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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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Fusion gene ID: 32607

FusionGeneSummary for SAMHD1_YIF1B

check button Fusion gene summary
Fusion gene informationFusion gene name: SAMHD1_YIF1B
Fusion gene ID: 32607
HgeneTgene
Gene symbol

SAMHD1

YIF1B

Gene ID

25939

90522

Gene nameSAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1Yip1 interacting factor homolog B, membrane trafficking protein
SynonymsCHBL2|DCIP|HDDC1|MOP-5|SBBI88FinGER8
Cytomap

20q11.23

19q13.2

Type of geneprotein-codingprotein-coding
Descriptiondeoxynucleoside triphosphate triphosphohydrolase SAMHD1SAM domain and HD domain 1SAM domain and HD domain-containing protein 1dNTPasedendritic cell-derived IFNG-induced proteinmonocyte protein 5protein YIF1BYIP1-interacting factor homolog B
Modification date2018052820180523
UniProtAcc

Q9Y3Z3

Q5BJH7

Ensembl transtripts involved in fusion geneENST00000262878, ENST00000373694, 
ENST00000592694, ENST00000337679, 
ENST00000392124, ENST00000339413, 
ENST00000592246, ENST00000329420, 
ENST00000591784, ENST00000591755, 
ENST00000587361, 
Fusion gene scores* DoF score6 X 6 X 5=1805 X 3 X 5=75
# samples 66
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SAMHD1 [Title/Abstract] AND YIF1B [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
HgeneSAMHD1

GO:0006203

dGTP catabolic process

24217394

HgeneSAMHD1

GO:0046061

dATP catabolic process

24141705

HgeneSAMHD1

GO:0051289

protein homotetramerization

24217394


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
TCGARVHNSCTCGA-BA-5559-01ASAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
* 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
In-frameENST00000262878ENST00000592694SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
Frame-shiftENST00000262878ENST00000337679SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
In-frameENST00000262878ENST00000392124SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
Frame-shiftENST00000262878ENST00000339413SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
Frame-shiftENST00000262878ENST00000592246SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
Frame-shiftENST00000262878ENST00000329420SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
Frame-shiftENST00000262878ENST00000591784SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
5CDS-intronENST00000262878ENST00000591755SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
5CDS-intronENST00000262878ENST00000587361SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
In-frameENST00000373694ENST00000592694SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
Frame-shiftENST00000373694ENST00000337679SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
In-frameENST00000373694ENST00000392124SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
Frame-shiftENST00000373694ENST00000339413SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
Frame-shiftENST00000373694ENST00000592246SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
Frame-shiftENST00000373694ENST00000329420SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
Frame-shiftENST00000373694ENST00000591784SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
5CDS-intronENST00000373694ENST00000591755SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-
5CDS-intronENST00000373694ENST00000587361SAMHD1chr20

35547767

-YIF1Bchr19

38796147

-

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FusionProtFeatures for SAMHD1_YIF1B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SAMHD1

