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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: 7095

FusionGeneSummary for CHL1_ELAC1

check button Fusion gene summary
Fusion gene informationFusion gene name: CHL1_ELAC1
Fusion gene ID: 7095
HgeneTgene
Gene symbol

CHL1

ELAC1

Gene ID

10752

55520

Gene namecell adhesion molecule L1 likeelaC ribonuclease Z 1
SynonymsCALL|L1CAM2D29
Cytomap

3p26.3

18q21.2

Type of geneprotein-codingprotein-coding
Descriptionneural 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 L1zinc phosphodiesterase ELAC protein 1RNase Z 1RNaseZ(S)deleted in Ma29elaC homolog 1elaC homolog protein 1ribonuclease Z 1tRNA 3 endonuclease 1tRNA 3' processing endoribonucleasetRNA Z (short form)tRNase Z 1tRNase ZS
Modification date2018051920180523
UniProtAcc

O00533

Q9H777

Ensembl transtripts involved in fusion geneENST00000256509, ENST00000397491, 
ENST00000489224, 
ENST00000588577, 
ENST00000269466, ENST00000591429, 
ENST00000586966, 
Fusion gene scores* DoF score3 X 3 X 2=181 X 1 X 1=1
# samples 31
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: CHL1 [Title/Abstract] AND ELAC1 [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
ChiTaRS3.1DA092511CHL1chr3

443372

+ELAC1chr18

48513103

+
* 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-3UTRENST00000256509ENST00000588577CHL1chr3

443372

+ELAC1chr18

48513103

+
5CDS-3UTRENST00000256509ENST00000269466CHL1chr3

443372

+ELAC1chr18

48513103

+
5CDS-intronENST00000256509ENST00000591429CHL1chr3

443372

+ELAC1chr18

48513103

+
5CDS-intronENST00000256509ENST00000586966CHL1chr3

443372

+ELAC1chr18

48513103

+
5CDS-3UTRENST00000397491ENST00000588577CHL1chr3

443372

+ELAC1chr18

48513103

+
5CDS-3UTRENST00000397491ENST00000269466CHL1chr3

443372

+ELAC1chr18

48513103

+
5CDS-intronENST00000397491ENST00000591429CHL1chr3

443372

+ELAC1chr18

48513103

+
5CDS-intronENST00000397491ENST00000586966CHL1chr3

443372

+ELAC1chr18

48513103

+
intron-3UTRENST00000489224ENST00000588577CHL1chr3

443372

+ELAC1chr18

48513103

+
intron-3UTRENST00000489224ENST00000269466CHL1chr3

443372

+ELAC1chr18

48513103

+
intron-intronENST00000489224ENST00000591429CHL1chr3

443372

+ELAC1chr18

48513103

+
intron-intronENST00000489224ENST00000586966CHL1chr3

443372

+ELAC1chr18

48513103

+

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FusionProtFeatures for CHL1_ELAC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHL1

O00533

ELAC1

Q9H777

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}. Zinc phosphodiesterase, which displays some tRNA 3'-processing endonuclease activity. Probably involved in tRNAmaturation, by removing a 3'-trailer from precursor tRNA.

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 CHL1_ELAC1


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 CHL1_ELAC1


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 CHL1_ELAC1


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 CHL1_ELAC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHL1C0036341Schizophrenia2CTD_human
HgeneCHL1C0015923Fetal Alcohol Syndrome1PSYGENET
HgeneCHL1C2985290Fetal Alcohol Spectrum Disorders1PSYGENET
HgeneCHL1C3714756Intellectual Disability1CTD_human