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Fusion gene ID: 38324 |
FusionGeneSummary for TMED10_TTLL5 |
Fusion gene summary |
Fusion gene information | Fusion gene name: TMED10_TTLL5 | Fusion gene ID: 38324 | Hgene | Tgene | Gene symbol | TMED10 | TTLL5 | Gene ID | 10972 | 254173 |
Gene name | transmembrane p24 trafficking protein 10 | tubulin tyrosine ligase like 10 | |
Synonyms | P24(DELTA)|S31I125|S31III125|TMP21|Tmp-21-I|p23|p24d1 | TTLL5 | |
Cytomap | 14q24.3 | 1p36.33 | |
Type of gene | protein-coding | protein-coding | |
Description | transmembrane emp24 domain-containing protein 1021 kDa transmembrane trafficking proteinp24 family protein delta-1p24deltap24delta1testicular tissue protein Li 206transmembrane emp24-like trafficking protein 10transmembrane protein Tmp21 | inactive polyglycylase TTLL10tubulin tyrosine ligase-like family, member 10tubulin tyrosine ligase-like family, member 5tubulin--tyrosine ligase-like protein 10 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P49755 | Q6EMB2 | |
Ensembl transtripts involved in fusion gene | ENST00000303575, ENST00000557670, | ENST00000557636, ENST00000286650, ENST00000298832, ENST00000556893, ENST00000554510, ENST00000556977, ENST00000555422, | |
Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 7 X 6 X 6=252 |
# samples | 6 | 7 | |
** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/252*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TMED10 [Title/Abstract] AND TTLL5 [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 | TMED10 | GO:0006886 | intracellular protein transport | 20427317 |
Hgene | TMED10 | GO:0035964 | COPI-coated vesicle budding | 10052452 |
Tgene | TTLL5 | GO:0018094 | protein polyglycylation | 19524510 |
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 | HNSC | TCGA-CV-6961-01A | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
* 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 | ENST00000303575 | ENST00000557636 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
5CDS-intron | ENST00000303575 | ENST00000286650 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
5CDS-intron | ENST00000303575 | ENST00000298832 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
5CDS-intron | ENST00000303575 | ENST00000556893 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
5CDS-intron | ENST00000303575 | ENST00000554510 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
5CDS-intron | ENST00000303575 | ENST00000556977 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
5CDS-intron | ENST00000303575 | ENST00000555422 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
intron-3CDS | ENST00000557670 | ENST00000557636 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
intron-intron | ENST00000557670 | ENST00000286650 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
intron-intron | ENST00000557670 | ENST00000298832 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
intron-intron | ENST00000557670 | ENST00000556893 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
intron-intron | ENST00000557670 | ENST00000554510 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
intron-intron | ENST00000557670 | ENST00000556977 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
intron-intron | ENST00000557670 | ENST00000555422 | TMED10 | chr14 | 75643058 | - | TTLL5 | chr14 | 76286350 | + |
