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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: 43660

FusionGeneSummary for ZNF721_CHL1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF721_CHL1
Fusion gene ID: 43660
HgeneTgene
Gene symbol

ZNF721

CHL1

Gene ID

170960

10752

Gene namezinc finger protein 721cell adhesion molecule L1 like
Synonyms-CALL|L1CAM2
Cytomap

4p16.3

3p26.3

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 721neural cell adhesion molecule L1-like proteinL1 cell adhesion molecule 2cell adhesion molecule with homology to L1CAM (close homolog of L1)cell adhesion molecule with homology to L1CAM (close homologue of L1)close homolog of L1
Modification date2018051920180519
UniProtAcc

Q8TF20

O00533

Ensembl transtripts involved in fusion geneENST00000506646, ENST00000507078, 
ENST00000338977, ENST00000511833, 
ENST00000256509, ENST00000397491, 
ENST00000489224, 
Fusion gene scores* DoF score5 X 3 X 4=604 X 4 X 4=64
# samples 54
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF721 [Title/Abstract] AND CHL1 [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

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
TCGALDSARCTCGA-VT-A80G-01AZNF721chr4

429559

-CHL1chr3

286296

+
* 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
3UTR-5UTRENST00000506646ENST00000256509ZNF721chr4

429559

-CHL1chr3

286296

+
3UTR-5UTRENST00000506646ENST00000397491ZNF721chr4

429559

-CHL1chr3

286296

+
3UTR-3UTRENST00000506646ENST00000489224ZNF721chr4

429559

-CHL1chr3

286296

+
5CDS-5UTRENST00000507078ENST00000256509ZNF721chr4

429559

-CHL1chr3

286296

+
5CDS-5UTRENST00000507078ENST00000397491ZNF721chr4

429559

-CHL1chr3

286296

+
5CDS-3UTRENST00000507078ENST00000489224ZNF721chr4

429559

-CHL1chr3

286296

+
intron-5UTRENST00000338977ENST00000256509ZNF721chr4

429559

-CHL1chr3

286296

+
intron-5UTRENST00000338977ENST00000397491ZNF721chr4

429559

-CHL1chr3

286296

+
intron-3UTRENST00000338977ENST00000489224ZNF721chr4

429559

-CHL1chr3

286296

+
intron-5UTRENST00000511833ENST00000256509ZNF721chr4

429559

-CHL1chr3

286296

+
intron-5UTRENST00000511833ENST00000397491ZNF721chr4

429559

-CHL1chr3

286296

+
intron-3UTRENST00000511833ENST00000489224ZNF721chr4

429559

-CHL1chr3

286296

+

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FusionProtFeatures for ZNF721_CHL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZNF721

Q8TF20

CHL1

O00533

May be involved in transcriptional regulation.{ECO:0000250}. Extracellular matrix and cell adhesion protein thatplays a role in nervous system development and in synapticplasticity. Both soluble and membranous forms promote neuriteoutgrowth of cerebellar and hippocampal neurons and suppressneuronal cell death. Plays a role in neuronal positioning ofpyramidal neurons and in regulation of both the number ofinterneurons and the efficacy of GABAergic synapses. May play arole in regulating cell migration in nerve regeneration andcortical development. Potentiates integrin-dependent cellmigration towards extracellular matrix proteins. Recruits ANK3 tothe plasma membrane (By similarity). {ECO:0000250}.

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 ZNF721_CHL1


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 ZNF721_CHL1


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
ZNF721TRIM28CHL1ANK1, ANK3, ANK2, LGALS1


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 ZNF721_CHL1


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 ZNF721_CHL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCHL1C0036341Schizophrenia2CTD_human
TgeneCHL1C0015923Fetal Alcohol Syndrome1PSYGENET
TgeneCHL1C2985290Fetal Alcohol Spectrum Disorders1PSYGENET
TgeneCHL1C3714756Intellectual Disability1CTD_human