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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: 5783

FusionGeneSummary for CCDC127_SDHA

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC127_SDHA
Fusion gene ID: 5783
HgeneTgene
Gene symbol

CCDC127

SDHA

Gene ID

133957

6389

Gene namecoiled-coil domain containing 127succinate dehydrogenase complex flavoprotein subunit A
Synonyms-CMD1GG|FP|PGL5|SDH1|SDH2|SDHF
Cytomap

5p15.33

5p15.33

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 127succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrialflavoprotein subunit of complex IIsuccinate dehydrogenase complex, subunit A, flavoprotein (Fp)
Modification date2018051920180523
UniProtAcc

Q96BQ5

P31040

Ensembl transtripts involved in fusion geneENST00000296824, ENST00000264932, 
ENST00000504309, ENST00000510361, 
ENST00000507522, 
Fusion gene scores* DoF score3 X 2 X 4=244 X 5 X 4=80
# samples 45
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC127 [Title/Abstract] AND SDHA [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TgeneSDHA

GO:0006105

succinate metabolic process

7550341

TgeneSDHA

GO:0022904

respiratory electron transport chain

7550341

TgeneSDHA

GO:0055114

oxidation-reduction process

7550341


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
TCGARVLGGTCGA-S9-A6UA-01ACCDC127chr5

216844

-SDHAchr5

233592

+
TCGARVLUSCTCGA-96-7544-01ACCDC127chr5

218208

-SDHAchr5

223597

+
* 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
In-frameENST00000296824ENST00000264932CCDC127chr5

216844

-SDHAchr5

233592

+
In-frameENST00000296824ENST00000504309CCDC127chr5

216844

-SDHAchr5

233592

+
In-frameENST00000296824ENST00000510361CCDC127chr5

216844

-SDHAchr5

233592

+
5CDS-intronENST00000296824ENST00000507522CCDC127chr5

216844

-SDHAchr5

233592

+
5UTR-3CDSENST00000296824ENST00000264932CCDC127chr5

218208

-SDHAchr5

223597

+
5UTR-3CDSENST00000296824ENST00000504309CCDC127chr5

218208

-SDHAchr5

223597

+
5UTR-3CDSENST00000296824ENST00000510361CCDC127chr5

218208

-SDHAchr5

223597

+
5UTR-intronENST00000296824ENST00000507522CCDC127chr5

218208

-SDHAchr5

223597

+

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FusionProtFeatures for CCDC127_SDHA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC127

Q96BQ5

SDHA

P31040

Flavoprotein (FP) subunit of succinate dehydrogenase(SDH) that is involved in complex II of the mitochondrial electrontransport chain and is responsible for transferring electrons fromsuccinate to ubiquinone (coenzyme Q) (PubMed:24781757). Can act asa tumor suppressor (PubMed:20484225).{ECO:0000269|PubMed:20484225, ECO:0000305|PubMed:24781757}.

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
TgeneSDHAchr5:216844chr5:233592ENST00000264932+615456_457298665Nucleotide bindingFAD

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCCDC127chr5:216844chr5:233592ENST00000296824-2349_13540261Coiled coilOntology_term=ECO:0000255
TgeneSDHAchr5:216844chr5:233592ENST00000264932+61568_73298665Nucleotide bindingFAD
TgeneSDHAchr5:216844chr5:233592ENST00000264932+61591_106298665Nucleotide bindingFAD


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FusionGeneSequence for CCDC127_SDHA


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 CCDC127_SDHA


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
CCDC127RNF11, MYO1C, VAPASDHAUBC, ICT1, CSNK2B, ARRB2, SIRT7, CUL3, CUL4A, CUL5, CUL2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, NEDD8, SDHB, SUCLA2, SUCLG1, SUCLG2, UQCRFS1, UQCRB, SYNE2, MTERF3, RAVER1, TIMM50, LRRC8A, MDH1, SAMM50, DHODH, TOMM70A, TAP1, TMEM14B, HIGD1A, NDUFS2, OXCT1, MRPL1, MRPS9, ZC3H4, NDUFS3, CYB5R3, NDUFS6, NDUFS8, NDUFV2, EIF4A1, XRCC6, MARC1, IMPAD1, ACAT1, GCN1L1, PSMD1, PROCR, SLC2A14, SLC27A2, SQSTM1, PDHA1, ATP5F1, NDUFV1, FN1, ITGA4, FBXO6, NXF1, APOA1BP, ATP1B1, CPNE1, CPNE3, CYC1, DLD, DNAJA3, HSPA9, HSPB1, MDH2, MTCH1, NDUFA2, PPIB, RAB14, ACLY, CS, GLOD4, SDHC, UQCRQ, NTRK1, HSPB2, CEP128, RPGRIP1L, TMEM67, SDHAF2, CRY1, CRY2, UBXN10, OTUB1, NFATC2, DUSP4, DUSP9, C6orf57, PDZRN3, PDSS2, PDSS1, PDP1, ACN9, SIRT3, ACAD9, WBP2, SEC22B, YWHAB, PPIA, MYL12A, HSD17B10, BANF1, CKB, ANXA5, SFXN1, LDHA, RPL30, HNRNPH3, EEF2, ATP1A1, HIST1H2AD, CCT2, EIF4A3, CCT8, RPL26, EEF1G, CDK1, SLC25A5, CHCHD2, RPN2, ATP5H, PPIAL4B, RPL12, LDHAL6A, LDHB, PDIA3, SLC25A3, ARL6IP5, PMVK, HMGB3, RAB10, CKAP4, HSP90B1, MAP4K1, SERPINH1, PSMC2, TMED10, PDIA6, RAB21, EEF1B2, CHCHD3, RUVBL2, TMED9, GANAB, UQCRC1, TMEM109, YWHAQ, YWHAZ, TFAM, YWHAG, SHMT2, PGAM1, YWHAE, PRDX3, MCM3, CCT7, TPI1, PPP2R1A, CANX, EMC2, LMNB2, EIF2S1, APEX1, ELAVL1, LMNA, NDFIP2, ATP6V0D1, DNAJB11, HLA-B, HLA-A, IDH3A, HNRNPA1, JUP, MAT2A, PSMC5, SERBP1, PSMC1, UQCRC2, PRPH, NAMPT, DARS, FARSA, ASNS, LMNB1, RPN1, TKT, SSRP1, DSP, MCM5, HSD17B4, DDX1, PCSK1, CPT1A, DGKG, MCM6, HSPA4, KPNB1, PSMD2, AARS2, TPR, SMC3, COPA, FASN, HDLBP, EPRS, HIST1H2AE, HIST1H2AB, HIST1H2BD, HIST1H2BG, HIST1H2BF, HIST1H2BE, HIST1H2BI, HIST1H2BC


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 CCDC127_SDHA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneSDHAP31040DB09270UbidecarenoneSuccinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrialsmall moleculeapproved|investigational|nutraceutical

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RelatedDiseases for CCDC127_SDHA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSDHAC0023264Leigh Disease3CTD_human;ORPHANET;UNIPROT
TgeneSDHAC1855008Mitochondrial Complex II Deficiency2CTD_human;ORPHANET;UNIPROT
TgeneSDHAC0029408Degenerative polyarthritis1CTD_human
TgeneSDHAC0036341Schizophrenia1PSYGENET
TgeneSDHAC3279992PARAGANGLIOMAS 51UNIPROT