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Fusion gene ID: 5783 |
FusionGeneSummary for CCDC127_SDHA |
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Fusion gene information | Fusion gene name: CCDC127_SDHA | Fusion gene ID: 5783 | Hgene | Tgene | Gene symbol | CCDC127 | SDHA | Gene ID | 133957 | 6389 |
Gene name | coiled-coil domain containing 127 | succinate dehydrogenase complex flavoprotein subunit A | |
Synonyms | - | CMD1GG|FP|PGL5|SDH1|SDH2|SDHF | |
Cytomap | 5p15.33 | 5p15.33 | |
Type of gene | protein-coding | protein-coding | |
Description | coiled-coil domain-containing protein 127 | succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrialflavoprotein subunit of complex IIsuccinate dehydrogenase complex, subunit A, flavoprotein (Fp) | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q96BQ5 | P31040 | |
Ensembl transtripts involved in fusion gene | ENST00000296824, | ENST00000264932, ENST00000504309, ENST00000510361, ENST00000507522, | |
Fusion gene scores | * DoF score | 3 X 2 X 4=24 | 4 X 5 X 4=80 |
# samples | 4 | 5 | |
** MAII score | log2(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 annotation | Tumor 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SDHA | GO:0006105 | succinate metabolic process | 7550341 |
Tgene | SDHA | GO:0022904 | respiratory electron transport chain | 7550341 |
Tgene | SDHA | GO:0055114 | oxidation-reduction process | 7550341 |
![]() (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 |
TCGA | RV | LGG | TCGA-S9-A6UA-01A | CCDC127 | chr5 | 216844 | - | SDHA | chr5 | 233592 | + |
TCGA | RV | LUSC | TCGA-96-7544-01A | CCDC127 | chr5 | 218208 | - | SDHA | chr5 | 223597 | + |
* 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 |
In-frame | ENST00000296824 | ENST00000264932 | CCDC127 | chr5 | 216844 | - | SDHA | chr5 | 233592 | + |
In-frame | ENST00000296824 | ENST00000504309 | CCDC127 | chr5 | 216844 | - | SDHA | chr5 | 233592 | + |
In-frame | ENST00000296824 | ENST00000510361 | CCDC127 | chr5 | 216844 | - | SDHA | chr5 | 233592 | + |
5CDS-intron | ENST00000296824 | ENST00000507522 | CCDC127 | chr5 | 216844 | - | SDHA | chr5 | 233592 | + |
5UTR-3CDS | ENST00000296824 | ENST00000264932 | CCDC127 | chr5 | 218208 | - | SDHA | chr5 | 223597 | + |
5UTR-3CDS | ENST00000296824 | ENST00000504309 | CCDC127 | chr5 | 218208 | - | SDHA | chr5 | 223597 | + |
5UTR-3CDS | ENST00000296824 | ENST00000510361 | CCDC127 | chr5 | 218208 | - | SDHA | chr5 | 223597 | + |
5UTR-intron | ENST00000296824 | ENST00000507522 | CCDC127 | chr5 | 218208 | - | SDHA | chr5 | 223597 | + |
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FusionProtFeatures for CCDC127_SDHA |
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Hgene | Tgene |
CCDC127 | SDHA |
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}. |
![]() * 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 |
Tgene | >SDHA | chr5:216844 | chr5:233592 | ENST00000264932 | + | 6 | 15 | 456_457 | 298 | 665 | Nucleotide binding | FAD |
- 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 |
Hgene | >CCDC127 | chr5:216844 | chr5:233592 | ENST00000296824 | - | 2 | 3 | 49_135 | 40 | 261 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | SDHA | chr5:216844 | chr5:233592 | ENST00000264932 | + | 6 | 15 | 68_73 | 298 | 665 | Nucleotide binding | FAD |
Tgene | SDHA | chr5:216844 | chr5:233592 | ENST00000264932 | + | 6 | 15 | 91_106 | 298 | 665 | Nucleotide binding | FAD |
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FusionGeneSequence for CCDC127_SDHA |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CCDC127 | RNF11, MYO1C, VAPA | SDHA | UBC, 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 |
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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 CCDC127_SDHA |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | SDHA | P31040 | DB09270 | Ubidecarenone | Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for CCDC127_SDHA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SDHA | C0023264 | Leigh Disease | 3 | CTD_human;ORPHANET;UNIPROT |
Tgene | SDHA | C1855008 | Mitochondrial Complex II Deficiency | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | SDHA | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Tgene | SDHA | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | SDHA | C3279992 | PARAGANGLIOMAS 5 | 1 | UNIPROT |