Q9Y3Z3

YIF1B

Q5BJH7

Protein that acts both as a host restriction factorinvolved in defense response to virus and as a regulator of DNAend resection at stalled replication forks (PubMed:19525956,PubMed:21613998, PubMed:21720370, PubMed:23602554,PubMed:23601106, PubMed:22056990, PubMed:24336198,PubMed:26294762, PubMed:26431200, PubMed:28229507,PubMed:28834754, PubMed:29670289). Has deoxynucleosidetriphosphate (dNTPase) activity, which is required to restrictinfection by viruses, such as HIV-1: dNTPase activity reducescellular dNTP levels to levels too low for retroviral reversetranscription to occur, blocking early-stage virus replication indendritic and other myeloid cells (PubMed:19525956,PubMed:21613998, PubMed:21720370, PubMed:23602554,PubMed:23601106, PubMed:23364794, PubMed:25038827,PubMed:26101257, PubMed:22056990, PubMed:24336198,PubMed:28229507, PubMed:26294762, PubMed:26431200). Likewise,suppresses LINE-1 retrotransposon activity (PubMed:24035396,PubMed:29610582, PubMed:24217394). Not able to restrict infectionby HIV-2 virus; because restriction activity is counteracted byHIV-2 viral protein Vpx (PubMed:21613998, PubMed:21720370). Inaddition to virus restriction, dNTPase activity acts as aregulator of DNA precursor pools by regulating dNTP pools(PubMed:23858451). Phosphorylation at Thr-592 acts as a switch tocontrol dNTPase-dependent and -independent functions: it inhibitsdNTPase activity and ability to restrict infection by viruses,while it promotes DNA end resection at stalled replication forks(PubMed:23602554, PubMed:23601106, PubMed:29610582,PubMed:29670289). Functions during S phase at stalled DNAreplication forks to promote the resection of gapped or reversedforks: acts by stimulating the exonuclease activity of MRE11,activating the ATR-CHK1 pathway and allowing the forks to restartreplication (PubMed:29670289). Its ability to promote degradationof nascent DNA at stalled replication forks is required to preventinduction of type I interferons, thereby preventing chronicinflammation (PubMed:27477283, PubMed:29670289). Ability topromote DNA end resection at stalled replication forks isindependent of dNTPase activity (PubMed:29670289). Enhancesimmunoglobulin hypermutation in B-lymphocytes by promotingtransversion mutation (By similarity).{ECO:0000250|UniProtKB:Q60710, ECO:0000269|PubMed:19525956,ECO:0000269|PubMed:21613998, ECO:0000269|PubMed:21720370,ECO:0000269|PubMed:22056990, ECO:0000269|PubMed:23364794,ECO:0000269|PubMed:23601106, ECO:0000269|PubMed:23602554,ECO:0000269|PubMed:23858451, ECO:0000269|PubMed:24035396,ECO:0000269|PubMed:24217394, ECO:0000269|PubMed:24336198,ECO:0000269|PubMed:25038827, ECO:0000269|PubMed:26101257,ECO:0000269|PubMed:26294762, ECO:0000269|PubMed:26431200,ECO:0000269|PubMed:27477283, ECO:0000269|PubMed:28229507,ECO:0000269|PubMed:28834754, ECO:0000269|PubMed:29610582,ECO:0000269|PubMed:29670289}.

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
HgeneSAMHD1chr20:35547767chr19:38796147ENST00000262878-71645_110284627DomainSAM
HgeneSAMHD1chr20:35547767chr19:38796147ENST00000262878-716137_145284627Nucleotide bindingGTP
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000329420-68263_292248300Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000329420-68314_314248300Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000337679-79314_314285292Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000339413-68263_292263315Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000339413-68314_314263315Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000392124-57241_241232284Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000392124-57263_292232284Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000392124-57314_314232284Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591755-08178_192-1295Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591755-081_156-1295Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591755-08214_219-1295Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591755-08241_241-1295Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591755-08263_292-1295Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591755-08314_314-1295Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591784-68241_241232284Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591784-68263_292232284Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591784-68314_314232284Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000592694-68241_241232284Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000592694-68263_292232284Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000592694-68314_314232284Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000329420-68293_313248300TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000337679-79293_313285292TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000339413-68293_313263315TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000392124-57242_262232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000392124-57293_313232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591755-08157_177-1295TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591755-08193_213-1295TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591755-08220_240-1295TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591755-08242_262-1295TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591755-08293_313-1295TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591784-68242_262232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591784-68293_313232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000592694-68242_262232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000592694-68293_313232284TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSAMHD1chr20:35547767chr19:38796147ENST00000262878-716164_316284627DomainHD
HgeneSAMHD1chr20:35547767chr19:38796147ENST00000262878-716352_354284627Nucleotide bindingdNTP
HgeneSAMHD1chr20:35547767chr19:38796147ENST00000262878-716309_315284627RegionSubstrate binding
HgeneSAMHD1chr20:35547767chr19:38796147ENST00000262878-716370_375284627RegionSubstrate binding
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000329420-68178_192248300Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000329420-681_156248300Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000329420-68214_219248300Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000329420-68241_241248300Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000337679-79178_192285292Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000337679-791_156285292Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000337679-79214_219285292Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000337679-79241_241285292Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000337679-79263_292285292Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000339413-68178_192263315Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000339413-681_156263315Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000339413-68214_219263315Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000339413-68241_241263315Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000392124-57178_192232284Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000392124-571_156232284Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000392124-57214_219232284Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591784-68178_192232284Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591784-681_156232284Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591784-68214_219232284Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000592694-68178_192232284Topological domainExtracellular
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000592694-681_156232284Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000592694-68214_219232284Topological domainCytoplasmic
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000329420-68157_177248300TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000329420-68193_213248300TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000329420-68220_240248300TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000329420-68242_262248300TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000337679-79157_177285292TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000337679-79193_213285292TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000337679-79220_240285292TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000337679-79242_262285292TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000339413-68157_177263315TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000339413-68193_213263315TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000339413-68220_240263315TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000339413-68242_262263315TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000392124-57157_177232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000392124-57193_213232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000392124-57220_240232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591784-68157_177232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591784-68193_213232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000591784-68220_240232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000592694-68157_177232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000592694-68193_213232284TransmembraneHelical
TgeneYIF1Bchr20:35547767chr19:38796147ENST00000592694-68220_240232284TransmembraneHelical


