UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY

Home

Download

Statistics

Examples

Help

Contact

level1

	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:KCNK5-RUNX2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: KCNK5-RUNX2
	FusionPDB ID: 41475
	FusionGDB2.0 ID: 41475
		Hgene	Tgene
	Gene symbol	KCNK5	RUNX2
	Gene ID	8645	860
	Gene name	potassium two pore domain channel subfamily K member 5	RUNX family transcription factor 2
	Synonyms	K2p5.1\|KCNK5b\|TASK-2\|TASK2	AML3\|CBF-alpha-1\|CBFA1\|CCD\|CCD1\|CLCD\|OSF-2\|OSF2\|PEA2aA\|PEBP2aA
	Cytomap	6p21.2	6p21.1
	Type of gene	protein-coding	protein-coding
	Description	potassium channel subfamily K member 5K2P5.1 potassium channelTWIK-related acid-sensitive K(+) channel 2TWIK-related acid-sensitive K+ 2TWIK-related acid-sensitive K+ channel 2acid-sensitive potassium channel protein TASK-2potassium channel, subfami	runt-related transcription factor 2PEA2-alpha APEBP2-alpha ASL3-3 enhancer factor 1 alpha A subunitSL3/AKV core-binding factor alpha A subunitacute myeloid leukemia 3 proteincore-binding factor, runt domain, alpha subunit 1oncogene AML-3osteoblast
	Modification date	20200313	20200322
	UniProtAcc	O95279	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000359534,	ENST00000483243, ENST00000352853, ENST00000359524, ENST00000371432, ENST00000371436, ENST00000371438, ENST00000465038, ENST00000541979, ENST00000576263,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	3 X 2 X 3=18	6 X 6 X 4=144
	# samples	3	6
	** MAII score	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: KCNK5 [Title/Abstract] AND RUNX2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	KCNK5(39161945)-RUNX2(45479983), # samples:2
Anticipated loss of major functional domain due to fusion event.	KCNK5-RUNX2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. KCNK5-RUNX2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. KCNK5-RUNX2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. KCNK5-RUNX2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.

* 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
Tgene	RUNX2	GO:0045892	negative regulation of transcription, DNA-templated	11965546
Tgene	RUNX2	GO:0045893	positive regulation of transcription, DNA-templated	11965546

Fusion gene breakpoints across KCNK5 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across RUNX2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Top

Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	KIRP	TCGA-B9-A69E-01A	KCNK5	chr6	39161945	-	RUNX2	chr6	45479983	+

Top

Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000359534	KCNK5	chr6	39161945	-	ENST00000541979	RUNX2	chr6	45479983	+	1614	973	339	1613	424
ENST00000359534	KCNK5	chr6	39161945	-	ENST00000465038	RUNX2	chr6	45479983	+	1680	973	339	1679	446
ENST00000359534	KCNK5	chr6	39161945	-	ENST00000352853	RUNX2	chr6	45479983	+	1680	973	339	1679	446
ENST00000359534	KCNK5	chr6	39161945	-	ENST00000371438	RUNX2	chr6	45479983	+	5454	973	339	1679	446
ENST00000359534	KCNK5	chr6	39161945	-	ENST00000371436	RUNX2	chr6	45479983	+	1702	973	339	1613	424
ENST00000359534	KCNK5	chr6	39161945	-	ENST00000576263	RUNX2	chr6	45479983	+	2370	973	339	1742	467
ENST00000359534	KCNK5	chr6	39161945	-	ENST00000371432	RUNX2	chr6	45479983	+	5390	973	339	1613	424
ENST00000359534	KCNK5	chr6	39161945	-	ENST00000359524	RUNX2	chr6	45479983	+	5454	973	339	1679	446

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000359534	ENST00000541979	KCNK5	chr6	39161945	-	RUNX2	chr6	45479983	+	0.010393424	0.98960656
ENST00000359534	ENST00000465038	KCNK5	chr6	39161945	-	RUNX2	chr6	45479983	+	0.014193473	0.9858065
ENST00000359534	ENST00000352853	KCNK5	chr6	39161945	-	RUNX2	chr6	45479983	+	0.014193473	0.9858065
ENST00000359534	ENST00000371438	KCNK5	chr6	39161945	-	RUNX2	chr6	45479983	+	0.001327229	0.99867284
ENST00000359534	ENST00000371436	KCNK5	chr6	39161945	-	RUNX2	chr6	45479983	+	0.008585383	0.9914146
ENST00000359534	ENST00000576263	KCNK5	chr6	39161945	-	RUNX2	chr6	45479983	+	0.01708089	0.9829191
ENST00000359534	ENST00000371432	KCNK5	chr6	39161945	-	RUNX2	chr6	45479983	+	0.000909708	0.9990903
ENST00000359534	ENST00000359524	KCNK5	chr6	39161945	-	RUNX2	chr6	45479983	+	0.001327229	0.99867284

Top

Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>41475_41475_1_KCNK5-RUNX2_KCNK5_chr6_39161945_ENST00000359534_RUNX2_chr6_45479983_ENST00000352853_length(amino acids)=446AA_BP=211
MVDRGPLLTSAIIFYLAIGAAIFEVLEEPHWKEAKKNYYTQKLHLLKEFPCLGQEGLDKILEVVSDAAGQGVAITGNQTFNNWNWPNAMI
FAATVITTIGYGNVAPKTPAGRLFCVFYGLFGVPLCLTWISALGKFFGGRAKRLGQFLTKRGVSLRKAQITCTVIFIVWGVLVHLVIPPF
VFMVTEGWNYIEGLYYSFITISTIGFGDFVADPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTA
TSDFCLWPSTLSKKSQAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSG

--------------------------------------------------------------

>41475_41475_2_KCNK5-RUNX2_KCNK5_chr6_39161945_ENST00000359534_RUNX2_chr6_45479983_ENST00000359524_length(amino acids)=446AA_BP=211
MVDRGPLLTSAIIFYLAIGAAIFEVLEEPHWKEAKKNYYTQKLHLLKEFPCLGQEGLDKILEVVSDAAGQGVAITGNQTFNNWNWPNAMI
FAATVITTIGYGNVAPKTPAGRLFCVFYGLFGVPLCLTWISALGKFFGGRAKRLGQFLTKRGVSLRKAQITCTVIFIVWGVLVHLVIPPF
VFMVTEGWNYIEGLYYSFITISTIGFGDFVADPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTA
TSDFCLWPSTLSKKSQAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSG

--------------------------------------------------------------

>41475_41475_3_KCNK5-RUNX2_KCNK5_chr6_39161945_ENST00000359534_RUNX2_chr6_45479983_ENST00000371432_length(amino acids)=424AA_BP=211
MVDRGPLLTSAIIFYLAIGAAIFEVLEEPHWKEAKKNYYTQKLHLLKEFPCLGQEGLDKILEVVSDAAGQGVAITGNQTFNNWNWPNAMI
FAATVITTIGYGNVAPKTPAGRLFCVFYGLFGVPLCLTWISALGKFFGGRAKRLGQFLTKRGVSLRKAQITCTVIFIVWGVLVHLVIPPF
VFMVTEGWNYIEGLYYSFITISTIGFGDFVADPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISGASEL
GPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFP

--------------------------------------------------------------

>41475_41475_4_KCNK5-RUNX2_KCNK5_chr6_39161945_ENST00000359534_RUNX2_chr6_45479983_ENST00000371436_length(amino acids)=424AA_BP=211
MVDRGPLLTSAIIFYLAIGAAIFEVLEEPHWKEAKKNYYTQKLHLLKEFPCLGQEGLDKILEVVSDAAGQGVAITGNQTFNNWNWPNAMI
FAATVITTIGYGNVAPKTPAGRLFCVFYGLFGVPLCLTWISALGKFFGGRAKRLGQFLTKRGVSLRKAQITCTVIFIVWGVLVHLVIPPF
VFMVTEGWNYIEGLYYSFITISTIGFGDFVADPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISGASEL
GPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFP

--------------------------------------------------------------

>41475_41475_5_KCNK5-RUNX2_KCNK5_chr6_39161945_ENST00000359534_RUNX2_chr6_45479983_ENST00000371438_length(amino acids)=446AA_BP=211
MVDRGPLLTSAIIFYLAIGAAIFEVLEEPHWKEAKKNYYTQKLHLLKEFPCLGQEGLDKILEVVSDAAGQGVAITGNQTFNNWNWPNAMI
FAATVITTIGYGNVAPKTPAGRLFCVFYGLFGVPLCLTWISALGKFFGGRAKRLGQFLTKRGVSLRKAQITCTVIFIVWGVLVHLVIPPF
VFMVTEGWNYIEGLYYSFITISTIGFGDFVADPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTA
TSDFCLWPSTLSKKSQAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSG

--------------------------------------------------------------

>41475_41475_6_KCNK5-RUNX2_KCNK5_chr6_39161945_ENST00000359534_RUNX2_chr6_45479983_ENST00000465038_length(amino acids)=446AA_BP=211
MVDRGPLLTSAIIFYLAIGAAIFEVLEEPHWKEAKKNYYTQKLHLLKEFPCLGQEGLDKILEVVSDAAGQGVAITGNQTFNNWNWPNAMI
FAATVITTIGYGNVAPKTPAGRLFCVFYGLFGVPLCLTWISALGKFFGGRAKRLGQFLTKRGVSLRKAQITCTVIFIVWGVLVHLVIPPF
VFMVTEGWNYIEGLYYSFITISTIGFGDFVADPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTA
TSDFCLWPSTLSKKSQAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSG

--------------------------------------------------------------

>41475_41475_7_KCNK5-RUNX2_KCNK5_chr6_39161945_ENST00000359534_RUNX2_chr6_45479983_ENST00000541979_length(amino acids)=424AA_BP=211
MVDRGPLLTSAIIFYLAIGAAIFEVLEEPHWKEAKKNYYTQKLHLLKEFPCLGQEGLDKILEVVSDAAGQGVAITGNQTFNNWNWPNAMI
FAATVITTIGYGNVAPKTPAGRLFCVFYGLFGVPLCLTWISALGKFFGGRAKRLGQFLTKRGVSLRKAQITCTVIFIVWGVLVHLVIPPF
VFMVTEGWNYIEGLYYSFITISTIGFGDFVADPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISGASEL
GPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFP

--------------------------------------------------------------

>41475_41475_8_KCNK5-RUNX2_KCNK5_chr6_39161945_ENST00000359534_RUNX2_chr6_45479983_ENST00000576263_length(amino acids)=467AA_BP=211
MVDRGPLLTSAIIFYLAIGAAIFEVLEEPHWKEAKKNYYTQKLHLLKEFPCLGQEGLDKILEVVSDAAGQGVAITGNQTFNNWNWPNAMI
FAATVITTIGYGNVAPKTPAGRLFCVFYGLFGVPLCLTWISALGKFFGGRAKRLGQFLTKRGVSLRKAQITCTVIFIVWGVLVHLVIPPF
VFMVTEGWNYIEGLYYSFITISTIGFGDFVADPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDSEPS
TLDSQSSTTLFLSSEEPGPSTAALPSPSSSSCEPQAFSPGPPALPPLLPPLPAASAPPGPGASRRTGRYSVVASSPEAAPRLVDWLPGCP
STISPSTRGDDKERPPPVLAPAEGPERSRAPRPSTAGREEGTVDAGTSPPPRARPAAAASLEAHVGDILVELRTMNGHLDSIARALTKLA

--------------------------------------------------------------

Top

Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:39161945/chr6:45479983)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

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

Hgene	Tgene
KCNK5 O95279	.
FUNCTION: pH-dependent, voltage insensitive, outwardly rectifying potassium channel. Outward rectification is lost at high external K(+) concentrations.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.

- 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

KCNK5

chr6:39161945

chr6:45479983

ENST00000359534

85_112

211.33333333333334

500.0

Intramembrane

Pore-forming%3B Name%3DPore-forming 1

Hgene

KCNK5

chr6:39161945

chr6:45479983

ENST00000359534

134_157

211.33333333333334

500.0

Topological domain

Cytoplasmic

Hgene

KCNK5

chr6:39161945

chr6:45479983

ENST00000359534

1_7

211.33333333333334

500.0

Topological domain

Cytoplasmic

Hgene

KCNK5

chr6:39161945

chr6:45479983

ENST00000359534

113_133

211.33333333333334

500.0

Transmembrane

Helical

Hgene

KCNK5

chr6:39161945

chr6:45479983

ENST00000359534

158_180

211.33333333333334

500.0

Transmembrane

Helical

Hgene

KCNK5

chr6:39161945

chr6:45479983

ENST00000359534

8_26

211.33333333333334

500.0

Transmembrane

Helical

- 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

KCNK5

chr6:39161945

chr6:45479983

ENST00000359534

190_215

211.33333333333334

500.0

Intramembrane

Pore-forming%3B Name%3DPore-forming 2

Hgene

KCNK5

chr6:39161945

chr6:45479983

ENST00000359534

251_325

211.33333333333334

500.0

Topological domain

Cytoplasmic

Hgene

KCNK5

chr6:39161945

chr6:45479983

ENST00000359534

230_250

211.33333333333334

500.0

Transmembrane

Helical

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000359524

237_521

272.3333333333333

508.0

Compositional bias

Note=Pro/Ser/Thr-rich

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000359524

49_71

272.3333333333333

508.0

Compositional bias

Note=Poly-Gln

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000359524

73_89

272.3333333333333

508.0

Compositional bias

Note=Poly-Ala

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000371436

237_521

286.3333333333333

500.0

Compositional bias

Note=Pro/Ser/Thr-rich

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000371436

49_71

286.3333333333333

500.0

Compositional bias

Note=Poly-Gln

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000371436

73_89

286.3333333333333

500.0

Compositional bias

Note=Poly-Ala

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000371438

237_521

286.3333333333333

522.0

Compositional bias

Note=Pro/Ser/Thr-rich

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000371438

49_71

286.3333333333333

522.0

Compositional bias

Note=Poly-Gln

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000371438

73_89

286.3333333333333

522.0

Compositional bias

Note=Poly-Ala

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000465038

237_521

286.3333333333333

522.0

Compositional bias

Note=Pro/Ser/Thr-rich

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000465038

49_71

286.3333333333333

522.0

Compositional bias

Note=Poly-Gln

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000465038

73_89

286.3333333333333

522.0

Compositional bias

Note=Poly-Ala

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000359524

101_229

272.3333333333333

508.0

Domain

Runt

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000371436

101_229

286.3333333333333

500.0

Domain

Runt

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000371438

101_229

286.3333333333333

522.0

Domain

Runt

Tgene

RUNX2

chr6:39161945

chr6:45479983

ENST00000465038

101_229

286.3333333333333

522.0

Domain

Runt

Top

Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
KCNK5
RUNX2

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs to KCNK5-RUNX2

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to KCNK5-RUNX2

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source