|
Fusion gene ID: 28492 |
FusionGeneSummary for PPP3R1_TTC27 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PPP3R1_TTC27 | Fusion gene ID: 28492 | Hgene | Tgene | Gene symbol | PPP3R1 | TTC27 | Gene ID | 5534 | 55622 |
Gene name | protein phosphatase 3 regulatory subunit B, alpha | tetratricopeptide repeat domain 27 | |
Synonyms | CALNB1|CNB|CNB1 | - | |
Cytomap | 2p14 | 2p22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | calcineurin subunit B type 1calcineurin B, type I (19kDa)protein phosphatase 2B regulatory subunit 1protein phosphatase 2B regulatory subunit B alphaprotein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I | tetratricopeptide repeat protein 27TPR repeat protein 27 | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | P63098 | Q6P3X3 | |
Ensembl transtripts involved in fusion gene | ENST00000234310, ENST00000409752, ENST00000409377, | ENST00000317907, | |
Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 4 X 4 X 3=48 |
# samples | 4 | 5 | |
** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PPP3R1 [Title/Abstract] AND TTC27 [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) |
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 | PPP3R1 | GO:0033173 | calcineurin-NFAT signaling cascade | 22688515 |
Hgene | PPP3R1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22688515 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | BRCA | TCGA-A2-A0YG-01A | PPP3R1 | chr2 | 68479257 | - | TTC27 | chr2 | 33007693 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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 |
In-frame | ENST00000234310 | ENST00000317907 | PPP3R1 | chr2 | 68479257 | - | TTC27 | chr2 | 33007693 | + |
intron-3CDS | ENST00000409752 | ENST00000317907 | PPP3R1 | chr2 | 68479257 | - | TTC27 | chr2 | 33007693 | + |
intron-3CDS | ENST00000409377 | ENST00000317907 | PPP3R1 | chr2 | 68479257 | - | TTC27 | chr2 | 33007693 | + |
Top |
FusionProtFeatures for PPP3R1_TTC27 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PPP3R1 | TTC27 |
Regulatory subunit of calcineurin, a calcium-dependent,calmodulin stimulated protein phosphatase. Confers calciumsensitivity. {ECO:0000269|PubMed:26794871}. |
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 . * 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 | >TTC27 | chr2:68479257 | chr2:33007693 | ENST00000317907 | + | 13 | 20 | 596_628 | 593 | 844 | Repeat | Note=TPR 5 |
Tgene | >TTC27 | chr2:68479257 | chr2:33007693 | ENST00000317907 | + | 13 | 20 | 629_662 | 593 | 844 | Repeat | Note=TPR 6 |
