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Fusion gene ID: 2034 |
FusionGeneSummary for AP1M1_PYCR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AP1M1_PYCR1 | Fusion gene ID: 2034 | Hgene | Tgene | Gene symbol | AP1M1 | PYCR1 | Gene ID | 8907 | 5831 |
| Gene name | adaptor related protein complex 1 subunit mu 1 | pyrroline-5-carboxylate reductase 1 | |
| Synonyms | AP47|CLAPM2|CLTNM|MU-1A | ARCL2B|ARCL3B|P5C|P5CR|PIG45|PP222|PRO3|PYCR | |
| Cytomap | 19p13.11 | 17q25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AP-1 complex subunit mu-1AP-mu chain family member mu1AHA1 47 kDa subunitadapter-related protein complex 1 subunit mu-1adaptor protein complex AP-1 mu-1 subunitadaptor protein complex AP-1 subunit mu-1adaptor related protein complex 1 mu 1 subunitc | pyrroline-5-carboxylate reductase 1, mitochondrialP5C reductase 1proliferation-inducing protein 45 | |
| Modification date | 20180519 | 20180520 | |
| UniProtAcc | Q9BXS5 | P32322 | |
| Ensembl transtripts involved in fusion gene | ENST00000291439, ENST00000541844, ENST00000590756, ENST00000429941, ENST00000444449, | ENST00000329875, ENST00000337943, ENST00000403172, ENST00000577756, ENST00000402252, | |
| Fusion gene scores | * DoF score | 4 X 1 X 3=12 | 2 X 2 X 2=8 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: AP1M1 [Title/Abstract] AND PYCR1 [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 |
| Tgene | PYCR1 | GO:0006561 | proline biosynthetic process | 16730026 |
| 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 | SARC | TCGA-DX-A6B9-01A | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| * 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-shift | ENST00000291439 | ENST00000329875 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000291439 | ENST00000337943 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000291439 | ENST00000403172 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000291439 | ENST00000577756 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000291439 | ENST00000402252 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000541844 | ENST00000329875 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000541844 | ENST00000337943 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000541844 | ENST00000403172 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000541844 | ENST00000577756 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000541844 | ENST00000402252 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000590756 | ENST00000329875 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000590756 | ENST00000337943 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000590756 | ENST00000403172 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000590756 | ENST00000577756 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000590756 | ENST00000402252 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000429941 | ENST00000329875 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000429941 | ENST00000337943 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000429941 | ENST00000403172 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000429941 | ENST00000577756 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000429941 | ENST00000402252 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000444449 | ENST00000329875 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000444449 | ENST00000337943 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000444449 | ENST00000403172 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000444449 | ENST00000577756 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
| Frame-shift | ENST00000444449 | ENST00000402252 | AP1M1 | chr19 | 16319988 | + | PYCR1 | chr17 | 79894069 | - |
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FusionProtFeatures for AP1M1_PYCR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AP1M1 | PYCR1 |
| Subunit of clathrin-associated adaptor protein complex 1that plays a role in protein sorting in the trans-Golgi network(TGN) and endosomes. The AP complexes mediate the recruitment ofclathrin to membranes and the recognition of sorting signalswithin the cytosolic tails of transmembrane cargo molecules. | Housekeeping enzyme that catalyzes the last step inproline biosynthesis. Can utilize both NAD and NADP, but hashigher affinity for NAD. Involved in the cellular response tooxidative stress. {ECO:0000269|PubMed:16730026,ECO:0000269|PubMed:19648921}. |
| 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 AP1M1_PYCR1 |
| 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 AP1M1_PYCR1 |
| 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 |
| AP1M1 | VAMP4, TIFA, FXR2, AP2B1, MTF1, RUNDC3A, DVL2, HNRNPC, LDOC1, ZBTB8A, AP1G1, SELP, KIF13A, AP1B1, TGOLN2, AP1S2, AP1S1, ALB, EGFR, HEXIM1, DCP2, GPRASP2, PHC2, ETV6, ZBTB14, DZIP3, TNIP1, IKZF1, SDCCAG3, ZBTB43, ZBTB44, HOOK2, LZTS2, PNMA5, SSX2IP, KRT40, FAM9B, CEP57L1, KRTAP10-7, KRTAP10-3, CORO7, BRCA1, MPZL2, NECAP2, SPACA1, CA14, DCPS, PRKAB1, RNASEH2A, RNASEH2B, UBA1, NTRK1, SRPK2, XPO1, NCBP1, GTSE1, SLC2A4, FBXO4, RNF19B, CPD, TLR2, DLD, UBE2A | PYCR1 | NUDT21, CDK2AP2, CUL3, MDC1, DAB2, ITGA4, BAG3, BNIPL, HNRNPD, FUS, SUZ12, RNF2, BMI1, NUDT5, PYCR2, KLHDC10, PYCRL, CCDC47, NTRK1, CEP162, LCA5, HNRNPH2, DAP3, CDC16, ARMC6, DUSP14, PDHA1, SOAT1, G3BP1 |
| - 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 AP1M1_PYCR1 |
| 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 AP1M1_PYCR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PYCR1 | C2751987 | Cutis Laxa, Autosomal Recessive, Type IIB | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | PYCR1 | C3280799 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | 2 | ORPHANET;UNIPROT |
| Tgene | PYCR1 | C0010495 | Cutis Laxa | 1 | CTD_human;HPO |
| Tgene | PYCR1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | PYCR1 | C0033300 | Progeria | 1 | CTD_human |
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