|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 7423 |
FusionGeneSummary for CLK2_ASH1L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CLK2_ASH1L | Fusion gene ID: 7423 | Hgene | Tgene | Gene symbol | CLK2 | ASH1L | Gene ID | 9894 | 55870 |
| Gene name | telomere maintenance 2 | ASH1 like histone lysine methyltransferase | |
| Synonyms | CLK2|TEL2|YHFS | ASH1|ASH1L1|KMT2H|MRD52 | |
| Cytomap | 16p13.3 | 1q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | telomere length regulation protein TEL2 homologTEL2, telomere maintenance 2, homologprotein clk-2 homolog | histone-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 date | 20180523 | 20180519 | |
| UniProtAcc | P49760 | Q9NR48 | |
| Ensembl transtripts involved in fusion gene | ENST00000361168, ENST00000368361, ENST00000355560, ENST00000497188, ENST00000536801, | ENST00000368346, ENST00000392403, ENST00000548830, | |
| Fusion gene scores | * DoF score | 5 X 5 X 5=125 | 9 X 8 X 5=360 |
| # samples | 5 | 9 | |
| ** MAII score | log2(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | ASH1L | GO:0097676 | histone H3-K36 dimethylation | 26002201 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | LUAD | TCGA-91-6836-01A | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000361168 | ENST00000368346 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| In-frame | ENST00000361168 | ENST00000392403 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| 5CDS-intron | ENST00000361168 | ENST00000548830 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| In-frame | ENST00000368361 | ENST00000368346 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| In-frame | ENST00000368361 | ENST00000392403 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| 5CDS-intron | ENST00000368361 | ENST00000548830 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| In-frame | ENST00000355560 | ENST00000368346 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| In-frame | ENST00000355560 | ENST00000392403 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| 5CDS-intron | ENST00000355560 | ENST00000548830 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| 5UTR-3CDS | ENST00000497188 | ENST00000368346 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| 5UTR-3CDS | ENST00000497188 | ENST00000392403 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| 5UTR-intron | ENST00000497188 | ENST00000548830 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| Frame-shift | ENST00000536801 | ENST00000368346 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| Frame-shift | ENST00000536801 | ENST00000392403 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
| 5CDS-intron | ENST00000536801 | ENST00000548830 | CLK2 | chr1 | 155236520 | - | ASH1L | chr1 | 155313533 | - |
Top |
FusionProtFeatures for CLK2_ASH1L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CLK2 | ASH1L |
| 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}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | CLK2 | chr1:155236520 | chr1:155313533 | ENST00000361168 | - | 7 | 13 | 169_177 | 278 | 499 | Nucleotide binding | ATP |
| Hgene | CLK2 | chr1:155236520 | chr1:155313533 | ENST00000368361 | - | 7 | 13 | 169_177 | 279 | 500 | Nucleotide binding | ATP |
| Hgene | CLK2 | chr1:155236520 | chr1:155313533 | ENST00000536801 | - | 7 | 13 | 169_177 | 279 | 500 | Nucleotide binding | ATP |
| Tgene | >ASH1L | chr1:155236520 | chr1:155313533 | ENST00000392403 | - | 21 | 28 | 2661_2798 | 2660 | 2965 | Domain | BAH |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | >CLK2 | chr1:155236520 | chr1:155313533 | ENST00000361168 | - | 7 | 13 | 163_479 | 278 | 499 | Domain | Protein kinase |
| Hgene | >CLK2 | chr1:155236520 | chr1:155313533 | ENST00000368361 | - | 7 | 13 | 163_479 | 279 | 500 | Domain | Protein kinase |
| Hgene | >CLK2 | chr1:155236520 | chr1:155313533 | ENST00000536801 | - | 7 | 13 | 163_479 | 279 | 500 | Domain | Protein kinase |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000368346 | - | 21 | 28 | 1380_1424 | 2665 | 2970 | Compositional bias | Note=Pro-rich |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000368346 | - | 21 | 28 | 1580_1791 | 2665 | 2970 | Compositional bias | Note=Ser-rich |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000392403 | - | 21 | 28 | 1380_1424 | 2660 | 2965 | Compositional bias | Note=Pro-rich |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000392403 | - | 21 | 28 | 1580_1791 | 2660 | 2965 | Compositional bias | Note=Ser-rich |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000368346 | - | 21 | 28 | 1347_1359 | 2665 | 2970 | DNA binding | Note=A.T hook 2 |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000368346 | - | 21 | 28 | 1847_1859 | 2665 | 2970 | DNA binding | Note=A.T hook 3 |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000368346 | - | 21 | 28 | 887_899 | 2665 | 2970 | DNA binding | Note=A.T hook 1 |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000392403 | - | 21 | 28 | 1347_1359 | 2660 | 2965 | DNA binding | Note=A.T hook 2 |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000392403 | - | 21 | 28 | 1847_1859 | 2660 | 2965 | DNA binding | Note=A.T hook 3 |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000392403 | - | 21 | 28 | 887_899 | 2660 | 2965 | DNA binding | Note=A.T hook 1 |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000368346 | - | 21 | 28 | 2091_2142 | 2665 | 2970 | Domain | AWS |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000368346 | - | 21 | 28 | 2145_2261 | 2665 | 2970 | Domain | SET |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000368346 | - | 21 | 28 | 2269_2285 | 2665 | 2970 | Domain | Post-SET |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000368346 | - | 21 | 28 | 2463_2533 | 2665 | 2970 | Domain | Bromo |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000368346 | - | 21 | 28 | 2661_2798 | 2665 | 2970 | Domain | BAH |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000392403 | - | 21 | 28 | 2091_2142 | 2660 | 2965 | Domain | AWS |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000392403 | - | 21 | 28 | 2145_2261 | 2660 | 2965 | Domain | SET |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000392403 | - | 21 | 28 | 2269_2285 | 2660 | 2965 | Domain | Post-SET |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000392403 | - | 21 | 28 | 2463_2533 | 2660 | 2965 | Domain | Bromo |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000368346 | - | 21 | 28 | 2069_2288 | 2665 | 2970 | Region | Note=Catalytic domain |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000392403 | - | 21 | 28 | 2069_2288 | 2660 | 2965 | Region | Note=Catalytic domain |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000368346 | - | 21 | 28 | 2585_2631 | 2665 | 2970 | Zinc finger | Note=PHD-type |
| Tgene | ASH1L | chr1:155236520 | chr1:155313533 | ENST00000392403 | - | 21 | 28 | 2585_2631 | 2660 | 2965 | Zinc finger | Note=PHD-type |
Top |
FusionGeneSequence for CLK2_ASH1L |
| 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). |
Top |
FusionGenePPI for CLK2_ASH1L |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| CLK2 | CLK3, 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, PTPN1 | ASH1L | HIST1H3A, H3F3A, SMAD7, THAP7, MORF4L1, PARD6A, SIKE1, MORF4L2, NXF2, CDX1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for CLK2_ASH1L |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for CLK2_ASH1L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ASH1L | C0023903 | Liver neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|