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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:SETDB1-PIP5K1A

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SETDB1-PIP5K1A
FusionPDB ID: 80942
FusionGDB2.0 ID: 80942
HgeneTgene
Gene symbol

SETDB1

PIP5K1A

Gene ID

9869

8394

Gene nameSET domain bifurcated histone lysine methyltransferase 1phosphatidylinositol-4-phosphate 5-kinase type 1 alpha
SynonymsESET|H3-K9-HMTase4|KG1T|KMT1E|TDRD21-
Cytomap

1q21.3

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase SETDB1ERG-associated protein with a SET domain, ESETSET domain bifurcated 1histone H3-K9 methyltransferase 4histone-lysine N-methyltransferase, H3lysine-9 specific 4lysine N-methyltransferase 1Etudor domain containphosphatidylinositol 4-phosphate 5-kinase type-1 alpha68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alphaPIP5K1-alphaPIP5KIalphaphosphatidylinositol 4-phosphate 5-kinase type I alphaptdIns(4)P-5-kinase 1 alpha
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000459773, ENST00000271640, 
ENST00000368962, ENST00000368963, 
ENST00000368969, 
ENST00000368888, 
ENST00000368890, ENST00000409426, 
ENST00000441902, ENST00000414290, 
ENST00000464105, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 7 X 6=3366 X 8 X 5=240
# samples 87
** MAII scorelog2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/240*10)=-1.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SETDB1 [Title/Abstract] AND PIP5K1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SETDB1(150900450)-PIP5K1A(151219396), # samples:1
Anticipated loss of major functional domain due to fusion event.SETDB1-PIP5K1A 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.
SETDB1-PIP5K1A 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePIP5K1A

GO:0008654

phospholipid biosynthetic process

15157668


check buttonFusion gene breakpoints across SETDB1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across PIP5K1A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4Non-CancerERR315444SETDB1chr1

150900450

+PIP5K1Achr1

151219396

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000271640SETDB1chr1150900450+ENST00000409426PIP5K1Achr1151219396+21384503694121
ENST00000271640SETDB1chr1150900450+ENST00000441902PIP5K1Achr1151219396+783450190498102
ENST00000271640SETDB1chr1150900450+ENST00000368890PIP5K1Achr1151219396+21654503694121
ENST00000271640SETDB1chr1150900450+ENST00000368888PIP5K1Achr1151219396+522450190498102
ENST00000368962SETDB1chr1150900450+ENST00000409426PIP5K1Achr1151219396+2074386126434102
ENST00000368962SETDB1chr1150900450+ENST00000441902PIP5K1Achr1151219396+719386126434102
ENST00000368962SETDB1chr1150900450+ENST00000368890PIP5K1Achr1151219396+2101386126434102
ENST00000368962SETDB1chr1150900450+ENST00000368888PIP5K1Achr1151219396+458386126434102
ENST00000368969SETDB1chr1150900450+ENST00000409426PIP5K1Achr1151219396+2065377117425102
ENST00000368969SETDB1chr1150900450+ENST00000441902PIP5K1Achr1151219396+710377117425102
ENST00000368969SETDB1chr1150900450+ENST00000368890PIP5K1Achr1151219396+2092377117425102
ENST00000368969SETDB1chr1150900450+ENST00000368888PIP5K1Achr1151219396+449377117425102
ENST00000368963SETDB1chr1150900450+ENST00000409426PIP5K1Achr1151219396+2053365105413102
ENST00000368963SETDB1chr1150900450+ENST00000441902PIP5K1Achr1151219396+698365105413102
ENST00000368963SETDB1chr1150900450+ENST00000368890PIP5K1Achr1151219396+2080365105413102
ENST00000368963SETDB1chr1150900450+ENST00000368888PIP5K1Achr1151219396+437365105413102

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000271640ENST00000409426SETDB1chr1150900450+PIP5K1Achr1151219396+0.0123278880.9876721
ENST00000271640ENST00000441902SETDB1chr1150900450+PIP5K1Achr1151219396+0.0147804920.9852195
ENST00000271640ENST00000368890SETDB1chr1150900450+PIP5K1Achr1151219396+0.0136680220.98633194
ENST00000271640ENST00000368888SETDB1chr1150900450+PIP5K1Achr1151219396+0.0145462530.9854537
ENST00000368962ENST00000409426SETDB1chr1150900450+PIP5K1Achr1151219396+0.0087457230.99125427
ENST00000368962ENST00000441902SETDB1chr1150900450+PIP5K1Achr1151219396+0.0149025910.9850974
ENST00000368962ENST00000368890SETDB1chr1150900450+PIP5K1Achr1151219396+0.0080069290.99199307
ENST00000368962ENST00000368888SETDB1chr1150900450+PIP5K1Achr1151219396+0.0162775050.9837225
ENST00000368969ENST00000409426SETDB1chr1150900450+PIP5K1Achr1151219396+0.034919470.9650805
ENST00000368969ENST00000441902SETDB1chr1150900450+PIP5K1Achr1151219396+0.0149722130.9850278
ENST00000368969ENST00000368890SETDB1chr1150900450+PIP5K1Achr1151219396+0.032404050.96759593
ENST00000368969ENST00000368888SETDB1chr1150900450+PIP5K1Achr1151219396+0.0216243320.97837573
ENST00000368963ENST00000409426SETDB1chr1150900450+PIP5K1Achr1151219396+0.0285557530.9714443
ENST00000368963ENST00000441902SETDB1chr1150900450+PIP5K1Achr1151219396+0.0162411650.9837588
ENST00000368963ENST00000368890SETDB1chr1150900450+PIP5K1Achr1151219396+0.0285435150.97145647
ENST00000368963ENST00000368888SETDB1chr1150900450+PIP5K1Achr1151219396+0.0226329450.9773671

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Fusion Amino Acid Sequences


check button 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

>80942_80942_1_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000271640_PIP5K1A_chr1_151219396_ENST00000368888_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_2_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000271640_PIP5K1A_chr1_151219396_ENST00000368890_length(amino acids)=121AA_BP=
MLLALLYTIHLLQFLIDEMPKFLHRDTQFLNHCLLQLCNLFRLHCSCCCIQTNAPRKGRHAFVLSRLPASRALFHQPDPRLTTQGSASTE

--------------------------------------------------------------

>80942_80942_3_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000271640_PIP5K1A_chr1_151219396_ENST00000409426_length(amino acids)=121AA_BP=
MLLALLYTIHLLQFLIDEMPKFLHRDTQFLNHCLLQLCNLFRLHCSCCCIQTNAPRKGRHAFVLSRLPASRALFHQPDPRLTTQGSASTE

--------------------------------------------------------------

>80942_80942_4_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000271640_PIP5K1A_chr1_151219396_ENST00000441902_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_5_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000368962_PIP5K1A_chr1_151219396_ENST00000368888_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_6_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000368962_PIP5K1A_chr1_151219396_ENST00000368890_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_7_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000368962_PIP5K1A_chr1_151219396_ENST00000409426_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_8_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000368962_PIP5K1A_chr1_151219396_ENST00000441902_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_9_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000368963_PIP5K1A_chr1_151219396_ENST00000368888_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_10_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000368963_PIP5K1A_chr1_151219396_ENST00000368890_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_11_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000368963_PIP5K1A_chr1_151219396_ENST00000409426_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_12_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000368963_PIP5K1A_chr1_151219396_ENST00000441902_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_13_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000368969_PIP5K1A_chr1_151219396_ENST00000368888_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_14_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000368969_PIP5K1A_chr1_151219396_ENST00000368890_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_15_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000368969_PIP5K1A_chr1_151219396_ENST00000409426_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

>80942_80942_16_SETDB1-PIP5K1A_SETDB1_chr1_150900450_ENST00000368969_PIP5K1A_chr1_151219396_ENST00000441902_length(amino acids)=102AA_BP=0
MSSLPGCIGLDAATATVESEEIAELQQAVVEELGISMEELRHFIDEELEKMDCVQQRKKQLAELETWVIQKESEVAHVDQLFDDASSTTL

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:150900450/chr1:151219396)
- 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.
FGviewer

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

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSETDB1chr1:150900450chr1:151219396ENST00000271640+22218_6486.666666666666671292.0Coiled coilOntology_term=ECO:0000255
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368962+2918_6486.66666666666667398.0Coiled coilOntology_term=ECO:0000255
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368969+22218_6486.666666666666671291.0Coiled coilOntology_term=ECO:0000255

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSETDB1chr1:150900450chr1:151219396ENST00000271640+2221275_129186.666666666666671292.0DomainPost-SET
HgeneSETDB1chr1:150900450chr1:151219396ENST00000271640+222257_32086.666666666666671292.0DomainNote=Tudor 1
HgeneSETDB1chr1:150900450chr1:151219396ENST00000271640+222347_40386.666666666666671292.0DomainNote=Tudor 2
HgeneSETDB1chr1:150900450chr1:151219396ENST00000271640+222594_66586.666666666666671292.0DomainMBD
HgeneSETDB1chr1:150900450chr1:151219396ENST00000271640+222727_80086.666666666666671292.0DomainPre-SET
HgeneSETDB1chr1:150900450chr1:151219396ENST00000271640+222803_126686.666666666666671292.0DomainSET
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368962+291275_129186.66666666666667398.0DomainPost-SET
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368962+29257_32086.66666666666667398.0DomainNote=Tudor 1
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368962+29347_40386.66666666666667398.0DomainNote=Tudor 2
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368962+29594_66586.66666666666667398.0DomainMBD
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368962+29727_80086.66666666666667398.0DomainPre-SET
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368962+29803_126686.66666666666667398.0DomainSET
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368969+2221275_129186.666666666666671291.0DomainPost-SET
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368969+222257_32086.666666666666671291.0DomainNote=Tudor 1
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368969+222347_40386.666666666666671291.0DomainNote=Tudor 2
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368969+222594_66586.666666666666671291.0DomainMBD
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368969+222727_80086.666666666666671291.0DomainPre-SET
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368969+222803_126686.666666666666671291.0DomainSET
HgeneSETDB1chr1:150900450chr1:151219396ENST00000271640+2221223_122486.666666666666671292.0RegionS-adenosyl-L-methionine binding
HgeneSETDB1chr1:150900450chr1:151219396ENST00000271640+222813_81586.666666666666671292.0RegionS-adenosyl-L-methionine binding
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368962+291223_122486.66666666666667398.0RegionS-adenosyl-L-methionine binding
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368962+29813_81586.66666666666667398.0RegionS-adenosyl-L-methionine binding
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368969+2221223_122486.666666666666671291.0RegionS-adenosyl-L-methionine binding
HgeneSETDB1chr1:150900450chr1:151219396ENST00000368969+222813_81586.666666666666671291.0RegionS-adenosyl-L-methionine binding
TgenePIP5K1Achr1:150900450chr1:151219396ENST00000368888131681_449546.6666666666666563.0DomainPIPK
TgenePIP5K1Achr1:150900450chr1:151219396ENST00000368890111481_449484.6666666666667501.0DomainPIPK
TgenePIP5K1Achr1:150900450chr1:151219396ENST00000441902111481_449506.6666666666667523.0DomainPIPK


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
SETDB1
PIP5K1A


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to SETDB1-PIP5K1A


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

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Related Diseases to SETDB1-PIP5K1A


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

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource