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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:SEC24C-CCT5 (FusionGDB2 ID:79598)

Fusion Gene Summary for SEC24C-CCT5

check button Fusion gene summary
Fusion gene informationFusion gene name: SEC24C-CCT5
Fusion gene ID: 79598
HgeneTgene
Gene symbol

SEC24C

CCT5

Gene ID

9632

22948

Gene nameSEC24 homolog C, COPII coat complex componentchaperonin containing TCP1 subunit 5
Synonyms-CCT-epsilon|CCTE|HEL-S-69|PNAS-102|TCP-1-epsilon
Cytomap

10q22.2

5p15.2

Type of geneprotein-codingprotein-coding
Descriptionprotein transport protein Sec24CSEC24 family, member CSEC24 related gene family, member CSEC24-related protein CT-complex protein 1 subunit epsilonchaperonin containing TCP1, subunit 5 (epsilon)epididymis secretory protein Li 69
Modification date2020031320200313
UniProtAcc.

P48643

Ensembl transtripts involved in fusion geneENST00000535742, ENST00000546025, 
ENST00000345254, ENST00000540668, 
ENST00000339365, ENST00000411652, 
ENST00000496827, 		ENST00000280326, 
ENST00000503026, ENST00000515390, 
ENST00000515676, ENST00000506600, 
Fusion gene scores* DoF score5 X 4 X 4=8058 X 14 X 17=13804
# samples 661
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(61/13804*10)=-4.50013332598527
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SEC24C [Title/Abstract] AND CCT5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSEC24C(75531919)-CCT5(10250033), # samples:1
Anticipated loss of major functional domain due to fusion event.SEC24C-CCT5 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
SEC24C-CCT5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SEC24C-CCT5 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
SEC24C-CCT5 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneSEC24C

GO:0090110

cargo loading into COPII-coated vesicle

17499046|18843296


check buttonFusion gene breakpoints across SEC24C (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 CCT5 (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
ChimerDB4CESCTCGA-JW-A5VI-01ASEC24Cchr10

75531919

-CCT5chr5

10250033

+


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Fusion Gene ORF analysis for SEC24C-CCT5

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-3CDSENST00000535742ENST00000280326SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000535742ENST00000503026SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000535742ENST00000515390SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000535742ENST00000515676SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000535742ENST00000506600SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-3CDSENST00000546025ENST00000280326SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000546025ENST00000503026SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000546025ENST00000515390SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000546025ENST00000515676SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000546025ENST00000506600SEC24Cchr10

75531919

-CCT5chr5

10250033

+
Frame-shiftENST00000345254ENST00000280326SEC24Cchr10

75531919

-CCT5chr5

10250033

+
5CDS-intronENST00000345254ENST00000503026SEC24Cchr10

75531919

-CCT5chr5

10250033

+
5CDS-intronENST00000345254ENST00000515390SEC24Cchr10

75531919

-CCT5chr5

10250033

+
5CDS-intronENST00000345254ENST00000515676SEC24Cchr10

75531919

-CCT5chr5

10250033

+
5CDS-intronENST00000345254ENST00000506600SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-3CDSENST00000540668ENST00000280326SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000540668ENST00000503026SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000540668ENST00000515390SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000540668ENST00000515676SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000540668ENST00000506600SEC24Cchr10

75531919

-CCT5chr5

10250033

+
Frame-shiftENST00000339365ENST00000280326SEC24Cchr10

75531919

-CCT5chr5

10250033

+
5CDS-intronENST00000339365ENST00000503026SEC24Cchr10

75531919

-CCT5chr5

10250033

+
5CDS-intronENST00000339365ENST00000515390SEC24Cchr10

75531919

-CCT5chr5

10250033

+
5CDS-intronENST00000339365ENST00000515676SEC24Cchr10

75531919

-CCT5chr5

10250033

+
5CDS-intronENST00000339365ENST00000506600SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-3CDSENST00000411652ENST00000280326SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000411652ENST00000503026SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000411652ENST00000515390SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000411652ENST00000515676SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000411652ENST00000506600SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-3CDSENST00000496827ENST00000280326SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000496827ENST00000503026SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000496827ENST00000515390SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000496827ENST00000515676SEC24Cchr10

75531919

-CCT5chr5

10250033

+
intron-intronENST00000496827ENST00000506600SEC24Cchr10

75531919

-CCT5chr5

10250033

+

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)

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

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Fusion Genomic Features for SEC24C-CCT5


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.

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.

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Fusion Protein Features for SEC24C-CCT5


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.CCT5

P48643

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable). {ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:25467444, ECO:0000305}.

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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Fusion Gene Sequence for SEC24C-CCT5


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.

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Fusion Gene PPI Analysis for SEC24C-CCT5


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 SEC24C-CCT5


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 SEC24C-CCT5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSEC24CC0005586Bipolar Disorder1PSYGENET
HgeneSEC24CC0012236DiGeorge Syndrome1ORPHANET
HgeneSEC24CC0041696Unipolar Depression1PSYGENET
HgeneSEC24CC0220704Shprintzen syndrome1ORPHANET
HgeneSEC24CC0431406Asymmetric crying face association1ORPHANET
HgeneSEC24CC0795907CONOTRUNCAL ANOMALY FACE SYNDROME1ORPHANET
HgeneSEC24CC1269683Major Depressive Disorder1PSYGENET
HgeneSEC24CC293634622q11 Deletion Syndrome1ORPHANET
HgeneSEC24CC326610122q11 partial monosomy syndrome1ORPHANET
TgeneCCT5C1850395Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCCT5C0006142Malignant neoplasm of breast1CTD_human
TgeneCCT5C0019193Hepatitis, Toxic1CTD_human
TgeneCCT5C0019693HIV Infections1CTD_human
TgeneCCT5C0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneCCT5C0678222Breast Carcinoma1CTD_human
TgeneCCT5C0860207Drug-Induced Liver Disease1CTD_human
TgeneCCT5C1257931Mammary Neoplasms, Human1CTD_human
TgeneCCT5C1262760Hepatitis, Drug-Induced1CTD_human
TgeneCCT5C1458155Mammary Neoplasms1CTD_human
TgeneCCT5C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneCCT5C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneCCT5C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneCCT5C4505456HIV Coinfection1CTD_human
TgeneCCT5C4704874Mammary Carcinoma, Human1CTD_human