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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:NCAM2-CRYL1 (FusionGDB2 ID:HG4685TG51084)

Fusion Gene Summary for NCAM2-CRYL1

check button Fusion gene summary
Fusion gene informationFusion gene name: NCAM2-CRYL1
Fusion gene ID: hg4685tg51084
HgeneTgene
Gene symbol

NCAM2

CRYL1

Gene ID

4685

51084

Gene nameneural cell adhesion molecule 2crystallin lambda 1
SynonymsNCAM21GDH|HEL30|gul3DH|lambda-CRY
Cytomap('NCAM2')('CRYL1')

21q21.1

13q12.11

Type of geneprotein-codingprotein-coding
Descriptionneural cell adhesion molecule 2N-CAM-2NCAM-2lambda-crystallin homologL-gulonate 3-dehydrogenasecrystallin, lamda 1epididymis luminal protein 30testicular tissue protein Li 44
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000284894, ENST00000400546, 
ENST00000486367, ENST00000535285, 
Fusion gene scores* DoF score15 X 9 X 7=94515 X 9 X 10=1350
# samples 1417
** MAII scorelog2(14/945*10)=-2.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1350*10)=-2.98935275580049
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NCAM2 [Title/Abstract] AND CRYL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNCAM2(22370936)-CRYL1(20978880), # samples:3
Anticipated loss of major functional domain due to fusion event.NCAM2-CRYL1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NCAM2-CRYL1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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 buttonFusion gene breakpoints across NCAM2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across CRYL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-EJ-5512-01ANCAM2chr21

22370936

-CRYL1chr13

20978880

-
ChimerDB4PRADTCGA-EJ-5512-01ANCAM2chr21

22370936

+CRYL1chr13

20978880

-
ChimerDB4PRADTCGA-EJ-5512NCAM2chr21

22370936

+CRYL1chr13

20978880

-


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Fusion Gene ORF analysis for NCAM2-CRYL1

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-intronENST00000284894ENST00000480748NCAM2chr21

22370936

+CRYL1chr13

20978880

-
5CDS-intronENST00000400546ENST00000480748NCAM2chr21

22370936

+CRYL1chr13

20978880

-
In-frameENST00000284894ENST00000298248NCAM2chr21

22370936

+CRYL1chr13

20978880

-
In-frameENST00000284894ENST00000382812NCAM2chr21

22370936

+CRYL1chr13

20978880

-
In-frameENST00000400546ENST00000298248NCAM2chr21

22370936

+CRYL1chr13

20978880

-
In-frameENST00000400546ENST00000382812NCAM2chr21

22370936

+CRYL1chr13

20978880

-
intron-3CDSENST00000486367ENST00000298248NCAM2chr21

22370936

+CRYL1chr13

20978880

-
intron-3CDSENST00000486367ENST00000382812NCAM2chr21

22370936

+CRYL1chr13

20978880

-
intron-3CDSENST00000535285ENST00000298248NCAM2chr21

22370936

+CRYL1chr13

20978880

-
intron-3CDSENST00000535285ENST00000382812NCAM2chr21

22370936

+CRYL1chr13

20978880

-
intron-intronENST00000486367ENST00000480748NCAM2chr21

22370936

+CRYL1chr13

20978880

-
intron-intronENST00000535285ENST00000480748NCAM2chr21

22370936

+CRYL1chr13

20978880

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000400546NCAM2chr2122370936+ENST00000298248CRYL1chr1320978880-98730424352493
ENST00000400546NCAM2chr2122370936+ENST00000382812CRYL1chr1320978880-98330424352493
ENST00000284894NCAM2chr2122370936+ENST00000298248CRYL1chr1320978880-73855027591
ENST00000284894NCAM2chr2122370936+ENST00000382812CRYL1chr1320978880-73455027591

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000400546ENST00000298248NCAM2chr2122370936+CRYL1chr1320978880-0.098685310.9013147
ENST00000400546ENST00000382812NCAM2chr2122370936+CRYL1chr1320978880-0.099092580.9009074
ENST00000284894ENST00000298248NCAM2chr2122370936+CRYL1chr1320978880-0.106929030.89307094
ENST00000284894ENST00000382812NCAM2chr2122370936+CRYL1chr1320978880-0.106479540.8935205

