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Fusion gene ID: 17266 |
FusionGeneSummary for IGHMBP2_PITPNM1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IGHMBP2_PITPNM1 | Fusion gene ID: 17266 | Hgene | Tgene | Gene symbol | IGHMBP2 | PITPNM1 | Gene ID | 3508 | 9600 |
| Gene name | immunoglobulin mu binding protein 2 | phosphatidylinositol transfer protein membrane associated 1 | |
| Synonyms | CATF1|CMT2S|HCSA|HMN6|SMARD1|SMUBP2|ZFAND7 | DRES9|NIR2|PITPNM|RDGB|RDGB1|RDGBA|RDGBA1|Rd9 | |
| Cytomap | 11q13.3 | 11q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA-binding protein SMUBP-2ATP-dependent helicase IGHMBP2GF-1cardiac transcription factor 1glial factor 1zinc finger, AN1-type domain 7 | membrane-associated phosphatidylinositol transfer protein 1NIR-2PITPnm 1PYK2 N-terminal domain-interacting receptor 2drosophila retinal degeneration B homologretinal degeneration B alpha 1 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P38935 | O00562 | |
| Ensembl transtripts involved in fusion gene | ENST00000255078, ENST00000539224, ENST00000541229, | ENST00000534749, ENST00000436757, ENST00000356404, ENST00000526450, | |
| Fusion gene scores | * DoF score | 6 X 5 X 5=150 | 4 X 4 X 2=32 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: IGHMBP2 [Title/Abstract] AND PITPNM1 [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 | IGHMBP2 | GO:0051260 | protein homooligomerization | 19299493 |
| Tgene | PITPNM1 | GO:0015914 | phospholipid transport | 22822086 |
| 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 | LD | BRCA | TCGA-AC-A2BM-01A | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
| * 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 |
| intron-3CDS | ENST00000255078 | ENST00000534749 | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
| intron-3CDS | ENST00000255078 | ENST00000436757 | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
| intron-3CDS | ENST00000255078 | ENST00000356404 | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
| intron-intron | ENST00000255078 | ENST00000526450 | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
| intron-3CDS | ENST00000539224 | ENST00000534749 | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
| intron-3CDS | ENST00000539224 | ENST00000436757 | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
| intron-3CDS | ENST00000539224 | ENST00000356404 | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
| intron-intron | ENST00000539224 | ENST00000526450 | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
| intron-3CDS | ENST00000541229 | ENST00000534749 | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
| intron-3CDS | ENST00000541229 | ENST00000436757 | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
| intron-3CDS | ENST00000541229 | ENST00000356404 | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
| intron-intron | ENST00000541229 | ENST00000526450 | IGHMBP2 | chr11 | 68672398 | + | PITPNM1 | chr11 | 67259648 | - |
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FusionProtFeatures for IGHMBP2_PITPNM1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IGHMBP2 | PITPNM1 |
| 5' to 3' helicase that unwinds RNA and DNA duplices inan ATP-dependent reaction. Acts as a transcription regulator.Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificityto the enhancer element B of the flounder antifreeze protein geneintron. Binds to the insulin II gene RIPE3B enhancer region. Maybe involved in translation (By similarity). DNA-binding proteinspecific to 5'-phosphorylated single-stranded guanine-richsequence related to the immunoglobulin mu chain switch region.Preferentially binds to the 5'-GGGCT-3' motif. Interacts withtRNA-Tyr. Stimulates the transcription of the human neurotropicvirus JCV. {ECO:0000250, ECO:0000269|PubMed:19158098,ECO:0000269|PubMed:19299493}. | Regulates RHOA activity, and plays a role incytoskeleton remodeling. Necessary for normal completion ofcytokinesis. Plays a role in maintaining normal diacylglycerollevels in the Golgi apparatus. Binds phosphatidyl inositolphosphates (in vitro). May catalyze the transfer ofphosphatidylinositol and phosphatidylcholine between membranes (Bysimilarity). Necessary for maintaining the normal structure of theendoplasmic reticulum and the Golgi apparatus. Required forprotein export from the endoplasmic reticulum and the Golgi. Bindscalcium ions. {ECO:0000250, ECO:0000269|PubMed:10022914,ECO:0000269|PubMed:11909959, ECO:0000269|PubMed:15545272,ECO:0000269|PubMed:15723057}. |
| 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 |
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FusionGeneSequence for IGHMBP2_PITPNM1 |
| 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). |
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FusionGenePPI for IGHMBP2_PITPNM1 |
| 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 |
| IGHMBP2 | LSM8, NELFE, HNRNPU, SMC6, SASS6, TUBA8, NELFA, WDR89, NLE1, PRKRIR, WDR12, GRSF1, RPL5 | PITPNM1 | PTK2B, VAPB, TFCP2, CSNK2A2, FGD1, VAPA, 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 |
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RelatedDrugs for IGHMBP2_PITPNM1 |
| 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 |
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RelatedDiseases for IGHMBP2_PITPNM1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IGHMBP2 | C1858517 | SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 | 8 | CTD_human;ORPHANET;UNIPROT |
| Hgene | IGHMBP2 | C4015349 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S | 1 | ORPHANET;UNIPROT |
| Tgene | PITPNM1 | C0036341 | Schizophrenia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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