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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:SAMHD1-HCK

Fusion Protein Summary

Fusion gene summary

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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

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

Fusion gene breakpoints across SAMHD1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across HCK (3'-gene)
* 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

Fusion gene information from FusionGDB2.0.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

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

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>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

Four levels of functional features of fusion genes
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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	HCK P08631
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}.

Retention 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.

- 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

45_110

169.66666666666666

627.0

Domain

SAM

Hgene

SAMHD1

chr20:35563432

chr20:30659465

ENST00000262878

137_145

169.66666666666666

627.0

Nucleotide binding

GTP

Tgene

HCK

chr20:35563432

chr20:30659465

ENST00000518730

144_241

505.0

Domain

SH2

Tgene

HCK

chr20:35563432

chr20:30659465

ENST00000518730

262_515

505.0

Domain

Protein kinase

Tgene

HCK

chr20:35563432

chr20:30659465

ENST00000518730

78_138

505.0

Domain

SH3

Tgene

HCK

chr20:35563432

chr20:30659465

ENST00000520553

144_241

506.0

Domain

SH2

Tgene

HCK

chr20:35563432

chr20:30659465

ENST00000520553

262_515

506.0

Domain

Protein kinase

Tgene

HCK

chr20:35563432

chr20:30659465

ENST00000520553

78_138

506.0

Domain

SH3

Tgene

HCK

chr20:35563432

chr20:30659465

ENST00000538448

144_241

506.0

Domain

SH2

Tgene

HCK

chr20:35563432

chr20:30659465

ENST00000538448

262_515

506.0

Domain

Protein kinase

Tgene

HCK

chr20:35563432

chr20:30659465

ENST00000538448

78_138

506.0

Domain

SH3

Tgene

HCK

chr20:35563432

chr20:30659465

ENST00000518730

268_276

505.0

Nucleotide binding

Note=ATP

Tgene

HCK

chr20:35563432

chr20:30659465

ENST00000520553

268_276

506.0

Nucleotide binding

Note=ATP

Tgene

HCK

chr20:35563432

chr20:30659465

ENST00000538448

268_276

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

164_316

169.66666666666666

627.0

Domain

Hgene

SAMHD1

chr20:35563432

chr20:30659465

ENST00000262878

352_354

169.66666666666666

627.0

Nucleotide binding

dNTP

Hgene

SAMHD1

chr20:35563432

chr20:30659465

ENST00000262878

309_315

169.66666666666666

627.0

Region

Substrate binding

Hgene

SAMHD1

chr20:35563432

chr20:30659465

ENST00000262878

370_375

169.66666666666666

627.0

Region

Substrate binding

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
SAMHD1
HCK

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

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

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to SAMHD1-HCK

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source