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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: 9855

FusionGeneSummary for DHCR24_ERCC6L2

check button Fusion gene summary
Fusion gene informationFusion gene name: DHCR24_ERCC6L2
Fusion gene ID: 9855
HgeneTgene
Gene symbol

DHCR24

ERCC6L2

Gene ID

1718

375748

Gene name24-dehydrocholesterol reductaseERCC excision repair 6 like 2
SynonymsDCE|Nbla03646|SELADIN1|seladin-1BMFS2|C9orf102|RAD26L|SR278
Cytomap

1p32.3

9q22.32

Type of geneprotein-codingprotein-coding
Descriptiondelta(24)-sterol reductase3 beta-hydroxysterol delta 24-reductasedesmosterol-to-cholesterol enzymediminuto/dwarf1 homologseladin 1selective AD indicator 1DNA excision repair protein ERCC-6-like 2DNA repair and recombination protein RAD26-likeexcision repair cross-complementation group 6 like 2excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2putative repair and
Modification date2018052320180519
UniProtAcc

Q15392

Q5T890

Ensembl transtripts involved in fusion geneENST00000371269, ENST00000537443, 
ENST00000535035, 
ENST00000288985, 
ENST00000466840, ENST00000437817, 
ENST00000407474, 
Fusion gene scores* DoF score17 X 10 X 7=11902 X 2 X 1=4
# samples 242
** MAII scorelog2(24/1190*10)=-2.30985526258679
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: DHCR24 [Title/Abstract] AND ERCC6L2 [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
HgeneDHCR24

GO:0043066

negative regulation of apoptotic process

15688385

HgeneDHCR24

GO:0043154

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process

11007892


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
TCGALDPRADTCGA-HC-A6AN-01ADHCR24chr1

55341615

-ERCC6L2chr9

98732858

+
* 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
5CDS-intronENST00000371269ENST00000288985DHCR24chr1

55341615

-ERCC6L2chr9

98732858

+
5CDS-intronENST00000371269ENST00000466840DHCR24chr1

55341615

-ERCC6L2chr9

98732858

+
5CDS-intronENST00000371269ENST00000437817DHCR24chr1

55341615

-ERCC6L2chr9

98732858

+
5CDS-intronENST00000371269ENST00000407474DHCR24chr1

55341615

-ERCC6L2chr9

98732858

+
5UTR-intronENST00000537443ENST00000288985DHCR24chr1

55341615

-ERCC6L2chr9

98732858

+
5UTR-intronENST00000537443ENST00000466840DHCR24chr1

55341615

-ERCC6L2chr9

98732858

+
5UTR-intronENST00000537443ENST00000437817DHCR24chr1

55341615

-ERCC6L2chr9

98732858

+
5UTR-intronENST00000537443ENST00000407474DHCR24chr1

55341615

-ERCC6L2chr9

98732858

+
5CDS-intronENST00000535035ENST00000288985DHCR24chr1

55341615

-ERCC6L2chr9

98732858

+
5CDS-intronENST00000535035ENST00000466840DHCR24chr1

55341615

-ERCC6L2chr9

98732858

+
5CDS-intronENST00000535035ENST00000437817DHCR24chr1

55341615

-ERCC6L2chr9

98732858

+
5CDS-intronENST00000535035ENST00000407474DHCR24chr1

55341615

-ERCC6L2chr9

98732858

+

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FusionProtFeatures for DHCR24_ERCC6L2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DHCR24

Q15392

ERCC6L2

Q5T890

Catalyzes the reduction of the Delta-24 double bond ofsterol intermediates. Protects cells from oxidative stress byreducing caspase 3 activity during apoptosis induced by oxidativestress. Also protects against amyloid-beta peptide-inducedapoptosis. {ECO:0000269|PubMed:11007892,ECO:0000269|PubMed:11519011, ECO:0000269|PubMed:22010141}. May be involved in early DNA damage response.{ECO:0000269|PubMed:24507776}.

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 DHCR24_ERCC6L2


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 DHCR24_ERCC6L2


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
DHCR24TP53, UBL4A, EGFR, IKBKB, ACTA2, ATP12A, FUNDC2, REEP5, ERAP1, HRAS, LUZP1, GBA, SNCA, CKAP5, NANOG, POU5F1, COQ9, NDUFA4, CISD3, ATP6V0D1, PTPN1, PTPN5ERCC6L2NEK6, C7orf49


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 DHCR24_ERCC6L2


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 DHCR24_ERCC6L2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDHCR24C0002395Alzheimer's Disease1CTD_human
HgeneDHCR24C0034362Q Fever1CTD_human
HgeneDHCR24C1510586Autism Spectrum Disorders1CTD_human
HgeneDHCR24C1865596Desmosterolosis1CTD_human;ORPHANET;UNIPROT