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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: 10056

FusionGeneSummary for DLD_SCEL

check button Fusion gene summary
Fusion gene informationFusion gene name: DLD_SCEL
Fusion gene ID: 10056
HgeneTgene
Gene symbol

DLD

SCEL

Gene ID

60343

8796

Gene namefamily with sequence similarity 3 member Asciellin
Synonyms2.19|DLD|DXS560S|XAP-7-
Cytomap

Xq28

13q22.3

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM3Acytokine-like protein 2-19sciellin
Modification date2018052220180519
UniProtAcc

P09622

O95171

Ensembl transtripts involved in fusion geneENST00000205402, ENST00000537148, 
ENST00000440410, ENST00000437604, 
ENST00000494441, 
ENST00000535157, 
ENST00000377246, ENST00000349847, 
ENST00000469982, 
Fusion gene scores* DoF score4 X 4 X 4=643 X 3 X 3=27
# samples 43
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DLD [Title/Abstract] AND SCEL [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
HgeneDLD

GO:0019732

antifungal humoral response

18212107

HgeneDLD

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

18212107

HgeneDLD

GO:1905035

negative regulation of antifungal innate immune response

18212107

TgeneSCEL

GO:0030216

keratinocyte differentiation

14632196


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
TCGARVPRADTCGA-VN-A88L-01ADLDchr7

107531734

+SCELchr13

78171680

+
* 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
Frame-shitENST00000205402ENST00000535157DLDchr7

107531734

+SCELchr13

78171680

+
Frame-shitENST00000205402ENST00000377246DLDchr7

107531734

+SCELchr13

78171680

+
Frame-shitENST00000205402ENST00000349847DLDchr7

107531734

+SCELchr13

78171680

+
5CDS-3UTRENST00000205402ENST00000469982DLDchr7

107531734

+SCELchr13

78171680

+
5UTR-3CDSENST00000537148ENST00000535157DLDchr7

107531734

+SCELchr13

78171680

+
5UTR-3CDSENST00000537148ENST00000377246DLDchr7

107531734

+SCELchr13

78171680

+
5UTR-3CDSENST00000537148ENST00000349847DLDchr7

107531734

+SCELchr13

78171680

+
5UTR-3UTRENST00000537148ENST00000469982DLDchr7

107531734

+SCELchr13

78171680

+
Frame-shitENST00000440410ENST00000535157DLDchr7

107531734

+SCELchr13

78171680

+
Frame-shitENST00000440410ENST00000377246DLDchr7

107531734

+SCELchr13

78171680

+
Frame-shitENST00000440410ENST00000349847DLDchr7

107531734

+SCELchr13

78171680

+
5CDS-3UTRENST00000440410ENST00000469982DLDchr7

107531734

+SCELchr13

78171680

+
Frame-shitENST00000437604ENST00000535157DLDchr7

107531734

+SCELchr13

78171680

+
Frame-shitENST00000437604ENST00000377246DLDchr7

107531734

+SCELchr13

78171680

+
Frame-shitENST00000437604ENST00000349847DLDchr7

107531734

+SCELchr13

78171680

+
5CDS-3UTRENST00000437604ENST00000469982DLDchr7

107531734

+SCELchr13

78171680

+
intron-3CDSENST00000494441ENST00000535157DLDchr7

107531734

+SCELchr13

78171680

+
intron-3CDSENST00000494441ENST00000377246DLDchr7

107531734

+SCELchr13

78171680

+
intron-3CDSENST00000494441ENST00000349847DLDchr7

107531734

+SCELchr13

78171680

+
intron-3UTRENST00000494441ENST00000469982DLDchr7

107531734

+SCELchr13

78171680

+

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FusionProtFeatures for DLD_SCEL


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

P09622

SCEL

O95171

Lipoamide dehydrogenase is a component of the glycinecleavage system as well as an E3 component of three alpha-ketoaciddehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, andbranched-chain amino acid-dehydrogenase complex) (PubMed:15712224,PubMed:16442803, PubMed:16770810, PubMed:17404228,PubMed:20160912, PubMed:20385101). The 2-oxoglutaratedehydrogenase complex is mainly active in the mitochondrion(PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenasecomplex also localizes in the nucleus and is required for lysinesuccinylation of histones: associates with KAT2A on chromatin andprovides succinyl-CoA to histone succinyltransferase KAT2A(PubMed:29211711). In monomeric form may have additionalmoonlighting function as serine protease (PubMed:17404228).Involved in the hyperactivation of spermatazoa during capacitationand in the spermatazoal acrosome reaction (By similarity).{ECO:0000250|UniProtKB:Q811C4, ECO:0000269|PubMed:15712224,ECO:0000269|PubMed:16442803, ECO:0000269|PubMed:16770810,ECO:0000269|PubMed:17404228, ECO:0000269|PubMed:20160912,ECO:0000269|PubMed:20385101, ECO:0000269|PubMed:29211711}. May function in the assembly or regulation of proteinsin the cornified envelope. The LIM domain may be involved inhomotypic or heterotypic associations and may function to localizesciellin to the cornified envelope.

