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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: 21434

FusionGeneSummary for MECP2_HCFC1R1

check button Fusion gene summary
Fusion gene informationFusion gene name: MECP2_HCFC1R1
Fusion gene ID: 21434
HgeneTgene
Gene symbol

MECP2

HCFC1R1

Gene ID

4204

54985

Gene namemethyl-CpG binding protein 2host cell factor C1 regulator 1
SynonymsAUTSX3|MRX16|MRX79|MRXS13|MRXSL|PPMX|RS|RTS|RTTHPIP
Cytomap

Xq28

16p13.3

Type of geneprotein-codingprotein-coding
Descriptionmethyl-CpG-binding protein 2meCp-2 proteintestis tissue sperm-binding protein Li 41ahost cell factor C1 regulator 1HCF-1 beta-propeller-interacting proteinhost cell factor C1 regulator 1 (XPO1 dependent)
Modification date2018052720180519
UniProtAcc

P51608

Q9NWW0

Ensembl transtripts involved in fusion geneENST00000303391, ENST00000453960, 
ENST00000407218, ENST00000460227, 
ENST00000248089, ENST00000574151, 
ENST00000396916, ENST00000572355, 
ENST00000574980, ENST00000354679, 
Fusion gene scores* DoF score3 X 3 X 2=184 X 4 X 1=16
# samples 37
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/16*10)=2.12928301694497
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MECP2 [Title/Abstract] AND HCFC1R1 [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
HgeneMECP2

GO:0010629

negative regulation of gene expression

23960241

HgeneMECP2

GO:0043537

negative regulation of blood vessel endothelial cell migration

23960241

HgeneMECP2

GO:0045892

negative regulation of transcription, DNA-templated

11441023

HgeneMECP2

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
ChiTaRS3.1BQ877133MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
* 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
intron-3CDSENST00000303391ENST00000248089MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-3CDSENST00000303391ENST00000574151MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-3CDSENST00000303391ENST00000396916MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-intronENST00000303391ENST00000572355MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-intronENST00000303391ENST00000574980MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-intronENST00000303391ENST00000354679MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-3CDSENST00000453960ENST00000248089MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-3CDSENST00000453960ENST00000574151MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-3CDSENST00000453960ENST00000396916MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-intronENST00000453960ENST00000572355MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-intronENST00000453960ENST00000574980MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-intronENST00000453960ENST00000354679MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-3CDSENST00000407218ENST00000248089MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-3CDSENST00000407218ENST00000574151MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-3CDSENST00000407218ENST00000396916MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-intronENST00000407218ENST00000572355MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-intronENST00000407218ENST00000574980MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-intronENST00000407218ENST00000354679MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-3CDSENST00000460227ENST00000248089MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-3CDSENST00000460227ENST00000574151MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-3CDSENST00000460227ENST00000396916MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-intronENST00000460227ENST00000572355MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-intronENST00000460227ENST00000574980MECP2chrX

153289664

-HCFC1R1chr16

3073898

-
intron-intronENST00000460227ENST00000354679MECP2chrX

153289664

-HCFC1R1chr16

3073898

-

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FusionProtFeatures for MECP2_HCFC1R1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MECP2

P51608

HCFC1R1

Q9NWW0

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}. Regulates HCFC1 activity by modulating its subcellularlocalization. Overexpression of HCFC1R1 leads to accumulation ofHCFC1 in the cytoplasm. HCFC1R1-mediated export may provide thepool of cytoplasmic HCFC1 required for import of virion-derivedVP16 into the nucleus. {ECO:0000269|PubMed:12235138}.

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 MECP2_HCFC1R1


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 MECP2_HCFC1R1


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 MECP2_HCFC1R1


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 MECP2_HCFC1R1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMECP2C0035372Rett Syndrome35CTD_human;ORPHANET;UNIPROT
HgeneMECP2C1968550Mental Retardation, X-Linked, Syndromic 139CTD_human;ORPHANET;UNIPROT
HgeneMECP2C0004352Autistic Disorder3CTD_human;HPO
HgeneMECP2C3714756Intellectual Disability2CTD_human;HPO
HgeneMECP2C0003469Anxiety Disorders1CTD_human
HgeneMECP2C0008073Developmental Disabilities1CTD_human
HgeneMECP2C0008074Child Development Disorders, Pervasive1CTD_human
HgeneMECP2C0023186Learning Disorders1CTD_human
HgeneMECP2C0026827Muscle hypotonia1CTD_human
HgeneMECP2C0027066Myoclonus1CTD_human;HPO
HgeneMECP2C0033922Psychomotor Disorders1CTD_human
HgeneMECP2C0034069Pulmonary Fibrosis1CTD_human
HgeneMECP2C0035229Respiratory Insufficiency1CTD_human;HPO
HgeneMECP2C0036572Seizures1CTD_human;HPO
HgeneMECP2C0236736Cocaine-Related Disorders1CTD_human
HgeneMECP2C0376634Craniofacial Abnormalities1CTD_human
HgeneMECP2C2239176Liver carcinoma1CTD_human