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Fusion gene ID: 12584 |
FusionGeneSummary for FAM149B1_USP6NL |
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Fusion gene information | Fusion gene name: FAM149B1_USP6NL | Fusion gene ID: 12584 | Hgene | Tgene | Gene symbol | FAM149B1 | USP6NL | Gene ID | 317662 | 9712 |
Gene name | family with sequence similarity 149 member B1 | USP6 N-terminal like | |
Synonyms | KIAA0974 | RNTRE|TRE2NL|USP6NL-IT1 | |
Cytomap | 10q22.2 | 10p14 | |
Type of gene | protein-coding | protein-coding | |
Description | protein FAM149B1 | USP6 N-terminal-like proteinrelated to the N-terminus of tre | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q96BN6 | Q92738 | |
Ensembl transtripts involved in fusion gene | ENST00000242505, ENST00000607940, | ENST00000609104, ENST00000277575, ENST00000379237, ENST00000443016, ENST00000609853, | |
Fusion gene scores | * DoF score | 3 X 2 X 2=12 | 2 X 1 X 2=4 |
# samples | 3 | 2 | |
** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: FAM149B1 [Title/Abstract] AND USP6NL [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | USP6NL | GO:0043547 | positive regulation of GTPase activity | 17562788 |
![]() (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-AR-A254-01A | FAM149B1 | chr10 | 74968544 | + | USP6NL | chr10 | 11569566 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000242505 | ENST00000609104 | FAM149B1 | chr10 | 74968544 | + | USP6NL | chr10 | 11569566 | - |
Frame-shift | ENST00000242505 | ENST00000277575 | FAM149B1 | chr10 | 74968544 | + | USP6NL | chr10 | 11569566 | - |
Frame-shift | ENST00000242505 | ENST00000379237 | FAM149B1 | chr10 | 74968544 | + | USP6NL | chr10 | 11569566 | - |
5CDS-intron | ENST00000242505 | ENST00000443016 | FAM149B1 | chr10 | 74968544 | + | USP6NL | chr10 | 11569566 | - |
5CDS-intron | ENST00000242505 | ENST00000609853 | FAM149B1 | chr10 | 74968544 | + | USP6NL | chr10 | 11569566 | - |
intron-3CDS | ENST00000607940 | ENST00000609104 | FAM149B1 | chr10 | 74968544 | + | USP6NL | chr10 | 11569566 | - |
intron-3CDS | ENST00000607940 | ENST00000277575 | FAM149B1 | chr10 | 74968544 | + | USP6NL | chr10 | 11569566 | - |
intron-3CDS | ENST00000607940 | ENST00000379237 | FAM149B1 | chr10 | 74968544 | + | USP6NL | chr10 | 11569566 | - |
intron-intron | ENST00000607940 | ENST00000443016 | FAM149B1 | chr10 | 74968544 | + | USP6NL | chr10 | 11569566 | - |
intron-intron | ENST00000607940 | ENST00000609853 | FAM149B1 | chr10 | 74968544 | + | USP6NL | chr10 | 11569566 | - |
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FusionProtFeatures for FAM149B1_USP6NL |
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Hgene | Tgene |
FAM149B1 | USP6NL |
Acts as a GTPase-activating protein for RAB5A and RAB43.Involved in receptor trafficking. In complex with EPS8 inhibitsinternalization of EGFR. Involved in retrograde transport from theendocytic pathway to the Golgi apparatus. Involved in thetransport of Shiga toxin from early and recycling endosomes to thetrans-Golgi network. Required for structural integrity of theGolgi complex. {ECO:0000269|PubMed:11099046,ECO:0000269|PubMed:17562788, ECO:0000269|PubMed:17684057}. |
![]() * 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 FAM149B1_USP6NL |
![]() (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 FAM149B1_USP6NL |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
FAM149B1 | TBC1D32, CFAP20 | USP6NL | ACTN4, GRB2, APP, WWOX, SHMT2, NXF1, TMEM17, CCNA2, COMT, ANAPC15, UBE2S, CDH1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for FAM149B1_USP6NL |
![]() (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 FAM149B1_USP6NL |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | USP6NL | C0025202 | melanoma | 1 | CTD_human |