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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 12442

FusionGeneSummary for FAHD1_KLHDC4

check button Fusion gene summary
Fusion gene informationFusion gene name: FAHD1_KLHDC4
Fusion gene ID: 12442
HgeneTgene
Gene symbol

FAHD1

KLHDC4

Gene ID

81889

54758

Gene namefumarylacetoacetate hydrolase domain containing 1kelch domain containing 4
SynonymsC16orf36|YISKL-
Cytomap

16p13.3

16q24.2

Type of geneprotein-codingprotein-coding
Descriptionacylpyruvase FAHD1, mitochondrialFAH domain-containing protein 1OAA decarboxylaseYISK like/RJD15acylpyruvate hydrolasefumarylacetoacetate hydrolase domain-containing protein 1oxaloacetate decarboxylaseyisK-like proteinkelch domain-containing protein 4
Modification date2018052220180519
UniProtAcc

Q6P587

Q8TBB5

Ensembl transtripts involved in fusion geneENST00000382668, ENST00000382666, 
ENST00000427358, 
ENST00000353170, 
ENST00000347925, ENST00000566349, 
ENST00000270583, 
Fusion gene scores* DoF score2 X 2 X 1=43 X 3 X 2=18
# samples 23
** MAII scorelog2(2/4*10)=2.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BE061963FAHD1chr16

1878972

-KLHDC4chr16

87767030

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000382668ENST00000353170FAHD1chr16

1878972

-KLHDC4chr16

87767030

-
intron-intronENST00000382668ENST00000347925FAHD1chr16

1878972

-KLHDC4chr16

87767030

-
intron-intronENST00000382668ENST00000566349FAHD1chr16

1878972

-KLHDC4chr16

87767030

-
intron-intronENST00000382668ENST00000270583FAHD1chr16

1878972

-KLHDC4chr16

87767030

-
intron-intronENST00000382666ENST00000353170FAHD1chr16

1878972

-KLHDC4chr16

87767030

-
intron-intronENST00000382666ENST00000347925FAHD1chr16

1878972

-KLHDC4chr16

87767030

-
intron-intronENST00000382666ENST00000566349FAHD1chr16

1878972

-KLHDC4chr16

87767030

-
intron-intronENST00000382666ENST00000270583FAHD1chr16

1878972

-KLHDC4chr16

87767030

-
intron-intronENST00000427358ENST00000353170FAHD1chr16

1878972

-KLHDC4chr16

87767030

-
intron-intronENST00000427358ENST00000347925FAHD1chr16

1878972

-KLHDC4chr16

87767030

-
intron-intronENST00000427358ENST00000566349FAHD1chr16

1878972

-KLHDC4chr16

87767030

-
intron-intronENST00000427358ENST00000270583FAHD1chr16

1878972

-KLHDC4chr16

87767030

-

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FusionProtFeatures for FAHD1_KLHDC4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAHD1

Q6P587

KLHDC4

Q8TBB5

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for FAHD1_KLHDC4


check button 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 FAHD1_KLHDC4


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for FAHD1_KLHDC4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for FAHD1_KLHDC4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFAHD1C0023893Liver Cirrhosis, Experimental1CTD_human