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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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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 35953

FusionGeneSummary for SREBF2_PPAPDC1A

check button Fusion gene summary
Fusion gene informationFusion gene name: SREBF2_PPAPDC1A
Fusion gene ID: 35953
HgeneTgene
Gene symbol

SREBF2

PPAPDC1A

Gene ID

6721

196051

Gene namesterol regulatory element binding transcription factor 2phospholipid phosphatase 4
SynonymsSREBP-2|SREBP2|bHLHd2DPPL2|PPAPDC1|PPAPDC1A
Cytomap

22q13.2

10q26.12

Type of geneprotein-codingprotein-coding
Descriptionsterol regulatory element-binding protein 2class D basic helix-loop-helix protein 2phospholipid phosphatase 4diacylglycerol pyrophosphate like 2diacylglycerol pyrophosphate phosphatase-like 2phosphatidate phosphatase PPAPDC1Aphosphatidic acid phosphatase type 2 domain containing 1Aphosphatidic acid phosphatase type 2 domain-contain
Modification date2018052220180523
UniProtAcc

Q12772

Ensembl transtripts involved in fusion geneENST00000361204, ENST00000491541, 
ENST00000398250, ENST00000439221, 
ENST00000398248, ENST00000541332, 
ENST00000369073, ENST00000496437, 
Fusion gene scores* DoF score19 X 18 X 5=17106 X 3 X 6=108
# samples 218
** MAII scorelog2(21/1710*10)=-3.02553509210714
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/108*10)=-0.432959407276106
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SREBF2 [Title/Abstract] AND PPAPDC1A [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
HgeneSREBF2

GO:0000122

negative regulation of transcription by RNA polymerase II

15358760|19098903

HgeneSREBF2

GO:0010886

positive regulation of cholesterol storage

15358760

HgeneSREBF2

GO:0045944

positive regulation of transcription by RNA polymerase II

12242332|12446768

HgeneSREBF2

GO:0072368

regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter

15358760

HgeneSREBF2

GO:0090370

negative regulation of cholesterol efflux

15358760

TgenePPAPDC1A

GO:0046839

phospholipid dephosphorylation

17590538


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
TCGARVLUADTCGA-97-8175-01ASREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+
* 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-frameENST00000361204ENST00000398250SREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+
In-frameENST00000361204ENST00000439221SREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+
5CDS-intronENST00000361204ENST00000398248SREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+
5CDS-intronENST00000361204ENST00000541332SREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+
5CDS-intronENST00000361204ENST00000369073SREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+
5CDS-intronENST00000361204ENST00000496437SREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+
intron-3CDSENST00000491541ENST00000398250SREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+
intron-3CDSENST00000491541ENST00000439221SREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+
intron-intronENST00000491541ENST00000398248SREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+
intron-intronENST00000491541ENST00000541332SREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+
intron-intronENST00000491541ENST00000369073SREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+
intron-intronENST00000491541ENST00000496437SREBF2chr22

42229362

+PPAPDC1Achr10

122334643

+

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FusionProtFeatures for SREBF2_PPAPDC1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SREBF2

Q12772

PPAPDC1A

Transcriptional activator required for lipidhomeostasis. Regulates transcription of the LDL receptor gene aswell as the cholesterol and to a lesser degree the fatty acidsynthesis pathway (By similarity). Binds the sterol regulatoryelement 1 (SRE-1) (5'-ATCACCCCAC-3') found in the flanking regionof the LDRL and HMG-CoA synthase genes. {ECO:0000250}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398248+03102_110-11897RegionNote=Phosphatase sequence motif I
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398248+03143_146-11897RegionNote=Phosphatase sequence motif II
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398248+03195_205-11897RegionNote=Phosphatase sequence motif III
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398250+47195_205148272RegionNote=Phosphatase sequence motif III
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000439221+25102_11085209RegionNote=Phosphatase sequence motif I
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000439221+25143_14685209RegionNote=Phosphatase sequence motif II
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000439221+25195_20585209RegionNote=Phosphatase sequence motif III
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398248+03142_162-11897TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398248+03179_199-11897TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398248+03202_222-11897TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398248+0349_69-11897TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398248+034_24-11897TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398248+0384_104-11897TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398250+47179_199148272TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398250+47202_222148272TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000439221+25142_16285209TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000439221+25179_19985209TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000439221+25202_22285209TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000439221+2584_10485209TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSREBF2chr22:42229362chr10:122334643ENST00000361204+119125_244291142Compositional biasNote=Gln-rich
HgeneSREBF2chr22:42229362chr10:122334643ENST00000361204+11952_124291142Compositional biasNote=Gly/Pro/Ser-rich
HgeneSREBF2chr22:42229362chr10:122334643ENST00000361204+119330_380291142DomainbHLH
HgeneSREBF2chr22:42229362chr10:122334643ENST00000361204+1191_50291142RegionNote=Transcriptional activation (acidic)
HgeneSREBF2chr22:42229362chr10:122334643ENST00000361204+119380_401291142RegionNote=Leucine-zipper
HgeneSREBF2chr22:42229362chr10:122334643ENST00000361204+1191_479291142Topological domainCytoplasmic
HgeneSREBF2chr22:42229362chr10:122334643ENST00000361204+119501_533291142Topological domainLumenal
HgeneSREBF2chr22:42229362chr10:122334643ENST00000361204+119555_1139291142Topological domainCytoplasmic
HgeneSREBF2chr22:42229362chr10:122334643ENST00000361204+119480_500291142TransmembraneHelical
HgeneSREBF2chr22:42229362chr10:122334643ENST00000361204+119534_554291142TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398250+47102_110148272RegionNote=Phosphatase sequence motif I
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398250+47143_146148272RegionNote=Phosphatase sequence motif II
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398250+47142_162148272TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398250+4749_69148272TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398250+474_24148272TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000398250+4784_104148272TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000439221+2549_6985209TransmembraneHelical
TgenePPAPDC1Achr22:42229362chr10:122334643ENST00000439221+254_2485209TransmembraneHelical


