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Fusion gene ID: 7087 |
FusionGeneSummary for CHKA_PAK1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CHKA_PAK1 | Fusion gene ID: 7087 | Hgene | Tgene | Gene symbol | CHKA | PAK1 | Gene ID | 1119 | 5585 |
| Gene name | choline kinase alpha | protein kinase N1 | |
| Synonyms | CHK|CK|CKI|EK | DBK|PAK-1|PAK1|PKN|PKN-ALPHA|PRK1|PRKCL1 | |
| Cytomap | 11q13.2 | 19p13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | choline kinase alphaCHETK-alphaethanolamine kinase | serine/threonine-protein kinase N1protease-activated kinase 1protein kinase C-like 1protein kinase C-like PKNprotein kinase C-related kinase 1protein kinase PKN-alphaserine-threonine kinase Nserine/threonine protein kinase N | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P35790 | Q13153 | |
| Ensembl transtripts involved in fusion gene | ENST00000265689, ENST00000533728, ENST00000356135, | ENST00000356341, ENST00000530617, ENST00000278568, ENST00000528203, ENST00000525542, | |
| Fusion gene scores | * DoF score | 11 X 6 X 5=330 | 12 X 9 X 6=648 |
| # samples | 12 | 13 | |
| ** MAII score | log2(12/330*10)=-1.4594316186373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/648*10)=-2.31748218985617 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CHKA [Title/Abstract] AND PAK1 [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 |
| Hgene | CHKA | GO:0006646 | phosphatidylethanolamine biosynthetic process | 19915674 |
| Hgene | CHKA | GO:0006656 | phosphatidylcholine biosynthetic process | 19915674 |
| Tgene | PAK1 | GO:0006357 | regulation of transcription by RNA polymerase II | 12514133 |
| Tgene | PAK1 | GO:0006468 | protein phosphorylation | 17332740 |
| Tgene | PAK1 | GO:0035407 | histone H3-T11 phosphorylation | 18066052 |
| 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 | SKCM | TCGA-WE-A8ZN-06A | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| * 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 |
| Frame-shift | ENST00000265689 | ENST00000356341 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| Frame-shift | ENST00000265689 | ENST00000530617 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| Frame-shift | ENST00000265689 | ENST00000278568 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| Frame-shift | ENST00000265689 | ENST00000528203 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| 5CDS-intron | ENST00000265689 | ENST00000525542 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| intron-3CDS | ENST00000533728 | ENST00000356341 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| intron-3CDS | ENST00000533728 | ENST00000530617 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| intron-3CDS | ENST00000533728 | ENST00000278568 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| intron-3CDS | ENST00000533728 | ENST00000528203 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| intron-intron | ENST00000533728 | ENST00000525542 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| Frame-shift | ENST00000356135 | ENST00000356341 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| Frame-shift | ENST00000356135 | ENST00000530617 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| Frame-shift | ENST00000356135 | ENST00000278568 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| Frame-shift | ENST00000356135 | ENST00000528203 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
| 5CDS-intron | ENST00000356135 | ENST00000525542 | CHKA | chr11 | 67864486 | - | PAK1 | chr11 | 77085410 | - |
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FusionProtFeatures for CHKA_PAK1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CHKA | PAK1 |
| Has a key role in phospholipid biosynthesis and maycontribute to tumor cell growth. Catalyzes the first step inphosphatidylcholine biosynthesis. Contributes tophosphatidylethanolamine biosynthesis. Phosphorylates choline andethanolamine. Has higher activity with choline.{ECO:0000269|PubMed:19915674}. | Protein kinase involved in intracellular signalingpathways downstream of integrins and receptor-type kinases thatplays an important role in cytoskeleton dynamics, in celladhesion, migration, proliferation, apoptosis, mitosis, and invesicle-mediated transport processes. Can directly phosphorylateBAD and protects cells against apoptosis. Activated by interactionwith CDC42 and RAC1. Functions as GTPase effector that links theRho-related GTPases CDC42 and RAC1 to the JNK MAP kinase pathway.Phosphorylates and activates MAP2K1, and thereby mediatesactivation of downstream MAP kinases. Involved in thereorganization of the actin cytoskeleton, actin stress fibers andof focal adhesion complexes. Phosphorylates the tubulin chaperoneTBCB and thereby plays a role in the regulation of microtubulebiogenesis and organization of the tubulin cytoskeleton. Plays arole in the regulation of insulin secretion in response toelevated glucose levels. Part of a ternary complex that containsPAK1, DVL1 and MUSK that is important for MUSK-dependentregulation of AChR clustering during the formation of theneuromuscular junction (NMJ). Activity is inhibited in cellsundergoing apoptosis, potentially due to binding of CDC2L1 andCDC2L2. Phosphorylates MYL9/MLC2. Phosphorylates RAF1 at 'Ser-338'and 'Ser-339' resulting in: activation of RAF1, stimulation ofRAF1 translocation to mitochondria, phosphorylation of BAD byRAF1, and RAF1 binding to BCL2. Phosphorylates SNAI1 at 'Ser-246'promoting its transcriptional repressor activity by increasing itsaccumulation in the nucleus. In podocytes, promotes NR3C2 nuclearlocalization. Required for atypical chemokine receptor ACKR2-induced phosphorylation of LIMK1 and cofilin (CFL1) and for theup-regulation of ACKR2 from endosomal compartment to cellmembrane, increasing its efficiency in chemokine uptake anddegradation. In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3, maybe through CFL1phosphorylation and inactivation. Plays a role in RUFY3-mediatedfacilitating gastric cancer cells migration and invasion(PubMed:25766321). {ECO:0000269|PubMed:10551809,ECO:0000269|PubMed:11733498, ECO:0000269|PubMed:12624090,ECO:0000269|PubMed:12876277, ECO:0000269|PubMed:14585966,ECO:0000269|PubMed:15611088, ECO:0000269|PubMed:15831477,ECO:0000269|PubMed:15833848, ECO:0000269|PubMed:16278681,ECO:0000269|PubMed:17726028, ECO:0000269|PubMed:17989089,ECO:0000269|PubMed:22669945, ECO:0000269|PubMed:23633677,ECO:0000269|PubMed:25766321, ECO:0000269|PubMed:8805275,ECO:0000269|PubMed:9032240, ECO:0000269|PubMed:9395435,ECO:0000269|PubMed:9528787}. |
| 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 |
| - 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 |
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FusionGeneSequence for CHKA_PAK1 |
| 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 CHKA_PAK1 |
| 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 |
| CHKA | FCHSD2, SKP2, DEPTOR, APP, PSEN2 | PAK1 | ARHGEF2, ARPC1B, AKT1, RAC1, CDC42, CDK11A, ERBB2, ABI3, DYNLL1, PKLR, PLCG1, PAK1IP1, LIMK1, CDK5, RAF1, HGS, NCK1, ARHGEF7, MYLK, BAIAP2, NCK2, BMX, RHOJ, PAK1, SH3KBP1, HSP90AA1, YWHAG, YWHAZ, DYRK1B, ZBTB18, ZC3H7A, ZNF823, ZNF83, MYNN, C5orf42, ZNF418, HIST1H4A, TGM2, ARHGEF6, ELF3, GNB1, MAP3K1, MYO6, TGFBR1, TGFBR2, APP, CRIPAK, CHORDC1, ESR1, BAD, HIST1H3A, LYN, DYNLL2, PAK2, FBXO28, GIT1, SORBS3, BRSK1, EGFR, PYCARD, GIT2, H2AFX, SLC25A41, TAS2R41, ILKAP, PPAT, RELA, RHOU, SNW1, ICAM1, LPXN, FSD1, OR2K2, SOX2, SETX, FGB, PPM1A, PPP2CA, PPP1CA, MAPK14 |
| - 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 |
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RelatedDrugs for CHKA_PAK1 |
| 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 |
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RelatedDiseases for CHKA_PAK1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CHKA | C0080178 | Spina Bifida | 1 | CTD_human |
| Tgene | PAK1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | PAK1 | C0033687 | Proteinuria | 1 | CTD_human |
| Tgene | PAK1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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