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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 19004

FusionGeneSummary for KLHDC4_CA5A

check button Fusion gene summary
Fusion gene informationFusion gene name: KLHDC4_CA5A
Fusion gene ID: 19004
HgeneTgene
Gene symbol

KLHDC4

CA5A

Gene ID

54758

763

Gene namekelch domain containing 4carbonic anhydrase 5A
Synonyms-CA5|CA5AD|CAV|CAVA|GS1-21A4.1
Cytomap

16q24.2

16q24.2

Type of geneprotein-codingprotein-coding
Descriptionkelch domain-containing protein 4carbonic anhydrase 5A, mitochondrialCA-VAcarbonate dehydratase VAcarbonic anhydrase V, mitochondrialcarbonic anhydrase VA, mitochondrialcarbonic dehydratase
Modification date2018051920180522
UniProtAcc

Q8TBB5

P35218

Ensembl transtripts involved in fusion geneENST00000353170, ENST00000347925, 
ENST00000566349, ENST00000270583, 
ENST00000309893, ENST00000568801, 
Fusion gene scores* DoF score4 X 3 X 4=481 X 1 X 1=1
# samples 41
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVHNSCTCGA-BA-A4II-01AKLHDC4chr16

87799398

-CA5Achr16

87936126

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000353170ENST00000309893KLHDC4chr16

87799398

-CA5Achr16

87936126

-
5CDS-intronENST00000353170ENST00000568801KLHDC4chr16

87799398

-CA5Achr16

87936126

-
In-frameENST00000347925ENST00000309893KLHDC4chr16

87799398

-CA5Achr16

87936126

-
5CDS-intronENST00000347925ENST00000568801KLHDC4chr16

87799398

-CA5Achr16

87936126

-
intron-3CDSENST00000566349ENST00000309893KLHDC4chr16

87799398

-CA5Achr16

87936126

-
intron-intronENST00000566349ENST00000568801KLHDC4chr16

87799398

-CA5Achr16

87936126

-
In-frameENST00000270583ENST00000309893KLHDC4chr16

87799398

-CA5Achr16

87936126

-
5CDS-intronENST00000270583ENST00000568801KLHDC4chr16

87799398

-CA5Achr16

87936126

-

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FusionProtFeatures for KLHDC4_CA5A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KLHDC4

Q8TBB5

CA5A

P35218

Reversible hydration of carbon dioxide. Low activity.

check buttonRetention 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

download page

.

* 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.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCA5Achr16:87799398chr16:87936126ENST00000309893-27235_236153306RegionSubstrate binding

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000270583-112133_18733564RepeatNote=Kelch 2
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000270583-112188_24133564RepeatNote=Kelch 3
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000270583-112243_28933564RepeatNote=Kelch 4
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000270583-112308_36133564RepeatNote=Kelch 5
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000270583-112443_49433564RepeatNote=Kelch 6
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000270583-11277_12933564RepeatNote=Kelch 1
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000347925-111133_18733524RepeatNote=Kelch 2
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000347925-111188_24133524RepeatNote=Kelch 3
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000347925-111243_28933524RepeatNote=Kelch 4
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000347925-111308_36133524RepeatNote=Kelch 5
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000347925-111443_49433524RepeatNote=Kelch 6
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000347925-11177_12933524RepeatNote=Kelch 1
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000353170-110133_18733521RepeatNote=Kelch 2
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000353170-110188_24133521RepeatNote=Kelch 3
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000353170-110243_28933521RepeatNote=Kelch 4
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000353170-110308_36133521RepeatNote=Kelch 5
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000353170-110443_49433521RepeatNote=Kelch 6
HgeneKLHDC4chr16:87799398chr16:87936126ENST00000353170-11077_12933521RepeatNote=Kelch 1
TgeneCA5Achr16:87799398chr16:87936126ENST00000309893-2739_296153306DomainAlpha-carbonic anhydrase


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FusionGeneSequence for KLHDC4_CA5A


check button 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_KLHDC4_ENST00000353170_chr16_87799398_-_CA5A_ENST00000309893_chr16_87936126_-_186aa
MGKKGKKEKKGRGAEKTAAKMEKKVSKRSRKEELHLVHWNSVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARA
AMRPFDPSTLLPTCWDYWTYAGSLTTPPLTESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNTRPLQPLMNRKVWASFQATN

>In-frame_KLHDC4_ENST00000347925_chr16_87799398_-_CA5A_ENST00000309893_chr16_87936126_-_186aa
MGKKGKKEKKGRGAEKTAAKMEKKVSKRSRKEELHLVHWNSVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARA
AMRPFDPSTLLPTCWDYWTYAGSLTTPPLTESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNTRPLQPLMNRKVWASFQATN

>In-frame_KLHDC4_ENST00000270583_chr16_87799398_-_CA5A_ENST00000309893_chr16_87936126_-_186aa
MGKKGKKEKKGRGAEKTAAKMEKKVSKRSRKEELHLVHWNSVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARA
AMRPFDPSTLLPTCWDYWTYAGSLTTPPLTESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNTRPLQPLMNRKVWASFQATN


* 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
KLHDC4TERF1, KDM1A, SUV39H1, SUV39H2, CEP76, SHMT2, MOV10, NXF1, CROT, RPS19CA5ALMNA, TUBB3, PMPCA, SIRT3


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for KLHDC4_CA5A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCA5AP35218DB01194BrinzolamideCarbonic anhydrase 5A, mitochondrialsmall moleculeapproved
TgeneCA5AP35218DB00909ZonisamideCarbonic anhydrase 5A, mitochondrialsmall moleculeapproved|investigational

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RelatedDiseases for KLHDC4_CA5A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCA5AC3810404CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO1ORPHANET;UNIPROT