- 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 | >PPP3R1 | chr2:68479257 | chr2:33007693 | ENST00000234310 | - | 1 | 6 | 100_111 | 1 | 171 | Calcium binding | 3 |
Hgene | >PPP3R1 | chr2:68479257 | chr2:33007693 | ENST00000234310 | - | 1 | 6 | 141_152 | 1 | 171 | Calcium binding | 4 |
Hgene | >PPP3R1 | chr2:68479257 | chr2:33007693 | ENST00000234310 | - | 1 | 6 | 31_42 | 1 | 171 | Calcium binding | 1 |
Hgene | >PPP3R1 | chr2:68479257 | chr2:33007693 | ENST00000234310 | - | 1 | 6 | 63_74 | 1 | 171 | Calcium binding | 2 |
Hgene | >PPP3R1 | chr2:68479257 | chr2:33007693 | ENST00000234310 | - | 1 | 6 | 128_163 | 1 | 171 | Domain | EF-hand 4 |
Hgene | >PPP3R1 | chr2:68479257 | chr2:33007693 | ENST00000234310 | - | 1 | 6 | 18_51 | 1 | 171 | Domain | EF-hand 1 |
Hgene | >PPP3R1 | chr2:68479257 | chr2:33007693 | ENST00000234310 | - | 1 | 6 | 50_85 | 1 | 171 | Domain | EF-hand 2 |
Hgene | >PPP3R1 | chr2:68479257 | chr2:33007693 | ENST00000234310 | - | 1 | 6 | 87_122 | 1 | 171 | Domain | EF-hand 3 |
Hgene | >PPP3R1 | chr2:68479257 | chr2:33007693 | ENST00000234310 | - | 1 | 6 | 131_136 | 1 | 171 | Region | Calcineurin A binding |
Tgene | TTC27 | chr2:68479257 | chr2:33007693 | ENST00000317907 | + | 13 | 20 | 453_486 | 593 | 844 | Repeat | Note=TPR 1 |
Tgene | TTC27 | chr2:68479257 | chr2:33007693 | ENST00000317907 | + | 13 | 20 | 492_525 | 593 | 844 | Repeat | Note=TPR 2 |
Tgene | TTC27 | chr2:68479257 | chr2:33007693 | ENST00000317907 | + | 13 | 20 | 527_560 | 593 | 844 | Repeat | Note=TPR 3 |
Tgene | TTC27 | chr2:68479257 | chr2:33007693 | ENST00000317907 | + | 13 | 20 | 561_594 | 593 | 844 | Repeat | Note=TPR 4 |
Top |
FusionGeneSequence for PPP3R1_TTC27 |
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_PPP3R1_ENST00000234310_chr2_68479257_-_TTC27_ENST00000317907_chr2_33007693_+_252aa MNAEAWNNLSTSYIRLKQKVKAFRTLQEALKCNYEHWQIWENYILTSTDVGEFSEAIKAYHRLLDLRDKYKDVQVLKILVRAVIDGMTDR SGDVATGLKGKLQELFGRVTSRVTNDGEIWRLYAHVYGNGQSEKPDENEKAFQCLSKAYKCDTQSNCWEKDITSFKEVVQRALGLAHVAI |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_PPP3R1_ENST00000234310_chr2_68479257_-_TTC27_ENST00000317907_chr2_33007693_+_756nt ATGAATGCTGAAGCTTGGAACAATTTGTCAACTTCCTATATCCGATTAAAACAAAAAGTAAAAGCTTTTAGAACTTTACAAGAAGCTCTC AAGTGTAACTATGAACACTGGCAGATTTGGGAAAACTACATCCTCACCAGCACTGACGTTGGGGAATTTTCAGAAGCCATTAAAGCTTAT CACCGGCTCTTGGACTTACGTGACAAATACAAAGATGTTCAGGTCCTTAAAATTCTAGTCAGGGCAGTGATTGATGGGATGACTGATCGA AGTGGAGATGTTGCAACTGGCCTCAAAGGAAAGCTGCAGGAGTTATTTGGCAGAGTGACTTCAAGAGTGACAAATGATGGAGAAATCTGG AGGCTGTATGCCCACGTATATGGAAATGGGCAGAGTGAAAAGCCTGATGAAAATGAAAAGGCATTCCAGTGCCTCTCAAAGGCATACAAG TGTGACACCCAGTCCAATTGTTGGGAGAAAGATATTACATCATTTAAGGAAGTTGTTCAAAGAGCCTTAGGACTTGCACATGTGGCCATA AAATGCAGTAAAAACAAATCCAGTTCCCAAGAAGCTGTACAAATGCTTTCTTCTGTTCGACTCAATTTACGGGGCTTGTTATCTAAAGCA AAGCAACTTTTTACAGATGTGGCAACTGGAGAAATGTCCAGGGAATTAGCTGATGACATAACAGCTATGGACACCTTAGTGACAGAGCTC |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_PPP3R1_ENST00000234310_chr2_68479257_-_TTC27_ENST00000317907_chr2_33007693_+_1273nt TGCCTTGAGGTTGCGGGTCAGCGCGAGCCGCTGCAGTGAGTCCGTCACGGCTCCGGCGCGAGCGCGAGGCTGCAGCCCCCGAGTTTCCCG GCCGTCTTCGCCCCCTCTCCCCCTCCTTTCTTCTTCTCTGCCTCTCCTGCCTCTCGCCGCTGCTCCTCCCGCGCTCTCCGGCTCTGAATC TCGACCTTAATTTATTTCCCCCTACCCTGCCCGCTCCCTCGCGTGCCCAATCGCCCGGCCGGCGCGGGCCCCGCGGCGCCGCCTCCCCTC CCCCACGCGCGCCCCCTCCCCGCCGGCGACCCGAGGGCCGCAGCTGGGCCGCCGCCGCCGTTTCCTGCGAGCCAGCCTGAGCGCAACACT TCTCCGAGCCAGCGAGCCAGCGAGCCGCCGACCCGCCGAGCAAAATGAATGCTGAAGCTTGGAACAATTTGTCAACTTCCTATATCCGAT TAAAACAAAAAGTAAAAGCTTTTAGAACTTTACAAGAAGCTCTCAAGTGTAACTATGAACACTGGCAGATTTGGGAAAACTACATCCTCA CCAGCACTGACGTTGGGGAATTTTCAGAAGCCATTAAAGCTTATCACCGGCTCTTGGACTTACGTGACAAATACAAAGATGTTCAGGTCC TTAAAATTCTAGTCAGGGCAGTGATTGATGGGATGACTGATCGAAGTGGAGATGTTGCAACTGGCCTCAAAGGAAAGCTGCAGGAGTTAT TTGGCAGAGTGACTTCAAGAGTGACAAATGATGGAGAAATCTGGAGGCTGTATGCCCACGTATATGGAAATGGGCAGAGTGAAAAGCCTG ATGAAAATGAAAAGGCATTCCAGTGCCTCTCAAAGGCATACAAGTGTGACACCCAGTCCAATTGTTGGGAGAAAGATATTACATCATTTA AGGAAGTTGTTCAAAGAGCCTTAGGACTTGCACATGTGGCCATAAAATGCAGTAAAAACAAATCCAGTTCCCAAGAAGCTGTACAAATGC TTTCTTCTGTTCGACTCAATTTACGGGGCTTGTTATCTAAAGCAAAGCAACTTTTTACAGATGTGGCAACTGGAGAAATGTCCAGGGAAT TAGCTGATGACATAACAGCTATGGACACCTTAGTGACAGAGCTCCAAGACCTAAGCAACCAGTTTCGAAATCAGTATTGATTCTGCTGGA AGCAGATTCTGGAAAAGGTGCTTTCACCTGCTGGTAAAAGATACATCTGTATATCTGAAATGCAAGATATTGATTTTTAAAATAAATTTG |
Top |
FusionGenePPI for PPP3R1_TTC27 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PPP3R1 | PPIA, CABP2, CABP5, CABP1, ELAVL1, PSMA7, PDE4D, TRAF3, PPP3CA, IQCB1, NAP1L2, TP53, FAM122A, FCGR2A, PDHB, RCAN3, PPP3CC, RCAN2, MYH7, TINF2, PPP3CB, RCAN1, DEFA1, TMEM200A, KLRG2, NFATC1, DGCR14, SMPD3, CDR2, ARHGAP22, IGFBP6, CRTC2, SRBD1, DGUOK, NUFIP1, TRIM25 | TTC27 | PHLDA3, PTP4A3, MYC, TXLNA, NPM1, HDAC11, EGFR, FBXO6, C10orf76, CD2AP, GFPT1, MAPK3, NMD3, PPP2R5D, SKIV2L2, ASNS, CSTF1, CSTF2, DHX15, UFD1L, NTRK1, KRAS, FBXL12, FAF2, TTC27, EFTUD2, SNRNP200, PRPF8, CCT5, CCT6A, CCT4, CCT7, CCT2, AAR2, TCP1, CCT3, NCDN, ECD, TRIM25 |
- 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 |
Top |
RelatedDrugs for PPP3R1_TTC27 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for PPP3R1_TTC27 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PPP3R1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | PPP3R1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Hgene | PPP3R1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |