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Fusion gene ID: 34878 |
FusionGeneSummary for SMDT1_NFAM1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMDT1_NFAM1 | Fusion gene ID: 34878 | Hgene | Tgene | Gene symbol | SMDT1 | NFAM1 | Gene ID | 91689 | 150372 |
| Gene name | single-pass membrane protein with aspartate rich tail 1 | NFAT activating protein with ITAM motif 1 | |
| Synonyms | C22orf32|DDDD|EMRE | CNAIP | |
| Cytomap | 22q13.2 | 22q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | essential MCU regulator, mitochondrialUPF0466 protein C22orf32, mitochondrialsingle-pass membrane protein with aspartate-rich tail 1, mitochondrial | NFAT activation molecule 1calcineurin/NFAT-activating ITAM-containing protein | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9H4I9 | Q8NET5 | |
| Ensembl transtripts involved in fusion gene | ENST00000331479, | ENST00000329021, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 3=27 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SMDT1 [Title/Abstract] AND NFAM1 [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 | NFAM1 | GO:0007165 | signal transduction | 12615919 |
| Tgene | NFAM1 | GO:0035556 | intracellular signal transduction | 12615919 |
| Tgene | NFAM1 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 12615919 |
| 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 | LUAD | TCGA-44-6147-01A | SMDT1 | chr22 | 42475958 | + | NFAM1 | chr22 | 42783084 | - |
| * 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 | ENST00000331479 | ENST00000329021 | SMDT1 | chr22 | 42475958 | + | NFAM1 | chr22 | 42783084 | - |
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FusionProtFeatures for SMDT1_NFAM1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMDT1 | NFAM1 |
| Essential regulatory subunit of the mitochondrialcalcium uniporter complex (uniplex), a complex that mediatescalcium uptake into mitochondria (PubMed:24231807,PubMed:26774479, PubMed:27099988). Required to bridge the calcium-sensing proteins MICU1 and MICU2 with the calcium-conductingsubunit MCU (PubMed:24231807). Plays a central role in regulatingthe uniplex complex response to intracellular calcium signaling(PubMed:27099988). Acts by mediating activation of MCU andretention of MICU1 to the MCU pore, in order to ensure tightregulation of the uniplex complex and appropriate responses tointracellular calcium signaling (PubMed:27099988).{ECO:0000269|PubMed:24231807, ECO:0000269|PubMed:26774479,ECO:0000269|PubMed:27099988}. | May function in immune system as a receptor whichactivates via the calcineurin/NFAT-signaling pathway thedownstream cytokine gene promoters. Activates the transcription ofIL-13 and TNF-alpha promoters. May be involved in the regulationof B-cell, but not T-cell, development. Overexpression activatesdownstream effectors without ligand binding or antibody cross-linking. {ECO:0000269|PubMed:12615919,ECO:0000269|PubMed:15143214}. |
| 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 |
| Hgene | SMDT1 | chr22:42475958 | chr22:42783084 | ENST00000331479 | + | 1 | 3 | 53_64 | 62 | 410 | Topological domain | Mitochondrial matrix |
| - 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 | >SMDT1 | chr22:42475958 | chr22:42783084 | ENST00000331479 | + | 1 | 3 | 102_107 | 62 | 410 | Compositional bias | Poly-Asp |
| Hgene | >SMDT1 | chr22:42475958 | chr22:42783084 | ENST00000331479 | + | 1 | 3 | 81_85 | 62 | 410 | Motif | GXXXX[G/A/S] |
| Hgene | >SMDT1 | chr22:42475958 | chr22:42783084 | ENST00000331479 | + | 1 | 3 | 85_107 | 62 | 410 | Topological domain | Mitochondrial intermembrane |
| Hgene | >SMDT1 | chr22:42475958 | chr22:42783084 | ENST00000331479 | + | 1 | 3 | 65_84 | 62 | 410 | Transmembrane | Helical |
| Tgene | NFAM1 | chr22:42475958 | chr22:42783084 | ENST00000329021 | - | 3 | 6 | 209_237 | 221 | 271 | Domain | ITAM |
| Tgene | NFAM1 | chr22:42475958 | chr22:42783084 | ENST00000329021 | - | 3 | 6 | 50_150 | 221 | 271 | Domain | Note=Ig-like V-type |
| Tgene | NFAM1 | chr22:42475958 | chr22:42783084 | ENST00000329021 | - | 3 | 6 | 185_270 | 221 | 271 | Topological domain | Cytoplasmic |
| Tgene | NFAM1 | chr22:42475958 | chr22:42783084 | ENST00000329021 | - | 3 | 6 | 43_163 | 221 | 271 | Topological domain | Extracellular |
| Tgene | NFAM1 | chr22:42475958 | chr22:42783084 | ENST00000329021 | - | 3 | 6 | 164_184 | 221 | 271 | Transmembrane | Helical |
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FusionGeneSequence for SMDT1_NFAM1 |
| 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_SMDT1_ENST00000331479_chr22_42475958_+_NFAM1_ENST00000329021_chr22_42783084_-_112aa MASGAARWLVLAPVRSGALRSGPSLRKDGDVSAAWSGSGRSLVPSRSVIVTRSGAILPKPVKALQRRETEVYACIENEDGSSPTAKQSPL |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SMDT1_ENST00000331479_chr22_42475958_+_NFAM1_ENST00000329021_chr22_42783084_-_336nt ATGGCGTCCGGAGCGGCTCGCTGGCTAGTATTGGCACCCGTCAGGTCCGGGGCTCTCCGGAGCGGGCCTAGCTTGAGGAAAGATGGCGAT GTCTCCGCCGCATGGAGCGGCTCAGGCCGGAGCCTGGTACCGTCGAGGTCAGTCATCGTTACCCGCAGCGGCGCCATTTTGCCCAAACCG GTGAAAGCTCTGCAGCGCCGCGAGACCGAGGTCTATGCCTGCATCGAGAATGAGGATGGCAGCTCACCCACCGCCAAGCAGAGCCCCCTC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SMDT1_ENST00000331479_chr22_42475958_+_NFAM1_ENST00000329021_chr22_42783084_-_5161nt GCTTTCTTCCCGAGGGCGGCACGAGGGCTGGGCGGTGGGGTGCGGGTGCCCGGGTGAGGGGCGGAGCTGGGGGCATGGCGTCCGGAGCGG CTCGCTGGCTAGTATTGGCACCCGTCAGGTCCGGGGCTCTCCGGAGCGGGCCTAGCTTGAGGAAAGATGGCGATGTCTCCGCCGCATGGA GCGGCTCAGGCCGGAGCCTGGTACCGTCGAGGTCAGTCATCGTTACCCGCAGCGGCGCCATTTTGCCCAAACCGGTGAAAGCTCTGCAGC GCCGCGAGACCGAGGTCTATGCCTGCATCGAGAATGAGGATGGCAGCTCACCCACCGCCAAGCAGAGCCCCCTCTCCCAGGAGAGACCGC ATAGATTCGAAGATGATGGCGAACTTAACCTGGTCTATGAAAATCTCTAGGATGGGCTCCACCGCTCATAGAGCTTGCCCTGGGTCAGAG GACCGGGGCAGCCCCTGCCACCAAAGGACTTGATCTGAGTTGGGAGTAAGGCCCCCAGGGACACCCCATCATTTCACCCTCACATTCAAG GCCCTTCCTGTCTTGGCCGGCCCCACTGCCCCCCCATTCTATGCCCCAACCACCAAGGCTTTCCCATCTTGGGGCCTTTGCCCAGGCTGT TCCTTCTGCCAGGCAGGCCCTTCCTCCCTTGGCCCAACCAGCAAAGCGCCCCTCAGTCTTCAAGGGCTTTCCTGGATGCCACCCTTGCCC AGAGCCCTGCTCACTGCCTCATGCTGACAGAGCAGCATGCTCTCTTGGCACCAGCCTGCACCTCAGCCAGTAGGGCAGCCTCTGAGCTGA GGGAGGACCCTGCAGGGGCGCCTAGCAGTGCTGTGTGGGGAGCCGAGGTATGGAGGAGCTGGGGAGCAGCTATGCAAATCCCTACCTACC CAGCTGGGCCAGAGGCACGAGGCAGCCAGGCAGGGTGGGAGCAGGGGCTGGCGTGGGAGGTCTGGGGGACAGACAAGGATGATGGACCCC TCAGAGGCAAGACTAGGATCAGGGACAGATCTGGAGGCCCAGGACATGGCTGAGAGGTGGTCAGCAGGCTGGGGGCATGGAGCAGAGAGG GCTTGGGTACAAGCTGGAGAGGAAGGAGATTCTGGCATGTTGGGGTGAGGGCAGAGGGACAGATGAGGGGAGGAGGGTGCTGGCTAAACA GGAACTGAATGAATGGCCTGAAGCTCCCTCTCCCAAGGGTTCCCACTCCCATTGGCCTGGCCCTGTACGTGCACTCTGTCATCTCCTTGG TCACCCTCTGCTCCAGGCCTTCTCCACCACAGGACCTCAGCTGTCCCTCCTTCTACCCAAGGTGGAGTCCCCCAAAGTCCCTTCTGTCTG GCCTATCCTGTGCCCACCACCTGTGGCTTCATCCAGCCCTCCTCCTCTATCTTTATCTGCCATAGGCCGCAGCCCTGGCCCCCTGTGGAT TGAGGTCCCAAGTGGTCCAGCTGTGGGGTTTGGTGCTGGGACCCTCAATGGCAGCCGGAAGGTCCCTCTGAGGCAGAAGCTCAAGCCCCA TGGGGACAGTGGCTCCCCAGTGCCTGGCCCTGAGCCATTTCTGCTGTTTCAGGTGCCCACATCACCCTCATTTCCTCCTCGCAGTAGCCC TGCACCGTGGCCAGAAACCCATCCACAGGCAGGCAGTGGCTGGGGTCCGGGTGCCCCGGGCTGTTGGGCTCTGCTTCCTCCCTCTGCTCC CCCATGTCTCCCTGAGTTCTCCCACCTTTGCTCATTTGTAAAATGGGCAGGTCAATCTTCCCACCCCACCGTGTGGGCTGCCCCAACCCC AAATGTGCCCAGGGAGGGGGGGGAACCCAAGGCACAGGCCCCGCCCCTGCCCCCAAGCAGCACTGGGCTACTGGCTCACAGAAGCACCTT TGGTTCTGCAGGTCATGCCCCTCCCTGCAGGGAAGGGAAAGCTGGTGGTAGAGGCTGGGCACAGACTGACGTCCAGAAGAAGTCCCTTGG CCCTGCTAGGGTGGCACCAGACTTCTCTGGTCCCACAGGACAGCCAGTGGCCTCCCAACTTGGTTCTGGGCCCCCGCCTGCAAGCACACA TGGCAAGGAGGGCTTTAGCAGGCTCACATAACCGAGTGGCAAGGCCCCTGCTCCCAGAGGCTGGATTTGAATGAACTCCGGGCCTGTTTG GGGAGGTGAAGCTGCCAGGTGTGCACAGGGGCCTCCCAGGCTCCTGGCTCCACCAGCCAAGGAGGTGGGGGCAAGGGTCAGGGCAATGGG GGACAATGCCGCTCAGGGTGCAGTGAGCTCCCCTGGGAAAACCGAAGCCAGCAAGACCAGGAGAGGGCCACCTCACTGGGCCTGCCTCCC CCACCTCCTGGGCCTCTCTGACCTCAGCTCCTAGACCCTGGACCCTTGGCTGGGACTCAGCATTTTCCAGTCTTTTTCAGGGGTAGACAG GGGAGCCTGGGTTAAACTTTACCACTGTGCCCTGGCCCAGGCATCACCAACACGGCCTCCCTGCAGCTGCCCTGCCACCGACAGACCCCG ATTAAACCCACACCTGGCCTTGGCCTCCCCTGCTCTATACCTTGCATGGTTTTTGCCTCACTTGGAATAAAATTCCAACTCCTCCCTGTG GCGTAGGAGGTTCTTGGGGGCTGACCCATCACCCCTCTGGTGGACAGAGACATTGCCAGCGTGGTGGTCGTCTGTGCTTGGTTCAGGGCA AGGCTGGGAGGCAGTGGGTGCTGAGGTCTTCAGTGAGCAAGGAGAGAGGCAGGGAGGAGGAGGAGGAGGAGGAGAGCACAGCATGAAAGG ACGGGACCCTAAAGGGCTTTGGCCCAAGGGAGGGTGGGGCAAGAATGTTCTGAGACTTCTGTGGGCAGCAAAGAGGACTGAGCACCTGTT CTCCAGCCCCCAGGACTGAGAGCCTGCAGAGACAAGCTGGCACAGGGCGAGGGGTGGCAGGGAACTTCAGGGTGGGAGGTGCATGGGGCA GGCGGGAGGAGGAAGAACAGAGAGGGGACAGAGAGGGTATGAATGGGAGCTCCTGGGGTGCAGGCTTGCTTTCCACTATGAATGGGTGGA GGAGGGAAGAGAAGAAAATTGCTTTTGAGACCCACCCAGGCTGGGTGGCCTCAGGGCCTCCCTTGAATCCCTGCTCCACCTCCCACAGCC TTGTGGACTTGGGCAAGTCACTGGCCACCTGAGCCTCAGTTTGCAGTGACAGTCAAGACAGCTCAGGCCAGGCGTAGTGGCTTATGCCTG TAATCCCAGCATGTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCT CTACTAAAAATACAAAAATTAGCCTGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTCGAGAGGCTAAGGCAGGAGAATCTCTTGAAC CTGGGAGACAGAGGTTGCAGTGAGCCGAAGTGGCACCACTGCACACCAGCCTGGGCTACAGAGCACGCTCTGTCCAAATAAACAAACAAA CAAACACTACTCAGTGTCTCAGAAAGGACAGAAGGGGACTCCCTGGCTCAGGCAGAAGCTCAGTGGGTGTGCATTTCCTTCAAGACTCGT CCTTCAGAAGGAATAGGCTTCTGGGGCAGTACAGAGGAGTCTAAGTGAGAGGCAGGCCTCCCTGGGAGCTGGGCCCAGGCTCTCTGCAGC CATGCCTTTAAGGAGTGCCTACGGGGTAGCACGATCAGATGGACAGGCCAGGGCTGCCCAGAGCTGGGGGTGGGAGCAAGGTAAGCAGAG AGGTGAGGGAAGGAGGGTGCTGGCTTAGCAGGAGCTGAATGAATGGGCCTGGAGGGGAAAAGCTAAGGGGGATGGGGTGGCTTGAGTGGA GTAGGTGAGGCCTAGGTGAAGGGGAGCTGTGGACCTTCCAGGACGGACGGATGTGAGCAGTCCTGAGTGGGGACTGGAGTTAGGGTGGGG AAGGGAAGCCCCAGGCAGCCCCTGCAGGCCCCTGCCCCTGGGCCCTACCGCAGCAGGGCAGCCCTGTCTCTGGGTCTCAGCTGATGCTTC CCTCTGCCCACTGGCCCCTGACCTGGTGGGATTTCCCACCATCTCTCCCGGCCCAGCCTGCCCTGCCCTCCTAGGTCTTCCCAACCTCCC CTCTGCAGAAACATCTCAGCCACGTCTGGCACCCCCAGGCATCCCTGCCTGCCTCTAGGAAGTTGACCCCTTCAATGGGTTTCAGCCTCC AACCCCACCCCCGCTTGACTCCTGCTCTGTCAGCACTTGCTTGAGAAAATCATCCTGGGAAACCAGCTTCTGGGAGCAGGGGCCTTGCCA CTCGGTTCTGCGAGCCTGCTGAAGCCCTCCTTGCCACGTGTGCTTGCAGGCGGGGGCCCAGAACTAAGCTAGGAGGCCACTGGCTGTCCT GTGGGACCAGGGAAGTCTGGTGCCACCCTAGCAGAGGGCCCATGGACTTCTTCTGGAGGTCAGTCTGTGCCCAGCCTCTACCACCAGTCC AGAACTTGCAGTGGGTGCGGTAAACGGTGGCCCCTCCTCAGCAAACATTTCCAGGGGATTCTGGCAGCAGAGTTTCCATGGGAACATGTG CTGGTTCTGCGCTGAACCCGGTGTGGCTGGGGTTCCCTTCACAGCCAATATTGCAGGAACTGAGCCTGGTGGCCTCGGCCAGGGTAGGCA GTGCTCTTTGGCCACCCAGTGTCACAAACCTGAACTCAAGTTACAGGCAAAACCTGCTTTTCCTTTTTCTTTCTCTCTCTCTCTCTTTTT TTTTTTGTTAAAGCACATTCTAATGTAAAGTCCATGCTCCATTCTAAAGATGCCTCTGGGATTTCAGGGATGGATTTTTATGTAGTTCAA TAGTTTTCTTGGCAGACAGCTTATGCAGGAGAGGTGGGCCGTTGGCTCAGTCCAGCCAGGCTGAGTGGCGTCACTCCATTCCTTGCAATG CCAGGGGATGTCATTTGTCCACCTGAGGGGGCTTCCCCAGTCTCCCTTCCCTGACCTGTGGTCAGAATGATGGCCTCAGCCTTGACTGAG CGCGGGTCAGGCCAGACTCTCTGAACTTGGTGTTGGCGTGTGTTTTGTGTGTGTCTGGAGGTGACATATGTGGGTGACAGAAGCATATGT |
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FusionGenePPI for SMDT1_NFAM1 |
| 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 |
| SMDT1 | MOV10, EID3, GPR183, MYLK2, PDCD1, ASPH, EIF2B1, EIF2B2, EIF2B4, BZW2, MCU, EIF2B5, EIF2B3, MTOR | NFAM1 | HSPA14 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| Hgene | SMDT1 | chr22:42475958 | chr22:42783084 | ENST00000331479 | + | 1 | 3 | 1_52 | 62 | 410 | MAIP1 |
| - 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 SMDT1_NFAM1 |
| 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 SMDT1_NFAM1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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