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Fusion Protein:SAMHD1-HCK |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: SAMHD1-HCK | FusionPDB ID: 79113 | FusionGDB2.0 ID: 79113 | Hgene | Tgene | Gene symbol | SAMHD1 | HCK | Gene ID | 25939 | 3055 |
Gene name | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | HCK proto-oncogene, Src family tyrosine kinase | |
Synonyms | CHBL2|DCIP|HDDC1|MOP-5|SBBI88|hSAMHD1 | JTK9|p59Hck|p61Hck | |
Cytomap | 20q11.23 | 20q11.21 | |
Type of gene | protein-coding | protein-coding | |
Description | deoxynucleoside triphosphate triphosphohydrolase SAMHD1SAM domain and HD domain 1SAM domain and HD domain-containing protein 1dNTPasedendritic cell-derived IFNG-induced proteinmonocyte protein 5 | tyrosine-protein kinase HCKhematopoietic cell kinasehemopoietic cell kinasep59-HCK/p60-HCK | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | . | P08631 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000262878, ENST00000373694, | ENST00000375852, ENST00000375862, ENST00000518730, ENST00000520553, ENST00000538448, ENST00000534862, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 8 X 9 X 7=504 | 10 X 10 X 7=700 |
# samples | 9 | 14 | |
** MAII score | log2(9/504*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/700*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: SAMHD1 [Title/Abstract] AND HCK [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SAMHD1(35563432)-HCK(30659465), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | SAMHD1-HCK seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. SAMHD1-HCK seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. SAMHD1-HCK seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. SAMHD1-HCK seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 | SAMHD1 | GO:0000724 | double-strand break repair via homologous recombination | 28834754|29670289 |
Hgene | SAMHD1 | GO:0006203 | dGTP catabolic process | 24217394 |
Hgene | SAMHD1 | GO:0006974 | cellular response to DNA damage stimulus | 28834754|29670289 |
Hgene | SAMHD1 | GO:0009264 | deoxyribonucleotide catabolic process | 23601106|26294762 |
Hgene | SAMHD1 | GO:0045088 | regulation of innate immune response | 29670289 |
Hgene | SAMHD1 | GO:0046061 | dATP catabolic process | 24141705 |
Hgene | SAMHD1 | GO:0051289 | protein homotetramerization | 23601106|24217394|26294762 |
Hgene | SAMHD1 | GO:0051607 | defense response to virus | 23601106|26294762 |
Hgene | SAMHD1 | GO:0060339 | negative regulation of type I interferon-mediated signaling pathway | 29670289 |
Hgene | SAMHD1 | GO:0110025 | DNA strand resection involved in replication fork processing | 28834754|29670289 |
Tgene | HCK | GO:0071801 | regulation of podosome assembly | 15998323 |
Tgene | HCK | GO:2000251 | positive regulation of actin cytoskeleton reorganization | 15998323 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-CG-4443-01A | SAMHD1 | chr20 | 35563432 | - | HCK | chr20 | 30659465 | + |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000262878 | SAMHD1 | chr20 | 35563432 | - | ENST00000534862 | HCK | chr20 | 30659465 | + | 2561 | 709 | 173 | 2227 | 684 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000262878 | ENST00000534862 | SAMHD1 | chr20 | 35563432 | - | HCK | chr20 | 30659465 | + | 0.005528295 | 0.9944718 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >79113_79113_1_SAMHD1-HCK_SAMHD1_chr20_35563432_ENST00000262878_HCK_chr20_30659465_ENST00000534862_length(amino acids)=684AA_BP=179 MLCRTPGVAMQRADSEQPSKRPRCDDSPRTPSNTPSAEADWSPGLELHPDYKTWGPEQVCSFLRRGGFEEPVLLKNIRENEITGALLPCL DESRFENLGVSSLGERKKLLSYIQRLVQIHVDTMKVINDPIHGHIELHPLLVRIIDTPQFQRLRYIKQLGGGYYVFPGASHNRFEHSLGM GCMKSKFLQVGGNTFSKTETSASPHCPVYVPDPTSTIKPGPNSHNSNTPGIREAGSEDIIVVALYDYEAIHHEDLSFQKGDQMVVLEESG EWWKARSLATRKEGYIPSNYVARVDSLETEEWFFKGISRKDAERQLLAPGNMLGSFMIRDSETTKGSYSLSVRDYDPRQGDTVKHYKIRT LDNGGFYISPRSTFSTLQELVDHYKKGNDGLCQKLSVPCMSSKPQKPWEKDAWEIPRESLKLEKKLGAGQFGEVWMATYNKHTKVAVKTM KPGSMSVEAFLAEANVMKTLQHDKLVKLHAVVTKEPIYIITEFMAKGSLLDFLKSDEGSKQPLPKLIDFSAQIAEGMAFIEQRNYIHRDL RAANILVSASLVCKIADFGLARVIEDNEYTAREGAKFPIKWTAPEAINFGSFTIKSDVWSFGILLMEIVTYGRIPYPGMSNPEVIRALER -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:35563432/chr20:30659465) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | HCK |
