|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 37864 |
FusionGeneSummary for TFRC_BLOC1S5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TFRC_BLOC1S5 | Fusion gene ID: 37864 | Hgene | Tgene | Gene symbol | TFRC | BLOC1S5 | Gene ID | 7037 | 63915 |
| Gene name | transferrin receptor | biogenesis of lysosomal organelles complex 1 subunit 5 | |
| Synonyms | CD71|IMD46|T9|TFR|TFR1|TR|TRFR|p90 | BLOS5|MU|MUTED | |
| Cytomap | 3q29 | 6p24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transferrin receptor protein 1 | biogenesis of lysosome-related organelles complex 1 subunit 5BLOC-1 subunit 5biogenesis of lysosomal organelles complex-1, subunit 5, mutedmuted homologprotein Muted homolog | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P02786 | Q8TDH9 | |
| Ensembl transtripts involved in fusion gene | ENST00000420415, ENST00000360110, ENST00000540528, ENST00000392396, ENST00000535031, ENST00000465288, | ENST00000397457, ENST00000543936, ENST00000475998, | |
| Fusion gene scores | * DoF score | 8 X 7 X 6=336 | 3 X 2 X 3=18 |
| # samples | 9 | 3 | |
| ** MAII score | log2(9/336*10)=-1.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TFRC [Title/Abstract] AND BLOC1S5 [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 | TFRC | GO:0030890 | positive regulation of B cell proliferation | 26642240 |
| Hgene | TFRC | GO:0031623 | receptor internalization | 26642240 |
| Hgene | TFRC | GO:0033572 | transferrin transport | 26642240 |
| Hgene | TFRC | GO:0035690 | cellular response to drug | 16254249 |
| Hgene | TFRC | GO:0042102 | positive regulation of T cell proliferation | 26642240 |
| Hgene | TFRC | GO:0045830 | positive regulation of isotype switching | 26642240 |
| Hgene | TFRC | GO:0097286 | iron ion import | 7556058 |
| Tgene | BLOC1S5 | GO:0032402 | melanosome transport | 17182842 |
| Tgene | BLOC1S5 | GO:0035646 | endosome to melanosome transport | 17182842 |
| Tgene | BLOC1S5 | GO:0050942 | positive regulation of pigment cell differentiation | 17182842 |
| 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 | PRAD | TCGA-G9-A9S7-01A | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| * 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 |
| 5UTR-3CDS | ENST00000420415 | ENST00000397457 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| 5UTR-3CDS | ENST00000420415 | ENST00000543936 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| 5UTR-intron | ENST00000420415 | ENST00000475998 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| In-frame | ENST00000360110 | ENST00000397457 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| In-frame | ENST00000360110 | ENST00000543936 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| 5CDS-intron | ENST00000360110 | ENST00000475998 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| In-frame | ENST00000540528 | ENST00000397457 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| In-frame | ENST00000540528 | ENST00000543936 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| 5CDS-intron | ENST00000540528 | ENST00000475998 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| Frame-shift | ENST00000392396 | ENST00000397457 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| Frame-shift | ENST00000392396 | ENST00000543936 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| 5CDS-intron | ENST00000392396 | ENST00000475998 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| 5UTR-3CDS | ENST00000535031 | ENST00000397457 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| 5UTR-3CDS | ENST00000535031 | ENST00000543936 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| 5UTR-intron | ENST00000535031 | ENST00000475998 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| intron-3CDS | ENST00000465288 | ENST00000397457 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| intron-3CDS | ENST00000465288 | ENST00000543936 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
| intron-intron | ENST00000465288 | ENST00000475998 | TFRC | chr3 | 195803935 | - | BLOC1S5 | chr6 | 8041501 | - |
Top |
FusionProtFeatures for TFRC_BLOC1S5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TFRC | BLOC1S5 |
| Cellular uptake of iron occurs via receptor-mediatedendocytosis of ligand-occupied transferrin receptor intospecialized endosomes. Endosomal acidification leads to ironrelease. The apotransferrin-receptor complex is then recycled tothe cell surface with a return to neutral pH and the concomitantloss of affinity of apotransferrin for its receptor. Transferrinreceptor is necessary for development of erythrocytes and thenervous system (By similarity). A second ligand, the heditaryhemochromatosis protein HFE, competes for binding with transferrinfor an overlapping C-terminal binding site. Positively regulates Tand B cell proliferation through iron uptake (PubMed:26642240).{ECO:0000250, ECO:0000269|PubMed:26642240,ECO:0000269|PubMed:3568132}. (Microbial infection) Acts as a receptor for new-worldarenaviruses: Guanarito, Junin and Machupo virus.{ECO:0000269|PubMed:17287727, ECO:0000269|PubMed:18268337}. | Component of the BLOC-1 complex, a complex that isrequired for normal biogenesis of lysosome-related organelles(LRO), such as platelet dense granules and melanosomes. In concertwith the AP-3 complex, the BLOC-1 complex is required to targetmembrane protein cargos into vesicles assembled at cell bodies fordelivery into neurites and nerve terminals. The BLOC-1 complex, inassociation with SNARE proteins, is also proposed to be involvedin neurite extension. Plays a role in intracellular vesicletrafficking. {ECO:0000269|PubMed:17182842}. |
| 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 TFRC_BLOC1S5 |
| 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_TFRC_ENST00000360110_chr3_195803935_-_BLOC1S5_ENST00000397457_chr6_8041501_-_135aa MMDQARSAFSNLEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHML >In-frame_TFRC_ENST00000360110_chr3_195803935_-_BLOC1S5_ENST00000543936_chr6_8041501_-_135aa MMDQARSAFSNLEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHML >In-frame_TFRC_ENST00000540528_chr3_195803935_-_BLOC1S5_ENST00000397457_chr6_8041501_-_134aa MDQARSAFSNLEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHMLQ >In-frame_TFRC_ENST00000540528_chr3_195803935_-_BLOC1S5_ENST00000543936_chr6_8041501_-_134aa MDQARSAFSNLEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHMLQ |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TFRC_ENST00000360110_chr3_195803935_-_BLOC1S5_ENST00000397457_chr6_8041501_-_405nt ATGATGGATCAAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATC CATGAAACAAATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAAT GACTCAGTCTGTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTC CAGTGGGACAACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAA >In-frame_TFRC_ENST00000360110_chr3_195803935_-_BLOC1S5_ENST00000543936_chr6_8041501_-_405nt ATGATGGATCAAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATC CATGAAACAAATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAAT GACTCAGTCTGTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTC CAGTGGGACAACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAA >In-frame_TFRC_ENST00000540528_chr3_195803935_-_BLOC1S5_ENST00000397457_chr6_8041501_-_402nt ATGGATCAAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCAT GAAACAAATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGAC TCAGTCTGTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAG TGGGACAACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATAT >In-frame_TFRC_ENST00000540528_chr3_195803935_-_BLOC1S5_ENST00000543936_chr6_8041501_-_402nt ATGGATCAAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCAT GAAACAAATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGAC TCAGTCTGTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAG TGGGACAACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATAT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TFRC_ENST00000360110_chr3_195803935_-_BLOC1S5_ENST00000397457_chr6_8041501_-_2657nt CTCGCGAGCGTACGTGCCTCAGGAAGTGACGCACAGCCCCCCTGGGGGCCGGGGGCGGGGCCAGGCTATAAACCGCCGGTTAGGGGCCGC CATCCCCTCAGAGCGTCGGGATATCGGGTGGCGGCTCGGGACGGAGGACGCGCTAGTGTTCTTCTGTGTGGCAGTTCAGAATGATGGATC AAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCATGAAACAA ATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGACTCAGTCT GTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAGTGGGACA ACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATATGCTGAGA TGGAGAAGGACCTAGCGAAATTTTCAACCTTTTAAGAACTTGAACCACAACAATCACAAACTAATGAGAAGATGTTCACCTCTCTCCTGA AAACTATTCCCACCAGACCGTTTAGCCTCTGCTTCAAGCTTAGCAATATATTCAGTGGCACTCTTATATCAGAAGAAAGAAGTTTCTACT GGCATTCTGATTGGATATTTAAAGAAGGGTGCCACATTTTTCCAGCTTTAAGTGCCTATATATGATTATTTGAATGAAGAGGAGTAGGAA GGAAAATGGAATCAATATACTCTTTGTTAGTCAGAATTGATCATCTTTTCCATTGATTAGCTCAGAGAACTGTAGGTATAGACTTCTTAG AAAGATAATTTCATTCATTTCTATACAGGGTTAACAATAGTTTATTATTGTGGCTTAATGGGAAGGTATAGAAGCTACCTGTCATAGCCT CCTTGGCTGTTGGAAGGATGTATAAAGTGTTACTGCATGAGTAATGTAGACAAAAAAAAAAGCCAGCTGTCCTTGGAGCAGAGATCACAT TTCAGAGAGGTGAGAGTGAACACATTGTCTCTGCTGTGGCAAAGATGGCCACGCTGGTGTTTGAGCTGCCTCTTGGGAAGCGTTGCATAT TTTACAGTGCAGCATAATGCCATGGGCTTCCGTGGATGGGAAGACACATGTTAAGTTTTGTGGCCTTCCAGCACTTACTATTTTCAGCTT TTTAAAGCATGCTTAGAAGGAAAAGCTTACCAAAAATATATTTTGACATTTAGTTTTTCCAAGAGCTATAATCTTGCCCATAGTATTTAC CTCATTTTTGTGTCTGTTTTGCTGTGGGTAAGCTTTATAAGATAAATAATGTCTATACATGTTTCGACTGTTTAATGAGTAATCAACAAA ATCTGCCAGAGAGTCCCTCTGGAACCATATAAAGTTCCTGGCTTTGAATGAACCAGAAGTGTTTGCCCACACAGCAAATGGTCCATGTTA AATGTAAATCCTTTTTAGTGTTAATGTCTGTTCTCATAAGCAGGTATATTATGATGAAACATGTACCAGTTCTGTCATCACTGTGATCTT TAAAAACCTGCATTTAACAGTCTAATTTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGCGGA TCATTTGAAGTCAGGAGTTCAAGCCTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGCATGTTGG TGCACGCTTGTAATCCCAGCTACTCAGGAGTCTGAGGCACGAGAATCACCTGAACTCAGGAGGCGGAGGTTGCGGTGAGCTGAGATGGCA CCACTGCACTCCAGCTTGGGTGACAGAGTGAGACTCCATCTCAACAAAAAAAAAATCTAACTGAAGAACTAAGTTGATTTTTTATTTGCC ATAAACCAAGCAAAAGTAAATGCAATAATTTCGAGATTTATGGTAAACAAATTTGAGGTATGGATAAATCTTTCACATATTTTTTATTGC TCTTTAGTAAAGAAAGGCACAAGAAAGAAAATATCCAGCTCTCTTGTGTTATCTCAGTGTGGCGACTGCAGAAAATTGACAATGCCTGCC TGTGTAAATGTATGGCTTACTGTCAAAGCTTCATTCTTGGCTGCATGTTGAAAATGTGATTAAAGTTAATAGAGGAGATGAAATAAGTAT TTGAGATTTTTTTCAATAACACTGAACTTCTGCCAACTTTCTCTATCCGCTACTGTAGGCTTGACAGGCTCATCAATCATTTGCTGGTAC CTGGACTAAAAAGCGCACTTGCTGACACCAAGGCATGTTGGAATTTTCTTAATTCAGTGGATGGAAAAAGAAATACTTCCAAAAATATCC CACACATGAAAAGGGAGGGGAGCCTTAAATGAAAATTCCCTTTGTACCGTAGACACTTTTTGGAATGCGATTAATTGCCAACACATCATT GAACGAATGCTGTAACCAAGAAATTAAGATTGTGTGTGTGAAGGGAATATATTCTTAACTGTGGCTACCCAACTTGTATAGCAAAGATTT >In-frame_TFRC_ENST00000360110_chr3_195803935_-_BLOC1S5_ENST00000543936_chr6_8041501_-_1161nt CTCGCGAGCGTACGTGCCTCAGGAAGTGACGCACAGCCCCCCTGGGGGCCGGGGGCGGGGCCAGGCTATAAACCGCCGGTTAGGGGCCGC CATCCCCTCAGAGCGTCGGGATATCGGGTGGCGGCTCGGGACGGAGGACGCGCTAGTGTTCTTCTGTGTGGCAGTTCAGAATGATGGATC AAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCATGAAACAA ATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGACTCAGTCT GTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAGTGGGACA ACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATATGCTGAGA TGGAGAAGGACCTAGCGAAATTTTCAACCTTTTAAGAACTTGAACCACAACAATCACAAACTAATGAGAAGATGTTCACCTCTCTCCTGA AAACTATTCCCACCAGACCGTTTAGCCTCTGCTTCAAGCTTAGCAATATATTCAGTGGCACTCTTATATCAGAAGAAAGAAGTTTCTACT GGCATTCTGATTGGATATTTAAAGAAGGGTGCCACATTTTTCCAGCTTTAAGTGCCTATATATGATTATTTGAATGAAGAGGAGTAGGAA GGAAAATGGAATCAATATACTCTTTGTTAGTCAGAATTGATCATCTTTTCCATTGATTAGCTCAGAGAACTGTAGGTATAGACTTCTTAG AAAGATAATTTCATTCATTTCTATACAGGGTTAACAATAGTTTATTATTGTGGCTTAATGGGAAGGTATAGAAGCTACCTGTCATAGCCT CCTTGGCTGTTGGAAGGATGTATAAAGTGTTACTGCATGAGTAATGTAGACAAAAAAAAAAGCCAGCTGTCCTTGGAGCAGAGATCACAT >In-frame_TFRC_ENST00000540528_chr3_195803935_-_BLOC1S5_ENST00000397457_chr6_8041501_-_2558nt AGAGCGTCGGGATATCGGGTGGCGGCTCGGGACGGAGGACGCGCTAGTGTTCTTCTGTGTGGCAGTTCAGAATGATGGATCAAGCTAGAT CAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCATGAAACAAATGAACATA CTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGACTCAGTCTGTAGACTCC AACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAGTGGGACAACTTCATGA AGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATATGCTGAGATGGAGAAGG ACCTAGCGAAATTTTCAACCTTTTAAGAACTTGAACCACAACAATCACAAACTAATGAGAAGATGTTCACCTCTCTCCTGAAAACTATTC CCACCAGACCGTTTAGCCTCTGCTTCAAGCTTAGCAATATATTCAGTGGCACTCTTATATCAGAAGAAAGAAGTTTCTACTGGCATTCTG ATTGGATATTTAAAGAAGGGTGCCACATTTTTCCAGCTTTAAGTGCCTATATATGATTATTTGAATGAAGAGGAGTAGGAAGGAAAATGG AATCAATATACTCTTTGTTAGTCAGAATTGATCATCTTTTCCATTGATTAGCTCAGAGAACTGTAGGTATAGACTTCTTAGAAAGATAAT TTCATTCATTTCTATACAGGGTTAACAATAGTTTATTATTGTGGCTTAATGGGAAGGTATAGAAGCTACCTGTCATAGCCTCCTTGGCTG TTGGAAGGATGTATAAAGTGTTACTGCATGAGTAATGTAGACAAAAAAAAAAGCCAGCTGTCCTTGGAGCAGAGATCACATTTCAGAGAG GTGAGAGTGAACACATTGTCTCTGCTGTGGCAAAGATGGCCACGCTGGTGTTTGAGCTGCCTCTTGGGAAGCGTTGCATATTTTACAGTG CAGCATAATGCCATGGGCTTCCGTGGATGGGAAGACACATGTTAAGTTTTGTGGCCTTCCAGCACTTACTATTTTCAGCTTTTTAAAGCA TGCTTAGAAGGAAAAGCTTACCAAAAATATATTTTGACATTTAGTTTTTCCAAGAGCTATAATCTTGCCCATAGTATTTACCTCATTTTT GTGTCTGTTTTGCTGTGGGTAAGCTTTATAAGATAAATAATGTCTATACATGTTTCGACTGTTTAATGAGTAATCAACAAAATCTGCCAG AGAGTCCCTCTGGAACCATATAAAGTTCCTGGCTTTGAATGAACCAGAAGTGTTTGCCCACACAGCAAATGGTCCATGTTAAATGTAAAT CCTTTTTAGTGTTAATGTCTGTTCTCATAAGCAGGTATATTATGATGAAACATGTACCAGTTCTGTCATCACTGTGATCTTTAAAAACCT GCATTTAACAGTCTAATTTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGCGGATCATTTGAA GTCAGGAGTTCAAGCCTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGCATGTTGGTGCACGCTT GTAATCCCAGCTACTCAGGAGTCTGAGGCACGAGAATCACCTGAACTCAGGAGGCGGAGGTTGCGGTGAGCTGAGATGGCACCACTGCAC TCCAGCTTGGGTGACAGAGTGAGACTCCATCTCAACAAAAAAAAAATCTAACTGAAGAACTAAGTTGATTTTTTATTTGCCATAAACCAA GCAAAAGTAAATGCAATAATTTCGAGATTTATGGTAAACAAATTTGAGGTATGGATAAATCTTTCACATATTTTTTATTGCTCTTTAGTA AAGAAAGGCACAAGAAAGAAAATATCCAGCTCTCTTGTGTTATCTCAGTGTGGCGACTGCAGAAAATTGACAATGCCTGCCTGTGTAAAT GTATGGCTTACTGTCAAAGCTTCATTCTTGGCTGCATGTTGAAAATGTGATTAAAGTTAATAGAGGAGATGAAATAAGTATTTGAGATTT TTTTCAATAACACTGAACTTCTGCCAACTTTCTCTATCCGCTACTGTAGGCTTGACAGGCTCATCAATCATTTGCTGGTACCTGGACTAA AAAGCGCACTTGCTGACACCAAGGCATGTTGGAATTTTCTTAATTCAGTGGATGGAAAAAGAAATACTTCCAAAAATATCCCACACATGA AAAGGGAGGGGAGCCTTAAATGAAAATTCCCTTTGTACCGTAGACACTTTTTGGAATGCGATTAATTGCCAACACATCATTGAACGAATG CTGTAACCAAGAAATTAAGATTGTGTGTGTGAAGGGAATATATTCTTAACTGTGGCTACCCAACTTGTATAGCAAAGATTTCTGATAGTT >In-frame_TFRC_ENST00000540528_chr3_195803935_-_BLOC1S5_ENST00000543936_chr6_8041501_-_1062nt AGAGCGTCGGGATATCGGGTGGCGGCTCGGGACGGAGGACGCGCTAGTGTTCTTCTGTGTGGCAGTTCAGAATGATGGATCAAGCTAGAT CAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCATGAAACAAATGAACATA CTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGACTCAGTCTGTAGACTCC AACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAGTGGGACAACTTCATGA AGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATATGCTGAGATGGAGAAGG ACCTAGCGAAATTTTCAACCTTTTAAGAACTTGAACCACAACAATCACAAACTAATGAGAAGATGTTCACCTCTCTCCTGAAAACTATTC CCACCAGACCGTTTAGCCTCTGCTTCAAGCTTAGCAATATATTCAGTGGCACTCTTATATCAGAAGAAAGAAGTTTCTACTGGCATTCTG ATTGGATATTTAAAGAAGGGTGCCACATTTTTCCAGCTTTAAGTGCCTATATATGATTATTTGAATGAAGAGGAGTAGGAAGGAAAATGG AATCAATATACTCTTTGTTAGTCAGAATTGATCATCTTTTCCATTGATTAGCTCAGAGAACTGTAGGTATAGACTTCTTAGAAAGATAAT TTCATTCATTTCTATACAGGGTTAACAATAGTTTATTATTGTGGCTTAATGGGAAGGTATAGAAGCTACCTGTCATAGCCTCCTTGGCTG TTGGAAGGATGTATAAAGTGTTACTGCATGAGTAATGTAGACAAAAAAAAAAGCCAGCTGTCCTTGGAGCAGAGATCACATTTCAGAGAG |
Top |
FusionGenePPI for TFRC_BLOC1S5 |
| 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 |
| TFRC | HFE, GABARAP, TFRC, TF, SVIP, PXK, RYK, BST2, HDAC5, LAPTM4A, LAPTM4B, OPTN, RAB8A, HGS, PARK2, SH3BP4, KCNA3, KCNA5, FBXO6, ATP6V1B1, ESR1, B4GALT1, FN1, VCAM1, ATF2, ITGA4, MYO1G, MARCH1, MARCH8, CLN3, ADRB2, RPA1, RPA2, RPA3, ASB4, LGR4, RANBP9, TP53, HUWE1, CAV1, SGTA, MDM2, CUL7, RNF2, EGFR, ZFP36, DLK1, NTRK1, TCTN3, RPGRIP1L, POC5, TMEM17, TMEM216, AHSA1, ERBB2, GJB2, PDGFRA, RAB5C, RAB7A, ATP6AP2, GOLT1B, ARFGAP1, AP2B1, SENP3, ESRRB, CDC73, COX15, PDHA1, TRIM25, LMNA, BRCA1, TES | BLOC1S5 | BLOC1S6, DTNBP1, BLOC1S2, BLOC1S3, YOD1, SQSTM1, DCUN1D1, APP, HUWE1, TSNAX, TEX35, C17orf59, BCAS4, XPO1, TRIM69 |
| - 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 TFRC_BLOC1S5 |
| 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 | TFRC | P02786 | DB01592 | Iron | Transferrin receptor protein 1 | small molecule | approved |
Top |
RelatedDiseases for TFRC_BLOC1S5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TFRC | C0162316 | Iron deficiency anemia | 3 | CTD_human |
| Hgene | TFRC | C0012715 | Iron Metabolism Disorders | 2 | CTD_human |
| Hgene | TFRC | C0028754 | Obesity | 2 | CTD_human |
| Hgene | TFRC | C0079487 | Helicobacter Infections | 2 | CTD_human |
| Hgene | TFRC | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Hgene | TFRC | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | TFRC | C0003756 | Arenaviridae Infections | 1 | CTD_human |
| Hgene | TFRC | C0005283 | beta Thalassemia | 1 | CTD_human |
| Hgene | TFRC | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | TFRC | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | TFRC | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | TFRC | C0017638 | Glioma | 1 | CTD_human |
| Hgene | TFRC | C0021368 | Inflammation | 1 | CTD_human |
| Hgene | TFRC | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |
| Hgene | TFRC | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | TFRC | C0024305 | Lymphoma, Non-Hodgkin | 1 | CTD_human |
| Hgene | TFRC | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| Hgene | TFRC | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Hgene | TFRC | C0085110 | Severe Combined Immunodeficiency | 1 | CTD_human |
| Hgene | TFRC | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | TFRC | C4225219 | IMMUNODEFICIENCY 46 | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|