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 DLD_SCEL


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 DLD_SCEL


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
DLDOGDH, PSMD4, SIRT7, SLC2A4, DBT, DLAT, NDUFB5, NDUFA9, UQCRC2, UBAP2, MRPL13, MRPL11, ETFB, MRPL23, MRPL37, AK2, UQCRC1, NONO, MRPL42, GGH, FN1, ATF2, CKB, ASS1, CNDP2, DPP3, PEPD, TNFAIP8, LDHA, RPL23, ASB15, HUWE1, FUS, SIAH1, PDHB, DLST, OGDHL, HLTF, PDK3, SORL1, PARS2, PDHA1, NFS1, FBXO21, BTRC, FBXW11, DHTKD1, MRPS36, SIAH2, C7orf55, PCBP3, PDHX, SLX4IP, AIFM1, ALDOC, ATP1B1, CAPZB, CTH, ACAT1, ATP1B3, CSTF1, HSD17B10, NDUFS2, SDHA, VTA1, FH, HNRNPH2, HSDL2, ISYNA1, MRPL9, NUDT21, SDHB, SNX12, STIP1, SUCLG2, TOMM40, UCHL3, NTRK1, STAT5B, HDAC6, PRDX2, EEF1B2, PTBP1, PSME3, RPA3, YARS, PDIA6, HSP90B1, EIF3I, SERBP1, HPRT1, YWHAE, UBE2N, ARF1, CACYBP, PCMT1, APRT, UBE2M, PSMD11, DCD, NAA50, RUVBL1, KCTD12, BANF1, CDK1, ETFA, SUB1, PRDX3, CCT8, PSMD2, EEF1G, PSMC4, EIF3G, IDH3A, PRDX6, CLTB, CCT2, OAT, C14orf166, YWHAQ, YWHAZ, YWHAB, SERPINH1, DTYMK, EEF2, MGME1, PSMC1, COPZ1, VCP, ARF4, OTUB1, PABPC1, HSD17B4, PSMD7, XRCC6, PPP1CA, LDHB, AP1B1, UBE2K, MTHFD2, EIF3B, EIF3F, COPE, RUVBL2, INIP, AP1S2, ACP1, TRAP1, SEC23A, NUDC, PSMC6, EEF1D, PSMD10, RPL30, PRKAR2A, PAFAH1B3, PPA1, EEF1E1, PBDC1, UBA1, DNAJA2, CAP1, DIABLO, PAICS, SF3B6, KPNB1, DARS, PSMD13, PSMC3, ATG3, TMPO, PGAM1, CDC42, MRPS18B, RANGAP1, BUB3, SAR1A, G3BP1, RPA2, RAB1A, GSTP1, PLS3, BAG2, H1FX, SHMT2, RTCB, PDCD6IP, SET, DYNC1LI1, EIF3M, POLR2H, ACTR1A, ACBD3, ABHD10, TTC4, CCT7, PSMD6, ILF2, NAA10, VAT1, EIF2S1, OLA1, EPRS, PDCL3, PTGES3, COPS4, TSFM, SKP1, YWHAG, RPL12, FAM98B, ANP32A, CHORDC1, HYOU1, SRP72, PPP2R1A, AP1M1, DCTPP1, UFM1, RBBP7, RBBP4, POLR1C, UCK2, PSPC1, COPS7B, RPA1, DYNLL1, MRPS22, PITPNB, IST1, POLR2C, S100A8, RARS, CDC37, TIMM13, AP3S1, ECHS1, ANXA7, MRPS31, DAP3, TRMT10C, EIF2B1, MTHFD1, ERH, STK26, TRIM28, SNX1, COPS8, API5, TXN, PRPS1, AIMP2, CSNK2B, NACA, RAB11A, MACROD1, EIF3K, CXCL14, PTMA, UBE2S, NFKBIE, CCDC124, MIF, SEPT2, YWHAH, IARS, FEN1, ACTN1, ARCN1, NHP2L1, H2AFV, SNX2, NAP1L1, NDUFS3, ADRM1, RPL27, EIF4A3, PFN1, PFN2, ACTN4, FASN, FBL, ELAVL1, LDHAL6A, CD3EAP, MCM4, NOLC1, STOML2, CPSF6, DDX1, JUP, RBMXL2, PSMC5, FMR1, RAB5C, RPL10A, ENO3, ETF1, EIF3C, ATXN10, XRCC5, PRPF19, FARSA, DKC1, DSP, PPM1G, DDX23, EIF3D, TPM1, SRRT, CTNNA1, SND1, AASDHPPT, AIMP1, PYCR2, MRPS35, GART, STRAP, TWF1, EIF2B2, PNN, CSTF3, CDK9, H2AFY, GALK1, MAT2A, DNAJA1, MAP2K2, MCM3, MCM6, SMARCE1, IRS4, HSPA4, DDX39B, HSPH1, SEPT7, RSL1D1, SUPT16H, PSMD3, EHD1, UBAP2L, LARP1, EIF2AK2, LARS, GATAD2A, EIF3A, QARS, EIF4G1, ELP2, DSC1, ZC3HAV1, BCLAF1, THRAP3, SMC3, COPA, HDLBP, ACIN1, PARK7, SOAT1, HIST1H2AE, HIST1H2AB, AK4, C21orf33, HIST1H2BD, HIST1H2BG, HIST1H2BF, HIST1H2BE, HIST1H2BI, HIST1H2BC, SMN1, SMN2, BOLA2, BOLA2BSCELTXNIP, APP, GOLGA2, KIFC3, NMI, FXR2, MTUS2, TSGA10, TSC22D2, CDH1, FRMD1, RAB11B


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 DLD_SCEL


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 DLD_SCEL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDLDC0268193NADH cytochrome B5 reductase deficiency8ORPHANET;UNIPROT