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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 37968

FusionGeneSummary for THBD_KLHL36

check button Fusion gene summary
Fusion gene informationFusion gene name: THBD_KLHL36
Fusion gene ID: 37968
HgeneTgene
Gene symbol

THBD

KLHL36

Gene ID

7056

79786

Gene namethrombomodulinkelch like family member 36
SynonymsAHUS6|BDCA3|CD141|THPH12|THRM|TMC16orf44
Cytomap

20p11.21

16q24.1

Type of geneprotein-codingprotein-coding
DescriptionthrombomodulinCD141 antigenfetomodulinkelch-like protein 36kelch-like 36
Modification date2018052220180522
UniProtAcc

P07204

Q8N4N3

Ensembl transtripts involved in fusion geneENST00000377103, ENST00000564996, 
ENST00000258157, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 1=4
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF829221THBDchr20

23026933

+KLHL36chr16

84698383

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000377103ENST00000564996THBDchr20

23026933

+KLHL36chr16

84698383

+
intron-intronENST00000377103ENST00000258157THBDchr20

23026933

+KLHL36chr16

84698383

+

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FusionProtFeatures for THBD_KLHL36


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
THBD

P07204

KLHL36

Q8N4N3

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}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for THBD_KLHL36


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for THBD_KLHL36


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneTHBDP07204DB01050IbuprofenThrombomodulinsmall moleculeapproved
HgeneTHBDP07204DB09213DexibuprofenThrombomodulinsmall moleculeapproved|investigational
HgeneTHBDP07204DB00055Drotrecogin alfaThrombomodulinbiotechapproved|investigational|withdrawn

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RelatedDiseases for THBD_KLHL36


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTHBDC2752036HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 64ORPHANET;UNIPROT
HgeneTHBDC3280976Thrombophilia due to Thrombomodulin Defect4ORPHANET;UNIPROT
HgeneTHBDC0027051Myocardial Infarction2CTD_human
HgeneTHBDC0040053Thrombosis2CTD_human
HgeneTHBDC0012739Disseminated Intravascular Coagulation1CTD_human
HgeneTHBDC0020429Hyperalgesia1CTD_human
HgeneTHBDC0023487Acute Promyelocytic Leukemia1CTD_human
HgeneTHBDC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneTHBDC0034065Pulmonary Embolism1CTD_human
HgeneTHBDC0034155Purpura, Thrombotic Thrombocytopenic1CTD_human
HgeneTHBDC0035222Respiratory Distress Syndrome, Adult1CTD_human
HgeneTHBDC0038356Stomach Neoplasms1CTD_human
HgeneTHBDC0041755Adverse reaction to drug1CTD_human
HgeneTHBDC0398623Thrombophilia1CTD_human;HPO
HgeneTHBDC1850383Neuropathy, Painful1CTD_human
HgeneTHBDC2931788Atypical Hemolytic Uremic Syndrome1CTD_human