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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:TMEM194B-AASDHPPT (FusionGDB2 ID:HG100131211TG60496) |
Fusion Gene Summary for TMEM194B-AASDHPPT |
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Fusion gene information | Fusion gene name: TMEM194B-AASDHPPT | Fusion gene ID: hg100131211tg60496 | Hgene | Tgene | Gene symbol | TMEM194B | AASDHPPT | Gene ID | 100131211 | 60496 |
Gene name | nuclear envelope integral membrane protein 2 | aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase | |
Synonyms | TMEM194B | AASD-PPT|ACPS|CGI-80|LYS2|LYS5 | |
Cytomap | ('TMEM194B')('AASDHPPT') 2q32.2 | 11q22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | nuclear envelope integral membrane protein 2UPF0571 transmembrane proteintransmembrane protein 194B | L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase4'-phosphopantetheinyl transferaseLYS5 orthologalpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferaseholo ACP synthaseholo-[acyl-carrier-protein] synthase | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000409150, ENST00000492292, | ||
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 2=18 |
# samples | 1 | 3 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TMEM194B [Title/Abstract] AND AASDHPPT [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | TMEM194B(191389989)-AASDHPPT(105950194), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | TMEM194B-AASDHPPT seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. TMEM194B-AASDHPPT seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | Non-Cancer | ERR315469 | TMEM194B | chr2 | 191389989 | - | AASDHPPT | chr11 | 105950194 | + |
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Fusion Gene ORF analysis for TMEM194B-AASDHPPT |
![]() * 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 | ENST00000409150 | ENST00000278618 | TMEM194B | chr2 | 191389989 | - | AASDHPPT | chr11 | 105950194 | + |
intron-3CDS | ENST00000492292 | ENST00000278618 | TMEM194B | chr2 | 191389989 | - | AASDHPPT | chr11 | 105950194 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000409150 | TMEM194B | chr2 | 191389989 | - | ENST00000278618 | AASDHPPT | chr11 | 105950194 | + | 2830 | 280 | 52 | 1026 | 324 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000409150 | ENST00000278618 | TMEM194B | chr2 | 191389989 | - | AASDHPPT | chr11 | 105950194 | + | 8.32E-05 | 0.9999168 |
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Fusion Genomic Features for TMEM194B-AASDHPPT |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
TMEM194B | chr2 | 191389988 | - | AASDHPPT | chr11 | 105950193 | + | 0.29821822 | 0.70178175 |