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Fusion Genomic Features for NCAM2-CRYL1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for NCAM2-CRYL1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr21:22370936/chr13:20978880)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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
HgeneNCAM2chr21:22370936chr13:20978880ENST00000400546+118113_20218838.0DomainNote=Ig-like C2-type 2
HgeneNCAM2chr21:22370936chr13:20978880ENST00000400546+118208_29718838.0DomainNote=Ig-like C2-type 3
HgeneNCAM2chr21:22370936chr13:20978880ENST00000400546+11821_10818838.0DomainNote=Ig-like C2-type 1
HgeneNCAM2chr21:22370936chr13:20978880ENST00000400546+118302_39618838.0DomainNote=Ig-like C2-type 4
HgeneNCAM2chr21:22370936chr13:20978880ENST00000400546+118401_49118838.0DomainNote=Ig-like C2-type 5
HgeneNCAM2chr21:22370936chr13:20978880ENST00000400546+118498_59118838.0DomainFibronectin type-III 1
HgeneNCAM2chr21:22370936chr13:20978880ENST00000400546+118593_68818838.0DomainFibronectin type-III 2
HgeneNCAM2chr21:22370936chr13:20978880ENST00000400546+11820_69718838.0Topological domainExtracellular
HgeneNCAM2chr21:22370936chr13:20978880ENST00000400546+118719_83718838.0Topological domainCytoplasmic
HgeneNCAM2chr21:22370936chr13:20978880ENST00000400546+118698_71818838.0TransmembraneHelical
TgeneCRYL1chr21:22370936chr13:20978880ENST000002982485816_17246320.0Nucleotide bindingNAD
TgeneCRYL1chr21:22370936chr13:20978880ENST000003828126916_17224298.0Nucleotide bindingNAD


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Fusion Gene Sequence for NCAM2-CRYL1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>57519_57519_1_NCAM2-CRYL1_NCAM2_chr21_22370936_ENST00000284894_CRYL1_chr13_20978880_ENST00000298248_length(transcript)=738nt_BP=55nt
ATGAGCCTCCTCCTCTCCTTCTACCTGCTGGGGTTGCTTGTCAGTAGCGGGCAAGGTATGTTAAGCTACTGCGACAGATACAGCGAAGGC
ATAAAACATGTCCTACAGACTTTTGGACCCATTCCAGAGTTTTCCAGGGCCACTGCTGAGAAGGTTAACCAGGACATGTGCATGAAGGTC
CCTGATGACCCGGAGCACTTAGCTGCCAGGAGGCAGTGGAGGGACGAGTGCCTCATGAGACTCGCCAAGTTGAAGAGTCAAGTGCAGCCC
CAGTGAATTTCTTGTAATGCAGCTTCCACTCCTCTCATTGGAGGCCCTATTTGGGAACACTGCAAGCCCTTAATCAGCCCTCTGTGACAT
AGGTAGCAGCCCACGGAGATCCTAAGCTGGCTGTCTTGTGTGCAGCCTGAGTGGGGTGGTGCAGGCCGGTAGTCTGCCCGTCACTTTGGA
TCATAGCCCTGGGCCTGGCGGCACAGCAGCACTTGCGTTCTCGGGGCTGTCGATTTCCTGCCACCTGGGCAGATAACCTGGAGATTTTCA
CCTTTTCTTTTCAGCTTGATTGCATTTGACTATATTTTACAGCCAGTGATTGTAGTTTCATGTTAATATGTGGCAAAATATTTTTGTAAT
TATTTTCTAATCCCTTTCTGAGTACTCTGGGGCCCTGCATTTATGAGGCACCTACCTTCATTTTGCTAACGCTTATTCTGAATAAAAGTT

>57519_57519_1_NCAM2-CRYL1_NCAM2_chr21_22370936_ENST00000284894_CRYL1_chr13_20978880_ENST00000298248_length(amino acids)=91AA_BP=18
MSLLLSFYLLGLLVSSGQGMLSYCDRYSEGIKHVLQTFGPIPEFSRATAEKVNQDMCMKVPDDPEHLAARRQWRDECLMRLAKLKSQVQP

