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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: 19307

FusionGeneSummary for KTN1_MECP2

check button Fusion gene summary
Fusion gene informationFusion gene name: KTN1_MECP2
Fusion gene ID: 19307
HgeneTgene
Gene symbol

KTN1

MECP2

Gene ID

3895

4204

Gene namekinectin 1methyl-CpG binding protein 2
SynonymsCG1|KNT|MU-RMS-40.19AUTSX3|MRX16|MRX79|MRXS13|MRXSL|PPMX|RS|RTS|RTT
Cytomap

14q22.3

Xq28

Type of geneprotein-codingprotein-coding
DescriptionkinectinCG-1 antigenkinesin receptormethyl-CpG-binding protein 2meCp-2 proteintestis tissue sperm-binding protein Li 41a
Modification date2018052220180527
UniProtAcc

Q86UP2

P51608

Ensembl transtripts involved in fusion geneENST00000395309, ENST00000413890, 
ENST00000438792, ENST00000395314, 
ENST00000395308, ENST00000395311, 
ENST00000416613, ENST00000554507, 
ENST00000555573, 
ENST00000303391, 
ENST00000453960, ENST00000407218, 
ENST00000460227, 
Fusion gene scores* DoF score8 X 9 X 5=3605 X 4 X 3=60
# samples 115
** MAII scorelog2(11/360*10)=-1.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KTN1 [Title/Abstract] AND MECP2 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneMECP2

GO:0010629

negative regulation of gene expression

23960241

TgeneMECP2

GO:0043537

negative regulation of blood vessel endothelial cell migration

23960241

TgeneMECP2

GO:0045892

negative regulation of transcription, DNA-templated

11441023

TgeneMECP2

GO:1905643

positive regulation of DNA methylation

23960241


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
ChiTaRS3.1BF761248KTN1chr14

56078842

-MECP2chrX

153287905

-
* 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
5CDS-3UTRENST00000395309ENST00000303391KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000395309ENST00000453960KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000395309ENST00000407218KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000395309ENST00000460227KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-3UTRENST00000413890ENST00000303391KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000413890ENST00000453960KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000413890ENST00000407218KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000413890ENST00000460227KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-3UTRENST00000438792ENST00000303391KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000438792ENST00000453960KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000438792ENST00000407218KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000438792ENST00000460227KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-3UTRENST00000395314ENST00000303391KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000395314ENST00000453960KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000395314ENST00000407218KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000395314ENST00000460227KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-3UTRENST00000395308ENST00000303391KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000395308ENST00000453960KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000395308ENST00000407218KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000395308ENST00000460227KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-3UTRENST00000395311ENST00000303391KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000395311ENST00000453960KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000395311ENST00000407218KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000395311ENST00000460227KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-3UTRENST00000416613ENST00000303391KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000416613ENST00000453960KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000416613ENST00000407218KTN1chr14

56078842

-MECP2chrX

153287905

-
5CDS-intronENST00000416613ENST00000460227KTN1chr14

56078842

-MECP2chrX

153287905

-
intron-3UTRENST00000554507ENST00000303391KTN1chr14

56078842

-MECP2chrX

153287905

-
intron-intronENST00000554507ENST00000453960KTN1chr14

56078842

-MECP2chrX

153287905

-
intron-intronENST00000554507ENST00000407218KTN1chr14

56078842

-MECP2chrX

153287905

-
intron-intronENST00000554507ENST00000460227KTN1chr14

56078842

-MECP2chrX

153287905

-
intron-3UTRENST00000555573ENST00000303391KTN1chr14

56078842

-MECP2chrX

153287905

-
intron-intronENST00000555573ENST00000453960KTN1chr14

56078842

-MECP2chrX

153287905

-
intron-intronENST00000555573ENST00000407218KTN1chr14

56078842

-MECP2chrX

153287905

-
intron-intronENST00000555573ENST00000460227KTN1chr14

56078842

-MECP2chrX

153287905

-

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FusionProtFeatures for KTN1_MECP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KTN1

Q86UP2

MECP2

P51608

Receptor for kinesin thus involved in kinesin-drivenvesicle motility. Accumulates in integrin-based adhesion complexes(IAC) upon integrin aggregation by fibronectin. Chromosomal protein that binds to methylated DNA. It canbind specifically to a single methyl-CpG pair. It is notinfluenced by sequences flanking the methyl-CpGs. Mediatestranscriptional repression through interaction with histonedeacetylase and the corepressor SIN3A. Binds both 5-methylcytosine(5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with apreference for 5-methylcytosine (5mC).{ECO:0000250|UniProtKB:Q9Z2D6}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for KTN1_MECP2


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 KTN1_MECP2


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


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 KTN1_MECP2


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

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RelatedDiseases for KTN1_MECP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKTN1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneMECP2C0035372Rett Syndrome35CTD_human;ORPHANET;UNIPROT
TgeneMECP2C1968550Mental Retardation, X-Linked, Syndromic 139CTD_human;ORPHANET;UNIPROT
TgeneMECP2C0004352Autistic Disorder3CTD_human;HPO
TgeneMECP2C3714756Intellectual Disability2CTD_human;HPO
TgeneMECP2C0003469Anxiety Disorders1CTD_human
TgeneMECP2C0008073Developmental Disabilities1CTD_human
TgeneMECP2C0008074Child Development Disorders, Pervasive1CTD_human
TgeneMECP2C0023186Learning Disorders1CTD_human
TgeneMECP2C0026827Muscle hypotonia1CTD_human
TgeneMECP2C0027066Myoclonus1CTD_human;HPO
TgeneMECP2C0033922Psychomotor Disorders1CTD_human
TgeneMECP2C0034069Pulmonary Fibrosis1CTD_human
TgeneMECP2C0035229Respiratory Insufficiency1CTD_human;HPO
TgeneMECP2C0036572Seizures1CTD_human;HPO
TgeneMECP2C0236736Cocaine-Related Disorders1CTD_human
TgeneMECP2C0376634Craniofacial Abnormalities1CTD_human
TgeneMECP2C2239176Liver carcinoma1CTD_human