261016

451_510

343.3333333333333

402.0

Domain

SH3

Hgene

ABI2

chr2:204281804

chr9:20456784

ENST00000261017

451_510

417.3333333333333

476.0

Domain

SH3

Hgene

ABI2

chr2:204281804

chr9:20456784

ENST00000424558

451_510

449.3333333333333

508.0

Domain

SH3

Tgene

MLLT3

chr2:204281804

chr9:20456784

ENST00000380338

1_138

64.33333333333333

569.0

Domain

YEATS

Tgene

MLLT3

chr2:204281804

chr9:20456784

ENST00000380338

56_58

64.33333333333333

569.0

Region

Inhibitor XL-07i binding

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

MLLT3

APPBP2, MCM6, BCOR, RBM48, EEF1A1, PTN, LRIF1, DOT1L, SGK1, AFF4, AFF1, CDK9, AFF3, ACACA, SIRT1, CCNT1, NIPBL, EAF1, ELL3, PCGF1, MLLT1, EEF2, ELL, MLLT10, CCNT2, RNF2, KMT2A, CHD4, ELL2, PAF1, Cbx8, APP, CDK6, MED26, HSP90B1, EXOSC3, FAM9A, EDA, DENND2D, EPB41L3, XPO1, Aff1, Mllt1, H3F3A, PIP4K2A, EPB41L2, CAMKV, MLLT6, SNX24, BPIFB1, MDK, PES1, EPB41L5, ARRB2, ORF35, ALKBH4, LRRK2, HIST1H3A, KIAA1429, HHT1, DYRK1A, MIIP, VAX1, ZNF572, CCAR2, STH1, TULP3, COIL, FGF11, CT45A5, FGF12, RASA2, NDUFAF4, CREB3L3, SMOC1, SYT2, RNF151, PLCD4, CEP89, DAXX, EPB41L1, PLCD3, KCNE3, SULF2, SKP1,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
ABI2
MLLT3

- 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 ABI2-MLLT3

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to ABI2-MLLT3

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
Tgene	MLLT3	C0005586	Bipolar Disorder	1	PSYGENET