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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: 1967

FusionGeneSummary for ANTXR1_APLF

check button Fusion gene summary
Fusion gene informationFusion gene name: ANTXR1_APLF
Fusion gene ID: 1967
HgeneTgene
Gene symbol

ANTXR1

APLF

Gene ID

84168

200558

Gene nameANTXR cell adhesion molecule 1aprataxin and PNKP like factor
SynonymsATR|GAPO|TEM8APFL|C2orf13|PALF|Xip1|ZCCHH1
Cytomap

2p13.3

2p13.3

Type of geneprotein-codingprotein-coding
Descriptionanthrax toxin receptor 12310008J16Rik2810405N18Riktumor endothelial marker 8aprataxin and PNK-like factorPNK and APTX-like FHA domain-containing proteinPNK and APTX-like FHA proteinXRCC1-interacting protein 1aprataxin- and PNK-like factorapurinic-apyrimidinic endonuclease APLFzinc finger, CX5CX6HX5H motif containing 1
Modification date2018052320180523
UniProtAcc

Q9H6X2

Q8IW19

Ensembl transtripts involved in fusion geneENST00000303714, ENST00000409829, 
ENST00000409349, 
ENST00000471727, 
ENST00000303795, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 3=27
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ANTXR1 [Title/Abstract] AND APLF [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
HgeneANTXR1

GO:0031532

actin cytoskeleton reorganization

16762926

HgeneANTXR1

GO:0034446

substrate adhesion-dependent cell spreading

16762926

TgeneAPLF

GO:0006974

cellular response to DNA damage stimulus

17396150


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
TCGARVOVTCGA-24-1469-01AANTXR1chr2

69298919

+APLFchr2

68804952

+
* 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-3UTRENST00000303714ENST00000471727ANTXR1chr2

69298919

+APLFchr2

68804952

+
5CDS-3UTRENST00000303714ENST00000303795ANTXR1chr2

69298919

+APLFchr2

68804952

+
5CDS-3UTRENST00000409829ENST00000471727ANTXR1chr2

69298919

+APLFchr2

68804952

+
5CDS-3UTRENST00000409829ENST00000303795ANTXR1chr2

69298919

+APLFchr2

68804952

+
5CDS-3UTRENST00000409349ENST00000471727ANTXR1chr2

69298919

+APLFchr2

68804952

+
5CDS-3UTRENST00000409349ENST00000303795ANTXR1chr2

69298919

+APLFchr2

68804952

+

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FusionProtFeatures for ANTXR1_APLF


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANTXR1

Q9H6X2

APLF

Q8IW19

Plays a role in cell attachment and migration. Interactswith extracellular matrix proteins and with the actincytoskeleton. Mediates adhesion of cells to type 1 collagen andgelatin, reorganization of the actin cytoskeleton and promotescell spreading. Plays a role in the angiogenic response ofcultured umbilical vein endothelial cells.{ECO:0000269|PubMed:15777794, ECO:0000269|PubMed:16762926}. Nuclease involved in single-strand and double-strand DNAbreak repair. Recruited to sites of DNA damage through interactionwith poly(ADP-ribose), a polymeric post-translational modificationsynthesized transiently at sites of chromosomal damage toaccelerate DNA strand break repair reactions. Displays apurinic-apyrimidinic (AP) endonuclease and 3'-5' exonuclease activities invitro. Also able to introduce nicks at hydroxyuracil and othertypes of pyrimidine base damage. {ECO:0000269|PubMed:17353262,ECO:0000269|PubMed:17396150}.

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 ANTXR1_APLF


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 ANTXR1_APLF


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
ANTXR1ELAVL1, SPACA1, TUBB3, RSAD1, CA11, ZNF146, POTEF, TUBB8, HSPA5, KANK2, RICTOR, LRP11, PDIA5, TUBA4A, TUBA1A, PC, DNAJC12, OBSL1, RPL23, H6PD, KIRREL, GALNT7, WFS1, PCYOX1, CNTNAP3, FOXF2, TUBB4A, DMXL2, MAP2K7, ETV3, MANEA, ERF, TRMT44, PAM16, GDF11, SAMD1, WNT5A, SLAMF1, PRMT2, FLNA, GJB2, MYH9, SYN1, KLF8, MYO19, B4GALNT4, OCLN, IL13RA2, FCGRT, PMEL, TMEM30A, UBC, TRIM25APLFCHD1L, HIST3H3, PARP1, LIG4, XRCC5, APP, FBXO25, GMCL1, POLB, H2AFY2, H2AFY, SUPT16H, XRCC1, LIG3, PARP2, XRCC6, HLTF, HIST1H2BJ, HIST1H2AG, HIST2H2AB, XRCC4, XPC, CETN2, TDP1, TOP1, SSRP1, ZG16B, HIST2H3PS2, CST4, HIST1H2BA, HIST2H2AC, MSH3, CST1


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 ANTXR1_APLF


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 ANTXR1_APLF


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