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Fusion gene ID: 17438 |
FusionGeneSummary for ILVBL_SLC1A6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ILVBL_SLC1A6 | Fusion gene ID: 17438 | Hgene | Tgene | Gene symbol | ILVBL | SLC1A6 | Gene ID | 10994 | 6511 |
| Gene name | ilvB acetolactate synthase like | solute carrier family 1 member 6 | |
| Synonyms | 209L8|AHAS|HACL1L|ILV2H | EAAT4 | |
| Cytomap | 19p13.12 | 19p13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | acetolactate synthase-like protein2-hydroxyacyl-CoA lyase 1 likeacetolactate synthase homologilvB (bacterial acetolactate synthase)-likeilvB-like protein | excitatory amino acid transporter 4sodium-dependent glutamate/aspartate transportersolute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | A1L0T0 | P48664 | |
| Ensembl transtripts involved in fusion gene | ENST00000263383, ENST00000534378, ENST00000531635, | ENST00000430939, ENST00000221742, ENST00000600144, ENST00000598504, ENST00000544886, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 7 X 3 X 7=147 |
| # samples | 4 | 8 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/147*10)=-0.877744249949002 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ILVBL [Title/Abstract] AND SLC1A6 [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 |
| 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-78-7143-01A | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| * 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 | ENST00000263383 | ENST00000430939 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| In-frame | ENST00000263383 | ENST00000221742 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| Frame-shift | ENST00000263383 | ENST00000600144 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| 5CDS-intron | ENST00000263383 | ENST00000598504 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| 5CDS-intron | ENST00000263383 | ENST00000544886 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| Frame-shift | ENST00000534378 | ENST00000430939 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| Frame-shift | ENST00000534378 | ENST00000221742 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| In-frame | ENST00000534378 | ENST00000600144 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| 5CDS-intron | ENST00000534378 | ENST00000598504 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| 5CDS-intron | ENST00000534378 | ENST00000544886 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| 5UTR-3CDS | ENST00000531635 | ENST00000430939 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| 5UTR-3CDS | ENST00000531635 | ENST00000221742 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| 5UTR-3CDS | ENST00000531635 | ENST00000600144 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| 5UTR-intron | ENST00000531635 | ENST00000598504 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
| 5UTR-intron | ENST00000531635 | ENST00000544886 | ILVBL | chr19 | 15233504 | - | SLC1A6 | chr19 | 15061202 | - |
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FusionProtFeatures for ILVBL_SLC1A6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ILVBL | SLC1A6 |
