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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: 712

FusionGeneSummary for ADAM9_ERCC8

check button Fusion gene summary
Fusion gene informationFusion gene name: ADAM9_ERCC8
Fusion gene ID: 712
HgeneTgene
Gene symbol

ADAM9

ERCC8

Gene ID

8754

1161

Gene nameADAM metallopeptidase domain 9ERCC excision repair 8, CSA ubiquitin ligase complex subunit
SynonymsCORD9|MCMP|MDC9|MltngCKN1|CSA|UVSS2
Cytomap

8p11.22

5q12.1

Type of geneprotein-codingprotein-coding
Descriptiondisintegrin and metalloproteinase domain-containing protein 9ADAM metallopeptidase domain 9 (meltrin gamma)cellular disintegrin-related proteincone rod dystrophy 9metalloprotease/disintegrin/cysteine-rich protein 9myeloma cell metalloproteinaseDNA 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 date2018051920180519
UniProtAcc

Q13443

Q13216

Ensembl transtripts involved in fusion geneENST00000487273, ENST00000466936, 
ENST00000481513, ENST00000484143, 
ENST00000426742, ENST00000265038, 
ENST00000462279, ENST00000543101, 
Fusion gene scores* DoF score13 X 7 X 9=8194 X 4 X 5=80
# samples 146
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneADAM9

GO:0000186

activation of MAPKK activity

17704059

HgeneADAM9

GO:0006509

membrane protein ectodomain proteolysis

9920899

HgeneADAM9

GO:0034612

response to tumor necrosis factor

11831872

HgeneADAM9

GO:0050714

positive regulation of protein secretion

17704059

TgeneERCC8

GO:0000209

protein polyubiquitination

12732143

TgeneERCC8

GO:0006283

transcription-coupled nucleotide-excision repair

12732143

TgeneERCC8

GO:0006974

cellular response to DNA damage stimulus

11782547

TgeneERCC8

GO:0006979

response to oxidative stress

11782547

TgeneERCC8

GO:0009411

response to UV

12732143

TgeneERCC8

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

16751180

TgeneERCC8

GO:0051865

protein autoubiquitination

12732143


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
TCGALDHNSCTCGA-CV-A45X-01AADAM9chr8

38948865

+ERCC8chr5

60224786

-
* 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-5UTRENST00000487273ENST00000426742ADAM9chr8

38948865

+ERCC8chr5

60224786

-
5CDS-5UTRENST00000487273ENST00000265038ADAM9chr8

38948865

+ERCC8chr5

60224786

-
5CDS-intronENST00000487273ENST00000462279ADAM9chr8

38948865

+ERCC8chr5

60224786

-
5CDS-5UTRENST00000487273ENST00000543101ADAM9chr8

38948865

+ERCC8chr5

60224786

-
intron-5UTRENST00000466936ENST00000426742ADAM9chr8

38948865

+ERCC8chr5

60224786

-
intron-5UTRENST00000466936ENST00000265038ADAM9chr8

38948865

+ERCC8chr5

60224786

-
intron-intronENST00000466936ENST00000462279ADAM9chr8

38948865

+ERCC8chr5

60224786

-
intron-5UTRENST00000466936ENST00000543101ADAM9chr8

38948865

+ERCC8chr5

60224786

-
intron-5UTRENST00000481513ENST00000426742ADAM9chr8

38948865

+ERCC8chr5

60224786

-
intron-5UTRENST00000481513ENST00000265038ADAM9chr8

38948865

+ERCC8chr5

60224786

-
intron-intronENST00000481513ENST00000462279ADAM9chr8

38948865

+ERCC8chr5

60224786

-
intron-5UTRENST00000481513ENST00000543101ADAM9chr8

38948865

+ERCC8chr5

60224786

-
intron-5UTRENST00000484143ENST00000426742ADAM9chr8

38948865

+ERCC8chr5

60224786

-
intron-5UTRENST00000484143ENST00000265038ADAM9chr8

38948865

+ERCC8chr5

60224786

-
intron-intronENST00000484143ENST00000462279ADAM9chr8

38948865

+ERCC8chr5

60224786

-
intron-5UTRENST00000484143ENST00000543101ADAM9chr8

38948865

+ERCC8chr5

60224786

-

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FusionProtFeatures for ADAM9_ERCC8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ADAM9

Q13443

ERCC8

Q13216

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}.

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 ADAM9_ERCC8


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 ADAM9_ERCC8


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
ADAM9MAD2L2, SH3GL2, SNX9, PRKCD, CDH1, RNF2, CD1B, FIGF, TMEM25, PTPRK, GPHA2, CLPSL1, NUDC, KIF2C, ITGAV, ITGB5, SCGB1D4, ADAM32, LYZL2, INSL5, SLAMF1, LYZL1ERCC8XAB2, 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


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 ADAM9_ERCC8


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 ADAM9_ERCC8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADAM9C0033578Prostatic Neoplasms1CTD_human
TgeneERCC8C0751039Cockayne Syndrome, Type I3ORPHANET;UNIPROT
TgeneERCC8C0009207Cockayne Syndrome2CTD_human
TgeneERCC8C3553298UV-SENSITIVE SYNDROME 21UNIPROT