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Fusion gene ID: 19050 |
FusionGeneSummary for KLHL5_SLC16A2 |
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Fusion gene information | Fusion gene name: KLHL5_SLC16A2 | Fusion gene ID: 19050 | Hgene | Tgene | Gene symbol | KLHL5 | SLC16A2 | Gene ID | 51088 | 6567 |
Gene name | kelch like family member 5 | solute carrier family 16 member 2 | |
Synonyms | - | AHDS|DXS128|DXS128E|MCT 7|MCT 8|MCT7|MCT8|MRX22|XPCT | |
Cytomap | 4p14 | Xq13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | kelch-like protein 5lymphocyte activation-associated protein | monocarboxylate transporter 8X-linked PEST-containing transportermonocarboxylate transporter 7solute carrier family 16, member 2 (thyroid hormone transporter) | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q96PQ7 | P36021 | |
Ensembl transtripts involved in fusion gene | ENST00000261425, ENST00000508137, ENST00000504108, ENST00000359687, ENST00000381930, ENST00000261426, | ENST00000276033, ENST00000587091, | |
Fusion gene scores | * DoF score | 5 X 3 X 4=60 | 1 X 1 X 1=1 |
# samples | 5 | 1 | |
** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: KLHL5 [Title/Abstract] AND SLC16A2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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-7238-01A | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5UTR-3CDS | ENST00000261425 | ENST00000276033 | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
5UTR-3CDS | ENST00000261425 | ENST00000587091 | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
5UTR-3CDS | ENST00000508137 | ENST00000276033 | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
5UTR-3CDS | ENST00000508137 | ENST00000587091 | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
intron-3CDS | ENST00000504108 | ENST00000276033 | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
intron-3CDS | ENST00000504108 | ENST00000587091 | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
intron-3CDS | ENST00000359687 | ENST00000276033 | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
intron-3CDS | ENST00000359687 | ENST00000587091 | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
intron-3CDS | ENST00000381930 | ENST00000276033 | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
intron-3CDS | ENST00000381930 | ENST00000587091 | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
intron-3CDS | ENST00000261426 | ENST00000276033 | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
intron-3CDS | ENST00000261426 | ENST00000587091 | KLHL5 | chr4 | 39046716 | + | SLC16A2 | chrX | 73740825 | + |
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FusionProtFeatures for KLHL5_SLC16A2 |
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Hgene | Tgene |
KLHL5 | SLC16A2 |
Very active and specific thyroid hormone transporter.Stimulates cellular uptake of thyroxine (T4), triiodothyronine(T3), reverse triiodothyronine (rT3) and diidothyronine. Does nottransport Leu, Phe, Trp or Tyr. {ECO:0000269|PubMed:23550058,ECO:0000269|PubMed:26426690}. |
![]() * 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 KLHL5_SLC16A2 |
![]() (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 KLHL5_SLC16A2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
KLHL5 | GABARAPL2, TK1, MAP1LC3B, SMN1, CUL3, FUS, MTNR1A | SLC16A2 | TEX29, PTH1R, NT5E, DLK1 |
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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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RelatedDrugs for KLHL5_SLC16A2 |
![]() (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 KLHL5_SLC16A2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | KLHL5 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
Tgene | SLC16A2 | C0795889 | Allan-Herndon-Dudley syndrome (AHDS) | 7 | CTD_human;ORPHANET;UNIPROT |
Tgene | SLC16A2 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |