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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:SAMHD1-HCK (FusionGDB2 ID:79113)

Fusion Gene Summary for SAMHD1-HCK

Fusion gene summary

Fusion gene information	Fusion gene name: SAMHD1-HCK
	Fusion gene 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	ENST00000262878, ENST00000373694,	ENST00000375852, ENST00000375862, ENST00000518730, ENST00000520553, ENST00000538448, ENST00000534862,
Fusion gene scores	* 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	PubMed: SAMHD1 [Title/Abstract] AND HCK [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	SAMHD1(35563432)-HCK(30659465), # samples:1
Anticipated loss of major functional domain due to fusion event.

* 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.

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 Gene ORF analysis for SAMHD1-HCK

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-5UTR	ENST00000262878	ENST00000375852	SAMHD1	chr20	35563432	-	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000262878	ENST00000375862	SAMHD1	chr20	35563432	-	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000262878	ENST00000518730	SAMHD1	chr20	35563432	-	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000262878	ENST00000520553	SAMHD1	chr20	35563432	-	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000262878	ENST00000538448	SAMHD1	chr20	35563432	-	HCK	chr20	30659465	+
5UTR-3CDS	ENST00000373694	ENST00000534862	SAMHD1	chr20	35563432	-	HCK	chr20	30659465	+
5UTR-5UTR	ENST00000373694	ENST00000375852	SAMHD1	chr20	35563432	-	HCK	chr20	30659465	+
5UTR-5UTR	ENST00000373694	ENST00000375862	SAMHD1	chr20	35563432	-	HCK	chr20	30659465	+
5UTR-5UTR	ENST00000373694	ENST00000518730	SAMHD1	chr20	35563432	-	HCK	chr20	30659465	+
5UTR-5UTR	ENST00000373694	ENST00000520553	SAMHD1	chr20	35563432	-	HCK	chr20	30659465	+
5UTR-5UTR	ENST00000373694	ENST00000538448	SAMHD1	chr20	35563432	-	HCK	chr20	30659465	+
In-frame	ENST00000262878	ENST00000534862	SAMHD1	chr20	35563432	-	HCK	chr20	30659465	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

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 Genomic Features for SAMHD1-HCK

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
SAMHD1	chr20	35563431	-	HCK	chr20	30659464	+	6.65E-08	0.9999999
SAMHD1	chr20	35563431	-	HCK	chr20	30659464	+	6.65E-08	0.9999999

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SAMHD1-HCK

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: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.	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.

- 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

Hgene

SAMHD1

chr20:35563432

chr20:30659465

ENST00000262878

45_110

169

627.0

Domain

SAM

Hgene

SAMHD1

chr20:35563432

chr20:30659465

ENST00000262878

137_145

169

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

- 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

Hgene

SAMHD1

chr20:35563432

chr20:30659465

ENST00000262878

164_316

169

627.0

Domain

Hgene

SAMHD1

chr20:35563432

chr20:30659465

ENST00000262878

352_354

169

627.0

Nucleotide binding

dNTP

Hgene

SAMHD1

chr20:35563432

chr20:30659465

ENST00000262878

309_315

169

627.0

Region

Substrate binding

Hgene

SAMHD1

chr20:35563432

chr20:30659465

ENST00000262878

370_375

169

627.0

Region

Substrate binding

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Fusion Gene Sequence for SAMHD1-HCK

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>79113_79113_1_SAMHD1-HCK_SAMHD1_chr20_35563432_ENST00000262878_HCK_chr20_30659465_ENST00000534862_length(transcript)=2561nt_BP=709nt
ATTGCGCCTGCGCAGGGAGCCCAAGGCAAGAGCCGCTAGGCTGCCCTGCCCGAAGGGCTCAACTGTCAGTGAGCCTGCGCAGGAGGCCAA
TAGGCTGCCAATACTCCTTGGACTCCCCGCCAGGGCCCTGCTGTCAGTGCGCCTGCGCGCGGGTCCGGCGCCGAGGTTCTTGACTGCTGT
GCCGGACGCCAGGTGTAGCCATGCAGCGAGCCGATTCCGAGCAGCCCTCCAAGCGTCCCCGTTGCGATGACAGCCCGAGAACCCCCTCAA
ACACCCCTTCCGCAGAGGCAGACTGGTCCCCGGGCCTGGAACTCCATCCCGACTACAAGACATGGGGTCCGGAGCAGGTGTGCTCCTTCC
TCAGGCGCGGTGGCTTTGAAGAGCCGGTGCTGCTGAAGAACATCCGAGAAAATGAAATCACAGGCGCATTACTGCCTTGTCTTGATGAGT
CTCGTTTTGAAAATCTTGGAGTAAGTTCCTTGGGGGAGAGGAAGAAGCTGCTTAGTTATATCCAGCGATTGGTTCAAATCCACGTTGATA
CAATGAAGGTAATTAATGATCCTATCCATGGCCACATTGAGCTCCACCCTCTCCTCGTCCGAATCATTGATACACCTCAATTTCAACGTC
TTCGATACATCAAACAGCTGGGAGGTGGTTACTATGTTTTTCCAGGAGCTTCACACAATCGATTTGAGCATAGTCTAGGGATGGGGTGCA
TGAAGTCCAAGTTCCTCCAGGTCGGAGGCAATACATTCTCAAAAACTGAAACCAGCGCCAGCCCACACTGTCCTGTGTACGTGCCGGATC
CCACATCCACCATCAAGCCGGGGCCTAATAGCCACAACAGCAACACACCAGGAATCAGGGAGGCAGGCTCTGAGGACATCATCGTGGTTG
CCCTGTATGATTACGAGGCCATTCACCACGAAGACCTCAGCTTCCAGAAGGGGGACCAGATGGTGGTCCTAGAGGAATCCGGGGAGTGGT
GGAAGGCTCGATCCCTGGCCACCCGGAAGGAGGGCTACATCCCAAGCAACTATGTCGCCCGCGTTGACTCTCTGGAGACAGAGGAGTGGT
TTTTCAAGGGCATCAGCCGGAAGGACGCAGAGCGCCAACTGCTGGCTCCCGGCAACATGCTGGGCTCCTTCATGATCCGGGATAGCGAGA
CCACTAAAGGAAGCTACTCTTTGTCCGTGCGAGACTACGACCCTCGGCAGGGAGATACCGTGAAACATTACAAGATCCGGACCCTGGACA
ACGGGGGCTTCTACATATCCCCCCGAAGCACCTTCAGCACTCTGCAGGAGCTGGTGGACCACTACAAGAAGGGGAACGACGGGCTCTGCC
AGAAACTGTCGGTGCCCTGCATGTCTTCCAAGCCCCAGAAGCCTTGGGAGAAAGATGCCTGGGAGATCCCTCGGGAATCCCTCAAGCTGG
AGAAGAAACTTGGAGCTGGGCAGTTTGGGGAAGTCTGGATGGCCACCTACAACAAGCACACCAAGGTGGCAGTGAAGACGATGAAGCCAG
GGAGCATGTCGGTGGAGGCCTTCCTGGCAGAGGCCAACGTGATGAAAACTCTGCAGCATGACAAGCTGGTCAAACTTCATGCGGTGGTCA
CCAAGGAGCCCATCTACATCATCACGGAGTTCATGGCCAAAGGAAGCTTGCTGGACTTTCTGAAAAGTGATGAGGGCAGCAAGCAGCCAT
TGCCAAAACTCATTGACTTCTCAGCCCAGATTGCAGAAGGCATGGCCTTCATCGAGCAGAGGAACTACATCCACCGAGACCTCCGAGCTG
CCAACATCTTGGTCTCTGCATCCCTGGTGTGTAAGATTGCTGACTTTGGCCTGGCCCGGGTCATTGAGGACAACGAGTACACGGCTCGGG
AAGGGGCCAAGTTCCCCATCAAGTGGACAGCTCCTGAAGCCATCAACTTTGGCTCCTTCACCATCAAGTCAGACGTCTGGTCCTTTGGTA
TCCTGCTGATGGAGATCGTCACCTACGGCCGGATCCCTTACCCAGGGATGTCAAACCCTGAAGTGATCCGAGCTCTGGAGCGTGGATACC
GGATGCCTCGCCCAGAGAACTGCCCAGAGGAGCTCTACAACATCATGATGCGCTGCTGGAAAAACCGTCCGGAGGAGCGGCCGACCTTCG
AATACATCCAGAGTGTGCTGGATGACTTCTACACGGCCACAGAGAGCCAGTACCAACAGCAGCCATGATAGGGAGGACCAGGGCAGGGCC
AGGGGGTGCCCAGGTGGTGGCTGCAAGGTGGCTCCAGCACCATCCGCCAGGGCCCACACCCCCTTCCTACTCCCAGACACCCACCCTCGC
TTCAGCCACAGTTTCCTCATCTGTCCAGTGGGTAGGTTGGACTGGAAAATCTCTTTTTGACTCTTGCAATCCACAATCTGACATTCTCAG
GAAGCCCCCAAGTTGATATTTCTATTTCCTGGAATGGTTGGATTTTAGTTACAGCTGTGATTTGGAAGGGAAACTTTCAAAATAGTGAAA

>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 Gene PPI Analysis for SAMHD1-HCK

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 (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for SAMHD1-HCK

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for SAMHD1-HCK

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source