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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: 7423

FusionGeneSummary for CLK2_ASH1L

check button Fusion gene summary
Fusion gene informationFusion gene name: CLK2_ASH1L
Fusion gene ID: 7423
HgeneTgene
Gene symbol

CLK2

ASH1L

Gene ID

9894

55870

Gene nametelomere maintenance 2ASH1 like histone lysine methyltransferase
SynonymsCLK2|TEL2|YHFSASH1|ASH1L1|KMT2H|MRD52
Cytomap

16p13.3

1q22

Type of geneprotein-codingprotein-coding
Descriptiontelomere length regulation protein TEL2 homologTEL2, telomere maintenance 2, homologprotein clk-2 homologhistone-lysine N-methyltransferase ASH1LASH1-like proteinabsent small and homeotic disks protein 1 homologash1 (absent, small, or homeotic)-likelysine N-methyltransferase 2Hprobable histone-lysine N-methyltransferase ASH1L
Modification date2018052320180519
UniProtAcc

P49760

Q9NR48

Ensembl transtripts involved in fusion geneENST00000361168, ENST00000368361, 
ENST00000355560, ENST00000497188, 
ENST00000536801, 
ENST00000368346, 
ENST00000392403, ENST00000548830, 
Fusion gene scores* DoF score5 X 5 X 5=1259 X 8 X 5=360
# samples 59
** MAII scorelog2(5/125*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/360*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CLK2 [Title/Abstract] AND ASH1L [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
TgeneASH1L

GO:0097676

histone H3-K36 dimethylation

26002201


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
TCGARVLUADTCGA-91-6836-01ACLK2chr1

155236520

-ASH1Lchr1

155313533

-
* 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
In-frameENST00000361168ENST00000368346CLK2chr1

155236520

-ASH1Lchr1

155313533

-
In-frameENST00000361168ENST00000392403CLK2chr1

155236520

-ASH1Lchr1

155313533

-
5CDS-intronENST00000361168ENST00000548830CLK2chr1

155236520

-ASH1Lchr1

155313533

-
In-frameENST00000368361ENST00000368346CLK2chr1

155236520

-ASH1Lchr1

155313533

-
In-frameENST00000368361ENST00000392403CLK2chr1

155236520

-ASH1Lchr1

155313533

-
5CDS-intronENST00000368361ENST00000548830CLK2chr1

155236520

-ASH1Lchr1

155313533

-
In-frameENST00000355560ENST00000368346CLK2chr1

155236520

-ASH1Lchr1

155313533

-
In-frameENST00000355560ENST00000392403CLK2chr1

155236520

-ASH1Lchr1

155313533

-
5CDS-intronENST00000355560ENST00000548830CLK2chr1

155236520

-ASH1Lchr1

155313533

-
5UTR-3CDSENST00000497188ENST00000368346CLK2chr1

155236520

-ASH1Lchr1

155313533

-
5UTR-3CDSENST00000497188ENST00000392403CLK2chr1

155236520

-ASH1Lchr1

155313533

-
5UTR-intronENST00000497188ENST00000548830CLK2chr1

155236520

-ASH1Lchr1

155313533

-
Frame-shitENST00000536801ENST00000368346CLK2chr1

155236520

-ASH1Lchr1

155313533

-
Frame-shitENST00000536801ENST00000392403CLK2chr1

155236520

-ASH1Lchr1

155313533

-
5CDS-intronENST00000536801ENST00000548830CLK2chr1

155236520

-ASH1Lchr1

155313533

-

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FusionProtFeatures for CLK2_ASH1L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CLK2

P49760

ASH1L

Q9NR48

Dual specificity kinase acting on both serine/threonineand tyrosine-containing substrates. Phosphorylates serine- andarginine-rich (SR) proteins of the spliceosomal complex. May be aconstituent of a network of regulatory mechanisms that enable SRproteins to control RNA splicing and can cause redistribution ofSR proteins from speckles to a diffuse nucleoplasmic distribution.Acts as a suppressor of hepatic gluconeogenesis and glucose outputby repressing PPARGC1A transcriptional activity on gluconeogenicgenes via its phosphorylation. Phosphorylates PPP2R5B therebystimulating the assembly of PP2A phosphatase with the PPP2R5B-AKT1complex leading to dephosphorylation of AKT1. Phosphorylates:PTPN1, SRSF1 and SRSF3. Regulates the alternative splicing oftissue factor (F3) pre-mRNA in endothelial cells.{ECO:0000269|PubMed:10480872, ECO:0000269|PubMed:19168442,ECO:0000269|PubMed:8910305, ECO:0000269|PubMed:9637771}. Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). {ECO:0000269|PubMed:21239497}.

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
HgeneCLK2chr1:155236520chr1:155313533ENST00000361168-713169_177278499Nucleotide bindingATP
HgeneCLK2chr1:155236520chr1:155313533ENST00000368361-713169_177279500Nucleotide bindingATP
HgeneCLK2chr1:155236520chr1:155313533ENST00000536801-713169_177279500Nucleotide bindingATP
TgeneASH1Lchr1:155236520chr1:155313533ENST00000392403-21282661_279826602965DomainBAH

- In-frame and not-retained protein feature among the 13 regional features.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCLK2chr1:155236520chr1:155313533ENST00000361168-713163_479278499DomainProtein kinase
HgeneCLK2chr1:155236520chr1:155313533ENST00000368361-713163_479279500DomainProtein kinase
HgeneCLK2chr1:155236520chr1:155313533ENST00000536801-713163_479279500DomainProtein kinase
TgeneASH1Lchr1:155236520chr1:155313533ENST00000368346-21281380_142426652970Compositional biasNote=Pro-rich
TgeneASH1Lchr1:155236520chr1:155313533ENST00000368346-21281580_179126652970Compositional biasNote=Ser-rich
TgeneASH1Lchr1:155236520chr1:155313533ENST00000392403-21281380_142426602965Compositional biasNote=Pro-rich
TgeneASH1Lchr1:155236520chr1:155313533ENST00000392403-21281580_179126602965Compositional biasNote=Ser-rich
TgeneASH1Lchr1:155236520chr1:155313533ENST00000368346-21281347_135926652970DNA bindingNote=A.T hook 2
TgeneASH1Lchr1:155236520chr1:155313533ENST00000368346-21281847_185926652970DNA bindingNote=A.T hook 3
TgeneASH1Lchr1:155236520chr1:155313533ENST00000368346-2128887_89926652970DNA bindingNote=A.T hook 1
TgeneASH1Lchr1:155236520chr1:155313533ENST00000392403-21281347_135926602965DNA bindingNote=A.T hook 2
TgeneASH1Lchr1:155236520chr1:155313533ENST00000392403-21281847_185926602965DNA bindingNote=A.T hook 3
TgeneASH1Lchr1:155236520chr1:155313533ENST00000392403-2128887_89926602965DNA bindingNote=A.T hook 1
TgeneASH1Lchr1:155236520chr1:155313533ENST00000368346-21282091_214226652970DomainAWS
TgeneASH1Lchr1:155236520chr1:155313533ENST00000368346-21282145_226126652970DomainSET
TgeneASH1Lchr1:155236520chr1:155313533ENST00000368346-21282269_228526652970DomainPost-SET
TgeneASH1Lchr1:155236520chr1:155313533ENST00000368346-21282463_253326652970DomainBromo
TgeneASH1Lchr1:155236520chr1:155313533ENST00000368346-21282661_279826652970DomainBAH
TgeneASH1Lchr1:155236520chr1:155313533ENST00000392403-21282091_214226602965DomainAWS
TgeneASH1Lchr1:155236520chr1:155313533ENST00000392403-21282145_226126602965DomainSET
TgeneASH1Lchr1:155236520chr1:155313533ENST00000392403-21282269_228526602965DomainPost-SET
TgeneASH1Lchr1:155236520chr1:155313533ENST00000392403-21282463_253326602965DomainBromo
TgeneASH1Lchr1:155236520chr1:155313533ENST00000368346-21282069_228826652970RegionNote=Catalytic domain
TgeneASH1Lchr1:155236520chr1:155313533ENST00000392403-21282069_228826602965RegionNote=Catalytic domain
TgeneASH1Lchr1:155236520chr1:155313533ENST00000368346-21282585_263126652970Zinc fingerNote=PHD-type
TgeneASH1Lchr1:155236520chr1:155313533ENST00000392403-21282585_263126602965Zinc fingerNote=PHD-type


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FusionGeneSequence for CLK2_ASH1L


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 CLK2_ASH1L


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
CLK2CLK3, UBL5, FANCM, C19orf40, YWHAG, HSP90AA1, AKT1, SNRNP70, PNN, HNRNPM, LUC7L, TNPO3, CLK2, HUWE1, PSME3, SKIV2L2, ZCCHC8, BCLAF1, CPSF1, FIP1L1, RBBP6, WDR33, PPHLN1, RBM7, ACIN1, PABPC1, SETD2, PKP2, THRAP3, CPSF2, RBM39, SON, ZNF30, HNRNPF, CPSF4, CDKN2A, ECE1, TRIM27, SDCBP, SRPK2, U2AF1, UBE2I, ZRSR2, ZNF263, SRRM1, RNPS1, KLHL2, ZNF473, MRPL4, LUZP4, RSRP1, ZNF398, GMCL1, SNIP1, CPSF7, ZNF394, LNX1, PRPF38A, YTHDC1, BRCA1, EED, TRA2A, LUC7L2, TBC1D9B, NKTR, ZC3H18, CLK1, RBMXL1, SRSF8, ELAVL2, CLASRP, GPATCH8, ZNF638, C11orf57, SRSF12, MDK, SRSF10, NCOA5, EPB41L2, RSBN1L, C17orf85, GPALPP1, APOBEC3D, U2AF2, CDX1, ZC3H14, GSPT2, REPIN1, SRRT, JPH4, CASC3, PRPF4B, PTPN1ASH1LHIST1H3A, H3F3A, SMAD7, THAP7, MORF4L1, PARD6A, SIKE1, MORF4L2, NXF2, CDX1


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 CLK2_ASH1L


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 CLK2_ASH1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneASH1LC0023903Liver neoplasms1CTD_human