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FusionProtFeatures for TMED10_TTLL5 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TMED10 | TTLL5 |
Involved in vesicular protein trafficking. Mainlyfunctions in the early secretory pathway. Thought to act as cargoreceptor at the lumenal side for incorporation of secretory cargomolecules into transport vesicles and to be involved in vesiclecoat formation at the cytoplasmic side. In COPII vesicle-mediatedanterograde transport involved in the transport of GPI-anchoredproteins and proposed to act together with TMED2 as their cargoreceptor; the function specifically implies SEC24C and SEC24D ofthe COPII vesicle coat and lipid raft-like microdomains of the ER.Recognizes GPI anchors structural remodeled in the ER by PGAP1 andMPPE1 (By similarity). In COPI vesicle-mediated retrogradetransport involved in the biogenesis of COPI vesicles and vesiclecoat recruitment. On Golgi membranes, acts as primary receptor forARF1-GDP which is involved in COPI-vesicle formation. Increasescoatomer-dependent GTPase-activating activity of ARFGAP2. Involvedin trafficking of G protein-coupled receptors (GPCRs). RegulatesF2LR1, OPRM1 and P2RY4 exocytic trafficking from the Golgi to theplasma membrane thus contributing to receptor resensitization.Involved in trafficking of amyloid beta A4 protein and solubleAPP-beta release (independent of modulation of gamma-secretaseactivity). As part of the presenilin-dependent gamma-secretasecomplex regulates gamma-cleavages of the amyloid beta A4 proteinto yield amyloid-beta 40 (Abeta40). Involved in organization ofthe Golgi apparatus. {ECO:0000250, ECO:0000269|PubMed:10052452,ECO:0000269|PubMed:11726511, ECO:0000269|PubMed:16641999,ECO:0000269|PubMed:17288597, ECO:0000269|PubMed:19296914,ECO:0000269|PubMed:20427317, ECO:0000269|PubMed:21219331}. | Polyglutamylase which preferentially modifies alpha-tubulin. Involved in the side-chain initiation step of thepolyglutamylation reaction rather than in the elongation step (Bysimilarity). Required for CCSAP localization to both spindle andcilia microtubules. Increases the effects of NCOA2 inglucocorticoid receptor-mediated repression and induction and inandrogen receptor-mediated induction (PubMed:17116691,PubMed:22493317). {ECO:0000250|UniProtKB:Q8CHB8,ECO:0000269|PubMed:17116691, ECO:0000269|PubMed:22493317}. |
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 |
Tgene | >TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000286650 | + | 0 | 10 | 552_557 | -69 | 270 | Compositional bias | Note=Poly-Arg |
Tgene | >TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000286650 | + | 0 | 10 | 582_590 | -69 | 270 | Compositional bias | Note=Poly-Glu |
Tgene | >TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000286650 | + | 0 | 10 | 776_780 | -69 | 270 | Compositional bias | Note=Poly-Glu |
Tgene | >TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000286650 | + | 0 | 10 | 827_830 | -69 | 270 | Compositional bias | Note=Poly-Asn |
Tgene | >TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000556893 | + | 12 | 17 | 776_780 | 608 | 818 | Compositional bias | Note=Poly-Glu |
Tgene | >TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000556893 | + | 12 | 17 | 827_830 | 608 | 818 | Compositional bias | Note=Poly-Asn |
Tgene | >TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000286650 | + | 0 | 10 | 62_407 | -69 | 270 | Domain | TTL |
Tgene | >TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000286650 | + | 0 | 10 | 208_211 | -69 | 270 | Nucleotide binding | ATP binding |
Tgene | >TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000286650 | + | 0 | 10 | 378_488 | -69 | 270 | Region | c-MTBD region |
- 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 | >TMED10 | chr14:75643058 | chr14:76286350 | ENST00000303575 | - | 1 | 5 | 41_193 | 75 | 220 | Domain | GOLD |
Hgene | >TMED10 | chr14:75643058 | chr14:76286350 | ENST00000303575 | - | 1 | 5 | 211_219 | 75 | 220 | Motif | Note=COPI vesicle coat-binding |
Hgene | >TMED10 | chr14:75643058 | chr14:76286350 | ENST00000303575 | - | 1 | 5 | 147_178 | 75 | 220 | Region | Note=Required for TMED10 and TMED2 cis-Golgi network localization |
Hgene | >TMED10 | chr14:75643058 | chr14:76286350 | ENST00000303575 | - | 1 | 5 | 32_185 | 75 | 220 | Topological domain | Lumenal |
Hgene | >TMED10 | chr14:75643058 | chr14:76286350 | ENST00000303575 | - | 1 | 5 | 186_206 | 75 | 220 | Transmembrane | Helical |
Tgene | TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000298832 | + | 26 | 32 | 552_557 | 1057 | 1282 | Compositional bias | Note=Poly-Arg |
Tgene | TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000298832 | + | 26 | 32 | 582_590 | 1057 | 1282 | Compositional bias | Note=Poly-Glu |
Tgene | TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000298832 | + | 26 | 32 | 776_780 | 1057 | 1282 | Compositional bias | Note=Poly-Glu |
Tgene | TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000298832 | + | 26 | 32 | 827_830 | 1057 | 1282 | Compositional bias | Note=Poly-Asn |
Tgene | TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000556893 | + | 12 | 17 | 552_557 | 608 | 818 | Compositional bias | Note=Poly-Arg |
Tgene | TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000556893 | + | 12 | 17 | 582_590 | 608 | 818 | Compositional bias | Note=Poly-Glu |
Tgene | TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000298832 | + | 26 | 32 | 62_407 | 1057 | 1282 | Domain | TTL |
Tgene | TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000556893 | + | 12 | 17 | 62_407 | 608 | 818 | Domain | TTL |
Tgene | TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000298832 | + | 26 | 32 | 208_211 | 1057 | 1282 | Nucleotide binding | ATP binding |
Tgene | TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000556893 | + | 12 | 17 | 208_211 | 608 | 818 | Nucleotide binding | ATP binding |
Tgene | TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000298832 | + | 26 | 32 | 378_488 | 1057 | 1282 | Region | c-MTBD region |
Tgene | TTLL5 | chr14:75643058 | chr14:76286350 | ENST00000556893 | + | 12 | 17 | 378_488 | 608 | 818 | Region | c-MTBD region |
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FusionGeneSequence for TMED10_TTLL5 |
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_TMED10_ENST00000303575_chr14_75643058_-_TTLL5_ENST00000557636_chr14_76286350_+_285aa MSGLSGPPARRGPFPLALLLLFLLGPRLVLAISFHLPINSRKCLREEIHKDLLVTGAYEISDQSGGAGGLRSHLKVTNLNLATGIINRSS ASAPPTLRPIISPSGPTWSTQSDPQAPENHSSSPGSRSLQTGGFAWEGEVENNVYSQATGVVPQHKYHPTAGSYQLQFALQQLEQQKLQS RQLLDQSRARHQAIFGSQTLPNSNLWTMNNGAGCRISSATASGQKPTTLPQKVVPPPSSCASLVPKPPPNHEQVLRRATSQKASNTRFRS |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_TMED10_ENST00000303575_chr14_75643058_-_TTLL5_ENST00000557636_chr14_76286350_+_855nt ATGTCTGGTTTGTCTGGCCCACCAGCCCGGCGCGGCCCTTTTCCGTTAGCGTTGCTGCTTTTGTTCCTGCTCGGCCCCAGATTGGTCCTT GCCATCTCCTTCCATCTGCCCATTAACTCTCGCAAGTGCCTCCGTGAGGAGATTCACAAGGACCTGCTAGTGACTGGCGCGTACGAGATC TCCGACCAGTCTGGGGGCGCTGGCGGCCTGCGCAGCCACCTCAAGGTAACAAACCTGAATTTGGCAACTGGCATCATAAACAGAAGCAGT GCTTCAGCTCCCCCAACCCTCCGACCCATCATCAGTCCTAGTGGCCCGACATGGTCTACACAGTCAGACCCCCAAGCTCCCGAGAATCAC TCCAGCTCTCCTGGAAGCAGGAGCCTGCAGACAGGGGGATTTGCCTGGGAAGGAGAAGTAGAAAACAACGTGTACAGCCAGGCTACAGGG GTGGTCCCCCAGCACAAGTATCACCCCACAGCAGGCAGCTATCAGCTTCAATTTGCCCTGCAGCAACTTGAACAACAAAAACTTCAGTCC CGGCAGCTCCTGGACCAGAGTCGAGCCCGGCACCAGGCAATCTTTGGCAGCCAGACACTACCTAACTCCAATTTATGGACAATGAATAAT GGTGCAGGTTGTAGAATTTCCAGTGCCACAGCTAGTGGCCAGAAGCCAACCACTCTGCCACAAAAAGTGGTACCACCTCCAAGTTCTTGC GCCTCCCTGGTTCCCAAACCCCCACCCAACCACGAACAAGTGCTCAGAAGGGCAACATCCCAGAAAGCTTCCAATACCCGCTTCAGATCC |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_TMED10_ENST00000303575_chr14_75643058_-_TTLL5_ENST00000557636_chr14_76286350_+_1014nt CCCCGGTTCCGGCGCGGTTGAGGCCTTCGGTGGTGAACGAGTCTCCAGCACCATGTCTGGTTTGTCTGGCCCACCAGCCCGGCGCGGCCC TTTTCCGTTAGCGTTGCTGCTTTTGTTCCTGCTCGGCCCCAGATTGGTCCTTGCCATCTCCTTCCATCTGCCCATTAACTCTCGCAAGTG CCTCCGTGAGGAGATTCACAAGGACCTGCTAGTGACTGGCGCGTACGAGATCTCCGACCAGTCTGGGGGCGCTGGCGGCCTGCGCAGCCA CCTCAAGGTAACAAACCTGAATTTGGCAACTGGCATCATAAACAGAAGCAGTGCTTCAGCTCCCCCAACCCTCCGACCCATCATCAGTCC TAGTGGCCCGACATGGTCTACACAGTCAGACCCCCAAGCTCCCGAGAATCACTCCAGCTCTCCTGGAAGCAGGAGCCTGCAGACAGGGGG ATTTGCCTGGGAAGGAGAAGTAGAAAACAACGTGTACAGCCAGGCTACAGGGGTGGTCCCCCAGCACAAGTATCACCCCACAGCAGGCAG CTATCAGCTTCAATTTGCCCTGCAGCAACTTGAACAACAAAAACTTCAGTCCCGGCAGCTCCTGGACCAGAGTCGAGCCCGGCACCAGGC AATCTTTGGCAGCCAGACACTACCTAACTCCAATTTATGGACAATGAATAATGGTGCAGGTTGTAGAATTTCCAGTGCCACAGCTAGTGG CCAGAAGCCAACCACTCTGCCACAAAAAGTGGTACCACCTCCAAGTTCTTGCGCCTCCCTGGTTCCCAAACCCCCACCCAACCACGAACA AGTGCTCAGAAGGGCAACATCCCAGAAAGCTTCCAATACCCGCTTCAGATCCTCCTTTCAAAACTATTTGTGGTATTTCTTCCAAGCAGT CAGCTGAACTGAGGACGACAGCCTACAAACAACTACATGCATCTGAACTGTCTCTTGTAAATGAGCTTTTTTCAGAGCCAGAATCATACT |
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FusionGenePPI for TMED10_TTLL5 |
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 |
TMED10 | GORASP2, RYK, CDK2, COPA, COPB1, COPB2, COPG1, ARCN1, COPE, COPZ1, TMED9, SEC22B, VAMP2, PTRF, NIT2, S100A16, PRDX6, EIF3C, VCP, ATF2, SEC23B, UBL4A, DHODH, FBXO6, ASB8, RNF2, TMED1, GOLGB1, TMED4, TMED2, TMED7, TMED3, TMED5, EMC7, EPHX1, LMAN1, LMAN2, NAGLU, KRAS, COPG2, TCTN1, RAB5C, CDKN2AIP, RAB1A, TSSC1, LIPG, FGF3, PTPRO, COX15, HSD17B10, PDHA1, SDHA, TRIM25 | TTLL5 | TP53, TP73, CREB3, THBS3, MED4, PCM1, CEP128, OFD1, PTTG1, CEP135, FGFR1OP, GAR1, CCDC14, VWCE, TTC25, CACNG5 |
- 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 |
Hgene | TMED10 | chr14:75643058 | chr14:76286350 | ENST00000303575 | - | 1 | 5 | 207_219 | 75 | 220 | ARF1 |
Hgene | TMED10 | chr14:75643058 | chr14:76286350 | ENST00000303575 | - | 1 | 5 | 204_219 | 75 | 220 | COPG1 |
- 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 TMED10_TTLL5 |
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 TMED10_TTLL5 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | TTLL5 | C3495559 | Juvenile arthritis | 1 | CTD_human |
Tgene | TTLL5 | C4014501 | CONE-ROD DYSTROPHY 19 | 1 | UNIPROT |