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FusionGeneSequence for SAMHD1_YIF1B


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.
>In-frame_SAMHD1_ENST00000262878_chr20_35547767_-_YIF1B_ENST00000592694_chr19_38796147_-_336aa
MQRADSEQPSKRPRCDDSPRTPSNTPSAEADWSPGLELHPDYKTWGPEQVCSFLRRGGFEEPVLLKNIRENEITGALLPCLDESRFENLG
VSSLGERKKLLSYIQRLVQIHVDTMKVINDPIHGHIELHPLLVRIIDTPQFQRLRYIKQLGGGYYVFPGASHNRFEHSLGVGYLAGCLVH
ALGEKQPELQISERDVLCVQIAGLCHDLGHGPFSHMFDGRFIPLARPEVKWTHEQGSVMMFEHLINSNGIKPVMEQYGLIPEEDICFIKE

>In-frame_SAMHD1_ENST00000262878_chr20_35547767_-_YIF1B_ENST00000392124_chr19_38796147_-_336aa
MQRADSEQPSKRPRCDDSPRTPSNTPSAEADWSPGLELHPDYKTWGPEQVCSFLRRGGFEEPVLLKNIRENEITGALLPCLDESRFENLG
VSSLGERKKLLSYIQRLVQIHVDTMKVINDPIHGHIELHPLLVRIIDTPQFQRLRYIKQLGGGYYVFPGASHNRFEHSLGVGYLAGCLVH
ALGEKQPELQISERDVLCVQIAGLCHDLGHGPFSHMFDGRFIPLARPEVKWTHEQGSVMMFEHLINSNGIKPVMEQYGLIPEEDICFIKE

>In-frame_SAMHD1_ENST00000373694_chr20_35547767_-_YIF1B_ENST00000592694_chr19_38796147_-_52aa

>In-frame_SAMHD1_ENST00000373694_chr20_35547767_-_YIF1B_ENST00000392124_chr19_38796147_-_52aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SAMHD1_ENST00000262878_chr20_35547767_-_YIF1B_ENST00000592694_chr19_38796147_-_1008nt
ATGCAGCGAGCCGATTCCGAGCAGCCCTCCAAGCGTCCCCGTTGCGATGACAGCCCGAGAACCCCCTCAAACACCCCTTCCGCAGAGGCA
GACTGGTCCCCGGGCCTGGAACTCCATCCCGACTACAAGACATGGGGTCCGGAGCAGGTGTGCTCCTTCCTCAGGCGCGGTGGCTTTGAA
GAGCCGGTGCTGCTGAAGAACATCCGAGAAAATGAAATCACAGGCGCATTACTGCCTTGTCTTGATGAGTCTCGTTTTGAAAATCTTGGA
GTAAGTTCCTTGGGGGAGAGGAAGAAGCTGCTTAGTTATATCCAGCGATTGGTTCAAATCCACGTTGATACAATGAAGGTAATTAATGAT
CCTATCCATGGCCACATTGAGCTCCACCCTCTCCTCGTCCGAATCATTGATACACCTCAATTTCAACGTCTTCGATACATCAAACAGCTG
GGAGGTGGTTACTATGTTTTTCCAGGAGCTTCACACAATCGATTTGAGCATAGTCTAGGGGTGGGGTATCTAGCAGGATGTCTAGTTCAC
GCACTGGGTGAAAAACAACCAGAGCTGCAGATAAGTGAACGAGATGTTCTCTGTGTTCAGATTGCTGGACTTTGTCATGATCTCGGTCAT
GGGCCATTTTCTCACATGTTTGATGGACGATTTATTCCACTTGCTCGCCCGGAGGTGAAATGGACGCATGAACAAGGCTCAGTTATGATG
TTTGAGCACCTTATTAATTCTAATGGAATTAAGCCTGTCATGGAACAATATGGTCTCATCCCTGAAGAAGATATTTGCTTTATAAAGGAA
CAAATTGTAGGACCACTTGAATCACCTGTCGAAGATTCATTGATCCGGACGCTGCGGCTGAAGATCTTGGCAGACGCAGCAGCTGAGGGG
GTCCCGGTGCGTGGGGCCCGGAACCAGCTGCGCATGTACCTGACCATGGCGGTGGCGGCGGCGCAGCCTATGCTCATGTACTGGCTCACC

>In-frame_SAMHD1_ENST00000262878_chr20_35547767_-_YIF1B_ENST00000392124_chr19_38796147_-_1008nt
ATGCAGCGAGCCGATTCCGAGCAGCCCTCCAAGCGTCCCCGTTGCGATGACAGCCCGAGAACCCCCTCAAACACCCCTTCCGCAGAGGCA
GACTGGTCCCCGGGCCTGGAACTCCATCCCGACTACAAGACATGGGGTCCGGAGCAGGTGTGCTCCTTCCTCAGGCGCGGTGGCTTTGAA
GAGCCGGTGCTGCTGAAGAACATCCGAGAAAATGAAATCACAGGCGCATTACTGCCTTGTCTTGATGAGTCTCGTTTTGAAAATCTTGGA
GTAAGTTCCTTGGGGGAGAGGAAGAAGCTGCTTAGTTATATCCAGCGATTGGTTCAAATCCACGTTGATACAATGAAGGTAATTAATGAT
CCTATCCATGGCCACATTGAGCTCCACCCTCTCCTCGTCCGAATCATTGATACACCTCAATTTCAACGTCTTCGATACATCAAACAGCTG
GGAGGTGGTTACTATGTTTTTCCAGGAGCTTCACACAATCGATTTGAGCATAGTCTAGGGGTGGGGTATCTAGCAGGATGTCTAGTTCAC
GCACTGGGTGAAAAACAACCAGAGCTGCAGATAAGTGAACGAGATGTTCTCTGTGTTCAGATTGCTGGACTTTGTCATGATCTCGGTCAT
GGGCCATTTTCTCACATGTTTGATGGACGATTTATTCCACTTGCTCGCCCGGAGGTGAAATGGACGCATGAACAAGGCTCAGTTATGATG
TTTGAGCACCTTATTAATTCTAATGGAATTAAGCCTGTCATGGAACAATATGGTCTCATCCCTGAAGAAGATATTTGCTTTATAAAGGAA
CAAATTGTAGGACCACTTGAATCACCTGTCGAAGATTCATTGATCCGGACGCTGCGGCTGAAGATCTTGGCAGACGCAGCAGCTGAGGGG
GTCCCGGTGCGTGGGGCCCGGAACCAGCTGCGCATGTACCTGACCATGGCGGTGGCGGCGGCGCAGCCTATGCTCATGTACTGGCTCACC

>In-frame_SAMHD1_ENST00000373694_chr20_35547767_-_YIF1B_ENST00000592694_chr19_38796147_-_156nt
ATCCGGACGCTGCGGCTGAAGATCTTGGCAGACGCAGCAGCTGAGGGGGTCCCGGTGCGTGGGGCCCGGAACCAGCTGCGCATGTACCTG

>In-frame_SAMHD1_ENST00000373694_chr20_35547767_-_YIF1B_ENST00000392124_chr19_38796147_-_156nt
ATCCGGACGCTGCGGCTGAAGATCTTGGCAGACGCAGCAGCTGAGGGGGTCCCGGTGCGTGGGGCCCGGAACCAGCTGCGCATGTACCTG


* Fusion transcript sequences (Full-length transcript).
>In-frame_SAMHD1_ENST00000262878_chr20_35547767_-_YIF1B_ENST00000592694_chr19_38796147_-_1447nt
ATTGCGCCTGCGCAGGGAGCCCAAGGCAAGAGCCGCTAGGCTGCCCTGCCCGAAGGGCTCAACTGTCAGTGAGCCTGCGCAGGAGGCCAA
TAGGCTGCCAATACTCCTTGGACTCCCCGCCAGGGCCCTGCTGTCAGTGCGCCTGCGCGCGGGTCCGGCGCCGAGGTTCTTGACTGCTGT
GCCGGACGCCAGGTGTAGCCATGCAGCGAGCCGATTCCGAGCAGCCCTCCAAGCGTCCCCGTTGCGATGACAGCCCGAGAACCCCCTCAA
ACACCCCTTCCGCAGAGGCAGACTGGTCCCCGGGCCTGGAACTCCATCCCGACTACAAGACATGGGGTCCGGAGCAGGTGTGCTCCTTCC
TCAGGCGCGGTGGCTTTGAAGAGCCGGTGCTGCTGAAGAACATCCGAGAAAATGAAATCACAGGCGCATTACTGCCTTGTCTTGATGAGT
CTCGTTTTGAAAATCTTGGAGTAAGTTCCTTGGGGGAGAGGAAGAAGCTGCTTAGTTATATCCAGCGATTGGTTCAAATCCACGTTGATA
CAATGAAGGTAATTAATGATCCTATCCATGGCCACATTGAGCTCCACCCTCTCCTCGTCCGAATCATTGATACACCTCAATTTCAACGTC
TTCGATACATCAAACAGCTGGGAGGTGGTTACTATGTTTTTCCAGGAGCTTCACACAATCGATTTGAGCATAGTCTAGGGGTGGGGTATC
TAGCAGGATGTCTAGTTCACGCACTGGGTGAAAAACAACCAGAGCTGCAGATAAGTGAACGAGATGTTCTCTGTGTTCAGATTGCTGGAC
TTTGTCATGATCTCGGTCATGGGCCATTTTCTCACATGTTTGATGGACGATTTATTCCACTTGCTCGCCCGGAGGTGAAATGGACGCATG
AACAAGGCTCAGTTATGATGTTTGAGCACCTTATTAATTCTAATGGAATTAAGCCTGTCATGGAACAATATGGTCTCATCCCTGAAGAAG
ATATTTGCTTTATAAAGGAACAAATTGTAGGACCACTTGAATCACCTGTCGAAGATTCATTGATCCGGACGCTGCGGCTGAAGATCTTGG
CAGACGCAGCAGCTGAGGGGGTCCCGGTGCGTGGGGCCCGGAACCAGCTGCGCATGTACCTGACCATGGCGGTGGCGGCGGCGCAGCCTA
TGCTCATGTACTGGCTCACCTTCCACCTGGTGCGGTGAGCGCGCCCGCTGAACCTCCCGCTGCTGCTGCTGCTGCTGGGGGCCACTGTGG
CCGCCGAACTCATCTCCTGCCTGCAGGCCCCAAGGTCCACCCTGTCTGGCCACAGGCACCGCCTCCATCCCATGTCCCGCCCAGCCCCGC
CCCCAACCCAAGGTGCTGAGAGATCTCCAGCTGCACAGGCCACCGCCCCAGGGCGTGGCCGCTGTTACAGAAACAATAAACCCTGATGGG

>In-frame_SAMHD1_ENST00000262878_chr20_35547767_-_YIF1B_ENST00000392124_chr19_38796147_-_1445nt
ATTGCGCCTGCGCAGGGAGCCCAAGGCAAGAGCCGCTAGGCTGCCCTGCCCGAAGGGCTCAACTGTCAGTGAGCCTGCGCAGGAGGCCAA
TAGGCTGCCAATACTCCTTGGACTCCCCGCCAGGGCCCTGCTGTCAGTGCGCCTGCGCGCGGGTCCGGCGCCGAGGTTCTTGACTGCTGT
GCCGGACGCCAGGTGTAGCCATGCAGCGAGCCGATTCCGAGCAGCCCTCCAAGCGTCCCCGTTGCGATGACAGCCCGAGAACCCCCTCAA
ACACCCCTTCCGCAGAGGCAGACTGGTCCCCGGGCCTGGAACTCCATCCCGACTACAAGACATGGGGTCCGGAGCAGGTGTGCTCCTTCC
TCAGGCGCGGTGGCTTTGAAGAGCCGGTGCTGCTGAAGAACATCCGAGAAAATGAAATCACAGGCGCATTACTGCCTTGTCTTGATGAGT
CTCGTTTTGAAAATCTTGGAGTAAGTTCCTTGGGGGAGAGGAAGAAGCTGCTTAGTTATATCCAGCGATTGGTTCAAATCCACGTTGATA
CAATGAAGGTAATTAATGATCCTATCCATGGCCACATTGAGCTCCACCCTCTCCTCGTCCGAATCATTGATACACCTCAATTTCAACGTC
TTCGATACATCAAACAGCTGGGAGGTGGTTACTATGTTTTTCCAGGAGCTTCACACAATCGATTTGAGCATAGTCTAGGGGTGGGGTATC
TAGCAGGATGTCTAGTTCACGCACTGGGTGAAAAACAACCAGAGCTGCAGATAAGTGAACGAGATGTTCTCTGTGTTCAGATTGCTGGAC
TTTGTCATGATCTCGGTCATGGGCCATTTTCTCACATGTTTGATGGACGATTTATTCCACTTGCTCGCCCGGAGGTGAAATGGACGCATG
AACAAGGCTCAGTTATGATGTTTGAGCACCTTATTAATTCTAATGGAATTAAGCCTGTCATGGAACAATATGGTCTCATCCCTGAAGAAG
ATATTTGCTTTATAAAGGAACAAATTGTAGGACCACTTGAATCACCTGTCGAAGATTCATTGATCCGGACGCTGCGGCTGAAGATCTTGG
CAGACGCAGCAGCTGAGGGGGTCCCGGTGCGTGGGGCCCGGAACCAGCTGCGCATGTACCTGACCATGGCGGTGGCGGCGGCGCAGCCTA
TGCTCATGTACTGGCTCACCTTCCACCTGGTGCGGTGAGCGCGCCCGCTGAACCTCCCGCTGCTGCTGCTGCTGCTGGGGGCCACTGTGG
CCGCCGAACTCATCTCCTGCCTGCAGGCCCCAAGGTCCACCCTGTCTGGCCACAGGCACCGCCTCCATCCCATGTCCCGCCCAGCCCCGC
CCCCAACCCAAGGTGCTGAGAGATCTCCAGCTGCACAGGCCACCGCCCCAGGGCGTGGCCGCTGTTACAGAAACAATAAACCCTGATGGG

>In-frame_SAMHD1_ENST00000373694_chr20_35547767_-_YIF1B_ENST00000592694_chr19_38796147_-_1375nt
AGTGCGCCTGCGCGCGGGTCCGGCGCCGAGGTTCTTGACTGCTGTGCCGGACGCCAGGTGTAGCCATGCAGCGAGCCGATTCCGAGCAGC
CCTCCAAGCGTCCCCGTTGCGATGACAGCCCGAGAACCCCCTCAAACACCCCTTCCGCAGAGGCAGACTGGTCCCCGGGCCTGGAACTCC
ATCCCGACTACAAGACATGGGGTCCGGAGCAGGTGTGCTCCTTCCTCAGGCGCGGTGGCTTTGAAGAGCCGGTGCTGCTGAAGAACATCC
GAGAAAATGAAATCACAGGCGCATTACTGCCTTGTCTTGATGAGTCTCGTTTTGAAAATCTTGGAGTAAGTTCCTTGGGGGAGAGGAAGA
AGCTGCTTAGTTATATCCAGCGATTGGTTCAAATCCACGTTGATACAATGAAGGAAGAAGTAAAATATACTCAAATCCAATATACTTGAT
CTGTCTGGTAGTGATACCTAAATAAGGTAATTAATGATCCTATCCATGGCCACATTGAGCTCCACCCTCTCCTCGTCCGAATCATTGATA
CACCTCAATTTCAACGTCTTCGATACATCAAACAGCTGGGAGGTGGTTACTATGTTTTTCCAGGAGCTTCACACAATCGATTTGAGCATA
GTCTAGGGGTGGGGTATCTAGCAGGATGTCTAGTTCACGCACTGGGTGAAAAACAACCAGAGCTGCAGATAAGTGAACGAGATGTTCTCT
GTGTTCAGATTGCTGGACTTTGTCATGATCTCGGTCATGGGCCATTTTCTCACATGTTTGATGGACGATTTATTCCACTTGCTCGCCCGG
AGGTGAAATGGACGCATGAACAAGGCTCAGTTATGATGTTTGAGCACCTTATTAATTCTAATGGAATTAAGCCTGTCATGGAACAATATG
GTCTCATCCCTGAAGAAGATATTTGCTTTATAAAGGAACAAATTGTAGGACCACTTGAATCACCTGTCGAAGATTCATTGATCCGGACGC
TGCGGCTGAAGATCTTGGCAGACGCAGCAGCTGAGGGGGTCCCGGTGCGTGGGGCCCGGAACCAGCTGCGCATGTACCTGACCATGGCGG
TGGCGGCGGCGCAGCCTATGCTCATGTACTGGCTCACCTTCCACCTGGTGCGGTGAGCGCGCCCGCTGAACCTCCCGCTGCTGCTGCTGC
TGCTGGGGGCCACTGTGGCCGCCGAACTCATCTCCTGCCTGCAGGCCCCAAGGTCCACCCTGTCTGGCCACAGGCACCGCCTCCATCCCA
TGTCCCGCCCAGCCCCGCCCCCAACCCAAGGTGCTGAGAGATCTCCAGCTGCACAGGCCACCGCCCCAGGGCGTGGCCGCTGTTACAGAA

