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Fusion gene ID: 33522 |
FusionGeneSummary for SFTPB_MUC1 |
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Fusion gene information | Fusion gene name: SFTPB_MUC1 | Fusion gene ID: 33522 | Hgene | Tgene | Gene symbol | SFTPB | MUC1 | Gene ID | 6439 | 4582 |
Gene name | surfactant protein B | mucin 1, cell surface associated | |
Synonyms | PSP-B|SFTB3|SFTP3|SMDP1|SP-B | ADMCKD|ADMCKD1|CA 15-3|CD227|EMA|H23AG|KL-6|MAM6|MCD|MCKD|MCKD1|MUC-1|MUC-1/SEC|MUC-1/X|MUC1/ZD|PEM|PEMT|PUM | |
Cytomap | 2p11.2 | 1q22 | |
Type of gene | protein-coding | protein-coding | |
Description | pulmonary surfactant-associated protein B18 kDa pulmonary-surfactant protein6 kDa proteinpulmonary surfactant-associated proteolipid SPL(Phe) | mucin-1H23 antigenbreast carcinoma-associated antigen DF3cancer antigen 15-3carcinoma-associated mucinepisialinkrebs von den Lungen-6mucin 1, transmembranepeanut-reactive urinary mucinpolymorphic epithelial mucintumor associated epithelial mucin | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | P07988 | P15941 | |
Ensembl transtripts involved in fusion gene | ENST00000519937, ENST00000342375, ENST00000393822, ENST00000409383, | ENST00000368395, ENST00000338684, ENST00000438413, ENST00000457295, ENST00000462215, ENST00000368392, ENST00000368393, ENST00000368390, ENST00000368396, ENST00000343256, ENST00000368398, ENST00000368389, ENST00000342482, ENST00000337604, | |
Fusion gene scores | * DoF score | 15 X 13 X 2=390 | 4 X 5 X 2=40 |
# samples | 16 | 8 | |
** MAII score | log2(16/390*10)=-1.28540221886225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/40*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SFTPB [Title/Abstract] AND MUC1 [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 | MUC1 | GO:0006977 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | 15710329 |
Tgene | MUC1 | GO:0006978 | DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | 15710329 |
Tgene | MUC1 | GO:0010944 | negative regulation of transcription by competitive promoter binding | 15710329 |
Tgene | MUC1 | GO:0033629 | negative regulation of cell adhesion mediated by integrin | 7698991 |
Tgene | MUC1 | GO:0036003 | positive regulation of transcription from RNA polymerase II promoter in response to stress | 15710329 |
Tgene | MUC1 | GO:0043618 | regulation of transcription from RNA polymerase II promoter in response to stress | 15710329 |
Tgene | MUC1 | GO:0090240 | positive regulation of histone H4 acetylation | 15710329 |
Tgene | MUC1 | GO:1902166 | negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 15710329 |
![]() (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 |
TCGA | LD | LUAD | TCGA-69-8253-01A | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
* 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 |
Frame-shift | ENST00000519937 | ENST00000368395 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000338684 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000438413 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000457295 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000462215 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000368392 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000368393 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000368390 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000368396 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000343256 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000368398 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000368389 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000342482 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000519937 | ENST00000337604 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
Frame-shift | ENST00000342375 | ENST00000368395 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000338684 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000438413 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000457295 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000462215 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000368392 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000368393 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000368390 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000368396 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000343256 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000368398 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000368389 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000342482 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000342375 | ENST00000337604 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
Frame-shift | ENST00000393822 | ENST00000368395 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000338684 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000438413 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000457295 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000462215 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000368392 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000368393 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000368390 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000368396 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000343256 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000368398 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000368389 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000342482 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000393822 | ENST00000337604 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
Frame-shift | ENST00000409383 | ENST00000368395 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000338684 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000438413 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000457295 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000462215 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000368392 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000368393 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000368390 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000368396 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000343256 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000368398 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000368389 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000342482 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
5CDS-intron | ENST00000409383 | ENST00000337604 | SFTPB | chr2 | 85892412 | - | MUC1 | chr1 | 155160707 | - |
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FusionProtFeatures for SFTPB_MUC1 |
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Hgene | Tgene |
SFTPB | MUC1 |
Pulmonary surfactant-associated proteins promotealveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases thecollapse pressure of palmitic acid to nearly 70 millinewtons permeter. |
![]() * 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 SFTPB_MUC1 |
![]() (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 SFTPB_MUC1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SFTPB | MUC1 | APC, CTNNB1, GSK3B, LYN, ERBB2, JUP, GALNT4, GALNT12, GRB2, SOS1, SRC, CTNND1, ERBB3, ERBB4, EGFR, PRKCD, ESR1, IKBKB, IKBKG, TNFRSF1A, TP53, TBP, JUN, ABL1, IPO5, NUP62, PPARG, ATP6V0A2, ATP6V0A1, HBD, BMI1, TMEM199, ATP11C, TMEM59L, TMEM63B, MYADM, TMEM67, CCDC115, TNFSF9, ACTBL2, VAMP2, ACTA2 |
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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 SFTPB_MUC1 |
![]() (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 SFTPB_MUC1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SFTPB | C0019284 | Diaphragmatic Hernia | 2 | CTD_human |
Hgene | SFTPB | C0024115 | Lung diseases | 1 | CTD_human |
Hgene | SFTPB | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | SFTPB | C1968602 | Surfactant Metabolism Dysfunction, Pulmonary, 1 | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | MUC1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Tgene | MUC1 | C0025500 | Mesothelioma | 1 | CTD_human |
Tgene | MUC1 | C0026764 | Multiple Myeloma | 1 | CTD_human |
Tgene | MUC1 | C0031149 | Peritoneal Neoplasms | 1 | CTD_human |
Tgene | MUC1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | MUC1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Tgene | MUC1 | C1868139 | Medullary cystic kidney disease 1 | 1 | CTD_human |