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Fusion gene ID: 712 |
FusionGeneSummary for ADAM9_ERCC8 |
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Fusion gene information | Fusion gene name: ADAM9_ERCC8 | Fusion gene ID: 712 | Hgene | Tgene | Gene symbol | ADAM9 | ERCC8 | Gene ID | 8754 | 1161 |
Gene name | ADAM metallopeptidase domain 9 | ERCC excision repair 8, CSA ubiquitin ligase complex subunit | |
Synonyms | CORD9|MCMP|MDC9|Mltng | CKN1|CSA|UVSS2 | |
Cytomap | 8p11.22 | 5q12.1 | |
Type of gene | protein-coding | protein-coding | |
Description | disintegrin and metalloproteinase domain-containing protein 9ADAM metallopeptidase domain 9 (meltrin gamma)cellular disintegrin-related proteincone rod dystrophy 9metalloprotease/disintegrin/cysteine-rich protein 9myeloma cell metalloproteinase | DNA excision repair protein ERCC-8Cockayne syndrome WD-repeat protein CSAcockayne syndrome WD repeat protein CSAexcision repair cross-complementation group 8excision repair cross-complementing rodent repair deficiency, complementation group 8 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q13443 | Q13216 | |
Ensembl transtripts involved in fusion gene | ENST00000487273, ENST00000466936, ENST00000481513, ENST00000484143, | ENST00000426742, ENST00000265038, ENST00000462279, ENST00000543101, | |
Fusion gene scores | * DoF score | 13 X 7 X 9=819 | 4 X 4 X 5=80 |
# samples | 14 | 6 | |
** MAII score | log2(14/819*10)=-2.54843662469604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/80*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ADAM9 [Title/Abstract] AND ERCC8 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ADAM9 | GO:0000186 | activation of MAPKK activity | 17704059 |
Hgene | ADAM9 | GO:0006509 | membrane protein ectodomain proteolysis | 9920899 |
Hgene | ADAM9 | GO:0034612 | response to tumor necrosis factor | 11831872 |
Hgene | ADAM9 | GO:0050714 | positive regulation of protein secretion | 17704059 |
Tgene | ERCC8 | GO:0000209 | protein polyubiquitination | 12732143 |
Tgene | ERCC8 | GO:0006283 | transcription-coupled nucleotide-excision repair | 12732143 |
Tgene | ERCC8 | GO:0006974 | cellular response to DNA damage stimulus | 11782547 |
Tgene | ERCC8 | GO:0006979 | response to oxidative stress | 11782547 |
Tgene | ERCC8 | GO:0009411 | response to UV | 12732143 |
Tgene | ERCC8 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 16751180 |
Tgene | ERCC8 | GO:0051865 | protein autoubiquitination | 12732143 |
![]() (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 | LD | HNSC | TCGA-CV-A45X-01A | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
* 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 |
5CDS-5UTR | ENST00000487273 | ENST00000426742 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
5CDS-5UTR | ENST00000487273 | ENST00000265038 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
5CDS-intron | ENST00000487273 | ENST00000462279 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
5CDS-5UTR | ENST00000487273 | ENST00000543101 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
intron-5UTR | ENST00000466936 | ENST00000426742 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
intron-5UTR | ENST00000466936 | ENST00000265038 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
intron-intron | ENST00000466936 | ENST00000462279 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
intron-5UTR | ENST00000466936 | ENST00000543101 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
intron-5UTR | ENST00000481513 | ENST00000426742 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
intron-5UTR | ENST00000481513 | ENST00000265038 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
intron-intron | ENST00000481513 | ENST00000462279 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
intron-5UTR | ENST00000481513 | ENST00000543101 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
intron-5UTR | ENST00000484143 | ENST00000426742 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
intron-5UTR | ENST00000484143 | ENST00000265038 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
intron-intron | ENST00000484143 | ENST00000462279 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
intron-5UTR | ENST00000484143 | ENST00000543101 | ADAM9 | chr8 | 38948865 | + | ERCC8 | chr5 | 60224786 | - |
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FusionProtFeatures for ADAM9_ERCC8 |
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Hgene | Tgene |
ADAM9 | ERCC8 |
Cleaves and releases a number of molecules withimportant roles in tumorigenesis and angiogenesis, such as TEK,KDR, EPHB4, CD40, VCAM1 and CDH5. May mediate cell-cell, cell-matrix interactions and regulate the motility of cells viainteractions with integrins. {ECO:0000250|UniProtKB:Q61072}. Isoform 2: May act as alpha-secretase for amyloidprecursor protein (APP). {ECO:0000269|PubMed:12054541}. | Substrate-recognition component of the CSA complex, aDCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex,involved in transcription-coupled nucleotide excision repair. TheCSA complex (DCX(ERCC8) complex) promotes the ubiquitination andsubsequent proteasomal degradation of ERCC6 in a UV-dependentmanner; ERCC6 degradation is essential for the recovery of RNAsynthesis after transcription-coupled repair. It is required forthe recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blockinglesions from the transcribed strand of active genes.{ECO:0000269|PubMed:16751180, ECO:0000269|PubMed:16916636,ECO:0000269|PubMed:16964240}. |
![]() * 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 |
- 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 |
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FusionGeneSequence for ADAM9_ERCC8 |
![]() (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 ADAM9_ERCC8 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ADAM9 | MAD2L2, SH3GL2, SNX9, PRKCD, CDH1, RNF2, CD1B, FIGF, TMEM25, PTPRK, GPHA2, CLPSL1, NUDC, KIF2C, ITGAV, ITGB5, SCGB1D4, ADAM32, LYZL2, INSL5, SLAMF1, LYZL1 | ERCC8 | XAB2, COPS5, COPS6, DDB1, ERCC6, CSNK2B, POLR2A, EP300, HMGN1, DDB2, CUL4A, GPS1, RBX1, COPS2, COPS3, COPS4, COPS7A, COPS8, CUL4B, CUL5, GTF2H2, TP53, MDM2, OGG1, SSBP1, DDA1, RFWD2, TOP1, ZNF24, RUVBL2, UVSSA, PCNA, H1F0, VCP, UBXN7, PCGF1, DPPA4, BCOR, NANOG, POU5F1, PFDN4, TRIM25 |
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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 ADAM9_ERCC8 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ADAM9_ERCC8 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ADAM9 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | ERCC8 | C0751039 | Cockayne Syndrome, Type I | 3 | ORPHANET;UNIPROT |
Tgene | ERCC8 | C0009207 | Cockayne Syndrome | 2 | CTD_human |
Tgene | ERCC8 | C3553298 | UV-SENSITIVE SYNDROME 2 | 1 | UNIPROT |