>In-frame_SAMHD1_ENST00000373694_chr20_35547767_-_YIF1B_ENST00000392124_chr19_38796147_-_1373nt
AGTGCGCCTGCGCGCGGGTCCGGCGCCGAGGTTCTTGACTGCTGTGCCGGACGCCAGGTGTAGCCATGCAGCGAGCCGATTCCGAGCAGC
CCTCCAAGCGTCCCCGTTGCGATGACAGCCCGAGAACCCCCTCAAACACCCCTTCCGCAGAGGCAGACTGGTCCCCGGGCCTGGAACTCC
ATCCCGACTACAAGACATGGGGTCCGGAGCAGGTGTGCTCCTTCCTCAGGCGCGGTGGCTTTGAAGAGCCGGTGCTGCTGAAGAACATCC
GAGAAAATGAAATCACAGGCGCATTACTGCCTTGTCTTGATGAGTCTCGTTTTGAAAATCTTGGAGTAAGTTCCTTGGGGGAGAGGAAGA
AGCTGCTTAGTTATATCCAGCGATTGGTTCAAATCCACGTTGATACAATGAAGGAAGAAGTAAAATATACTCAAATCCAATATACTTGAT
CTGTCTGGTAGTGATACCTAAATAAGGTAATTAATGATCCTATCCATGGCCACATTGAGCTCCACCCTCTCCTCGTCCGAATCATTGATA
CACCTCAATTTCAACGTCTTCGATACATCAAACAGCTGGGAGGTGGTTACTATGTTTTTCCAGGAGCTTCACACAATCGATTTGAGCATA
GTCTAGGGGTGGGGTATCTAGCAGGATGTCTAGTTCACGCACTGGGTGAAAAACAACCAGAGCTGCAGATAAGTGAACGAGATGTTCTCT
GTGTTCAGATTGCTGGACTTTGTCATGATCTCGGTCATGGGCCATTTTCTCACATGTTTGATGGACGATTTATTCCACTTGCTCGCCCGG
AGGTGAAATGGACGCATGAACAAGGCTCAGTTATGATGTTTGAGCACCTTATTAATTCTAATGGAATTAAGCCTGTCATGGAACAATATG
GTCTCATCCCTGAAGAAGATATTTGCTTTATAAAGGAACAAATTGTAGGACCACTTGAATCACCTGTCGAAGATTCATTGATCCGGACGC
TGCGGCTGAAGATCTTGGCAGACGCAGCAGCTGAGGGGGTCCCGGTGCGTGGGGCCCGGAACCAGCTGCGCATGTACCTGACCATGGCGG
TGGCGGCGGCGCAGCCTATGCTCATGTACTGGCTCACCTTCCACCTGGTGCGGTGAGCGCGCCCGCTGAACCTCCCGCTGCTGCTGCTGC
TGCTGGGGGCCACTGTGGCCGCCGAACTCATCTCCTGCCTGCAGGCCCCAAGGTCCACCCTGTCTGGCCACAGGCACCGCCTCCATCCCA
TGTCCCGCCCAGCCCCGCCCCCAACCCAAGGTGCTGAGAGATCTCCAGCTGCACAGGCCACCGCCCCAGGGCGTGGCCGCTGTTACAGAA


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FusionGenePPI for SAMHD1_YIF1B


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
SAMHD1TIRAP, VPRBP, DDB1, CUL3, CUL5, CUL2, COPS6, APP, BARD1, CD81, KPNB1, FBXO25, EIF4B, GANAB, GART, HSPH1, JUP, PLOD2, PRMT3, RANBP3, RPL24, ATP6V1E1, FAF1, MSH6, NARS, OSBP, SEC23A, TUBG1, XRCC5, XRCC6, SF1, SUPT5H, TRMT1, XPO7, HSF5, CCNA2, CDK2, SKP2, CDK1, RNF2, EGFR, FAM13B, SAMHD1, EEF1A1, ACTB, RBX1, CUL4A, NTRK1, CCNL2, SPICE1, PPP2R1A, PPP2R5E, SMARCD2, STX3, AKAP12, MTCL1, RACGAP1, GPATCH4, KANSL3, ZMAT3, LCOR, SOGA1, RSBN1L, U2AF2, GSK3A, GSK3B, NAA10, TRIM25, KPNA2YIF1BATP6V1B2, DERL1, ESYT1, ICAM2, MYO18A, TCTN3, YIPF5, CKAP4, PTPRE, TRIM25


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 SAMHD1_YIF1B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SAMHD1_YIF1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSAMHD1C2749659AICARDI-GOUTIERES SYNDROME 5 (disorder)3CTD_human;UNIPROT
HgeneSAMHD1C0024145Chilblain lupus 11CTD_human;ORPHANET
HgeneSAMHD1C0796126AICARDI-GOUTIERES SYNDROME 11CTD_human
HgeneSAMHD1C3711385Deoxyguanosine Kinase Deficiency1CTD_human