|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 26874 |
FusionGeneSummary for PHB2_SPINT1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PHB2_SPINT1 | Fusion gene ID: 26874 | Hgene | Tgene | Gene symbol | PHB2 | SPINT1 | Gene ID | 11331 | 6692 |
| Gene name | prohibitin 2 | serine peptidase inhibitor, Kunitz type 1 | |
| Synonyms | BAP|BCAP37|Bap37|PNAS-141|REA|hBAP|p22 | HAI|HAI1|MANSC2 | |
| Cytomap | 12p13.31 | 15q15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | prohibitin-2B-cell associated proteinB-cell receptor-associated protein BAP37D-prohibitinrepressor of estrogen receptor activity | kunitz-type protease inhibitor 1HAI-1hepatocyte growth factor activator inhibitor type 1serine protease inhibitor, Kunitz type 1 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q99623 | O43278 | |
| Ensembl transtripts involved in fusion gene | ENST00000546111, ENST00000535923, ENST00000542912, ENST00000440277, ENST00000399433, ENST00000544134, | ENST00000562057, ENST00000344051, ENST00000431806, | |
| Fusion gene scores | * DoF score | 7 X 7 X 2=98 | 3 X 3 X 1=9 |
| # samples | 7 | 5 | |
| ** MAII score | log2(7/98*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/9*10)=2.47393118833241 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PHB2 [Title/Abstract] AND SPINT1 [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 | PHB2 | GO:0000060 | protein import into nucleus, translocation | 17008324|19116139 |
| Hgene | PHB2 | GO:0007062 | sister chromatid cohesion | 23548868 |
| Hgene | PHB2 | GO:0030449 | regulation of complement activation | 17070910 |
| Hgene | PHB2 | GO:0045892 | negative regulation of transcription, DNA-templated | 10359819 |
| Hgene | PHB2 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 18629613 |
| 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 |
| ChiTaRS3.1 | BE281028 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| * 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 |
| Frame-shit | ENST00000546111 | ENST00000562057 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000546111 | ENST00000344051 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000546111 | ENST00000431806 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000535923 | ENST00000562057 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000535923 | ENST00000344051 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000535923 | ENST00000431806 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000542912 | ENST00000562057 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000542912 | ENST00000344051 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000542912 | ENST00000431806 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000440277 | ENST00000562057 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000440277 | ENST00000344051 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000440277 | ENST00000431806 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000399433 | ENST00000562057 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000399433 | ENST00000344051 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| Frame-shit | ENST00000399433 | ENST00000431806 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| 5UTR-3CDS | ENST00000544134 | ENST00000562057 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| 5UTR-3CDS | ENST00000544134 | ENST00000344051 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
| 5UTR-3CDS | ENST00000544134 | ENST00000431806 | PHB2 | chr12 | 7079358 | - | SPINT1 | chr15 | 41148087 | + |
Top |
FusionProtFeatures for PHB2_SPINT1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PHB2 | SPINT1 |
| Acts as a mediator of transcriptional repression bynuclear hormone receptors via recruitment of histone deacetylases(By similarity). Functions as an estrogen receptor (ER)-selectivecoregulator that potentiates the inhibitory activities ofantiestrogens and represses the activity of estrogens. Competeswith NCOA1 for modulation of ER transcriptional activity. Probablyinvolved in regulating mitochondrial respiration activity and inaging. {ECO:0000250|UniProtKB:O35129, ECO:0000269|PubMed:10359819,ECO:0000303|PubMed:11302691}. | Inhibitor of HGF activator. Also acts as an inhibitor ofmatriptase (ST14). |
| 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 |
| - 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 |
Top |
FusionGeneSequence for PHB2_SPINT1 |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for PHB2_SPINT1 |
| 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 |
| PHB2 | CTNNB1, TFE3, SIRT2, CDC25B, SERINC3, JUP, NUP205, USP15, MMS19, PDXDC1, RIPK2, DDX20, NUP93, NELFCD, RUNX3, TIMM50, EPPK1, COPG1, LGALS3BP, ESR1, PTMA, ATG2A, HDAC1, HDAC2, HDAC3, HDAC5, NR2F1, NR2F2, EZH2, PHB, RNF185, ICT1, AGO3, CDK2, RNF2, KIAA1244, ILF3, UQCRC1, TUFM, AKT1, MYOD1, MEF2A, FHL2, BRCA1, ECT2, MDC1, PAXIP1, FMNL1, EPAS1, FN1, VCAM1, C1QBP, ATF2, UBL4A, ITGA4, ADRB2, TEAD3, AFP, UPF2, ASB14, ASB17, STAU1, NCOR1, IGF1R, HUWE1, PPARG, SUZ12, EED, BLK, RIC3, XIAP, NMRAL1, HNRNPA1, UNK, NTRK1, ATP6V1C1, CCDC47, COX4I1, GOSR1, LGALS1, MRPL17, NDUFB8, AFG3L2, ATAD3A, ATAD3B, ATL3, ATP5L, CLTC, CYB5B, CYC1, HNRNPA3, IDH1, LDHB, LMAN1, MRPL2, MRPL40, MTCH2, NDUFA2, NDUFB7, NDUFS8, NDUFV1, PSMC3, RAB11B, STOML2, TOMM40, TUBB, TUBB4B, VAPA, VDAC1, VDAC2, VDAC3, PTBP1, SSR1, FAP, ANKRA2, RFXANK, MED20, PTPN1, RAB2A, RAB5C, TMPO, XRCC3, RAB7A, AKAP1, RAB11A, EMC2, MTX2, FGFR1OP2, GOLT1B, TMEM63B, YIPF5, MMGT1, TRIM29, MCM2, MCM5, GLI1, ESRRB, U2AF2, KPNA1, KPNA2, KPNA5, KPNA6, ARMC7, ZNF746, TPTE, STOM, ALDH2, TUBA1A, CYLD, LMNA, YAP1, MTF1, BRD1 | SPINT1 | ST14, UBQLN4, FAM46A, ZNF250, NLGN3 |
| - 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 PHB2_SPINT1 |
| 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 |
| Hgene | PHB2 | Q99623 | DB06774 | Capsaicin | Prohibitin-2 | small molecule | approved |
Top |
RelatedDiseases for PHB2_SPINT1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|