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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 242

FusionGeneSummary for ABI2_FAM117B

check button Fusion gene summary
Fusion gene informationFusion gene name: ABI2_FAM117B
Fusion gene ID: 242
HgeneTgene
Gene symbol

ABI2

FAM117B

Gene ID

10152

150864

Gene nameabl interactor 2family with sequence similarity 117 member B
SynonymsABI-2|ABI2B|AIP-1|AblBP3|SSH3BP2|argBP1|argBPIA|argBPIBALS2CR13
Cytomap

2q33.2

2q33.2

Type of geneprotein-codingprotein-coding
Descriptionabl interactor 2abelson interactor 2abl binding protein 3abl-interacting protein 1 (SH3-containing protein)abl-interactor protein 2barg protein tyrosine kinase-binding proteinarg-binding protein 1protein FAM117Bamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein
Modification date2018052220180523
UniProtAcc

Q9NYB9

Q6P1L5

Ensembl transtripts involved in fusion geneENST00000295851, ENST00000261017, 
ENST00000430418, ENST00000424558, 
ENST00000261016, ENST00000422511, 
ENST00000430574, ENST00000261018, 
ENST00000303116, ENST00000392238, 
Fusion gene scores* DoF score8 X 6 X 6=2883 X 2 X 2=12
# samples 83
** MAII scorelog2(8/288*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ABI2 [Title/Abstract] AND FAM117B [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneABI2

GO:0016601

Rac protein signal transduction

21107423

HgeneABI2

GO:0018108

peptidyl-tyrosine phosphorylation

17101133

HgeneABI2

GO:2000601

positive regulation of Arp2/3 complex-mediated actin nucleation

21107423


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-A2-A04U-01AABI2chr2

204281804

+FAM117Bchr2

203560604

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

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000295851ENST00000303116ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000295851ENST00000392238ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000261017ENST00000303116ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000261017ENST00000392238ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000430418ENST00000303116ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000430418ENST00000392238ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000424558ENST00000303116ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000424558ENST00000392238ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000261016ENST00000303116ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000261016ENST00000392238ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000422511ENST00000303116ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000422511ENST00000392238ABI2chr2

204281804

+FAM117Bchr2

203560604

+
intron-5UTRENST00000430574ENST00000303116ABI2chr2

204281804

+FAM117Bchr2

203560604

+
intron-5UTRENST00000430574ENST00000392238ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000261018ENST00000303116ABI2chr2

204281804

+FAM117Bchr2

203560604

+
5CDS-5UTRENST00000261018ENST00000392238ABI2chr2

204281804

+FAM117Bchr2

203560604

+

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FusionProtFeatures for ABI2_FAM117B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ABI2

Q9NYB9

FAM117B

Q6P1L5

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}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for ABI2_FAM117B


check button 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_FAM117B


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
ABI2VCL, 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, SMARCB1FAM117BELAVL1, KEAP1, DYRK1B, DYRK1A, NEDD1, BANP, SHMT2, FNTB, PSMC3, STAT3, DYNLL1, TNKS, IMMP1L, TNKS2, TSC22D2, TSC22D3, PNMA2, NRBP1, GAPDHS, ALDH16A1, FNTA, DYNLL2, DCAF7


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for ABI2_FAM117B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ABI2_FAM117B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource