FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:CTTNBP2NL-CAPZA1 (FusionGDB2 ID:20588)

Fusion Gene Summary for CTTNBP2NL-CAPZA1

check button Fusion gene summary
Fusion gene informationFusion gene name: CTTNBP2NL-CAPZA1
Fusion gene ID: 20588
HgeneTgene
Gene symbol

CTTNBP2NL

CAPZA1

Gene ID

55917

829

Gene nameCTTNBP2 N-terminal likecapping actin protein of muscle Z-line subunit alpha 1
Synonyms-CAPPA1|CAPZ|CAZ1
Cytomap

1p13.2

1p13.2

Type of geneprotein-codingprotein-coding
DescriptionCTTNBP2 N-terminal-like proteinF-actin-capping protein subunit alpha-1Cap ZcapZ alpha-1capping actin protein of muscle Z-line alpha subunit 1capping protein (actin filament) muscle Z-line, alpha 1
Modification date2020031320200327
UniProtAcc

Q9P2B4

P52907

Ensembl transtripts involved in fusion geneENST00000271277, ENST00000607039, 
ENST00000263168, ENST00000476936, 
Fusion gene scores* DoF score15 X 11 X 5=82510 X 11 X 5=550
# samples 1510
** MAII scorelog2(15/825*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/550*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CTTNBP2NL [Title/Abstract] AND CAPZA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCTTNBP2NL(112958886)-CAPZA1(113212164), # samples:1
CTTNBP2NL(112958886)-CAPZA1(113212165), # samples:1
CAPZA1(113202401)-CTTNBP2NL(112991564), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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 CTTNBP2NL (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CAPZA1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4LUSCTCGA-18-3407CTTNBP2NLchr1

112958886

+CAPZA1chr1

113212164

+
ChimerDB4LUSCTCGA-18-3407CTTNBP2NLchr1

112958886

+CAPZA1chr1

113212165

+


Top

Fusion Gene ORF analysis for CTTNBP2NL-CAPZA1

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
In-frameENST00000271277ENST00000263168CTTNBP2NLchr1

112958886

+CAPZA1chr1

113212164

+
5CDS-3UTRENST00000271277ENST00000476936CTTNBP2NLchr1

112958886

+CAPZA1chr1

113212164

+
intron-3CDSENST00000607039ENST00000263168CTTNBP2NLchr1

112958886

+CAPZA1chr1

113212164

+
intron-3UTRENST00000607039ENST00000476936CTTNBP2NLchr1

112958886

+CAPZA1chr1

113212164

+
In-frameENST00000271277ENST00000263168CTTNBP2NLchr1

112958886

+CAPZA1chr1

113212165

+
5CDS-3UTRENST00000271277ENST00000476936CTTNBP2NLchr1

112958886

+CAPZA1chr1

113212165

+
intron-3CDSENST00000607039ENST00000263168CTTNBP2NLchr1

112958886

+CAPZA1chr1

113212165

+
intron-3UTRENST00000607039ENST00000476936CTTNBP2NLchr1

112958886

+CAPZA1chr1

113212165

+

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)
ENST00000271277CTTNBP2NLchr1112958886+ENST00000263168CAPZA1chr1113212164+2015324189527112
ENST00000271277CTTNBP2NLchr1112958886+ENST00000263168CAPZA1chr1113212165+2015324189527112

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
ENST00000271277ENST00000263168CTTNBP2NLchr1112958886+CAPZA1chr1113212164+0.0147889010.985211
ENST00000271277ENST00000263168CTTNBP2NLchr1112958886+CAPZA1chr1113212165+0.0147889010.985211

Top

Fusion Genomic Features for CTTNBP2NL-CAPZA1


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)
CTTNBP2NLchr1112958886+CAPZA1chr1113212164+1.39E-091
CTTNBP2NLchr1112958886+CAPZA1chr1113212164+1.39E-091

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.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

Fusion Protein Features for CTTNBP2NL-CAPZA1


check button Go to

FGviewer for the breakpoints of chr1:112958886-chr1:113212164

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CTTNBP2NL

Q9P2B4

CAPZA1

P52907

FUNCTION: Regulates lamellipodial actin dynamics in a CTTN-dependent manner. {ECO:0000250|UniProtKB:Q8SX68}.FUNCTION: F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the formation of epithelial cell junctions. {ECO:0000269|PubMed:22891260}.

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
HgeneCTTNBP2NLchr1:112958886chr1:113212164ENST00000271277+3687_28533.0640.0Coiled coilOntology_term=ECO:0000255
HgeneCTTNBP2NLchr1:112958886chr1:113212165ENST00000271277+3687_28533.0640.0Coiled coilOntology_term=ECO:0000255


Top

Fusion Gene Sequence for CTTNBP2NL-CAPZA1


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.
>In-frame_ENST00000271277_ENST00000263168_TCGA-18-3407_CTTNBP2NL_chr1_112958886_+_CAPZA1_chr1_113212164_length(transcript)=2015nt_BP=324nt
GCCCCCGCCGGGCGGCTGAGGGGGCGGAGCCTCAGCCGCTGTGGATGGGGAGTGGAGGCGGAGGGGAGCGGAGCCCGGAGCGTCGTGGAA
AGCATTGGACACATTTCCACCATGCTAATGGCATTTTAAATATATTTGGCAATTTTCCCAATTTTTTACTGAAGAAAACTGTAAGTTTAT
ACTTGAGGACTGAAGTGTGACTCTGCCGATTATCAGGCTTTCAAGATGAATCTGGAAAAACTCAGCAAGCCTGAACTCCTGACACTATTT
AGTATTCTTGAAGGAGAGCTTGAAGCAAGGGACCTTGTTATAGAAGCCTTAAAGAATGAAGCCCAAACTGCCAAGGAGTTTATTAAAATC
ATAGAGAATGCAGAAAATGAGTATCAGACAGCAATTAGTGAAAACTATCAAACAATGTCAGATACCACATTCAAGGCCTTGCGCCGGCAG
CTTCCAGTTACCCGCACCAAAATCGACTGGAACAAGATACTCAGCTACAAGATTGGCAAAGAAATGCAGAATGCTTAAAGGCTGAATGTA
GGATTCTTCAGTATGTGGAAAGACAAGGATTCAACGTGTGGTCATATGATAAATAAGTGATTTATAAACAAGAGTGATATTTTGCTAGGG
CTTTCAAAGTTAACCGGTTTTCTAGCCTCATGGAATACTGTTGAACCTATAGCGTTGTCTTGATTCTTTTGTGTTCTCTGCCTTGTAATT
TTCTGTTACTGCTATATCTACGTGTAAATCTTTTTTTCTTTTTTTTTTTTTTTTTTTGGTTAATTCTGCCACATTTAATGTTGGTGAGAG
AGTGATCTATCCTAATGACATTTTACTGTTTAAAAAAGTTTCCTAGCCATGAAGCCCTGCTACTGATTTAGACAAGGTATTATGGTCATT
ACTTTGTACCCCTATCCTTCCAAGCACTTCTGGTACTTCAGTCGTTTTTACTGATCCACCAACACCTAAAGAGGCTATGCTACAGTCTCT
AGCTAAATGGAAGACACATTCATCCTTCTCCCTCTGACTGCTTTGATCATCATTTATTGCATCTCATAACTAATTTTCTAAAGTTTGGAT
TGGGACTTTTCAGGTCCTTTTTGGAGGGCAAAGGAAGTGCCAGCTTCTCTGGGGAACTTGTTTTTAAATCCAAAGACTTGAACCACATTC
CCTGCACATGAACATGTTTGCTTTTATCCCTTCTCTCATTGTCTCCTTCCCATCTTAGTACCATTGTAGTTATAAACATCTGCATTTTTT
AGAAGCATTTTACCCATTTATTTTTTTAAACATTCAAGAACTGCTGACGTACTGTGGATGTAGAGTATAAAACTTGAAAAATGCAGATGT
TGAAGGAATAATAGGTATCTTGTGCTTTAATACTTTATGGCAGGATTGTACTATAAGCAAATGAATTAAACAGCTATGTAAATCATAAAG
AAAAACTAAAAATGAACCAAAGTGAAAGGATAACTTCCAGGCAGTATCTTTCTATTGTAACCTGTTATTTAAGGAAATACTAGTGATTTC
TTCTAAATAGGATGTAAAACTTCTTTCAAATTACTCTTCCTCAGTCCTGCCTGCCAAGAACTCAAGTGTAACTGTGATAAAATAACCTTT
CCCAGGTATATTGGCAGGTATGTGTGTAATCTCAGAATACACAGGTGACATAGATATGATATGACAACTGGTAATGGTGGATTCATTTAC
ATTGTTTACACTTCTATGACCAGGCCTTAAGGGAAGGTCAGTTTTTTAAAAAACCAAGTAGTGTCTTCCTACCTATCTCCAGATACATGT
CAAAAAAAGAAAGGTGTTTGTGCTTCCGTTTTGTTTCTGCTCAGTAATATAGTCAAGCAAGTTTGTTCCAGGTGACCCATTGAGCTGTGT
ATGCATTTTTGTTTATTTCAATAAAATATATTTGTATTATTTGTCCTTCATACTATCCATCCATACCACACTATCTTCTGTATCAGGTAG

>In-frame_ENST00000271277_ENST00000263168_TCGA-18-3407_CTTNBP2NL_chr1_112958886_+_CAPZA1_chr1_113212164_length(amino acids)=112AA_start in transcript=189_stop in transcript=527
MKCDSADYQAFKMNLEKLSKPELLTLFSILEGELEARDLVIEALKNEAQTAKEFIKIIENAENEYQTAISENYQTMSDTTFKALRRQLPV

--------------------------------------------------------------
>In-frame_ENST00000271277_ENST00000263168_TCGA-18-3407_CTTNBP2NL_chr1_112958886_+_CAPZA1_chr1_113212165_length(transcript)=2015nt_BP=324nt
GCCCCCGCCGGGCGGCTGAGGGGGCGGAGCCTCAGCCGCTGTGGATGGGGAGTGGAGGCGGAGGGGAGCGGAGCCCGGAGCGTCGTGGAA
AGCATTGGACACATTTCCACCATGCTAATGGCATTTTAAATATATTTGGCAATTTTCCCAATTTTTTACTGAAGAAAACTGTAAGTTTAT
ACTTGAGGACTGAAGTGTGACTCTGCCGATTATCAGGCTTTCAAGATGAATCTGGAAAAACTCAGCAAGCCTGAACTCCTGACACTATTT
AGTATTCTTGAAGGAGAGCTTGAAGCAAGGGACCTTGTTATAGAAGCCTTAAAGAATGAAGCCCAAACTGCCAAGGAGTTTATTAAAATC
ATAGAGAATGCAGAAAATGAGTATCAGACAGCAATTAGTGAAAACTATCAAACAATGTCAGATACCACATTCAAGGCCTTGCGCCGGCAG
CTTCCAGTTACCCGCACCAAAATCGACTGGAACAAGATACTCAGCTACAAGATTGGCAAAGAAATGCAGAATGCTTAAAGGCTGAATGTA
GGATTCTTCAGTATGTGGAAAGACAAGGATTCAACGTGTGGTCATATGATAAATAAGTGATTTATAAACAAGAGTGATATTTTGCTAGGG
CTTTCAAAGTTAACCGGTTTTCTAGCCTCATGGAATACTGTTGAACCTATAGCGTTGTCTTGATTCTTTTGTGTTCTCTGCCTTGTAATT
TTCTGTTACTGCTATATCTACGTGTAAATCTTTTTTTCTTTTTTTTTTTTTTTTTTTGGTTAATTCTGCCACATTTAATGTTGGTGAGAG
AGTGATCTATCCTAATGACATTTTACTGTTTAAAAAAGTTTCCTAGCCATGAAGCCCTGCTACTGATTTAGACAAGGTATTATGGTCATT
ACTTTGTACCCCTATCCTTCCAAGCACTTCTGGTACTTCAGTCGTTTTTACTGATCCACCAACACCTAAAGAGGCTATGCTACAGTCTCT
AGCTAAATGGAAGACACATTCATCCTTCTCCCTCTGACTGCTTTGATCATCATTTATTGCATCTCATAACTAATTTTCTAAAGTTTGGAT
TGGGACTTTTCAGGTCCTTTTTGGAGGGCAAAGGAAGTGCCAGCTTCTCTGGGGAACTTGTTTTTAAATCCAAAGACTTGAACCACATTC
CCTGCACATGAACATGTTTGCTTTTATCCCTTCTCTCATTGTCTCCTTCCCATCTTAGTACCATTGTAGTTATAAACATCTGCATTTTTT
AGAAGCATTTTACCCATTTATTTTTTTAAACATTCAAGAACTGCTGACGTACTGTGGATGTAGAGTATAAAACTTGAAAAATGCAGATGT
TGAAGGAATAATAGGTATCTTGTGCTTTAATACTTTATGGCAGGATTGTACTATAAGCAAATGAATTAAACAGCTATGTAAATCATAAAG
AAAAACTAAAAATGAACCAAAGTGAAAGGATAACTTCCAGGCAGTATCTTTCTATTGTAACCTGTTATTTAAGGAAATACTAGTGATTTC
TTCTAAATAGGATGTAAAACTTCTTTCAAATTACTCTTCCTCAGTCCTGCCTGCCAAGAACTCAAGTGTAACTGTGATAAAATAACCTTT
CCCAGGTATATTGGCAGGTATGTGTGTAATCTCAGAATACACAGGTGACATAGATATGATATGACAACTGGTAATGGTGGATTCATTTAC
ATTGTTTACACTTCTATGACCAGGCCTTAAGGGAAGGTCAGTTTTTTAAAAAACCAAGTAGTGTCTTCCTACCTATCTCCAGATACATGT
CAAAAAAAGAAAGGTGTTTGTGCTTCCGTTTTGTTTCTGCTCAGTAATATAGTCAAGCAAGTTTGTTCCAGGTGACCCATTGAGCTGTGT
ATGCATTTTTGTTTATTTCAATAAAATATATTTGTATTATTTGTCCTTCATACTATCCATCCATACCACACTATCTTCTGTATCAGGTAG

>In-frame_ENST00000271277_ENST00000263168_TCGA-18-3407_CTTNBP2NL_chr1_112958886_+_CAPZA1_chr1_113212165_length(amino acids)=112AA_start in transcript=189_stop in transcript=527
MKCDSADYQAFKMNLEKLSKPELLTLFSILEGELEARDLVIEALKNEAQTAKEFIKIIENAENEYQTAISENYQTMSDTTFKALRRQLPV

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

Top

Fusion Gene PPI Analysis for CTTNBP2NL-CAPZA1


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


Top

Related Drugs for CTTNBP2NL-CAPZA1


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

Top

Related Diseases for CTTNBP2NL-CAPZA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCTTNBP2NLC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCAPZA1C0279626Squamous cell carcinoma of esophagus1CTD_human