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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: 26596

FusionGeneSummary for PDXK_RAD9A

check button Fusion gene summary
Fusion gene informationFusion gene name: PDXK_RAD9A
Fusion gene ID: 26596
HgeneTgene
Gene symbol

PDXK

RAD9A

Gene ID

8566

5883

Gene namepyridoxal kinaseRAD9 checkpoint clamp component A
SynonymsC21orf124|C21orf97|HEL-S-1a|PKH|PNK|PRED79RAD9
Cytomap

21q22.3

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionpyridoxal kinaseepididymis secretory sperm binding protein Li 1apyridoxal (pyridoxine, vitamin B6) kinasepyridoxamine kinasepyridoxine kinasevitamin B6 kinasecell cycle checkpoint control protein RAD9ADNA repair exonuclease rad9 homolog ARAD9 homolog AhRAD9
Modification date2018052320180523
UniProtAcc

O00764

Q99638

Ensembl transtripts involved in fusion geneENST00000398081, ENST00000468090, 
ENST00000291565, ENST00000327574, 
ENST00000476313, ENST00000467908, 
ENST00000307980, ENST00000535644, 
Fusion gene scores* DoF score7 X 7 X 8=3922 X 2 X 2=8
# samples 82
** MAII scorelog2(8/392*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: PDXK [Title/Abstract] AND RAD9A [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
HgenePDXK

GO:0008283

cell proliferation

10930737

HgenePDXK

GO:0042823

pyridoxal phosphate biosynthetic process

9099727|10987144|17766369

TgeneRAD9A

GO:0006974

cellular response to DNA damage stimulus

9872989

TgeneRAD9A

GO:0071479

cellular response to ionizing radiation

21659603


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
ChiTaRS3.1BF916410PDXKchr21

45179830

-RAD9Achr11

67165211

+
* 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
intron-3UTRENST00000398081ENST00000307980PDXKchr21

45179830

-RAD9Achr11

67165211

+
intron-3UTRENST00000398081ENST00000535644PDXKchr21

45179830

-RAD9Achr11

67165211

+
3UTR-3UTRENST00000468090ENST00000307980PDXKchr21

45179830

-RAD9Achr11

67165211

+
3UTR-3UTRENST00000468090ENST00000535644PDXKchr21

45179830

-RAD9Achr11

67165211

+
3UTR-3UTRENST00000291565ENST00000307980PDXKchr21

45179830

-RAD9Achr11

67165211

+
3UTR-3UTRENST00000291565ENST00000535644PDXKchr21

45179830

-RAD9Achr11

67165211

+
intron-3UTRENST00000327574ENST00000307980PDXKchr21

45179830

-RAD9Achr11

67165211

+
intron-3UTRENST00000327574ENST00000535644PDXKchr21

45179830

-RAD9Achr11

67165211

+
intron-3UTRENST00000476313ENST00000307980PDXKchr21

45179830

-RAD9Achr11

67165211

+
intron-3UTRENST00000476313ENST00000535644PDXKchr21

45179830

-RAD9Achr11

67165211

+
3UTR-3UTRENST00000467908ENST00000307980PDXKchr21

45179830

-RAD9Achr11

67165211

+
3UTR-3UTRENST00000467908ENST00000535644PDXKchr21

45179830

-RAD9Achr11

67165211

+

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FusionProtFeatures for PDXK_RAD9A


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

O00764

RAD9A

Q99638

Required for synthesis of pyridoxal-5-phosphate fromvitamin B6. Component of the 9-1-1 cell-cycle checkpoint responsecomplex that plays a major role in DNA repair. The 9-1-1 complexis recruited to DNA lesion upon damage by the RAD17-replicationfactor C (RFC) clamp loader complex. Acts then as a sliding clampplatform on DNA for several proteins involved in long-patch baseexcision repair (LP-BER). The 9-1-1 complex stimulates DNApolymerase beta (POLB) activity by increasing its affinity for the3'-OH end of the primer-template and stabilizes POLB to thosesites where LP-BER proceeds; endonuclease FEN1 cleavage activityon substrates with double, nick, or gap flaps of distinctsequences and lengths; and DNA ligase I (LIG1) on long-patch baseexcision repair substrates. The 9-1-1 complex is necessary for therecruitment of RHNO1 to sites of double-stranded breaks (DSB)occurring during the S phase. RAD9A possesses 3'->5' doublestranded DNA exonuclease activity. Its phosphorylation by PRKCDmay be required for the formation of the 9-1-1 complex.{ECO:0000269|PubMed:10713044, ECO:0000269|PubMed:21659603}.

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 PDXK_RAD9A


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 PDXK_RAD9A


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


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 PDXK_RAD9A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePDXKO00764DB00165PyridoxinePyridoxal kinasesmall moleculeapproved|investigational|nutraceutical|vet_approved

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RelatedDiseases for PDXK_RAD9A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePDXKC0038220Status Epilepticus1CTD_human
TgeneRAD9AC0085183Neoplasms, Second Primary1CTD_human