	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 18241

FusionGeneSummary for KCNAB2_KIF1B

Fusion gene summary

Fusion gene information	Fusion gene name: KCNAB2_KIF1B
	Fusion gene ID: 18241
		Hgene	Tgene
	Gene symbol	KCNAB2	KIF1B
	Gene ID	8514	23095
	Gene name	potassium voltage-gated channel subfamily A regulatory beta subunit 2	kinesin family member 1B
	Synonyms	AKR6A5\|HKvbeta2\|HKvbeta2.1\|HKvbeta2.2\|KCNA2B\|KV-BETA-2	CMT2\|CMT2A\|CMT2A1\|HMSNII\|KLP\|NBLST1
	Cytomap	1p36.31	1p36.22
	Type of gene	protein-coding	protein-coding
	Description	voltage-gated potassium channel subunit beta-2K(+) channel subunit beta-2potassium channel, voltage gated subfamily A regulatory beta subunit 2potassium voltage-gated channel, shaker-related subfamily, beta member 2	kinesin-like protein KIF1Bkinesin superfamily protein KIF1B
	Modification date	20180519	20180523
	UniProtAcc	Q13303	O60333
	Ensembl transtripts involved in fusion gene	ENST00000378097, ENST00000352527, ENST00000341524, ENST00000164247, ENST00000378083, ENST00000378111, ENST00000378092, ENST00000602612, ENST00000378087, ENST00000459822, ENST00000458166,	ENST00000377093, ENST00000263934, ENST00000377086, ENST00000377083, ENST00000377081, ENST00000465635,
Fusion gene scores	* DoF score	5 X 4 X 4=80	7 X 7 X 6=294
	# samples	6	8
	** MAII score	log2(6/80*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/294*10)=-1.877744249949 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: KCNAB2 [Title/Abstract] AND KIF1B [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
Hgene	KCNAB2	GO:1901379	regulation of potassium ion transmembrane transport	7649300

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	LGG	TCGA-DU-6395-01A	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+

* 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
5UTR-3CDS	ENST00000378097	ENST00000377093	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
5UTR-3CDS	ENST00000378097	ENST00000263934	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
5UTR-3CDS	ENST00000378097	ENST00000377086	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
5UTR-3CDS	ENST00000378097	ENST00000377083	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
5UTR-3CDS	ENST00000378097	ENST00000377081	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
5UTR-intron	ENST00000378097	ENST00000465635	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000352527	ENST00000377093	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000352527	ENST00000263934	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000352527	ENST00000377086	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000352527	ENST00000377083	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000352527	ENST00000377081	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-intron	ENST00000352527	ENST00000465635	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000341524	ENST00000377093	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000341524	ENST00000263934	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000341524	ENST00000377086	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000341524	ENST00000377083	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000341524	ENST00000377081	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-intron	ENST00000341524	ENST00000465635	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000164247	ENST00000377093	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000164247	ENST00000263934	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000164247	ENST00000377086	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000164247	ENST00000377083	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000164247	ENST00000377081	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-intron	ENST00000164247	ENST00000465635	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378083	ENST00000377093	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378083	ENST00000263934	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378083	ENST00000377086	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378083	ENST00000377083	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378083	ENST00000377081	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-intron	ENST00000378083	ENST00000465635	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378111	ENST00000377093	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378111	ENST00000263934	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378111	ENST00000377086	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378111	ENST00000377083	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378111	ENST00000377081	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-intron	ENST00000378111	ENST00000465635	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
5UTR-3CDS	ENST00000378092	ENST00000377093	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
5UTR-3CDS	ENST00000378092	ENST00000263934	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
5UTR-3CDS	ENST00000378092	ENST00000377086	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
5UTR-3CDS	ENST00000378092	ENST00000377083	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
5UTR-3CDS	ENST00000378092	ENST00000377081	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
5UTR-intron	ENST00000378092	ENST00000465635	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000602612	ENST00000377093	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000602612	ENST00000263934	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000602612	ENST00000377086	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000602612	ENST00000377083	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000602612	ENST00000377081	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-intron	ENST00000602612	ENST00000465635	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378087	ENST00000377093	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378087	ENST00000263934	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378087	ENST00000377086	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378087	ENST00000377083	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000378087	ENST00000377081	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-intron	ENST00000378087	ENST00000465635	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000459822	ENST00000377093	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000459822	ENST00000263934	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000459822	ENST00000377086	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000459822	ENST00000377083	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000459822	ENST00000377081	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-intron	ENST00000459822	ENST00000465635	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000458166	ENST00000377093	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000458166	ENST00000263934	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000458166	ENST00000377086	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000458166	ENST00000377083	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-3CDS	ENST00000458166	ENST00000377081	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+
intron-intron	ENST00000458166	ENST00000465635	KCNAB2	chr1	6052848	+	KIF1B	chr1	10316305	+

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FusionProtFeatures for KCNAB2_KIF1B

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

Hgene	Tgene
KCNAB2 Q13303	KIF1B O60333

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

- 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 KCNAB2_KIF1B

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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for KCNAB2_KIF1B

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
KCNAB2	KCNA2, NEDD4, NEDD4L, ATXN1, RPA1, RPA2, RPA3, KCNA5, KCNA4, SIRT1, KCNAB2, HAO1, KCNAB1, GAPVD1, CCAR2, KCNA6, KCNAB3, ATIC, ALDOA, PREP, NUTF2, GRIA2, NASP, SNX3, ZNF281, MRPL50, BCOR, BAG6, TNNC2, KCNA10	KIF1B	BRCA1, STARD13, EEF1A1, GIPC1, YWHAG, CALM1, ELAVL1, KIAA0368, YWHAE, APP, PIK3C3, YWHAB, C18orf25, SEC24A, SIAH1, TRAK2, PSMC3, NINL, CSNK2A2, MAGEA1, UBE2I, YWHAH, RBM7, PARD6A, THOC2, SMC6, VPS26B, ZSCAN26, KIF1A, BIN2, CETN1, KIAA1279, VPS33B, VIPAS39, GOPC, PLOD1, PDF, PPP4R1, CAV3, TULP2, EIF4A1, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, CGN, DENND1A, SH3PXD2A, SRGAP2, RTKN, MAST3, EIF4E2, CBY1

- 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 KCNAB2_KIF1B

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

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RelatedDiseases for KCNAB2_KIF1B

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	KCNAB2	C0014544	Epilepsy	1	CTD_human;HPO
Tgene	KIF1B	C0026769	Multiple Sclerosis	1	CTD_human
Tgene	KIF1B	C1861678	Charcot-Marie-Tooth Disease, Axonal, Type 2a1	1	CTD_human;ORPHANET;UNIPROT

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Fusion gene ID: 18241

FusionGeneSummary for KCNAB2_KIF1B

FusionProtFeatures for KCNAB2_KIF1B

FusionGeneSequence for KCNAB2_KIF1B

FusionGenePPI for KCNAB2_KIF1B

RelatedDrugs for KCNAB2_KIF1B

RelatedDiseases for KCNAB2_KIF1B