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Fusion gene ID: 37701 |
FusionGeneSummary for TEC_HMGCLL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TEC_HMGCLL1 | Fusion gene ID: 37701 | Hgene | Tgene | Gene symbol | TEC | HMGCLL1 | Gene ID | 79651 | 54511 |
| Gene name | rhomboid 5 homolog 2 | 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 | |
| Synonyms | RHBDL5|RHBDL6|TEC|TOC|TOCG|iRhom2 | bA418P12.1|er-cHL | |
| Cytomap | 17q25.1 | 6p12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | inactive rhomboid protein 2rhomboid family member 2rhomboid veinlet-like protein 5rhomboid veinlet-like protein 6 | 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic3-hydroxymethyl-3-methylglutaryl-CoA lyase-like protein 13-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1endoplasmic reticulum 3-hydroxymethyl-3-methylglutaryl-CoA lyaseprobable 3-hydroxym | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P42680 | Q8TB92 | |
| Ensembl transtripts involved in fusion gene | ENST00000381501, ENST00000511471, | ENST00000274901, ENST00000398661, ENST00000370850, ENST00000508459, ENST00000308161, ENST00000428842, ENST00000358072, ENST00000507223, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 6 X 5 X 4=120 |
| # samples | 4 | 6 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TEC [Title/Abstract] AND HMGCLL1 [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 | HMGCLL1 | GO:0046951 | ketone body biosynthetic process | 22847177|22865860 |
| 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 | LUSC | TCGA-56-A49D-01A | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| * 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 | ENST00000381501 | ENST00000274901 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| Frame-shift | ENST00000381501 | ENST00000398661 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| Frame-shift | ENST00000381501 | ENST00000370850 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| Frame-shift | ENST00000381501 | ENST00000508459 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| Frame-shift | ENST00000381501 | ENST00000308161 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| 5CDS-intron | ENST00000381501 | ENST00000428842 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| 5CDS-intron | ENST00000381501 | ENST00000358072 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| 5CDS-5UTR | ENST00000381501 | ENST00000507223 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| intron-3CDS | ENST00000511471 | ENST00000274901 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| intron-3CDS | ENST00000511471 | ENST00000398661 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| intron-3CDS | ENST00000511471 | ENST00000370850 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| intron-3CDS | ENST00000511471 | ENST00000508459 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| intron-3CDS | ENST00000511471 | ENST00000308161 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| intron-intron | ENST00000511471 | ENST00000428842 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| intron-intron | ENST00000511471 | ENST00000358072 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
| intron-5UTR | ENST00000511471 | ENST00000507223 | TEC | chr4 | 48230494 | - | HMGCLL1 | chr6 | 55304357 | - |
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FusionProtFeatures for TEC_HMGCLL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TEC | HMGCLL1 |
| Non-receptor tyrosine kinase that contributes tosignaling from many receptors and participates as a signaltransducer in multiple downstream pathways, including regulationof the actin cytoskeleton. Plays a redundant role to ITK inregulation of the adaptive immune response. Regulates thedevelopment, function and differentiation of conventional T-cellsand nonconventional NKT-cells. Required for TCR-dependent IL2 geneinduction. Phosphorylates DOK1, one CD28-specific substrate, andcontributes to CD28-signaling. Mediates signals that negativelyregulate IL2RA expression induced by TCR cross-linking. Plays aredundant role to BTK in BCR-signaling for B-cell development andactivation, especially by phosphorylating STAP1, a BCR-signalingprotein. Required in mast cells for efficient cytokine production.Involved in both growth and differentiation mechanisms of myeloidcells through activation by the granulocyte colony-stimulatingfactor CSF3, a critical cytokine to promoting the growth,differentiation, and functional activation of myeloid cells.Participates in platelet signaling downstream of integrinactivation. Cooperates with JAK2 through reciprocalphosphorylation to mediate cytokine-driven activation of FOStranscription. GRB10, a negative modifier of the FOS activationpathway, is another substrate of TEC. TEC is involved in Gprotein-coupled receptor- and integrin-mediated signalings inblood platelets. Plays a role in hepatocyte proliferation andliver regeneration and is involved in HGF-induced ERK signalingpathway. TEC regulates also FGF2 unconventional secretion(endoplasmic reticulum (ER)/Golgi-independent mechanism) undervarious physiological conditions through phosphorylation of FGF2'Tyr-215'. May also be involved in the regulation of osteoclastdifferentiation. {ECO:0000269|PubMed:10518561,ECO:0000269|PubMed:19883687, ECO:0000269|PubMed:20230531,ECO:0000269|PubMed:9753425}. | Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoAlyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key stepin ketogenesis, the products of which support energy production innonhepatic animal tissues. {ECO:0000269|PubMed:22847177,ECO:0000269|PubMed:22865860}. |
| 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 TEC_HMGCLL1 |
| 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 TEC_HMGCLL1 |
| 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 |
| TEC | PRLR, VAV1, RAC1, JAK1, JAK2, PIK3R2, LYN, KIT, DOK1, WAS, SOCS1, GNA12, GNA13, ARHGEF12, IKBKG, FASLG, SHC1, MED28, GRB2, ERBB2, RPE, SORT1 | HMGCLL1 | HMGCL, VPS13C |
| - 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 TEC_HMGCLL1 |
| 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 TEC_HMGCLL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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