--------------------------------------------------------------
>57519_57519_2_NCAM2-CRYL1_NCAM2_chr21_22370936_ENST00000284894_CRYL1_chr13_20978880_ENST00000382812_length(transcript)=734nt_BP=55nt
ATGAGCCTCCTCCTCTCCTTCTACCTGCTGGGGTTGCTTGTCAGTAGCGGGCAAGGTATGTTAAGCTACTGCGACAGATACAGCGAAGGC
ATAAAACATGTCCTACAGACTTTTGGACCCATTCCAGAGTTTTCCAGGGCCACTGCTGAGAAGGTTAACCAGGACATGTGCATGAAGGTC
CCTGATGACCCGGAGCACTTAGCTGCCAGGAGGCAGTGGAGGGACGAGTGCCTCATGAGACTCGCCAAGTTGAAGAGTCAAGTGCAGCCC
CAGTGAATTTCTTGTAATGCAGCTTCCACTCCTCTCATTGGAGGCCCTATTTGGGAACACTGCAAGCCCTTAATCAGCCCTCTGTGACAT
AGGTAGCAGCCCACGGAGATCCTAAGCTGGCTGTCTTGTGTGCAGCCTGAGTGGGGTGGTGCAGGCCGGTAGTCTGCCCGTCACTTTGGA
TCATAGCCCTGGGCCTGGCGGCACAGCAGCACTTGCGTTCTCGGGGCTGTCGATTTCCTGCCACCTGGGCAGATAACCTGGAGATTTTCA
CCTTTTCTTTTCAGCTTGATTGCATTTGACTATATTTTACAGCCAGTGATTGTAGTTTCATGTTAATATGTGGCAAAATATTTTTGTAAT
TATTTTCTAATCCCTTTCTGAGTACTCTGGGGCCCTGCATTTATGAGGCACCTACCTTCATTTTGCTAACGCTTATTCTGAATAAAAGTT

>57519_57519_2_NCAM2-CRYL1_NCAM2_chr21_22370936_ENST00000284894_CRYL1_chr13_20978880_ENST00000382812_length(amino acids)=91AA_BP=18
MSLLLSFYLLGLLVSSGQGMLSYCDRYSEGIKHVLQTFGPIPEFSRATAEKVNQDMCMKVPDDPEHLAARRQWRDECLMRLAKLKSQVQP

--------------------------------------------------------------
>57519_57519_3_NCAM2-CRYL1_NCAM2_chr21_22370936_ENST00000400546_CRYL1_chr13_20978880_ENST00000298248_length(transcript)=987nt_BP=304nt
GCTGCCGCCGCGGCGGCCGCTGCTGCTGCTGCTTCTGCCGCCGCTGCCGCCGCCGCTGCCTGGATATAGTGCGGCAAGAGCGGAGCTTGC
AGTCACTTTGCGAGGAGGAGCGCGCGGGCTGCGGGCGGCTGGGGCACCGCGGGAGCGGCGGCGGCGGCTCTAGCAGAGGCGGCCGGGGCA
GCGAAAGGTTCTCTCTCCAGGGCTGGACTTAATAACTTTGAAACTGTCCACCGGTGTCACGTCCTGAACATGAGCCTCCTCCTCTCCTTC
TACCTGCTGGGGTTGCTTGTCAGTAGCGGGCAAGGTATGTTAAGCTACTGCGACAGATACAGCGAAGGCATAAAACATGTCCTACAGACT
TTTGGACCCATTCCAGAGTTTTCCAGGGCCACTGCTGAGAAGGTTAACCAGGACATGTGCATGAAGGTCCCTGATGACCCGGAGCACTTA
GCTGCCAGGAGGCAGTGGAGGGACGAGTGCCTCATGAGACTCGCCAAGTTGAAGAGTCAAGTGCAGCCCCAGTGAATTTCTTGTAATGCA
GCTTCCACTCCTCTCATTGGAGGCCCTATTTGGGAACACTGCAAGCCCTTAATCAGCCCTCTGTGACATAGGTAGCAGCCCACGGAGATC
CTAAGCTGGCTGTCTTGTGTGCAGCCTGAGTGGGGTGGTGCAGGCCGGTAGTCTGCCCGTCACTTTGGATCATAGCCCTGGGCCTGGCGG
CACAGCAGCACTTGCGTTCTCGGGGCTGTCGATTTCCTGCCACCTGGGCAGATAACCTGGAGATTTTCACCTTTTCTTTTCAGCTTGATT
GCATTTGACTATATTTTACAGCCAGTGATTGTAGTTTCATGTTAATATGTGGCAAAATATTTTTGTAATTATTTTCTAATCCCTTTCTGA

>57519_57519_3_NCAM2-CRYL1_NCAM2_chr21_22370936_ENST00000400546_CRYL1_chr13_20978880_ENST00000298248_length(amino acids)=93AA_BP=20
MNMSLLLSFYLLGLLVSSGQGMLSYCDRYSEGIKHVLQTFGPIPEFSRATAEKVNQDMCMKVPDDPEHLAARRQWRDECLMRLAKLKSQV

--------------------------------------------------------------
>57519_57519_4_NCAM2-CRYL1_NCAM2_chr21_22370936_ENST00000400546_CRYL1_chr13_20978880_ENST00000382812_length(transcript)=983nt_BP=304nt
GCTGCCGCCGCGGCGGCCGCTGCTGCTGCTGCTTCTGCCGCCGCTGCCGCCGCCGCTGCCTGGATATAGTGCGGCAAGAGCGGAGCTTGC
AGTCACTTTGCGAGGAGGAGCGCGCGGGCTGCGGGCGGCTGGGGCACCGCGGGAGCGGCGGCGGCGGCTCTAGCAGAGGCGGCCGGGGCA
GCGAAAGGTTCTCTCTCCAGGGCTGGACTTAATAACTTTGAAACTGTCCACCGGTGTCACGTCCTGAACATGAGCCTCCTCCTCTCCTTC
TACCTGCTGGGGTTGCTTGTCAGTAGCGGGCAAGGTATGTTAAGCTACTGCGACAGATACAGCGAAGGCATAAAACATGTCCTACAGACT
TTTGGACCCATTCCAGAGTTTTCCAGGGCCACTGCTGAGAAGGTTAACCAGGACATGTGCATGAAGGTCCCTGATGACCCGGAGCACTTA
GCTGCCAGGAGGCAGTGGAGGGACGAGTGCCTCATGAGACTCGCCAAGTTGAAGAGTCAAGTGCAGCCCCAGTGAATTTCTTGTAATGCA
GCTTCCACTCCTCTCATTGGAGGCCCTATTTGGGAACACTGCAAGCCCTTAATCAGCCCTCTGTGACATAGGTAGCAGCCCACGGAGATC
CTAAGCTGGCTGTCTTGTGTGCAGCCTGAGTGGGGTGGTGCAGGCCGGTAGTCTGCCCGTCACTTTGGATCATAGCCCTGGGCCTGGCGG
CACAGCAGCACTTGCGTTCTCGGGGCTGTCGATTTCCTGCCACCTGGGCAGATAACCTGGAGATTTTCACCTTTTCTTTTCAGCTTGATT
GCATTTGACTATATTTTACAGCCAGTGATTGTAGTTTCATGTTAATATGTGGCAAAATATTTTTGTAATTATTTTCTAATCCCTTTCTGA

>57519_57519_4_NCAM2-CRYL1_NCAM2_chr21_22370936_ENST00000400546_CRYL1_chr13_20978880_ENST00000382812_length(amino acids)=93AA_BP=20
MNMSLLLSFYLLGLLVSSGQGMLSYCDRYSEGIKHVLQTFGPIPEFSRATAEKVNQDMCMKVPDDPEHLAARRQWRDECLMRLAKLKSQV

--------------------------------------------------------------

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Fusion Gene PPI Analysis for NCAM2-CRYL1


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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Related Drugs for NCAM2-CRYL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for NCAM2-CRYL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0520459Necrotizing Enterocolitis1CTD_human