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Non-receptor tyrosine-protein kinase found in hematopoietic cells that transmits signals from cell surface receptors and plays an important role in the regulation of innate immune responses, including neutrophil, monocyte, macrophage and mast cell functions, phagocytosis, cell survival and proliferation, cell adhesion and migration. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as FCGR1A and FCGR2A, but also CSF3R, PLAUR, the receptors for IFNG, IL2, IL6 and IL8, and integrins, such as ITGB1 and ITGB2. During the phagocytic process, mediates mobilization of secretory lysosomes, degranulation, and activation of NADPH oxidase to bring about the respiratory burst. Plays a role in the release of inflammatory molecules. Promotes reorganization of the actin cytoskeleton and actin polymerization, formation of podosomes and cell protrusions. Inhibits TP73-mediated transcription activation and TP73-mediated apoptosis. Phosphorylates CBL in response to activation of immunoglobulin gamma Fc region receptors. Phosphorylates ADAM15, BCR, ELMO1, FCGR2A, GAB1, GAB2, RAPGEF1, STAT5B, TP73, VAV1 and WAS. {ECO:0000269|PubMed:10092522, ECO:0000269|PubMed:10779760, ECO:0000269|PubMed:10973280, ECO:0000269|PubMed:11741929, ECO:0000269|PubMed:11896602, ECO:0000269|PubMed:12411494, ECO:0000269|PubMed:15010462, ECO:0000269|PubMed:15952790, ECO:0000269|PubMed:15998323, ECO:0000269|PubMed:17310994, ECO:0000269|PubMed:17535448, ECO:0000269|PubMed:19114024, ECO:0000269|PubMed:19903482, ECO:0000269|PubMed:20452982, ECO:0000269|PubMed:21338576, ECO:0000269|PubMed:7535819, ECO:0000269|PubMed:8132624, ECO:0000269|PubMed:9406996, ECO:0000269|PubMed:9407116}. |
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- 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 |
Hgene | SAMHD1 | chr20:35563432 | chr20:30659465 | ENST00000262878 | - | 4 | 16 | 45_110 | 169.66666666666666 | 627.0 | Domain | SAM |
Hgene | SAMHD1 | chr20:35563432 | chr20:30659465 | ENST00000262878 | - | 4 | 16 | 137_145 | 169.66666666666666 | 627.0 | Nucleotide binding | GTP |
Tgene | HCK | chr20:35563432 | chr20:30659465 | ENST00000518730 | 0 | 13 | 144_241 | 0 | 505.0 | Domain | SH2 | |
Tgene | HCK | chr20:35563432 | chr20:30659465 | ENST00000518730 | 0 | 13 | 262_515 | 0 | 505.0 | Domain | Protein kinase | |
Tgene | HCK | chr20:35563432 | chr20:30659465 | ENST00000518730 | 0 | 13 | 78_138 | 0 | 505.0 | Domain | SH3 | |
Tgene | HCK | chr20:35563432 | chr20:30659465 | ENST00000520553 | 0 | 13 | 144_241 | 0 | 506.0 | Domain | SH2 | |
Tgene | HCK | chr20:35563432 | chr20:30659465 | ENST00000520553 | 0 | 13 | 262_515 | 0 | 506.0 | Domain | Protein kinase | |
Tgene | HCK | chr20:35563432 | chr20:30659465 | ENST00000520553 | 0 | 13 | 78_138 | 0 | 506.0 | Domain | SH3 | |
Tgene | HCK | chr20:35563432 | chr20:30659465 | ENST00000538448 | 1 | 14 | 144_241 | 0 | 506.0 | Domain | SH2 | |
Tgene | HCK | chr20:35563432 | chr20:30659465 | ENST00000538448 | 1 | 14 | 262_515 | 0 | 506.0 | Domain | Protein kinase | |
Tgene | HCK | chr20:35563432 | chr20:30659465 | ENST00000538448 | 1 | 14 | 78_138 | 0 | 506.0 | Domain | SH3 | |
Tgene | HCK | chr20:35563432 | chr20:30659465 | ENST00000518730 | 0 | 13 | 268_276 | 0 | 505.0 | Nucleotide binding | Note=ATP | |
Tgene | HCK | chr20:35563432 | chr20:30659465 | ENST00000520553 | 0 | 13 | 268_276 | 0 | 506.0 | Nucleotide binding | Note=ATP | |
Tgene | HCK | chr20:35563432 | chr20:30659465 | ENST00000538448 | 1 | 14 | 268_276 | 0 | 506.0 | Nucleotide binding | Note=ATP |
- 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 |
Hgene | SAMHD1 | chr20:35563432 | chr20:30659465 | ENST00000262878 | - | 4 | 16 | 164_316 | 169.66666666666666 | 627.0 | Domain | HD |
Hgene | SAMHD1 | chr20:35563432 | chr20:30659465 | ENST00000262878 | - | 4 | 16 | 352_354 | 169.66666666666666 | 627.0 | Nucleotide binding | dNTP |
Hgene | SAMHD1 | chr20:35563432 | chr20:30659465 | ENST00000262878 | - | 4 | 16 | 309_315 | 169.66666666666666 | 627.0 | Region | Substrate binding |
Hgene | SAMHD1 | chr20:35563432 | chr20:30659465 | ENST00000262878 | - | 4 | 16 | 370_375 | 169.66666666666666 | 627.0 | Region | Substrate binding |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
SAMHD1 | |
HCK |
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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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Related Drugs to SAMHD1-HCK |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to SAMHD1-HCK |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |