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Fusion gene ID: 6262 |
FusionGeneSummary for CD74_SMAD3 |
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Fusion gene information | Fusion gene name: CD74_SMAD3 | Fusion gene ID: 6262 | Hgene | Tgene | Gene symbol | CD74 | SMAD3 | Gene ID | 972 | 4088 |
Gene name | CD74 molecule | SMAD family member 3 | |
Synonyms | DHLAG|HLADG|II|Ia-GAMMA | HSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3 | |
Cytomap | 5q33.1 | 15q22.33 | |
Type of gene | protein-coding | protein-coding | |
Description | HLA class II histocompatibility antigen gamma chainCD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)CD74 molecule, major histocompatibility complex, class II invariant chainHLA-DR antigens-associated | mothers against decapentaplegic homolog 3MAD homolog 3MAD, mothers against decapentaplegic homolog 3SMA- and MAD-related protein 3SMAD, mothers against DPP homolog 3hMAD-3hSMAD3mad homolog JV15-2mad protein homologmad3mothers against DPP homolog | |
Modification date | 20180522 | 20180522 | |
UniProtAcc | P04233 | P84022 | |
Ensembl transtripts involved in fusion gene | ENST00000377795, ENST00000353334, ENST00000524315, ENST00000009530, | ENST00000327367, ENST00000559092, ENST00000540846, ENST00000439724, ENST00000537194, | |
Fusion gene scores | * DoF score | 33 X 31 X 10=10230 | 4 X 6 X 3=72 |
# samples | 48 | 7 | |
** MAII score | log2(48/10230*10)=-4.41362792902417 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/72*10)=-0.0406419844973459 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CD74 [Title/Abstract] AND SMAD3 [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 | CD74 | GO:0001516 | prostaglandin biosynthetic process | 12782713 |
Hgene | CD74 | GO:0001934 | positive regulation of protein phosphorylation | 24942581 |
Hgene | CD74 | GO:0002792 | negative regulation of peptide secretion | 19849849 |
Hgene | CD74 | GO:0007165 | signal transduction | 12782713 |
Hgene | CD74 | GO:0008283 | cell proliferation | 12782713 |
Hgene | CD74 | GO:0033674 | positive regulation of kinase activity | 24942581 |
Hgene | CD74 | GO:0043066 | negative regulation of apoptotic process | 12782713 |
Hgene | CD74 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 24942581 |
Hgene | CD74 | GO:0043410 | positive regulation of MAPK cascade | 24942581 |
Hgene | CD74 | GO:0043518 | negative regulation of DNA damage response, signal transduction by p53 class mediator | 17045821 |
Hgene | CD74 | GO:0045657 | positive regulation of monocyte differentiation | 24942581 |
Hgene | CD74 | GO:0045893 | positive regulation of transcription, DNA-templated | 24942581 |
Hgene | CD74 | GO:0046598 | positive regulation of viral entry into host cell | 24942581 |
Hgene | CD74 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 17045821 |
Hgene | CD74 | GO:0051290 | protein heterotetramerization | 24942581 |
Hgene | CD74 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 17045821|24942581 |
Tgene | SMAD3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8774881 |
Tgene | SMAD3 | GO:0006357 | regulation of transcription by RNA polymerase II | 21947082 |
Tgene | SMAD3 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9732876|18548003|21947082 |
Tgene | SMAD3 | GO:0007183 | SMAD protein complex assembly | 9111321|10823886 |
Tgene | SMAD3 | GO:0010628 | positive regulation of gene expression | 21307346 |
Tgene | SMAD3 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 21307346 |
Tgene | SMAD3 | GO:0019049 | evasion or tolerance of host defenses by virus | 15334054 |
Tgene | SMAD3 | GO:0030308 | negative regulation of cell growth | 8774881 |
Tgene | SMAD3 | GO:0045429 | positive regulation of nitric oxide biosynthetic process | 27038547 |
Tgene | SMAD3 | GO:0045599 | negative regulation of fat cell differentiation | 19816956 |
Tgene | SMAD3 | GO:0045893 | positive regulation of transcription, DNA-templated | 9111321|9311995|9732876 |
Tgene | SMAD3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8774881|18832382 |
Tgene | SMAD3 | GO:0051481 | negative regulation of cytosolic calcium ion concentration | 27038547 |
Tgene | SMAD3 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 12902338 |
Tgene | SMAD3 | GO:1901203 | positive regulation of extracellular matrix assembly | 21307346 |
![]() (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 | BI003846 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
* 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-3UTR | ENST00000377795 | ENST00000327367 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
5CDS-intron | ENST00000377795 | ENST00000559092 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
5CDS-intron | ENST00000377795 | ENST00000540846 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
5CDS-intron | ENST00000377795 | ENST00000439724 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
5CDS-intron | ENST00000377795 | ENST00000537194 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-3UTR | ENST00000353334 | ENST00000327367 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-intron | ENST00000353334 | ENST00000559092 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-intron | ENST00000353334 | ENST00000540846 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-intron | ENST00000353334 | ENST00000439724 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-intron | ENST00000353334 | ENST00000537194 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-3UTR | ENST00000524315 | ENST00000327367 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-intron | ENST00000524315 | ENST00000559092 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-intron | ENST00000524315 | ENST00000540846 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-intron | ENST00000524315 | ENST00000439724 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-intron | ENST00000524315 | ENST00000537194 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-3UTR | ENST00000009530 | ENST00000327367 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-intron | ENST00000009530 | ENST00000559092 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-intron | ENST00000009530 | ENST00000540846 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-intron | ENST00000009530 | ENST00000439724 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
intron-intron | ENST00000009530 | ENST00000537194 | CD74 | chr5 | 149781198 | - | SMAD3 | chr15 | 67487371 | - |
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FusionProtFeatures for CD74_SMAD3 |
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Hgene | Tgene |
CD74 | SMAD3 |
![]() * 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 CD74_SMAD3 |
![]() (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 CD74_SMAD3 |
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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 CD74_SMAD3 |
![]() (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 CD74_SMAD3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CD74 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Hgene | CD74 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | CD74 | C0162557 | Liver Failure, Acute | 1 | CTD_human |
Hgene | CD74 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | SMAD3 | C0029408 | Degenerative polyarthritis | 2 | CTD_human |
Tgene | SMAD3 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
Tgene | SMAD3 | C3151087 | LOEYS-DIETZ SYNDROME 3 | 2 | ORPHANET;UNIPROT |
Tgene | SMAD3 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
Tgene | SMAD3 | C0003486 | Aortic Aneurysm | 1 | CTD_human;HPO |
Tgene | SMAD3 | C0010346 | Crohn Disease | 1 | CTD_human |
Tgene | SMAD3 | C0023267 | Fibroid Tumor | 1 | CTD_human |
Tgene | SMAD3 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Tgene | SMAD3 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
Tgene | SMAD3 | C0042138 | Uterine Neoplasms | 1 | CTD_human |
Tgene | SMAD3 | C0600519 | Ventricular Remodeling | 1 | CTD_human |
Tgene | SMAD3 | C2697932 | Loeys-Dietz Syndrome | 1 | CTD_human |
Tgene | SMAD3 | C3495559 | Juvenile arthritis | 1 | CTD_human |