| Sodium-dependent, high-affinity amino acid transporterthat mediates the uptake of L-glutamate and also L-aspartate andD-aspartate (PubMed:7791878). Functions as a symporter thattransports one amino acid molecule together with two or threeNa(+) ions and one proton, in parallel with the counter-transportof one K(+) ion. Mediates Cl(-) flux that is not coupled to aminoacid transport; this avoids the accumulation of negative chargesdue to aspartate and Na(+) symport (By similarity). Plays aredundant role in the rapid removal of released glutamate from thesynaptic cleft, which is essential for terminating thepostsynaptic action of glutamate (Probable).{ECO:0000250|UniProtKB:O35921, ECO:0000269|PubMed:7791878,ECO:0000305}. |
| 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 ILVBL_SLC1A6 |
| 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_ILVBL_ENST00000263383_chr19_15233504_-_SLC1A6_ENST00000221742_chr19_15061202_-_304aa METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKVDKASVRHGGENVAAVLRAHGVRFIFTLVGGHISPLLVACEKLGI RVVDTRHEVTAVFAADAMARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVR RVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSCDRLRTMTNVLGDSIGAAVIEHLSQRELELQE >In-frame_ILVBL_ENST00000534378_chr19_15233504_-_SLC1A6_ENST00000600144_chr19_15061202_-_197aa MARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQ SGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSCDRLRTMTNVLGDSIGAAVIEHLSQRELELQEAELTLPSLGKPYKSLMA |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ILVBL_ENST00000263383_chr19_15233504_-_SLC1A6_ENST00000221742_chr19_15061202_-_912nt ATGGAGACCCCCGCGGCCGCCGCCCCCGCTGGGAGCTTATTCCCCTCCTTCCTGCTCCTGGCCTGCGGGACGCTGGTGGCCGCCTTGCTG GGCGCCGCTCACCGCCTGGGGCTCTTCTATCAGCTGCTGCACAAGGTGGACAAGGCAAGCGTCCGGCATGGCGGAGAGAACGTGGCCGCT GTGCTGAGGGCCCATGGTGTGCGGTTCATCTTCACGCTGGTCGGTGGGCACATTTCCCCGCTGCTGGTGGCCTGTGAGAAACTGGGCATC CGTGTGGTGGACACACGCCATGAGGTCACGGCCGTCTTTGCTGCTGATGCTATGGCCCGCCTGTCCGGGACGGTGGGCGTGGCGGCAGTG ACAGCAGGCCCTGGCCTCACCAACACGGTGACTGCGGTGAAGAATGCTCAGATGGCTCAGTCCCCAATCCTGCTTCTGGGTGGGGCTGCC AGCACTCTGCTGCAGAACCGGGGTGCGCTCCAGGCTGTTGATCAGCTGTCCCTTTTCCGGCCACTCTGTAAGTTTTGTGTGTCTGTGCGG AGGGTGCGGGACATTGTGCCCACCCTGAGGGCCGCGATGGCTGCCGCCCAGTCGGGCACCCCAGGTCCGGTGTTTGTGGAGCTGCCCGTT GACGTGCTGTACCCCTACTTCATGGTCCAGAAGGAGATGGTGCCAGCCAAGCCACCCAAGGGCCTCGTGGGCCGAGTGGTCTCCTGTGAC CGGCTTCGCACAATGACCAACGTACTGGGGGACTCAATTGGAGCGGCCGTCATCGAGCACTTGTCTCAGCGGGAGCTGGAGCTTCAGGAA GCTGAGCTTACCCTCCCCAGCCTGGGGAAACCCTACAAGTCCCTCATGGCACAGGAGAAGGGGGCATCCCGGGGACGGGGAGGCAACGAG >In-frame_ILVBL_ENST00000534378_chr19_15233504_-_SLC1A6_ENST00000600144_chr19_15061202_-_591nt ATGGCCCGCCTGTCCGGGACGGTGGGCGTGGCGGCAGTGACAGCAGGCCCTGGCCTCACCAACACGGTGACTGCGGTGAAGAATGCTCAG ATGGCTCAGTCCCCAATCCTGCTTCTGGGTGGGGCTGCCAGCACTCTGCTGCAGAACCGGGGTGCGCTCCAGGCTGTTGATCAGCTGTCC CTTTTCCGGCCACTCTGTAAGTTTTGTGTGTCTGTGCGGAGGGTGCGGGACATTGTGCCCACCCTGAGGGCCGCGATGGCTGCCGCCCAG TCGGGCACCCCAGGTCCGGTGTTTGTGGAGCTGCCCGTTGACGTGCTGTACCCCTACTTCATGGTCCAGAAGGAGATGGTGCCAGCCAAG CCACCCAAGGGCCTCGTGGGCCGAGTGGTCTCCTGTGACCGGCTTCGCACAATGACCAACGTACTGGGGGACTCAATTGGAGCGGCCGTC ATCGAGCACTTGTCTCAGCGGGAGCTGGAGCTTCAGGAAGCTGAGCTTACCCTCCCCAGCCTGGGGAAACCCTACAAGTCCCTCATGGCA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ILVBL_ENST00000263383_chr19_15233504_-_SLC1A6_ENST00000221742_chr19_15061202_-_1068nt TGCGCATCGGGCCGGACTACGGGGCGCCGCTGAGCCAAGTGGGCCACCCGGGCACGGCCACGCTCCCGGGTCACGTGACACGGAGGGGGC CGAATTCTGCTGGAGGCAGCGCCATATCCTGGAGGTGAAGGTACCACCTCATGGAGACCCCCGCGGCCGCCGCCCCCGCTGGGAGCTTAT TCCCCTCCTTCCTGCTCCTGGCCTGCGGGACGCTGGTGGCCGCCTTGCTGGGCGCCGCTCACCGCCTGGGGCTCTTCTATCAGCTGCTGC ACAAGGTGGACAAGGCAAGCGTCCGGCATGGCGGAGAGAACGTGGCCGCTGTGCTGAGGGCCCATGGTGTGCGGTTCATCTTCACGCTGG TCGGTGGGCACATTTCCCCGCTGCTGGTGGCCTGTGAGAAACTGGGCATCCGTGTGGTGGACACACGCCATGAGGTCACGGCCGTCTTTG CTGCTGATGCTATGGCCCGCCTGTCCGGGACGGTGGGCGTGGCGGCAGTGACAGCAGGCCCTGGCCTCACCAACACGGTGACTGCGGTGA AGAATGCTCAGATGGCTCAGTCCCCAATCCTGCTTCTGGGTGGGGCTGCCAGCACTCTGCTGCAGAACCGGGGTGCGCTCCAGGCTGTTG ATCAGCTGTCCCTTTTCCGGCCACTCTGTAAGTTTTGTGTGTCTGTGCGGAGGGTGCGGGACATTGTGCCCACCCTGAGGGCCGCGATGG CTGCCGCCCAGTCGGGCACCCCAGGTCCGGTGTTTGTGGAGCTGCCCGTTGACGTGCTGTACCCCTACTTCATGGTCCAGAAGGAGATGG TGCCAGCCAAGCCACCCAAGGGCCTCGTGGGCCGAGTGGTCTCCTGTGACCGGCTTCGCACAATGACCAACGTACTGGGGGACTCAATTG GAGCGGCCGTCATCGAGCACTTGTCTCAGCGGGAGCTGGAGCTTCAGGAAGCTGAGCTTACCCTCCCCAGCCTGGGGAAACCCTACAAGT >In-frame_ILVBL_ENST00000534378_chr19_15233504_-_SLC1A6_ENST00000600144_chr19_15061202_-_844nt TCCCGGGTCACGTGACACGGAGGGGGCCGAATTCTGCTGGAGGCAGCGCCATATCCTGGAGGTGAAGGTGGACAAGGCAAGCGTCCGGCA TGGCGGAGAGAACGTGGCCGCTGTGCTGAGGGCCCATGGTGTGCGGTTCATCTTCACGCTGGTCGGTGGGCACATTTCCCCGCTGCTGGT GGCCTGTGAGAAACTGGGCATCCGTGTGGTGGACACACGCCATGAGGTCACGGCCGTCTTTGCTGCTGATGCTATGGCCCGCCTGTCCGG GACGGTGGGCGTGGCGGCAGTGACAGCAGGCCCTGGCCTCACCAACACGGTGACTGCGGTGAAGAATGCTCAGATGGCTCAGTCCCCAAT CCTGCTTCTGGGTGGGGCTGCCAGCACTCTGCTGCAGAACCGGGGTGCGCTCCAGGCTGTTGATCAGCTGTCCCTTTTCCGGCCACTCTG TAAGTTTTGTGTGTCTGTGCGGAGGGTGCGGGACATTGTGCCCACCCTGAGGGCCGCGATGGCTGCCGCCCAGTCGGGCACCCCAGGTCC GGTGTTTGTGGAGCTGCCCGTTGACGTGCTGTACCCCTACTTCATGGTCCAGAAGGAGATGGTGCCAGCCAAGCCACCCAAGGGCCTCGT GGGCCGAGTGGTCTCCTGTGACCGGCTTCGCACAATGACCAACGTACTGGGGGACTCAATTGGAGCGGCCGTCATCGAGCACTTGTCTCA GCGGGAGCTGGAGCTTCAGGAAGCTGAGCTTACCCTCCCCAGCCTGGGGAAACCCTACAAGTCCCTCATGGCACAGGAGAAGGGGGCATC |
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FusionGenePPI for ILVBL_SLC1A6 |
| 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 |
| ILVBL | XRCC6, CLN3, MYC, CUL3, HNRNPC, RAB14, FLOT1, SRSF1, ECT2, ATXN1, UBL4A, MMS19, ADRB2, TOM1, PPP6R1, PPP6R2, ILK, CEP76, EGFR, NTRK1, ATP1B1, CYC1, HSD17B14, ACAT1, ATP5L, PICALM, SDHB, SLC25A3, UQCRQ, VDAC2, VDAC3, MTCH1, NDUFS3, RAB1A, UQCRFS1, TCTN3, RPGRIP1L, KIF11, GBA2, SKA1, FAF2, DPEP1, OSBPL6, OSBPL3, THADA, XPO6, INTS12, INTS1, XPO4, C5AR2, COG7, PICK1, RABGGTA, EIF2B5, PTPN1, NCDN | SLC1A6 | ARIH2 |
| - 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 ILVBL_SLC1A6 |
| 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 |
| Tgene | SLC1A6 | P48664 | DB00142 | Glutamic Acid | Excitatory amino acid transporter 4 | small molecule | approved|nutraceutical |
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RelatedDiseases for ILVBL_SLC1A6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SLC1A6 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | SLC1A6 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | SLC1A6 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | SLC1A6 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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