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Fusion gene ID: 12823 |
FusionGeneSummary for FAM50A_HK2 |
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Fusion gene information | Fusion gene name: FAM50A_HK2 | Fusion gene ID: 12823 | Hgene | Tgene | Gene symbol | FAM50A | HK2 | Gene ID | 9130 | 29911 |
Gene name | family with sequence similarity 50 member A | hook microtubule tethering protein 2 | |
Synonyms | 9F|DXS9928E|HXC-26|HXC26|XAP5 | HK2 | |
Cytomap | Xq28 | 19p13.13 | |
Type of gene | protein-coding | protein-coding | |
Description | protein FAM50Aprotein XAP-5 | protein Hook homolog 2h-hook2hHK2hook homolog 2 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q14320 | P52789 | |
Ensembl transtripts involved in fusion gene | ENST00000393600, | ENST00000290573, ENST00000409174, | |
Fusion gene scores | * DoF score | 4 X 4 X 1=16 | 2 X 2 X 2=8 |
# samples | 4 | 2 | |
** MAII score | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: FAM50A [Title/Abstract] AND HK2 [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 |
![]() (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 |
ChiTaRS3.1 | Z46376 | FAM50A | chrX | 153674037 | - | HK2 | chr2 | 75061284 | + |
* 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 |
5CDS-5UTR | ENST00000393600 | ENST00000290573 | FAM50A | chrX | 153674037 | - | HK2 | chr2 | 75061284 | + |
5CDS-intron | ENST00000393600 | ENST00000409174 | FAM50A | chrX | 153674037 | - | HK2 | chr2 | 75061284 | + |
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FusionProtFeatures for FAM50A_HK2 |
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Hgene | Tgene |
FAM50A | HK2 |
May be a DNA-binding protein or transcriptional factor.{ECO:0000269|PubMed:9339379}. |
![]() * 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 FAM50A_HK2 |
![]() (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 FAM50A_HK2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 FAM50A_HK2 |
![]() (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 FAM50A_HK2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | HK2 | C0028754 | Obesity | 1 | CTD_human |
Tgene | HK2 | C0151744 | Myocardial Ischemia | 1 | CTD_human |