TMEM194B | chr2 | 191389988 | - | AASDHPPT | chr11 | 105950193 | + | 0.29821822 | 0.70178175 |
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Fusion Protein Features for TMEM194B-AASDHPPT |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:191389989/chr11:105950194) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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 |
Tgene | AASDHPPT | chr2:191389989 | chr11:105950194 | ENST00000278618 | 0 | 6 | 108_111 | 61 | 310.0 | Region | Coenzyme A binding | |
Tgene | AASDHPPT | chr2:191389989 | chr11:105950194 | ENST00000278618 | 0 | 6 | 181_185 | 61 | 310.0 | Region | Coenzyme A binding | |
Tgene | AASDHPPT | chr2:191389989 | chr11:105950194 | ENST00000278618 | 0 | 6 | 86_91 | 61 | 310.0 | Region | Coenzyme A binding |
- 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 | TMEM194B | chr2:191389989 | chr11:105950194 | ENST00000409150 | - | 2 | 9 | 148_168 | 71 | 418.0 | Transmembrane | Helical |
Hgene | TMEM194B | chr2:191389989 | chr11:105950194 | ENST00000409150 | - | 2 | 9 | 177_197 | 71 | 418.0 | Transmembrane | Helical |
Hgene | TMEM194B | chr2:191389989 | chr11:105950194 | ENST00000409150 | - | 2 | 9 | 207_227 | 71 | 418.0 | Transmembrane | Helical |
Hgene | TMEM194B | chr2:191389989 | chr11:105950194 | ENST00000409150 | - | 2 | 9 | 239_259 | 71 | 418.0 | Transmembrane | Helical |
Hgene | TMEM194B | chr2:191389989 | chr11:105950194 | ENST00000409150 | - | 2 | 9 | 280_300 | 71 | 418.0 | Transmembrane | Helical |
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Fusion Gene Sequence for TMEM194B-AASDHPPT |
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>91868_91868_1_TMEM194B-AASDHPPT_TMEM194B_chr2_191389989_ENST00000409150_AASDHPPT_chr11_105950194_ENST00000278618_length(transcript)=2830nt_BP=280nt ACTTCCGCTCCTCGCAGCGGAGCCGGTCCCCTAGGGCTCGGGTCGCACGGAGCTGACCCCTAACGAAATGGGGCCGCGCCAAGGGCGGTG GTGGCTGCTGCTCTGGCTGCCGCCCCTGGCCACACTGCCCGTGCGCGGGGAGGCGGCGGCGGCAGCGTTATCAGTTCGTAGGTGTAAAGC TTTGAAGGAAAAAGATTTAATTAGAACGTCTGAGTCAGACTGTTACTGCTACAATCAAAATTCCCAAGTGGAGTGGAAATACATATGGTC AACTATGCAGGCTGGTCGTCTGATGATAAGGAAATTAGTTGCAGAGAAATTGAATATCCCTTGGAATCATATTCGTTTGCAAAGAACTGC AAAAGGAAAACCAGTTCTTGCAAAGGACTCATCGAATCCTTACCCGAATTTCAACTTTAACATCTCTCATCAAGGAGACTATGCAGTGCT TGCTGCTGAACCTGAGCTGCAAGTTGGAATTGATATAATGAAGACTAGTTTTCCAGGTCGTGGTTCAATTCCAGAATTCTTTCATATTAT GAAAAGAAAGTTTACCAACAAAGAATGGGAAACAATCAGAAGCTTTAAGGATGAGTGGACTCAGCTGGATATGTTTTATAGGAATTGGGC ACTTAAGGAAAGCTTCATAAAAGCCATTGGTGTTGGACTAGGATTTGAATTGCAGCGGCTTGAATTTGATCTATCTCCATTAAACTTGGA TATAGGCCAAGTTTATAAAGAAACACGTTTATTCCTGGATGGAGAGGAAGAAAAAGAATGGGCATTTGAGGAAAGCAAAATAGATGAGCA CCATTTTGTTGCAGTTGCTCTTAGGAAACCCGATGGATCTAGACATCAGGATGTTCCATCTCAGGATGATTCCAAACCAACCCAGAGGCA ATTTACTATTCTCAACTTTAATGATTTAATGTCATCTGCCGTTCCCATGACACCTGAAGATCCTTCATTTTGGGACTGTTTTTGCTTCAC AGAAGAAATTCCAATACGAAATGGTACAAAGTCATGATGATTCCCTGAGTAACAAAGGGAAATGAAAACTGTTTGTGATCTTCCGTATTC ACTGAAAAATAAATGCTTGTTTAGTATCAAATTTTATTTCACGAAAGTTTTTTTAAAGAACAGAAACTTTTCCAATTAAAAAAAAAAAGC AGACTTCTGGTTCAAGATAGCTCACTGGAATACATGTTTACCTCTTTCTTTCCTAAATTGCATTGAATTGATAGGAAGGATGGCGGAATC TTAAAGTGATACATGCTAACTGTAGAAAAAAATAGAAAATGCACATAAGCAAAAGGAAACATTTAAATGCTATCTTTCAAAGATAACTAC TCTTAAAACCTTGAGTATCTTTTCAGACCTTTTTCTTGGCAAATGAATCCATATTGACATATTTGATTTTTTTAAAAACATGGAAACGTA CTGTTTTGTAAATTCTTTTTAACTGCACATCTACTGTTCATAAATATACCTCTGTAACATAACTTTTTGTGGTTCTAATGTACTCTGTTG TATAGCTAATACAAGTTAGGATGCTTTTGGCCAGAGGTAACAGTGTCCAAATATAATTGGCCTAAGTAACCTAGGAAATTGTTTGACATA ACACAGGGTTCAGGGGTGTCATTAAAGACACACTTTTTTTGCCTTGACCTCAGTTGGTTTGTTTTGCCTTAGGCTATTCCACCTCTCGAT CACAAGAGCTGCTGCTATAACTTCCAGTTTTACATCTTTGTAAAATTGTATCTCAAAGGCAGAAAAGGCCATTTCGTCTCTCATTTGTTT TATCCATGAGGAAGATTTTTAACAAAAGCCTCCAGAAGATTTCCCCTCAGTTTCCATTGACTTAGATCAGGTTACAGAGAAAGGCAATGT CTGACATTTTTGGTCTCTGTTAGAAGTAGACTCTGTTGAAAAGAAAGAAGCTAAGCTAGGTGTGAAGAATGGAATTGGAAGCCCACTGCC TTCCCATAAGAAAGGTTTACCATAATTTACTCACTTTTTTCTGTGTTAGACATTTTGATTATCTGCAGTTTATTACTACAAGCAGTGGCA GAGTGAATGTCCTTGTACATTTTGAGTTACATGCTTAATTATGTCCTTGAGAAAGTTTCTAAAAGTGGAATGATTGGTTTGACTGGTTCA TAGGGCTTTAATTATACAATTTACCCCTCTAATTAGTACTATATGTATGTGACTTCCCTCCCCCTGCCAGAATACTCCTTGGTCAATTGT AGGTATTCTTTTTGGTTTAATTTTTGCCAATGTAATTAAAAAATGGTATGTCATTTTTAAAATTTGTATTTCTTTCATTACAAATAAGAT TGTTATGTCAGTATTGTTATTGGCTTTTCGTATTCCTCTTAACGTGAACCGTCTGTTCATTGTTTTTACCTGTTTTCGTTTTAGCAAGTA GTACTTAATTTAAAGTGTGAACTTAATATATAAGATGCCAGGACCATCATATTGATGACAAAAATCTATTATGTGGTTGTAGTGCATGTC TTGGAGTTAAACTCTTAAGTATCAAGAAGTAAAATAATTTCATTGTTTCTGTTACTAACATTAAAAGTGTGCAAATTGTATAAAATTAGG TACTTCGATTAGTAAAAGAAAAAAATTTGAATGTTTTTTTTTTTTATTTTATTAAGCATGCCCAGTTATGCCAAGCATAGTAAATAAAGG TCAAGTAGCATTTATAATAGAGGAAGTATTGTTATCCCTAGCATGAGTGTAATGGTGATATGAAAAACTTTGTCTTGTCATTATAATAAT >91868_91868_1_TMEM194B-AASDHPPT_TMEM194B_chr2_191389989_ENST00000409150_AASDHPPT_chr11_105950194_ENST00000278618_length(amino acids)=324AA_BP=73 MTPNEMGPRQGRWWLLLWLPPLATLPVRGEAAAAALSVRRCKALKEKDLIRTSESDCYCYNQNSQVEWKYIWSTMQAGRLMIRKLVAEKL NIPWNHIRLQRTAKGKPVLAKDSSNPYPNFNFNISHQGDYAVLAAEPELQVGIDIMKTSFPGRGSIPEFFHIMKRKFTNKEWETIRSFKD EWTQLDMFYRNWALKESFIKAIGVGLGFELQRLEFDLSPLNLDIGQVYKETRLFLDGEEEKEWAFEESKIDEHHFVAVALRKPDGSRHQD -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for TMEM194B-AASDHPPT |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for TMEM194B-AASDHPPT |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for TMEM194B-AASDHPPT |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |