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Fusion gene ID: 6066 |
FusionGeneSummary for CCSER1_C12orf4 |
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Fusion gene information | Fusion gene name: CCSER1_C12orf4 | Fusion gene ID: 6066 | Hgene | Tgene | Gene symbol | CCSER1 | C12orf4 | Gene ID | 401145 | 57102 |
Gene name | coiled-coil serine rich protein 1 | chromosome 12 open reading frame 4 | |
Synonyms | FAM190A | - | |
Cytomap | 4q22.1 | 12p13.32 | |
Type of gene | protein-coding | protein-coding | |
Description | serine-rich coiled-coil domain-containing protein 1family with sequence similarity 190, member Aprotein FAM190A | protein C12orf4 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q9C0I3 | Q9NQ89 | |
Ensembl transtripts involved in fusion gene | ENST00000509176, ENST00000333691, ENST00000432775, ENST00000504150, | ENST00000261250, ENST00000545746, ENST00000509318, | |
Fusion gene scores | * DoF score | 8 X 7 X 4=224 | 5 X 4 X 5=100 |
# samples | 8 | 5 | |
** MAII score | log2(8/224*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CCSER1 [Title/Abstract] AND C12orf4 [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 |
![]() (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 | BE082946 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
* 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 | ENST00000261250 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
intron-intron | ENST00000509176 | ENST00000545746 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
intron-intron | ENST00000509176 | ENST00000509318 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
intron-intron | ENST00000333691 | ENST00000261250 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
intron-intron | ENST00000333691 | ENST00000545746 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
intron-intron | ENST00000333691 | ENST00000509318 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
intron-intron | ENST00000432775 | ENST00000261250 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
intron-intron | ENST00000432775 | ENST00000545746 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
intron-intron | ENST00000432775 | ENST00000509318 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
intron-intron | ENST00000504150 | ENST00000261250 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
intron-intron | ENST00000504150 | ENST00000545746 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
intron-intron | ENST00000504150 | ENST00000509318 | CCSER1 | chr4 | 92254117 | + | C12orf4 | chr12 | 4639646 | - |
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FusionProtFeatures for CCSER1_C12orf4 |
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Hgene | Tgene |
CCSER1 | C12orf4 |
Plays a role in mast cell degranulation.{ECO:0000250|UniProtKB:D4A770}. |
![]() * 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_C12orf4 |
![]() (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_C12orf4 |
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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_C12orf4 |
![]() (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_C12orf4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CCSER1 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |