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Fusion gene ID: 35953 |
FusionGeneSummary for SREBF2_PPAPDC1A |
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Fusion gene information | Fusion gene name: SREBF2_PPAPDC1A | Fusion gene ID: 35953 | Hgene | Tgene | Gene symbol | SREBF2 | PPAPDC1A | Gene ID | 6721 | 196051 |
Gene name | sterol regulatory element binding transcription factor 2 | phospholipid phosphatase 4 | |
Synonyms | SREBP-2|SREBP2|bHLHd2 | DPPL2|PPAPDC1|PPAPDC1A | |
Cytomap | 22q13.2 | 10q26.12 | |
Type of gene | protein-coding | protein-coding | |
Description | sterol regulatory element-binding protein 2class D basic helix-loop-helix protein 2 | phospholipid 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 date | 20180522 | 20180523 | |
UniProtAcc | Q12772 | ||
Ensembl transtripts involved in fusion gene | ENST00000361204, ENST00000491541, | ENST00000398250, ENST00000439221, ENST00000398248, ENST00000541332, ENST00000369073, ENST00000496437, | |
Fusion gene scores | * DoF score | 19 X 18 X 5=1710 | 6 X 3 X 6=108 |
# samples | 21 | 8 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SREBF2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15358760|19098903 |
Hgene | SREBF2 | GO:0010886 | positive regulation of cholesterol storage | 15358760 |
Hgene | SREBF2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12242332|12446768 |
Hgene | SREBF2 | GO:0072368 | regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter | 15358760 |
Hgene | SREBF2 | GO:0090370 | negative regulation of cholesterol efflux | 15358760 |
Tgene | PPAPDC1A | GO:0046839 | phospholipid dephosphorylation | 17590538 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LUAD | TCGA-97-8175-01A | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
In-frame | ENST00000361204 | ENST00000398250 | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
In-frame | ENST00000361204 | ENST00000439221 | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
5CDS-intron | ENST00000361204 | ENST00000398248 | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
5CDS-intron | ENST00000361204 | ENST00000541332 | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
5CDS-intron | ENST00000361204 | ENST00000369073 | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
5CDS-intron | ENST00000361204 | ENST00000496437 | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
intron-3CDS | ENST00000491541 | ENST00000398250 | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
intron-3CDS | ENST00000491541 | ENST00000439221 | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
intron-intron | ENST00000491541 | ENST00000398248 | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
intron-intron | ENST00000491541 | ENST00000541332 | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
intron-intron | ENST00000491541 | ENST00000369073 | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
intron-intron | ENST00000491541 | ENST00000496437 | SREBF2 | chr22 | 42229362 | + | PPAPDC1A | chr10 | 122334643 | + |
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FusionProtFeatures for SREBF2_PPAPDC1A |
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Hgene | Tgene |
SREBF2 | 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}. |
![]() * 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 |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398248 | + | 0 | 3 | 102_110 | -118 | 97 | Region | Note=Phosphatase sequence motif I |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398248 | + | 0 | 3 | 143_146 | -118 | 97 | Region | Note=Phosphatase sequence motif II |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398248 | + | 0 | 3 | 195_205 | -118 | 97 | Region | Note=Phosphatase sequence motif III |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398250 | + | 4 | 7 | 195_205 | 148 | 272 | Region | Note=Phosphatase sequence motif III |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000439221 | + | 2 | 5 | 102_110 | 85 | 209 | Region | Note=Phosphatase sequence motif I |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000439221 | + | 2 | 5 | 143_146 | 85 | 209 | Region | Note=Phosphatase sequence motif II |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000439221 | + | 2 | 5 | 195_205 | 85 | 209 | Region | Note=Phosphatase sequence motif III |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398248 | + | 0 | 3 | 142_162 | -118 | 97 | Transmembrane | Helical |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398248 | + | 0 | 3 | 179_199 | -118 | 97 | Transmembrane | Helical |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398248 | + | 0 | 3 | 202_222 | -118 | 97 | Transmembrane | Helical |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398248 | + | 0 | 3 | 49_69 | -118 | 97 | Transmembrane | Helical |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398248 | + | 0 | 3 | 4_24 | -118 | 97 | Transmembrane | Helical |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398248 | + | 0 | 3 | 84_104 | -118 | 97 | Transmembrane | Helical |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398250 | + | 4 | 7 | 179_199 | 148 | 272 | Transmembrane | Helical |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398250 | + | 4 | 7 | 202_222 | 148 | 272 | Transmembrane | Helical |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000439221 | + | 2 | 5 | 142_162 | 85 | 209 | Transmembrane | Helical |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000439221 | + | 2 | 5 | 179_199 | 85 | 209 | Transmembrane | Helical |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000439221 | + | 2 | 5 | 202_222 | 85 | 209 | Transmembrane | Helical |
Tgene | >PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000439221 | + | 2 | 5 | 84_104 | 85 | 209 | Transmembrane | Helical |
- 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 | >SREBF2 | chr22:42229362 | chr10:122334643 | ENST00000361204 | + | 1 | 19 | 125_244 | 29 | 1142 | Compositional bias | Note=Gln-rich |
Hgene | >SREBF2 | chr22:42229362 | chr10:122334643 | ENST00000361204 | + | 1 | 19 | 52_124 | 29 | 1142 | Compositional bias | Note=Gly/Pro/Ser-rich |
Hgene | >SREBF2 | chr22:42229362 | chr10:122334643 | ENST00000361204 | + | 1 | 19 | 330_380 | 29 | 1142 | Domain | bHLH |
Hgene | >SREBF2 | chr22:42229362 | chr10:122334643 | ENST00000361204 | + | 1 | 19 | 1_50 | 29 | 1142 | Region | Note=Transcriptional activation (acidic) |
Hgene | >SREBF2 | chr22:42229362 | chr10:122334643 | ENST00000361204 | + | 1 | 19 | 380_401 | 29 | 1142 | Region | Note=Leucine-zipper |
Hgene | >SREBF2 | chr22:42229362 | chr10:122334643 | ENST00000361204 | + | 1 | 19 | 1_479 | 29 | 1142 | Topological domain | Cytoplasmic |
Hgene | >SREBF2 | chr22:42229362 | chr10:122334643 | ENST00000361204 | + | 1 | 19 | 501_533 | 29 | 1142 | Topological domain | Lumenal |
Hgene | >SREBF2 | chr22:42229362 | chr10:122334643 | ENST00000361204 | + | 1 | 19 | 555_1139 | 29 | 1142 | Topological domain | Cytoplasmic |
Hgene | >SREBF2 | chr22:42229362 | chr10:122334643 | ENST00000361204 | + | 1 | 19 | 480_500 | 29 | 1142 | Transmembrane | Helical |
Hgene | >SREBF2 | chr22:42229362 | chr10:122334643 | ENST00000361204 | + | 1 | 19 | 534_554 | 29 | 1142 | Transmembrane | Helical |
Tgene | PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398250 | + | 4 | 7 | 102_110 | 148 | 272 | Region | Note=Phosphatase sequence motif I |
Tgene | PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398250 | + | 4 | 7 | 143_146 | 148 | 272 | Region | Note=Phosphatase sequence motif II |
Tgene | PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398250 | + | 4 | 7 | 142_162 | 148 | 272 | Transmembrane | Helical |
Tgene | PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398250 | + | 4 | 7 | 49_69 | 148 | 272 | Transmembrane | Helical |
Tgene | PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398250 | + | 4 | 7 | 4_24 | 148 | 272 | Transmembrane | Helical |
Tgene | PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000398250 | + | 4 | 7 | 84_104 | 148 | 272 | Transmembrane | Helical |
Tgene | PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000439221 | + | 2 | 5 | 49_69 | 85 | 209 | Transmembrane | Helical |
Tgene | PPAPDC1A | chr22:42229362 | chr10:122334643 | ENST00000439221 | + | 2 | 5 | 4_24 | 85 | 209 | Transmembrane | Helical |
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FusionGeneSequence for SREBF2_PPAPDC1A |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SREBF2 | INSIG1, 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, MTNR1B | PPAPDC1A | PPAPDC1A, LMNA |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | SREBF2 | chr22:42229362 | chr10:122334643 | ENST00000361204 | + | 1 | 19 | 237_491 | 29 | 1142 | LMNA |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SREBF2_PPAPDC1A |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SREBF2_PPAPDC1A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SREBF2 | C0021655 | Insulin Resistance | 1 | CTD_human |
Hgene | SREBF2 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
Hgene | SREBF2 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | SREBF2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | SREBF2 | C2239176 | Liver carcinoma | 1 | CTD_human |