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Fusion gene ID: 37968 |
FusionGeneSummary for THBD_KLHL36 |
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Fusion gene information | Fusion gene name: THBD_KLHL36 | Fusion gene ID: 37968 | Hgene | Tgene | Gene symbol | THBD | KLHL36 | Gene ID | 7056 | 79786 |
Gene name | thrombomodulin | kelch like family member 36 | |
Synonyms | AHUS6|BDCA3|CD141|THPH12|THRM|TM | C16orf44 | |
Cytomap | 20p11.21 | 16q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | thrombomodulinCD141 antigenfetomodulin | kelch-like protein 36kelch-like 36 | |
Modification date | 20180522 | 20180522 | |
UniProtAcc | P07204 | Q8N4N3 | |
Ensembl transtripts involved in fusion gene | ENST00000377103, | ENST00000564996, ENST00000258157, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 1=4 |
# samples | 1 | 2 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: THBD [Title/Abstract] AND KLHL36 [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 | BF829221 | THBD | chr20 | 23026933 | + | KLHL36 | chr16 | 84698383 | + |
* 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 | ENST00000377103 | ENST00000564996 | THBD | chr20 | 23026933 | + | KLHL36 | chr16 | 84698383 | + |
intron-intron | ENST00000377103 | ENST00000258157 | THBD | chr20 | 23026933 | + | KLHL36 | chr16 | 84698383 | + |
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FusionProtFeatures for THBD_KLHL36 |
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Hgene | Tgene |
THBD | KLHL36 |
Thrombomodulin is a specific endothelial cell receptorthat forms a 1:1 stoichiometric complex with thrombin. Thiscomplex is responsible for the conversion of protein C to theactivated protein C (protein Ca). Once evolved, protein Cascissions the activated cofactors of the coagulation mechanism,factor Va and factor VIIIa, and thereby reduces the amount ofthrombin generated. | Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination andsubsequent proteasomal degradation of target proteins.{ECO:0000269|PubMed:14528312}. |
![]() * 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 THBD_KLHL36 |
![]() (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 THBD_KLHL36 |
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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 THBD_KLHL36 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | THBD | P07204 | DB01050 | Ibuprofen | Thrombomodulin | small molecule | approved |
Hgene | THBD | P07204 | DB09213 | Dexibuprofen | Thrombomodulin | small molecule | approved|investigational |
Hgene | THBD | P07204 | DB00055 | Drotrecogin alfa | Thrombomodulin | biotech | approved|investigational|withdrawn |
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RelatedDiseases for THBD_KLHL36 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | THBD | C2752036 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 | 4 | ORPHANET;UNIPROT |
Hgene | THBD | C3280976 | Thrombophilia due to Thrombomodulin Defect | 4 | ORPHANET;UNIPROT |
Hgene | THBD | C0027051 | Myocardial Infarction | 2 | CTD_human |
Hgene | THBD | C0040053 | Thrombosis | 2 | CTD_human |
Hgene | THBD | C0012739 | Disseminated Intravascular Coagulation | 1 | CTD_human |
Hgene | THBD | C0020429 | Hyperalgesia | 1 | CTD_human |
Hgene | THBD | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
Hgene | THBD | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | THBD | C0034065 | Pulmonary Embolism | 1 | CTD_human |
Hgene | THBD | C0034155 | Purpura, Thrombotic Thrombocytopenic | 1 | CTD_human |
Hgene | THBD | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
Hgene | THBD | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | THBD | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Hgene | THBD | C0398623 | Thrombophilia | 1 | CTD_human;HPO |
Hgene | THBD | C1850383 | Neuropathy, Painful | 1 | CTD_human |
Hgene | THBD | C2931788 | Atypical Hemolytic Uremic Syndrome | 1 | CTD_human |