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Fusion gene ID: 12442 |
FusionGeneSummary for FAHD1_KLHDC4 |
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Fusion gene information | Fusion gene name: FAHD1_KLHDC4 | Fusion gene ID: 12442 | Hgene | Tgene | Gene symbol | FAHD1 | KLHDC4 | Gene ID | 81889 | 54758 |
Gene name | fumarylacetoacetate hydrolase domain containing 1 | kelch domain containing 4 | |
Synonyms | C16orf36|YISKL | - | |
Cytomap | 16p13.3 | 16q24.2 | |
Type of gene | protein-coding | protein-coding | |
Description | acylpyruvase FAHD1, mitochondrialFAH domain-containing protein 1OAA decarboxylaseYISK like/RJD15acylpyruvate hydrolasefumarylacetoacetate hydrolase domain-containing protein 1oxaloacetate decarboxylaseyisK-like protein | kelch domain-containing protein 4 | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q6P587 | Q8TBB5 | |
Ensembl transtripts involved in fusion gene | ENST00000382668, ENST00000382666, ENST00000427358, | ENST00000353170, ENST00000347925, ENST00000566349, ENST00000270583, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 3 X 3 X 2=18 |
# samples | 2 | 3 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: FAHD1 [Title/Abstract] AND KLHDC4 [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 | BE061963 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
* 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 |
intron-intron | ENST00000382668 | ENST00000353170 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
intron-intron | ENST00000382668 | ENST00000347925 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
intron-intron | ENST00000382668 | ENST00000566349 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
intron-intron | ENST00000382668 | ENST00000270583 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
intron-intron | ENST00000382666 | ENST00000353170 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
intron-intron | ENST00000382666 | ENST00000347925 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
intron-intron | ENST00000382666 | ENST00000566349 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
intron-intron | ENST00000382666 | ENST00000270583 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
intron-intron | ENST00000427358 | ENST00000353170 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
intron-intron | ENST00000427358 | ENST00000347925 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
intron-intron | ENST00000427358 | ENST00000566349 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
intron-intron | ENST00000427358 | ENST00000270583 | FAHD1 | chr16 | 1878972 | - | KLHDC4 | chr16 | 87767030 | - |
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FusionProtFeatures for FAHD1_KLHDC4 |
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Hgene | Tgene |
FAHD1 | KLHDC4 |
Probable mitochondrial acylpyruvase which is able tohydrolyze acetylpyruvate and fumarylpyruvate in vitro(PubMed:15551868, PubMed:21878618). Also has oxaloacetatedecarboxylase activity (PubMed:25575590).{ECO:0000269|PubMed:15551868, ECO:0000269|PubMed:21878618,ECO:0000269|PubMed:25575590}. |
![]() * 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 FAHD1_KLHDC4 |
![]() (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 FAHD1_KLHDC4 |
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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 FAHD1_KLHDC4 |
![]() (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 FAHD1_KLHDC4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FAHD1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |