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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: 18579

FusionGeneSummary for KIAA0319L_CLSPN

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA0319L_CLSPN
Fusion gene ID: 18579
HgeneTgene
Gene symbol

KIAA0319L

CLSPN

Gene ID

79932

63967

Gene nameKIAA0319 likeclaspin
SynonymsAAVR|AAVRL-
Cytomap

1p34.3

1p34.3

Type of geneprotein-codingprotein-coding
Descriptiondyslexia-associated protein KIAA0319-like proteinAAV receptorAAV receptor likeadeno-associated virus receptorpolycystic kidney disease 1-relatedclaspinclaspin homolog
Modification date2018052320180522
UniProtAcc

Q8IZA0

Q9HAW4

Ensembl transtripts involved in fusion geneENST00000325722, ENST00000373266, 
ENST00000485551, 
ENST00000251195, 
ENST00000466308, ENST00000373220, 
ENST00000520551, ENST00000318121, 
Fusion gene scores* DoF score14 X 8 X 10=11205 X 4 X 4=80
# samples 146
** MAII scorelog2(14/1120*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA0319L [Title/Abstract] AND CLSPN [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
TgeneCLSPN

GO:0007095

mitotic G2 DNA damage checkpoint

18662541

TgeneCLSPN

GO:0018105

peptidyl-serine phosphorylation

16885022

TgeneCLSPN

GO:0032147

activation of protein kinase activity

16885022


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
TCGALDLIHCTCGA-5C-A9VG-01AKIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
* 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
Frame-shitENST00000325722ENST00000251195KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
5CDS-intronENST00000325722ENST00000466308KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
5CDS-intronENST00000325722ENST00000373220KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
5CDS-intronENST00000325722ENST00000520551KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
5CDS-intronENST00000325722ENST00000318121KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
intron-3CDSENST00000373266ENST00000251195KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
intron-intronENST00000373266ENST00000466308KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
intron-intronENST00000373266ENST00000373220KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
intron-intronENST00000373266ENST00000520551KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
intron-intronENST00000373266ENST00000318121KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
5UTR-3CDSENST00000485551ENST00000251195KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
5UTR-intronENST00000485551ENST00000466308KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
5UTR-intronENST00000485551ENST00000373220KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
5UTR-intronENST00000485551ENST00000520551KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-
5UTR-intronENST00000485551ENST00000318121KIAA0319Lchr1

35936464

-CLSPNchr1

36230927

-

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FusionProtFeatures for KIAA0319L_CLSPN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA0319L

Q8IZA0

CLSPN

Q9HAW4

Required for checkpoint mediated cell cycle arrest inresponse to inhibition of DNA replication or to DNA damage inducedby both ionizing and UV irradiation. Adapter protein which bindsto BRCA1 and the checkpoint kinase CHEK1 and facilitates the ATR-dependent phosphorylation of both proteins. Can also bindspecifically to branched DNA structures and may associate with S-phase chromatin following formation of the pre-replication complex(pre-RC). This may indicate a role for this protein as a sensorwhich monitors the integrity of DNA replication forks.{ECO:0000269|PubMed:12766152, ECO:0000269|PubMed:15096610,ECO:0000269|PubMed:15190204, ECO:0000269|PubMed:15226314,ECO:0000269|PubMed:15707391}.

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 KIAA0319L_CLSPN


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 KIAA0319L_CLSPN


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
KIAA0319LSIAH1, LGALS3, CEACAM21, LGALS8, LGALS9, FCN1, GINM1, MMP3, PILRA, TMEM17, TMEM216, CD4, CCDC40, TMEM30B, MGAT4C, LACRT, LMAN2L, TMPRSS3, LRRTM1, ST8SIA4, PCDHB7, HLA-DRB1, SERPINA12CLSPNBRCA1, CHEK1, ATR, RAD9A, USP7, PCNA, TIMELESS, USP28, BTRC, FBXW11, PLK1, MSH6, PMS2, LTA, RAD17, CDC7, CDK9, FZR1, CDC20, HERC2, CASP7, USP29, CEP250, GINS3, XPO1, GJB2, MPP1, MYH7, LTN1, USP20


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 KIAA0319L_CLSPN


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 KIAA0319L_CLSPN


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