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Fusion gene ID: 7953 |
FusionGeneSummary for COL4A1_SMIM4 |
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Fusion gene information | Fusion gene name: COL4A1_SMIM4 | Fusion gene ID: 7953 | Hgene | Tgene | Gene symbol | COL4A1 | SMIM4 | Gene ID | 1282 | 440957 |
Gene name | collagen type IV alpha 1 chain | small integral membrane protein 4 | |
Synonyms | BSVD|RATOR | C3orf78 | |
Cytomap | 13q34 | 3p21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-1(IV) chainCOL4A1 NC1 domainarrestencollagen IV, alpha-1 polypeptidecollagen of basement membrane, alpha-1 chain | small integral membrane protein 4UPF0640 protein C3orf78 | |
Modification date | 20180527 | 20180329 | |
UniProtAcc | P02462 | Q8WVI0 | |
Ensembl transtripts involved in fusion gene | ENST00000375820, ENST00000543140, ENST00000467182, | ENST00000482728, ENST00000307106, ENST00000477703, ENST00000476842, | |
Fusion gene scores | * DoF score | 7 X 9 X 5=315 | 3 X 3 X 3=27 |
# samples | 9 | 3 | |
** MAII score | log2(9/315*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: COL4A1 [Title/Abstract] AND SMIM4 [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 | AK000903 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
* 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 | ENST00000375820 | ENST00000482728 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
intron-intron | ENST00000375820 | ENST00000307106 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
intron-intron | ENST00000375820 | ENST00000477703 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
intron-intron | ENST00000375820 | ENST00000476842 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
intron-intron | ENST00000543140 | ENST00000482728 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
intron-intron | ENST00000543140 | ENST00000307106 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
intron-intron | ENST00000543140 | ENST00000477703 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
intron-intron | ENST00000543140 | ENST00000476842 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
intron-intron | ENST00000467182 | ENST00000482728 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
intron-intron | ENST00000467182 | ENST00000307106 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
intron-intron | ENST00000467182 | ENST00000477703 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
intron-intron | ENST00000467182 | ENST00000476842 | COL4A1 | chr13 | 110885115 | - | SMIM4 | chr3 | 52570821 | + |
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FusionProtFeatures for COL4A1_SMIM4 |
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Hgene | Tgene |
COL4A1 | SMIM4 |
![]() * 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 COL4A1_SMIM4 |
![]() (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 COL4A1_SMIM4 |
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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 COL4A1_SMIM4 |
![]() (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 COL4A1_SMIM4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL4A1 | C4013035 | BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES | 8 | ORPHANET;UNIPROT |
Hgene | COL4A1 | C1867983 | PORENCEPHALY, FAMILIAL | 3 | ORPHANET;UNIPROT |
Hgene | COL4A1 | C2673195 | Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | 3 | CTD_human;ORPHANET;UNIPROT |
Hgene | COL4A1 | C0017668 | Focal glomerulosclerosis | 2 | CTD_human |
Hgene | COL4A1 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
Hgene | COL4A1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | COL4A1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
Hgene | COL4A1 | C0266484 | Schizencephaly | 1 | HPO;ORPHANET;UNIPROT |
Hgene | COL4A1 | C3281105 | HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO | 1 | UNIPROT |