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Fusion gene ID: 18203 |
FusionGeneSummary for KATNAL1_WASF3 |
Fusion gene summary |
Fusion gene information | Fusion gene name: KATNAL1_WASF3 | Fusion gene ID: 18203 | Hgene | Tgene | Gene symbol | KATNAL1 | WASF3 | Gene ID | 84056 | 10810 |
Gene name | katanin catalytic subunit A1 like 1 | WAS protein family member 3 | |
Synonyms | - | Brush-1|SCAR3|WAVE3 | |
Cytomap | 13q12.3 | 13q12.13 | |
Type of gene | protein-coding | protein-coding | |
Description | katanin p60 ATPase-containing subunit A-like 1katanin catalytic subunit A like 1katanin p60 subunit A like 1p60 katanin-like 1 | wiskott-Aldrich syndrome protein family member 3WASP family Verprolin-homologous protein 3protein WAVE-3verprolin homology domain-containing protein 3 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9BW62 | Q9UPY6 | |
Ensembl transtripts involved in fusion gene | ENST00000380615, ENST00000380617, | ENST00000361042, ENST00000335327, ENST00000496788, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 1=4 |
# samples | 2 | 2 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: KATNAL1 [Title/Abstract] AND WASF3 [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 | KATNAL1 | GO:0051013 | microtubule severing | 26929214 |
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 | LD | BRCA | TCGA-E9-A248-01A | KATNAL1 | chr13 | 30881468 | - | WASF3 | chr13 | 27241654 | + |
* 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 |
5UTR-3CDS | ENST00000380615 | ENST00000361042 | KATNAL1 | chr13 | 30881468 | - | WASF3 | chr13 | 27241654 | + |
5UTR-3CDS | ENST00000380615 | ENST00000335327 | KATNAL1 | chr13 | 30881468 | - | WASF3 | chr13 | 27241654 | + |
5UTR-3UTR | ENST00000380615 | ENST00000496788 | KATNAL1 | chr13 | 30881468 | - | WASF3 | chr13 | 27241654 | + |
intron-3CDS | ENST00000380617 | ENST00000361042 | KATNAL1 | chr13 | 30881468 | - | WASF3 | chr13 | 27241654 | + |
intron-3CDS | ENST00000380617 | ENST00000335327 | KATNAL1 | chr13 | 30881468 | - | WASF3 | chr13 | 27241654 | + |
intron-3UTR | ENST00000380617 | ENST00000496788 | KATNAL1 | chr13 | 30881468 | - | WASF3 | chr13 | 27241654 | + |
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FusionProtFeatures for KATNAL1_WASF3 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
KATNAL1 | WASF3 |
Regulates microtubule dynamics in Sertoli cells, aprocess that is essential for spermiogenesis and male fertility.Severs microtubules in an ATP-dependent manner, promoting rapidreorganization of cellular microtubule arrays (By similarity). Hasmicrotubule-severing activity in vitro (PubMed:26929214).{ECO:0000250|UniProtKB:Q8K0T4, ECO:0000269|PubMed:26929214}. | Downstream effector molecules involved in thetransmission of signals from tyrosine kinase receptors and smallGTPases to the actin cytoskeleton. Plays a role in the regulationof cell morphology and cytoskeletal organization. Required in thecontrol of cell shape. {ECO:0000269|PubMed:17623672,ECO:0000269|PubMed:21834987}. |
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 KATNAL1_WASF3 |
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 KATNAL1_WASF3 |
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 |
KATNAL1 | COX17, ELAVL1, SIAH1, ZNF69, C1orf109, KATNBL1, KATNAL1, KLC4, CEP57L1, FBXW7 | WASF3 | ACTR3, RYK, CAMK2D, EGFR, NCK2, CYFIP2, WASL, ABI2, TIMM50, ABI1, NCKAP1, GTF2IRD1, BRK1, CMTR1, HOXB9, CCDC53, SLC9A3R2, CYFIP1, LPP, CD47, FRA10AC1, CENPF, SUPV3L1, KIAA1217 |
- 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 KATNAL1_WASF3 |
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 KATNAL1_WASF3 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | WASF3 | C3495559 | Juvenile arthritis | 1 | CTD_human |