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FusionGeneSequence for SREBF2_PPAPDC1A


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_SREBF2_ENST00000361204_chr22_42229362_+_PPAPDC1A_ENST00000398250_chr10_122334643_+_153aa
MDDSGELGGLETMETLTELGDELTLGDIDVAFSGLGFTTFYLAGKLHCFTESGRGKSWRLCAAILPLYCAMMIALSRMCDYKHHWQDSFV

>In-frame_SREBF2_ENST00000361204_chr22_42229362_+_PPAPDC1A_ENST00000439221_chr10_122334643_+_153aa
MDDSGELGGLETMETLTELGDELTLGDIDVAFSGLGFTTFYLAGKLHCFTESGRGKSWRLCAAILPLYCAMMIALSRMCDYKHHWQDSFV


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SREBF2_ENST00000361204_chr22_42229362_+_PPAPDC1A_ENST00000398250_chr10_122334643_+_459nt
ATGGACGACAGCGGCGAGCTGGGTGGTCTGGAGACCATGGAGACCCTCACGGAGCTGGGCGACGAGCTGACCCTGGGAGACATCGACGTT
GCCTTTTCGGGCCTTGGCTTCACGACGTTCTACTTGGCGGGCAAGCTGCACTGCTTCACCGAGAGTGGGCGGGGAAAGAGCTGGCGGCTC
TGTGCTGCCATCCTGCCCTTGTACTGCGCCATGATGATTGCCCTGTCCCGCATGTGCGACTACAAGCATCACTGGCAAGATTCCTTTGTG
GGTGGAGTCATCGGCCTCATTTTTGCATACATTTGCTACAGACAGCACTATCCTCCTCTGGCCAACACAGCTTGCCATAAACCCTACGTT
AGTCTGCGAGTCCCAGCCTCACTGAAGAAAGAGGAGAGGCCCACAGCTGACAGCGCACCCAGCTTGCCTCTGGAGGGGATCACCGAAGGC

>In-frame_SREBF2_ENST00000361204_chr22_42229362_+_PPAPDC1A_ENST00000439221_chr10_122334643_+_459nt
ATGGACGACAGCGGCGAGCTGGGTGGTCTGGAGACCATGGAGACCCTCACGGAGCTGGGCGACGAGCTGACCCTGGGAGACATCGACGTT
GCCTTTTCGGGCCTTGGCTTCACGACGTTCTACTTGGCGGGCAAGCTGCACTGCTTCACCGAGAGTGGGCGGGGAAAGAGCTGGCGGCTC
TGTGCTGCCATCCTGCCCTTGTACTGCGCCATGATGATTGCCCTGTCCCGCATGTGCGACTACAAGCATCACTGGCAAGATTCCTTTGTG
GGTGGAGTCATCGGCCTCATTTTTGCATACATTTGCTACAGACAGCACTATCCTCCTCTGGCCAACACAGCTTGCCATAAACCCTACGTT
AGTCTGCGAGTCCCAGCCTCACTGAAGAAAGAGGAGAGGCCCACAGCTGACAGCGCACCCAGCTTGCCTCTGGAGGGGATCACCGAAGGC


* Fusion transcript sequences (Full-length transcript).
>In-frame_SREBF2_ENST00000361204_chr22_42229362_+_PPAPDC1A_ENST00000398250_chr10_122334643_+_978nt
CTTTCTGTGCGGCGCCCGGGCGCAACGCAAACATGGCGGCGGGTGGCACCCGTCGGTGAGGCGGTGCCGGGCGGGGGTTGTCGGGTGTCA
TGGGCGGTGGCGACGGCACCGCCCCCGCGTCTCCCTGAGCGGGACGGCAGGGGGGGCTTCTGCGCTGAGCCGGGCGATGGACGACAGCGG
CGAGCTGGGTGGTCTGGAGACCATGGAGACCCTCACGGAGCTGGGCGACGAGCTGACCCTGGGAGACATCGACGTTGCCTTTTCGGGCCT
TGGCTTCACGACGTTCTACTTGGCGGGCAAGCTGCACTGCTTCACCGAGAGTGGGCGGGGAAAGAGCTGGCGGCTCTGTGCTGCCATCCT
GCCCTTGTACTGCGCCATGATGATTGCCCTGTCCCGCATGTGCGACTACAAGCATCACTGGCAAGATTCCTTTGTGGGTGGAGTCATCGG
CCTCATTTTTGCATACATTTGCTACAGACAGCACTATCCTCCTCTGGCCAACACAGCTTGCCATAAACCCTACGTTAGTCTGCGAGTCCC
AGCCTCACTGAAGAAAGAGGAGAGGCCCACAGCTGACAGCGCACCCAGCTTGCCTCTGGAGGGGATCACCGAAGGCCCGGTATGACCAGT
GTCCTGGGAGGATGGACACTAAGCCCTGGGCACATCTGCCACCCTGACATCATAACACAATAGAAATGGTTTTCTGTAGTGTATTTTTCA
TCAGTTGTTTCTCAAAGTCATCGTACTTCTGCTTCTGTTTCACTGATGGTGTTCCTGCTACTTTAAATGTCTACTTCCAACATCCTTGAA
TTTGCAAGTGAAGGACAACAATCTCTGAGAGACGTGTGGAAGAGGCTGTGAAGGTGGGGTTTGGGGAGCTTGGCCGATTCGTCTATCTGA

>In-frame_SREBF2_ENST00000361204_chr22_42229362_+_PPAPDC1A_ENST00000439221_chr10_122334643_+_978nt
CTTTCTGTGCGGCGCCCGGGCGCAACGCAAACATGGCGGCGGGTGGCACCCGTCGGTGAGGCGGTGCCGGGCGGGGGTTGTCGGGTGTCA
TGGGCGGTGGCGACGGCACCGCCCCCGCGTCTCCCTGAGCGGGACGGCAGGGGGGGCTTCTGCGCTGAGCCGGGCGATGGACGACAGCGG
CGAGCTGGGTGGTCTGGAGACCATGGAGACCCTCACGGAGCTGGGCGACGAGCTGACCCTGGGAGACATCGACGTTGCCTTTTCGGGCCT
TGGCTTCACGACGTTCTACTTGGCGGGCAAGCTGCACTGCTTCACCGAGAGTGGGCGGGGAAAGAGCTGGCGGCTCTGTGCTGCCATCCT
GCCCTTGTACTGCGCCATGATGATTGCCCTGTCCCGCATGTGCGACTACAAGCATCACTGGCAAGATTCCTTTGTGGGTGGAGTCATCGG
CCTCATTTTTGCATACATTTGCTACAGACAGCACTATCCTCCTCTGGCCAACACAGCTTGCCATAAACCCTACGTTAGTCTGCGAGTCCC
AGCCTCACTGAAGAAAGAGGAGAGGCCCACAGCTGACAGCGCACCCAGCTTGCCTCTGGAGGGGATCACCGAAGGCCCGGTATGACCAGT
GTCCTGGGAGGATGGACACTAAGCCCTGGGCACATCTGCCACCCTGACATCATAACACAATAGAAATGGTTTTCTGTAGTGTATTTTTCA
TCAGTTGTTTCTCAAAGTCATCGTACTTCTGCTTCTGTTTCACTGATGGTGTTCCTGCTACTTTAAATGTCTACTTCCAACATCCTTGAA
TTTGCAAGTGAAGGACAACAATCTCTGAGAGACGTGTGGAAGAGGCTGTGAAGGTGGGGTTTGGGGAGCTTGGCCGATTCGTCTATCTGA


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FusionGenePPI for SREBF2_PPAPDC1A


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
SREBF2INSIG1, UBE2I, CREBBP, EP300, KPNB1, SREBF2, SP1, CASP3, MAPK3, MAPK1, ARRB1, EGR1, FHL3, GOLGB1, HSPA5, ITGB4, ABLIM1, NFYA, PSMD4, ATXN1, SPTBN1, NFYC, CREB1, TTC1, ZMYM2, ZYX, PIAS1, SLC4A4, PIAS2, ARHGEF1, CASP8AP2, PIAS3, OS9, COPS5, ZDHHC17, ATF7IP, ABLIM2, LZTR1, KLF13, ATF6, HNF4A, SMAD3, RNF139, HINFP, NPAT, TRRAP, SREBF1, SCAP, PARK7, NAE1, MRPS6, ERLIN2, HDAC3, SPINT2, HLA-DPA1, NRG1, CGRRF1, PTH1R, SLC39A4, AURKA, CDH5, ZNRF4, TMCO3, DKK3, CHRND, IL17RC, CD79B, SLC4A8, SLC39A12, MTNR1BPPAPDC1APPAPDC1A, LMNA


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
HgeneSREBF2chr22:42229362chr10:122334643ENST00000361204+119237_491291142LMNA


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SREBF2_PPAPDC1A


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 SREBF2_PPAPDC1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSREBF2C0021655Insulin Resistance1CTD_human
HgeneSREBF2C0022661Kidney Failure, Chronic1CTD_human
HgeneSREBF2C0036341Schizophrenia1PSYGENET
HgeneSREBF2C0038356Stomach Neoplasms1CTD_human
HgeneSREBF2C2239176Liver carcinoma1CTD_human