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Fusion gene ID: 6069 |
FusionGeneSummary for CCSER1_NIPBL |
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Fusion gene information | Fusion gene name: CCSER1_NIPBL | Fusion gene ID: 6069 | Hgene | Tgene | Gene symbol | CCSER1 | NIPBL | Gene ID | 401145 | 25836 |
Gene name | coiled-coil serine rich protein 1 | NIPBL, cohesin loading factor | |
Synonyms | FAM190A | CDLS|CDLS1|IDN3|IDN3-B|Scc2 | |
Cytomap | 4q22.1 | 5p13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | serine-rich coiled-coil domain-containing protein 1family with sequence similarity 190, member Aprotein FAM190A | nipped-B-like proteinNipped-B homologSCC2 homologdelanginsister chromatid cohesion 2 homolog | |
Modification date | 20180519 | 20180527 | |
UniProtAcc | Q9C0I3 | Q6KC79 | |
Ensembl transtripts involved in fusion gene | ENST00000509176, ENST00000333691, ENST00000432775, ENST00000504150, | ENST00000282516, ENST00000448238, ENST00000504430, | |
Fusion gene scores | * DoF score | 8 X 7 X 4=224 | 7 X 7 X 4=196 |
# samples | 8 | 7 | |
** MAII score | log2(8/224*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CCSER1 [Title/Abstract] AND NIPBL [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 |
Tgene | NIPBL | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18854353 |
Tgene | NIPBL | GO:0031065 | positive regulation of histone deacetylation | 18854353 |
Tgene | NIPBL | GO:0045892 | negative regulation of transcription, DNA-templated | 18854353 |
Tgene | NIPBL | GO:0071921 | cohesin loading | 22628566 |
![]() (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 |
ChiTaRS3.1 | AW369457 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
* 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 |
intron-intron | ENST00000509176 | ENST00000282516 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
intron-intron | ENST00000509176 | ENST00000448238 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
intron-intron | ENST00000509176 | ENST00000504430 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
intron-intron | ENST00000333691 | ENST00000282516 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
intron-intron | ENST00000333691 | ENST00000448238 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
intron-intron | ENST00000333691 | ENST00000504430 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
intron-intron | ENST00000432775 | ENST00000282516 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
intron-intron | ENST00000432775 | ENST00000448238 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
intron-intron | ENST00000432775 | ENST00000504430 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
intron-intron | ENST00000504150 | ENST00000282516 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
intron-intron | ENST00000504150 | ENST00000448238 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
intron-intron | ENST00000504150 | ENST00000504430 | CCSER1 | chr4 | 91850207 | + | NIPBL | chr5 | 37037966 | + |
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FusionProtFeatures for CCSER1_NIPBL |
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Hgene | Tgene |
CCSER1 | NIPBL |
Plays an important role in the loading of the cohesincomplex on to DNA. Forms a heterodimeric complex (also known ascohesin loading complex) with MAU2/SCC4 which mediates the loadingof the cohesin complex onto chromatin (PubMed:22628566,PubMed:28914604). Plays a role in cohesin loading at sites of DNAdamage. Its recruitement to double-strand breaks (DSBs) sitesoccurs in a CBX3-, RNF8- and RNF168-dependent manner whereas itsrecruitement to UV irradiation-induced DNA damage sites occurs ina ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679).Along with ZNF609, promotes cortical neuron migration during braindevelopment by regulating the transcription of crucial genes inthis process. Preferentially binds promoters containing paused RNApolymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1and GABBR2 genes, among others (By similarity).{ECO:0000250|UniProtKB:Q6KCD5, ECO:0000269|PubMed:22628566,ECO:0000269|PubMed:28167679, ECO:0000269|PubMed:28914604}. |
![]() * 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 CCSER1_NIPBL |
![]() (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 CCSER1_NIPBL |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 CCSER1_NIPBL |
![]() (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 CCSER1_NIPBL |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CCSER1 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
Tgene | NIPBL | C0270972 | Cornelia De Lange Syndrome | 9 | CTD_human;ORPHANET;UNIPROT |
Tgene | NIPBL | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
Tgene | NIPBL | C0018798 | Congenital Heart Defects | 1 | CTD_human |
Tgene | NIPBL | C0260662 | Hearing problem | 1 | CTD_human |
Tgene | NIPBL | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |