	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 18831

FusionGeneSummary for KIF1B_EPB41

Fusion gene summary

Fusion gene information	Fusion gene name: KIF1B_EPB41
	Fusion gene ID: 18831
		Hgene	Tgene
	Gene symbol	KIF1B	EPB41
	Gene ID	23095	2035
	Gene name	kinesin family member 1B	erythrocyte membrane protein band 4.1
	Synonyms	CMT2\|CMT2A\|CMT2A1\|HMSNII\|KLP\|NBLST1	4.1R\|EL1\|HE
	Cytomap	1p36.22	1p35.3
	Type of gene	protein-coding	protein-coding
	Description	kinesin-like protein KIF1Bkinesin superfamily protein KIF1B	protein 4.1EPB4.1P4.1band 4.1elliptocytosis 1, RH-linkederythrocyte surface protein band 4.1
	Modification date	20180523	20180523
	UniProtAcc	O60333	P11171
	Ensembl transtripts involved in fusion gene	ENST00000377093, ENST00000263934, ENST00000377086, ENST00000377083, ENST00000377081, ENST00000465635,	ENST00000356093, ENST00000398863, ENST00000343067, ENST00000349460, ENST00000373800, ENST00000347529, ENST00000373798, ENST00000373797, ENST00000460378,
Fusion gene scores	* DoF score	15 X 14 X 11=2310	6 X 7 X 3=126
	# samples	17	8
	** MAII score	log2(17/2310*10)=-3.76428620016572 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/126*10)=-0.655351828612554 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: KIF1B [Title/Abstract] AND EPB41 [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
Tgene	EPB41	GO:0032092	positive regulation of protein binding	3693401

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	LD	GBM	TCGA-06-2565-01A	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+

* 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
intron-5UTR	ENST00000377093	ENST00000356093	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377093	ENST00000398863	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377093	ENST00000343067	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377093	ENST00000349460	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-intron	ENST00000377093	ENST00000373800	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377093	ENST00000347529	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377093	ENST00000373798	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377093	ENST00000373797	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-intron	ENST00000377093	ENST00000460378	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000263934	ENST00000356093	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000263934	ENST00000398863	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000263934	ENST00000343067	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000263934	ENST00000349460	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-intron	ENST00000263934	ENST00000373800	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000263934	ENST00000347529	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000263934	ENST00000373798	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000263934	ENST00000373797	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-intron	ENST00000263934	ENST00000460378	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377086	ENST00000356093	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377086	ENST00000398863	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377086	ENST00000343067	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377086	ENST00000349460	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-intron	ENST00000377086	ENST00000373800	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377086	ENST00000347529	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377086	ENST00000373798	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377086	ENST00000373797	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-intron	ENST00000377086	ENST00000460378	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377083	ENST00000356093	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377083	ENST00000398863	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377083	ENST00000343067	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377083	ENST00000349460	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-intron	ENST00000377083	ENST00000373800	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377083	ENST00000347529	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377083	ENST00000373798	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000377083	ENST00000373797	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-intron	ENST00000377083	ENST00000460378	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377081	ENST00000356093	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377081	ENST00000398863	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377081	ENST00000343067	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377081	ENST00000349460	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-intron	ENST00000377081	ENST00000373800	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377081	ENST00000347529	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377081	ENST00000373798	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-5UTR	ENST00000377081	ENST00000373797	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
5CDS-intron	ENST00000377081	ENST00000460378	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000465635	ENST00000356093	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000465635	ENST00000398863	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000465635	ENST00000343067	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000465635	ENST00000349460	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-intron	ENST00000465635	ENST00000373800	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000465635	ENST00000347529	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000465635	ENST00000373798	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-5UTR	ENST00000465635	ENST00000373797	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+
intron-intron	ENST00000465635	ENST00000460378	KIF1B	chr1	10384120	+	EPB41	chr1	29313943	+

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FusionProtFeatures for KIF1B_EPB41

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

Hgene	Tgene
KIF1B O60333	EPB41 P11171

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 KIF1B_EPB41

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 KIF1B_EPB41

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
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	EPB41	NUMA1, MYH9, CDK2, VARS, PAICS, TAGLN2, ECHS1, CALR, PFAS, DLG1, NPPA, CASK, TJP2, DYNC1H1, DCTN1, SPTAN1, SPTB, CENPJ, KPNA2, EIF3G, FN1, CLNS1A, RWDD2B, ZCCHC10, ABCE1, SF3A1, SF3A3, NTRK1, MED4, CDH1, TRIM25

- 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 KIF1B_EPB41

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 KIF1B_EPB41

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	KIF1B	C0026769	Multiple Sclerosis	1	CTD_human
Hgene	KIF1B	C1861678	Charcot-Marie-Tooth Disease, Axonal, Type 2a1	1	CTD_human;ORPHANET;UNIPROT
Tgene	EPB41	C0025202	melanoma	1	CTD_human

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Fusion gene ID: 18831

FusionGeneSummary for KIF1B_EPB41

FusionProtFeatures for KIF1B_EPB41

FusionGeneSequence for KIF1B_EPB41

FusionGenePPI for KIF1B_EPB41

RelatedDrugs for KIF1B_EPB41

RelatedDiseases for KIF1B_EPB41