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Fusion gene ID: 19004 |
FusionGeneSummary for KLHDC4_CA5A |
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Fusion gene information | Fusion gene name: KLHDC4_CA5A | Fusion gene ID: 19004 | Hgene | Tgene | Gene symbol | KLHDC4 | CA5A | Gene ID | 54758 | 763 |
Gene name | kelch domain containing 4 | carbonic anhydrase 5A | |
Synonyms | - | CA5|CA5AD|CAV|CAVA|GS1-21A4.1 | |
Cytomap | 16q24.2 | 16q24.2 | |
Type of gene | protein-coding | protein-coding | |
Description | kelch domain-containing protein 4 | carbonic anhydrase 5A, mitochondrialCA-VAcarbonate dehydratase VAcarbonic anhydrase V, mitochondrialcarbonic anhydrase VA, mitochondrialcarbonic dehydratase | |
Modification date | 20180519 | 20180522 | |
UniProtAcc | Q8TBB5 | P35218 | |
Ensembl transtripts involved in fusion gene | ENST00000353170, ENST00000347925, ENST00000566349, ENST00000270583, | ENST00000309893, ENST00000568801, | |
Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 1 X 1 X 1=1 |
# samples | 4 | 1 | |
** MAII score | log2(4/48*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: KLHDC4 [Title/Abstract] AND CA5A [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-BA-A4II-01A | KLHDC4 | chr16 | 87799398 | - | CA5A | chr16 | 87936126 | - |
* 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 |
In-frame | ENST00000353170 | ENST00000309893 | KLHDC4 | chr16 | 87799398 | - | CA5A | chr16 | 87936126 | - |
5CDS-intron | ENST00000353170 | ENST00000568801 | KLHDC4 | chr16 | 87799398 | - | CA5A | chr16 | 87936126 | - |
In-frame | ENST00000347925 | ENST00000309893 | KLHDC4 | chr16 | 87799398 | - | CA5A | chr16 | 87936126 | - |
5CDS-intron | ENST00000347925 | ENST00000568801 | KLHDC4 | chr16 | 87799398 | - | CA5A | chr16 | 87936126 | - |
intron-3CDS | ENST00000566349 | ENST00000309893 | KLHDC4 | chr16 | 87799398 | - | CA5A | chr16 | 87936126 | - |
intron-intron | ENST00000566349 | ENST00000568801 | KLHDC4 | chr16 | 87799398 | - | CA5A | chr16 | 87936126 | - |
In-frame | ENST00000270583 | ENST00000309893 | KLHDC4 | chr16 | 87799398 | - | CA5A | chr16 | 87936126 | - |
5CDS-intron | ENST00000270583 | ENST00000568801 | KLHDC4 | chr16 | 87799398 | - | CA5A | chr16 | 87936126 | - |
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FusionProtFeatures for KLHDC4_CA5A |
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Hgene | Tgene |
KLHDC4 | CA5A |
Reversible hydration of carbon dioxide. Low activity. |
![]() * 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 | >CA5A | chr16:87799398 | chr16:87936126 | ENST00000309893 | - | 2 | 7 | 235_236 | 153 | 306 | Region | Substrate 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 | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000270583 | - | 1 | 12 | 133_187 | 33 | 564 | Repeat | Note=Kelch 2 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000270583 | - | 1 | 12 | 188_241 | 33 | 564 | Repeat | Note=Kelch 3 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000270583 | - | 1 | 12 | 243_289 | 33 | 564 | Repeat | Note=Kelch 4 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000270583 | - | 1 | 12 | 308_361 | 33 | 564 | Repeat | Note=Kelch 5 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000270583 | - | 1 | 12 | 443_494 | 33 | 564 | Repeat | Note=Kelch 6 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000270583 | - | 1 | 12 | 77_129 | 33 | 564 | Repeat | Note=Kelch 1 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000347925 | - | 1 | 11 | 133_187 | 33 | 524 | Repeat | Note=Kelch 2 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000347925 | - | 1 | 11 | 188_241 | 33 | 524 | Repeat | Note=Kelch 3 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000347925 | - | 1 | 11 | 243_289 | 33 | 524 | Repeat | Note=Kelch 4 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000347925 | - | 1 | 11 | 308_361 | 33 | 524 | Repeat | Note=Kelch 5 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000347925 | - | 1 | 11 | 443_494 | 33 | 524 | Repeat | Note=Kelch 6 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000347925 | - | 1 | 11 | 77_129 | 33 | 524 | Repeat | Note=Kelch 1 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000353170 | - | 1 | 10 | 133_187 | 33 | 521 | Repeat | Note=Kelch 2 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000353170 | - | 1 | 10 | 188_241 | 33 | 521 | Repeat | Note=Kelch 3 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000353170 | - | 1 | 10 | 243_289 | 33 | 521 | Repeat | Note=Kelch 4 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000353170 | - | 1 | 10 | 308_361 | 33 | 521 | Repeat | Note=Kelch 5 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000353170 | - | 1 | 10 | 443_494 | 33 | 521 | Repeat | Note=Kelch 6 |
Hgene | >KLHDC4 | chr16:87799398 | chr16:87936126 | ENST00000353170 | - | 1 | 10 | 77_129 | 33 | 521 | Repeat | Note=Kelch 1 |
Tgene | CA5A | chr16:87799398 | chr16:87936126 | ENST00000309893 | - | 2 | 7 | 39_296 | 153 | 306 | Domain | Alpha-carbonic anhydrase |
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FusionGeneSequence for KLHDC4_CA5A |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_KLHDC4_ENST00000353170_chr16_87799398_-_CA5A_ENST00000309893_chr16_87936126_-_186aa MGKKGKKEKKGRGAEKTAAKMEKKVSKRSRKEELHLVHWNSVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARA AMRPFDPSTLLPTCWDYWTYAGSLTTPPLTESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNYRPLQPLMNRKVWASFQATN >In-frame_KLHDC4_ENST00000347925_chr16_87799398_-_CA5A_ENST00000309893_chr16_87936126_-_186aa MGKKGKKEKKGRGAEKTAAKMEKKVSKRSRKEELHLVHWNSVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARA AMRPFDPSTLLPTCWDYWTYAGSLTTPPLTESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNYRPLQPLMNRKVWASFQATN >In-frame_KLHDC4_ENST00000270583_chr16_87799398_-_CA5A_ENST00000309893_chr16_87936126_-_186aa MGKKGKKEKKGRGAEKTAAKMEKKVSKRSRKEELHLVHWNSVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARA AMRPFDPSTLLPTCWDYWTYAGSLTTPPLTESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNYRPLQPLMNRKVWASFQATN |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_KLHDC4_ENST00000353170_chr16_87799398_-_CA5A_ENST00000309893_chr16_87936126_-_558nt ATGGGCAAGAAGGGCAAGAAGGAGAAGAAGGGCCGCGGCGCGGAGAAGACGGCCGCCAAGATGGAGAAGAAGGTGTCTAAGCGCTCGCGG AAGGAGGAGCTGCATTTAGTTCACTGGAATTCTGTGAAATACCAAAATTACAAGGAAGCTGTCGTGGGAGAGAATGGTTTGGCTGTGATA GGCGTGTTTTTAAAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGACGCGCGGGCG GCCATGCGCCCCTTCGACCCCTCCACTCTGCTGCCCACCTGCTGGGATTACTGGACCTACGCGGGCTCGCTCACCACCCCGCCGCTGACC GAGTCGGTCACCTGGATCATCCAGAAGGAGCCCGTTGAAGTGGCCCCAAGCCAGCTCTCTGCATTTCGTACTCTCCTGTTTTCTGCACTT GGTGAAGAGGAGAAGATGATGGTGAACAACTATCGCCCACTTCAACCCTTGATGAACCGGAAGGTCTGGGCGTCCTTCCAGGCCACTAAT >In-frame_KLHDC4_ENST00000347925_chr16_87799398_-_CA5A_ENST00000309893_chr16_87936126_-_558nt ATGGGCAAGAAGGGCAAGAAGGAGAAGAAGGGCCGCGGCGCGGAGAAGACGGCCGCCAAGATGGAGAAGAAGGTGTCTAAGCGCTCGCGG AAGGAGGAGCTGCATTTAGTTCACTGGAATTCTGTGAAATACCAAAATTACAAGGAAGCTGTCGTGGGAGAGAATGGTTTGGCTGTGATA GGCGTGTTTTTAAAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGACGCGCGGGCG GCCATGCGCCCCTTCGACCCCTCCACTCTGCTGCCCACCTGCTGGGATTACTGGACCTACGCGGGCTCGCTCACCACCCCGCCGCTGACC GAGTCGGTCACCTGGATCATCCAGAAGGAGCCCGTTGAAGTGGCCCCAAGCCAGCTCTCTGCATTTCGTACTCTCCTGTTTTCTGCACTT GGTGAAGAGGAGAAGATGATGGTGAACAACTATCGCCCACTTCAACCCTTGATGAACCGGAAGGTCTGGGCGTCCTTCCAGGCCACTAAT >In-frame_KLHDC4_ENST00000270583_chr16_87799398_-_CA5A_ENST00000309893_chr16_87936126_-_558nt ATGGGCAAGAAGGGCAAGAAGGAGAAGAAGGGCCGCGGCGCGGAGAAGACGGCCGCCAAGATGGAGAAGAAGGTGTCTAAGCGCTCGCGG AAGGAGGAGCTGCATTTAGTTCACTGGAATTCTGTGAAATACCAAAATTACAAGGAAGCTGTCGTGGGAGAGAATGGTTTGGCTGTGATA GGCGTGTTTTTAAAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGACGCGCGGGCG GCCATGCGCCCCTTCGACCCCTCCACTCTGCTGCCCACCTGCTGGGATTACTGGACCTACGCGGGCTCGCTCACCACCCCGCCGCTGACC GAGTCGGTCACCTGGATCATCCAGAAGGAGCCCGTTGAAGTGGCCCCAAGCCAGCTCTCTGCATTTCGTACTCTCCTGTTTTCTGCACTT GGTGAAGAGGAGAAGATGATGGTGAACAACTATCGCCCACTTCAACCCTTGATGAACCGGAAGGTCTGGGCGTCCTTCCAGGCCACTAAT |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_KLHDC4_ENST00000353170_chr16_87799398_-_CA5A_ENST00000309893_chr16_87936126_-_677nt CCCGGCAAGATGGGCAAGAAGGGCAAGAAGGAGAAGAAGGGCCGCGGCGCGGAGAAGACGGCCGCCAAGATGGAGAAGAAGGTGTCTAAG CGCTCGCGGAAGGAGGAGCTGCATTTAGTTCACTGGAATTCTGTGAAATACCAAAATTACAAGGAAGCTGTCGTGGGAGAGAATGGTTTG GCTGTGATAGGCGTGTTTTTAAAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGAC GCGCGGGCGGCCATGCGCCCCTTCGACCCCTCCACTCTGCTGCCCACCTGCTGGGATTACTGGACCTACGCGGGCTCGCTCACCACCCCG CCGCTGACCGAGTCGGTCACCTGGATCATCCAGAAGGAGCCCGTTGAAGTGGCCCCAAGCCAGCTCTCTGCATTTCGTACTCTCCTGTTT TCTGCACTTGGTGAAGAGGAGAAGATGATGGTGAACAACTATCGCCCACTTCAACCCTTGATGAACCGGAAGGTCTGGGCGTCCTTCCAG GCCACTAATGAGGGCACAAGGTCCTAGAGACATTAGGTCCACATGAATAGCAGAACTGACTTTGAAGGAAGGAAGCGTTGTTTCCCAAGT >In-frame_KLHDC4_ENST00000347925_chr16_87799398_-_CA5A_ENST00000309893_chr16_87936126_-_754nt CTCCGCCCCACGAGCACCTGTTTCCGAGCGGAGAGCGCGGGCCGTTTTCTTTCCTGGTGTCCCGTCGCGGCTTGGGACCCGGCAAGATGG GCAAGAAGGGCAAGAAGGAGAAGAAGGGCCGCGGCGCGGAGAAGACGGCCGCCAAGATGGAGAAGAAGGTGTCTAAGCGCTCGCGGAAGG AGGAGCTGCATTTAGTTCACTGGAATTCTGTGAAATACCAAAATTACAAGGAAGCTGTCGTGGGAGAGAATGGTTTGGCTGTGATAGGCG TGTTTTTAAAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGACGCGCGGGCGGCCA TGCGCCCCTTCGACCCCTCCACTCTGCTGCCCACCTGCTGGGATTACTGGACCTACGCGGGCTCGCTCACCACCCCGCCGCTGACCGAGT CGGTCACCTGGATCATCCAGAAGGAGCCCGTTGAAGTGGCCCCAAGCCAGCTCTCTGCATTTCGTACTCTCCTGTTTTCTGCACTTGGTG AAGAGGAGAAGATGATGGTGAACAACTATCGCCCACTTCAACCCTTGATGAACCGGAAGGTCTGGGCGTCCTTCCAGGCCACTAATGAGG GCACAAGGTCCTAGAGACATTAGGTCCACATGAATAGCAGAACTGACTTTGAAGGAAGGAAGCGTTGTTTCCCAAGTTTCACAATGTGAT >In-frame_KLHDC4_ENST00000270583_chr16_87799398_-_CA5A_ENST00000309893_chr16_87936126_-_727nt GCGGAGAGCGCGGGCCGTTTTCTTTCCTGGTGTCCCGTCGCGGCTTGGGACCCGGCAAGATGGGCAAGAAGGGCAAGAAGGAGAAGAAGG GCCGCGGCGCGGAGAAGACGGCCGCCAAGATGGAGAAGAAGGTGTCTAAGCGCTCGCGGAAGGAGGAGCTGCATTTAGTTCACTGGAATT CTGTGAAATACCAAAATTACAAGGAAGCTGTCGTGGGAGAGAATGGTTTGGCTGTGATAGGCGTGTTTTTAAAGCTCGGGGCCCATCATC AGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGACGCGCGGGCGGCCATGCGCCCCTTCGACCCCTCCACTCTGC TGCCCACCTGCTGGGATTACTGGACCTACGCGGGCTCGCTCACCACCCCGCCGCTGACCGAGTCGGTCACCTGGATCATCCAGAAGGAGC CCGTTGAAGTGGCCCCAAGCCAGCTCTCTGCATTTCGTACTCTCCTGTTTTCTGCACTTGGTGAAGAGGAGAAGATGATGGTGAACAACT ATCGCCCACTTCAACCCTTGATGAACCGGAAGGTCTGGGCGTCCTTCCAGGCCACTAATGAGGGCACAAGGTCCTAGAGACATTAGGTCC ACATGAATAGCAGAACTGACTTTGAAGGAAGGAAGCGTTGTTTCCCAAGTTTCACAATGTGATTGTACATGACTTCTGAAATTAAAAAGA |
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FusionGenePPI for KLHDC4_CA5A |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
KLHDC4 | TERF1, KDM1A, SUV39H1, SUV39H2, CEP76, SHMT2, MOV10, NXF1, CROT, RPS19 | CA5A | LMNA, TUBB3, PMPCA, SIRT3 |
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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 KLHDC4_CA5A |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | CA5A | P35218 | DB01194 | Brinzolamide | Carbonic anhydrase 5A, mitochondrial | small molecule | approved |
Tgene | CA5A | P35218 | DB00909 | Zonisamide | Carbonic anhydrase 5A, mitochondrial | small molecule | approved|investigational |
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RelatedDiseases for KLHDC4_CA5A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CA5A | C3810404 | CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO | 1 | ORPHANET;UNIPROT |