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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: 18960

FusionGeneSummary for KLC1_ALK

check button Fusion gene summary
Fusion gene informationFusion gene name: KLC1_ALK
Fusion gene ID: 18960
HgeneTgene
Gene symbol

KLC1

ALK

Gene ID

3831

238

Gene namekinesin light chain 1ALK receptor tyrosine kinase
SynonymsKLC|KNS2|KNS2ACD246|NBLST3
Cytomap

14q32.33

2p23.2-p23.1

Type of geneprotein-codingprotein-coding
Descriptionkinesin light chain 1kinesin 2 60/70kDamedulloblastoma antigen MU-MB-2.50ALK tyrosine kinase receptorCD246 antigenanaplastic lymphoma receptor tyrosine kinasemutant anaplastic lymphoma kinase
Modification date2018052220180527
UniProtAcc

Q07866

Q9UM73

Ensembl transtripts involved in fusion geneENST00000348520, ENST00000380038, 
ENST00000389744, ENST00000557575, 
ENST00000553286, ENST00000347839, 
ENST00000555836, ENST00000334553, 
ENST00000246489, ENST00000557450, 
ENST00000554280, ENST00000452929, 
ENST00000445352, 		ENST00000389048, 
ENST00000431873, ENST00000498037, 
Fusion gene scores* DoF score6 X 9 X 5=27024 X 23 X 10=5520
# samples 1346
** MAII scorelog2(13/270*10)=-1.05444778402238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(46/5520*10)=-3.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KLC1 [Title/Abstract] AND ALK [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Kinase involved fusion gene, inframe and retained kinase domain.
* 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
TgeneALK

GO:0016310

phosphorylation

9174053

TgeneALK

GO:0046777

protein autophosphorylation

9174053


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
ChiTaRS3.1AB781674KLC1chr14

104139768

+ALKchr2

29446395

-
* 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-frameENST00000348520ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000348520ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000348520ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-
In-frameENST00000380038ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000380038ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000380038ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-
In-frameENST00000389744ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000389744ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000389744ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-
In-frameENST00000557575ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000557575ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000557575ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-
In-frameENST00000553286ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000553286ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000553286ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-
In-frameENST00000347839ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000347839ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000347839ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-
In-frameENST00000555836ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000555836ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000555836ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-
In-frameENST00000334553ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000334553ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000334553ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-
In-frameENST00000246489ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000246489ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000246489ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-
In-frameENST00000557450ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000557450ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000557450ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-
In-frameENST00000554280ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000554280ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000554280ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-
In-frameENST00000452929ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000452929ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000452929ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-
In-frameENST00000445352ENST00000389048KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000445352ENST00000431873KLC1chr14

104139768

+ALKchr2

29446395

-
5CDS-intronENST00000445352ENST00000498037KLC1chr14

104139768

+ALKchr2

29446395

-

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FusionProtFeatures for KLC1_ALK


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KLC1

Q07866

ALK

Q9UM73

Neuronal receptor tyrosine kinase that is essentiallyand transiently expressed in specific regions of the central andperipheral nervous systems and plays an important role in thegenesis and differentiation of the nervous system. Transducessignals from ligands at the cell surface, through specificactivation of the mitogen-activated protein kinase (MAPK) pathway.Phosphorylates almost exclusively at the first tyrosine of the Y-x-x-x-Y-Y motif. Following activation by ligand, ALK inducestyrosine phosphorylation of CBL, FRS2, IRS1 and SHC1, as well asof the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Acts as a receptorfor ligands pleiotrophin (PTN), a secreted growth factor, andmidkine (MDK), a PTN-related factor, thus participating in PTN andMDK signal transduction. PTN-binding induces MAPK pathwayactivation, which is important for the anti-apoptotic signaling ofPTN and regulation of cell proliferation. MDK-binding inducesphosphorylation of the ALK target insulin receptor substrate(IRS1), activates mitogen-activated protein kinases (MAPKs) andPI3-kinase, resulting also in cell proliferation induction. DrivesNF-kappa-B activation, probably through IRS1 and the activation ofthe AKT serine/threonine kinase. Recruitment of IRS1 to activatedALK and the activation of NF-kappa-B are essential for theautocrine growth and survival signaling of MDK.{ECO:0000269|PubMed:11121404, ECO:0000269|PubMed:11278720,ECO:0000269|PubMed:11387242, ECO:0000269|PubMed:11809760,ECO:0000269|PubMed:12107166, ECO:0000269|PubMed:12122009,ECO:0000269|PubMed:15226403, ECO:0000269|PubMed:15908427,ECO:0000269|PubMed:16317043, ECO:0000269|PubMed:16878150,ECO:0000269|PubMed:17274988}.

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
HgeneKLC1chr14:104139768chr2:29446395ENST00000246489+91627_156420638Coiled coil.
HgeneKLC1chr14:104139768chr2:29446395ENST00000334553+91727_156420668Coiled coil.
HgeneKLC1chr14:104139768chr2:29446395ENST00000347839+91627_156420629Coiled coil.
HgeneKLC1chr14:104139768chr2:29446395ENST00000348520+91527_156420585Coiled coil.
HgeneKLC1chr14:104139768chr2:29446395ENST00000389744+91527_156420898Coiled coil.
HgeneKLC1chr14:104139768chr2:29446395ENST00000452929+91627_156420619Coiled coil.
HgeneKLC1chr14:104139768chr2:29446395ENST00000553286+91427_156420561Coiled coil.
HgeneKLC1chr14:104139768chr2:29446395ENST00000557450+91527_156420585Coiled coil.
HgeneKLC1chr14:104139768chr2:29446395ENST00000246489+916213_246420638RepeatNote=TPR 1
HgeneKLC1chr14:104139768chr2:29446395ENST00000246489+916255_288420638RepeatNote=TPR 2
HgeneKLC1chr14:104139768chr2:29446395ENST00000246489+916297_330420638RepeatNote=TPR 3
HgeneKLC1chr14:104139768chr2:29446395ENST00000246489+916339_372420638RepeatNote=TPR 4
HgeneKLC1chr14:104139768chr2:29446395ENST00000246489+916381_414420638RepeatNote=TPR 5
HgeneKLC1chr14:104139768chr2:29446395ENST00000334553+917213_246420668RepeatNote=TPR 1
HgeneKLC1chr14:104139768chr2:29446395ENST00000334553+917255_288420668RepeatNote=TPR 2
HgeneKLC1chr14:104139768chr2:29446395ENST00000334553+917297_330420668RepeatNote=TPR 3
HgeneKLC1chr14:104139768chr2:29446395ENST00000334553+917339_372420668RepeatNote=TPR 4
HgeneKLC1chr14:104139768chr2:29446395ENST00000334553+917381_414420668RepeatNote=TPR 5
HgeneKLC1chr14:104139768chr2:29446395ENST00000347839+916213_246420629RepeatNote=TPR 1
HgeneKLC1chr14:104139768chr2:29446395ENST00000347839+916255_288420629RepeatNote=TPR 2
HgeneKLC1chr14:104139768chr2:29446395ENST00000347839+916297_330420629RepeatNote=TPR 3
HgeneKLC1chr14:104139768chr2:29446395ENST00000347839+916339_372420629RepeatNote=TPR 4
HgeneKLC1chr14:104139768chr2:29446395ENST00000347839+916381_414420629RepeatNote=TPR 5
HgeneKLC1chr14:104139768chr2:29446395ENST00000348520+915213_246420585RepeatNote=TPR 1
HgeneKLC1chr14:104139768chr2:29446395ENST00000348520+915255_288420585RepeatNote=TPR 2
HgeneKLC1chr14:104139768chr2:29446395ENST00000348520+915297_330420585RepeatNote=TPR 3
HgeneKLC1chr14:104139768chr2:29446395ENST00000348520+915339_372420585RepeatNote=TPR 4
HgeneKLC1chr14:104139768chr2:29446395ENST00000348520+915381_414420585RepeatNote=TPR 5
HgeneKLC1chr14:104139768chr2:29446395ENST00000389744+915213_246420898RepeatNote=TPR 1
HgeneKLC1chr14:104139768chr2:29446395ENST00000389744+915255_288420898RepeatNote=TPR 2
HgeneKLC1chr14:104139768chr2:29446395ENST00000389744+915297_330420898RepeatNote=TPR 3
HgeneKLC1chr14:104139768chr2:29446395ENST00000389744+915339_372420898RepeatNote=TPR 4
HgeneKLC1chr14:104139768chr2:29446395ENST00000389744+915381_414420898RepeatNote=TPR 5
HgeneKLC1chr14:104139768chr2:29446395ENST00000452929+916213_246420619RepeatNote=TPR 1
HgeneKLC1chr14:104139768chr2:29446395ENST00000452929+916255_288420619RepeatNote=TPR 2
HgeneKLC1chr14:104139768chr2:29446395ENST00000452929+916297_330420619RepeatNote=TPR 3
HgeneKLC1chr14:104139768chr2:29446395ENST00000452929+916339_372420619RepeatNote=TPR 4
HgeneKLC1chr14:104139768chr2:29446395ENST00000452929+916381_414420619RepeatNote=TPR 5
HgeneKLC1chr14:104139768chr2:29446395ENST00000553286+914213_246420561RepeatNote=TPR 1
HgeneKLC1chr14:104139768chr2:29446395ENST00000553286+914255_288420561RepeatNote=TPR 2
HgeneKLC1chr14:104139768chr2:29446395ENST00000553286+914297_330420561RepeatNote=TPR 3
HgeneKLC1chr14:104139768chr2:29446395ENST00000553286+914339_372420561RepeatNote=TPR 4
HgeneKLC1chr14:104139768chr2:29446395ENST00000553286+914381_414420561RepeatNote=TPR 5
HgeneKLC1chr14:104139768chr2:29446395ENST00000557450+915213_246420585RepeatNote=TPR 1
HgeneKLC1chr14:104139768chr2:29446395ENST00000557450+915255_288420585RepeatNote=TPR 2
HgeneKLC1chr14:104139768chr2:29446395ENST00000557450+915297_330420585RepeatNote=TPR 3
HgeneKLC1chr14:104139768chr2:29446395ENST00000557450+915339_372420585RepeatNote=TPR 4
HgeneKLC1chr14:104139768chr2:29446395ENST00000557450+915381_414420585RepeatNote=TPR 5
TgeneALKchr14:104139768chr2:29446395ENST00000389048-18291116_139210571621DomainProtein kinase
TgeneALKchr14:104139768chr2:29446395ENST00000389048-18291197_119910571621RegionNote=Inhibitor binding
TgeneALKchr14:104139768chr2:29446395ENST00000389048-18291060_162010571621Topological domainCytoplasmic

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKLC1chr14:104139768chr2:29446395ENST00000246489+916464_497420638RepeatNote=TPR 6
HgeneKLC1chr14:104139768chr2:29446395ENST00000334553+917464_497420668RepeatNote=TPR 6
HgeneKLC1chr14:104139768chr2:29446395ENST00000347839+916464_497420629RepeatNote=TPR 6
HgeneKLC1chr14:104139768chr2:29446395ENST00000348520+915464_497420585RepeatNote=TPR 6
HgeneKLC1chr14:104139768chr2:29446395ENST00000389744+915464_497420898RepeatNote=TPR 6
HgeneKLC1chr14:104139768chr2:29446395ENST00000452929+916464_497420619RepeatNote=TPR 6
HgeneKLC1chr14:104139768chr2:29446395ENST00000553286+914464_497420561RepeatNote=TPR 6
HgeneKLC1chr14:104139768chr2:29446395ENST00000557450+915464_497420585RepeatNote=TPR 6
TgeneALKchr14:104139768chr2:29446395ENST00000389048-1829816_94010571621Compositional biasNote=Gly-rich
TgeneALKchr14:104139768chr2:29446395ENST00000389048-1829264_42710571621DomainMAM 1
TgeneALKchr14:104139768chr2:29446395ENST00000389048-1829437_47310571621DomainNote=LDL-receptor class A
TgeneALKchr14:104139768chr2:29446395ENST00000389048-1829478_63610571621DomainMAM 2
TgeneALKchr14:104139768chr2:29446395ENST00000389048-182919_103810571621Topological domainExtracellular
TgeneALKchr14:104139768chr2:29446395ENST00000389048-18291039_105910571621TransmembraneHelical


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FusionGeneSequence for KLC1_ALK


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.

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

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for KLC1_ALK


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
KLC1MAPK8IP3, YWHAG, YWHAB, YWHAZ, SFN, LRSAM1, KIF5B, KIF5C, KIF5A, APP, MAPK6, SNCA, KLC2, KLC4, SKP1, BSDC1, FAM63B, LDLRAP1, PRKAG3, RASSF8, RIC3, YWHAE, ARCN1, COPB1, COPZ1, DIAPH1, TLE3, PTPN23, SMEK2, BNIP2, KRT31, CCDC114, EZH2, TRAK2, SYNE4, DTNBP1, KPTN, AZIN1, TRIP6, USP7, HSPB1, NTRK1, OFD1, FGFR1OP, CLK1, CSNK1D, RAP1B, SORT1, KLC3, POLR2C, PIAS1, NOLC1, RAB11FIP2, AVL9, ORC3, RBFOX1, RAB11FIP1, CEP44, DPY30, ZNF503, COG6, KIF2B, MYCL, ARHGAP17, SNAPIN, EXOC3, TRPC4AP, RABEP2, USF1, CCDC83, CBY1, TRIM25ALKPTN, SHC1, PLCG1, JAK3, SHC3, RAB35, HSPD1, MAP3K4, GRB2, SOCS1, PIK3CB, RAD17, IRF7, EPHB2, EIF4B, MAPK8IP3, CENPF, PLCB2, PDX1, STAT3, MAP2K7, JAK2, MAP3K5, MEP1B, GAK, EPHA1, UBASH3A, MTIF2, MYLK, MAP3K1, MAPK1, SOCS5, CDK13, SMC6, IRS4, KRT18, KRT74, IRS1, IKBKG, ZC3HC1, TNK2, ERRFI1, PIK3R1, HSP90AA1, BCAR1, ACTB, PDLIM3, VIM, TUBB4B, MYO6, MYH10, MYH9, TUBGCP2, ACTN4, CORO1C, FLII, BICD2, GNB2L1, SRC, PXN, PRKCQ, MYBPC2, CDK9, PPM1A, DUSP19


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 KLC1_ALK


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneALKQ9UM73DB08865CrizotinibALK tyrosine kinase receptorsmall moleculeapproved
TgeneALKQ9UM73DB09063CeritinibALK tyrosine kinase receptorsmall moleculeapproved

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RelatedDiseases for KLC1_ALK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneALKC0007131Non-Small Cell Lung Carcinoma28CTD_human
TgeneALKC0027819Neuroblastoma12CTD_human;ORPHANET
TgeneALKC0152013Adenocarcinoma of lung (disorder)8CTD_human
TgeneALKC0206180Ki-1+ Anaplastic Large Cell Lymphoma6CTD_human
TgeneALKC2751681NEUROBLASTOMA, SUSCEPTIBILITY TO, 34UNIPROT
TgeneALKC0018199Granuloma, Plasma Cell3CTD_human
TgeneALKC0007621Neoplastic Cell Transformation2CTD_human
TgeneALKC0027627Neoplasm Metastasis2CTD_human
TgeneALKC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneALKC0006118Brain Neoplasms1CTD_human
TgeneALKC0007134Renal Cell Carcinoma1CTD_human
TgeneALKC0011570Mental Depression1PSYGENET
TgeneALKC0011581Depressive disorder1PSYGENET
TgeneALKC0027643Neoplasm Recurrence, Local1CTD_human
TgeneALKC0036341Schizophrenia1PSYGENET
TgeneALKC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneALKC0085269Plasma Cell Granuloma, Pulmonary1CTD_human
TgeneALKC0278601Inflammatory Breast Carcinoma1CTD_human