	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
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Fusion gene ID: 19004

FusionGeneSummary for KLHDC4_CA5A

Fusion gene summary

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)

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	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

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	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

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
KLHDC4 Q8TBB5	CA5A P35218
	Reversible hydration of carbon dioxide. Low activity.

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
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.

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

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

133_187

564

Repeat

Note=Kelch 2

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000270583

188_241

564

Repeat

Note=Kelch 3

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000270583

243_289

564

Repeat

Note=Kelch 4

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000270583

308_361

564

Repeat

Note=Kelch 5

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000270583

443_494

564

Repeat

Note=Kelch 6

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000270583

77_129

564

Repeat

Note=Kelch 1

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000347925

133_187

524

Repeat

Note=Kelch 2

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000347925

188_241

524

Repeat

Note=Kelch 3

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000347925

243_289

524

Repeat

Note=Kelch 4

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000347925

308_361

524

Repeat

Note=Kelch 5

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000347925

443_494

524

Repeat

Note=Kelch 6

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000347925

77_129

524

Repeat

Note=Kelch 1

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000353170

133_187

521

Repeat

Note=Kelch 2

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000353170

188_241

521

Repeat

Note=Kelch 3

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000353170

243_289

521

Repeat

Note=Kelch 4

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000353170

308_361

521

Repeat

Note=Kelch 5

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000353170

443_494

521

Repeat

Note=Kelch 6

Hgene

KLHDC4

chr16:87799398

chr16:87936126

ENST00000353170

77_129

521

Repeat

Note=Kelch 1

Tgene

CA5A

chr16:87799398

chr16:87936126

ENST00000309893

39_296

153

306

Domain

Alpha-carbonic anhydrase

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FusionGeneSequence for KLHDC4_CA5A

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
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

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
KLHDC4	TERF1, KDM1A, SUV39H1, SUV39H2, CEP76, SHMT2, MOV10, NXF1, CROT, RPS19	CA5A	LMNA, TUBB3, PMPCA, SIRT3

- 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 KLHDC4_CA5A

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	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

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	CA5A	C3810404	CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	1	ORPHANET;UNIPROT

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Fusion gene ID: 19004

FusionGeneSummary for KLHDC4_CA5A

FusionProtFeatures for KLHDC4_CA5A

FusionGeneSequence for KLHDC4_CA5A

FusionGenePPI for KLHDC4_CA5A

RelatedDrugs for KLHDC4_CA5A

RelatedDiseases for KLHDC4_CA5A