	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 245

FusionGeneSummary for ABI2_PPP1R1C

Fusion gene summary

Fusion gene information	Fusion gene name: ABI2_PPP1R1C
	Fusion gene ID: 245
		Hgene	Tgene
	Gene symbol	ABI2	PPP1R1C
	Gene ID	10152	151242
	Gene name	abl interactor 2	protein phosphatase 1 regulatory inhibitor subunit 1C
	Synonyms	ABI-2\|ABI2B\|AIP-1\|AblBP3\|SSH3BP2\|argBP1\|argBPIA\|argBPIB	IPP5
	Cytomap	2q33.2	2q31.3-q32.1
	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 phosphatase 1 regulatory subunit 1CPP1 inhibitor protein 5inhibitor-5 of protein phosphatase 1protein phosphatase 1 regulatory subunit 1A
	Modification date	20180522	20180523
	UniProtAcc	Q9NYB9	Q8WVI7
	Ensembl transtripts involved in fusion gene	ENST00000295851, ENST00000261017, ENST00000430418, ENST00000424558, ENST00000261016, ENST00000422511, ENST00000430574, ENST00000261018,	ENST00000475249, ENST00000452904, ENST00000409137, ENST00000280295, ENST00000409702,
Fusion gene scores	* DoF score	8 X 6 X 6=288	2 X 1 X 2=4
	# samples	8	2
	** MAII score	log2(8/288*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(2/4*10)=2.32192809488736
Context	PubMed: ABI2 [Title/Abstract] AND PPP1R1C [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation

* 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

Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.

Data type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	LD	ESCA	TCGA-LN-A49V-01A	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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-3UTR	ENST00000295851	ENST00000475249	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000295851	ENST00000452904	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000295851	ENST00000409137	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000295851	ENST00000280295	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000295851	ENST00000409702	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000261017	ENST00000475249	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000261017	ENST00000452904	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000261017	ENST00000409137	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000261017	ENST00000280295	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000261017	ENST00000409702	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000430418	ENST00000475249	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000430418	ENST00000452904	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000430418	ENST00000409137	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000430418	ENST00000280295	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000430418	ENST00000409702	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000424558	ENST00000475249	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000424558	ENST00000452904	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000424558	ENST00000409137	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000424558	ENST00000280295	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000424558	ENST00000409702	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5UTR-3UTR	ENST00000261016	ENST00000475249	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5UTR-3UTR	ENST00000261016	ENST00000452904	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5UTR-3UTR	ENST00000261016	ENST00000409137	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5UTR-3UTR	ENST00000261016	ENST00000280295	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5UTR-3UTR	ENST00000261016	ENST00000409702	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000422511	ENST00000475249	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000422511	ENST00000452904	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000422511	ENST00000409137	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000422511	ENST00000280295	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000422511	ENST00000409702	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000430574	ENST00000475249	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000430574	ENST00000452904	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000430574	ENST00000409137	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000430574	ENST00000280295	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000430574	ENST00000409702	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000261018	ENST00000475249	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000261018	ENST00000452904	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000261018	ENST00000409137	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000261018	ENST00000280295	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000261018	ENST00000409702	ABI2	chr2	204193354	+	PPP1R1C	chr2	182926169	+

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FusionProtFeatures for ABI2_PPP1R1C

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
ABI2 Q9NYB9	PPP1R1C Q8WVI7
May act in regulation of cell growth and transformationby interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2.Part of the WAVE complex that regulates lamellipodia formation.The WAVE complex regulates actin filament reorganization via itsinteraction with the Arp2/3 complex. Regulates ABL1/c-Abl-mediatedphosphorylation of MENA. As component of the WAVE1 complex,required for BDNF-NTRK2 endocytic trafficking and signaling fromearly endosomes (By similarity). {ECO:0000250\|UniProtKB:P62484,ECO:0000269\|PubMed:10498863, ECO:0000269\|PubMed:7590236,ECO:0000269\|PubMed:8649853}.	Inhibitor of protein-phosphatase 1. Promotes cell growthand cell cycle progress at the G1/S transition. May increase cellsusceptibility to TNF-induced apoptosis.{ECO:0000269\|PubMed:18310074, ECO:0000269\|PubMed:19874272}.

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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FusionGeneSequence for ABI2_PPP1R1C

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ABI2_PPP1R1C

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
ABI2	VCL, KRT19, SNAP23, NCK2, KRT20, PCM1, CCDC53, IFT20, KRT15, ABL1, ADAM19, TRIM32, TRAF3IP1, KHDRBS1, CDK6, CAP1, TPM1, APPL2, AES, CRX, DTNB, HNRNPK, KIFC3, KRT13, KRT31, KRT33B, LMO2, PIN1, PRKAA1, PRKAA2, SDCBP, TRIP6, VASP, WIPF1, EIF3H, HGS, HOMER3, ARHGAP32, PPIF, ABI2, STAM2, EFS, NUP62, TFIP11, BLOC1S6, PRR16, CCHCR1, KIAA1217, VARS2, MRPL44, GCC1, ARMC7, CCDC102B, PRAM1, EGLN3, MRFAP1L1, CCDC36, ENO1, SHMT2, MOV10, NXF1, ENAH, WASF2, ZNF511, UBXN11, LHX4, PCMT1, WASL, NTRK1, ABI1, TCF4, PTPRE, PTPRU, WASF3, RAPH1, WASF1, SASS6, NHSL1, CASKIN2, NCKAP1, BRK1, TNIP1, KIAA1522, CEP44, NCKAP1L, CYFIP2, TIMM50, KIAA0355, ABL2, CYFIP1, IKBIP, AMZ1, NHSL2, CBLC, CCDC22, CGB2, UBR3, RGPD5, C10orf88, OBSL1, EXOC7, GRN, TRIM25, SMARCB1	PPP1R1C

- 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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RelatedDrugs for ABI2_PPP1R1C

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for ABI2_PPP1R1C

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 245

FusionGeneSummary for ABI2_PPP1R1C

FusionProtFeatures for ABI2_PPP1R1C

FusionGeneSequence for ABI2_PPP1R1C

FusionGenePPI for ABI2_PPP1R1C

RelatedDrugs for ABI2_PPP1R1C

RelatedDiseases for ABI2_PPP1R1C