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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:CHGB-PENK (FusionGDB2 ID:16486)

Fusion Gene Summary for CHGB-PENK

check button Fusion gene summary
Fusion gene informationFusion gene name: CHGB-PENK
Fusion gene ID: 16486
HgeneTgene
Gene symbol

CHGB

PENK

Gene ID

1114

5179

Gene namechromogranin Bproenkephalin
SynonymsSCG1PE|PENK-A
Cytomap

20p12.3

8q12.1

Type of geneprotein-codingprotein-coding
Descriptionsecretogranin-1cgBsecretogranin Bsecretogranin IsgIproenkephalin-Aenkephalin Apeptide Fpreproenkephalin
Modification date2020031320200315
UniProtAcc

P05060

.
Ensembl transtripts involved in fusion geneENST00000378961, ENST00000488832, 
ENST00000314922, ENST00000451791, 
ENST00000523274, ENST00000523051, 
ENST00000518770, 
Fusion gene scores* DoF score8 X 7 X 2=1126 X 6 X 4=144
# samples 97
** MAII scorelog2(9/112*10)=-0.315501825727929
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CHGB [Title/Abstract] AND PENK [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHGB(5904003)-PENK(57354090), # samples:1
PENK(57354194)-CHGB(5903946), # samples:1
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 CHGB (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 PENK (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
ChimerDB4PCPGTCGA-WB-A80Y-01ACHGBchr20

5904003

+PENKchr8

57354090

-


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Fusion Gene ORF analysis for CHGB-PENK

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
Frame-shiftENST00000378961ENST00000314922CHGBchr20

5904003

+PENKchr8

57354090

-
In-frameENST00000378961ENST00000451791CHGBchr20

5904003

+PENKchr8

57354090

-
5CDS-5UTRENST00000378961ENST00000523274CHGBchr20

5904003

+PENKchr8

57354090

-
5CDS-intronENST00000378961ENST00000523051CHGBchr20

5904003

+PENKchr8

57354090

-
5CDS-intronENST00000378961ENST00000518770CHGBchr20

5904003

+PENKchr8

57354090

-
intron-3CDSENST00000488832ENST00000314922CHGBchr20

5904003

+PENKchr8

57354090

-
intron-3CDSENST00000488832ENST00000451791CHGBchr20

5904003

+PENKchr8

57354090

-
intron-5UTRENST00000488832ENST00000523274CHGBchr20

5904003

+PENKchr8

57354090

-
intron-intronENST00000488832ENST00000523051CHGBchr20

5904003

+PENKchr8

57354090

-
intron-intronENST00000488832ENST00000518770CHGBchr20

5904003

+PENKchr8

57354090

-

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)
ENST00000378961CHGBchr205904003+ENST00000451791PENKchr857354090-1397113761139377

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
ENST00000378961ENST00000451791CHGBchr205904003+PENKchr857354090-0.0028356520.9971643

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Fusion Genomic Features for CHGB-PENK


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 CHGB-PENK


check button Go to

FGviewer for the breakpoints of chr20:5904003-chr8:57354090

.
- 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
CHGB

P05060

.
FUNCTION: Secretogranin-1 is a neuroendocrine secretory granule protein, which may be the precursor for other biologically active peptides.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.

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
HgeneCHGBchr20:5904003chr8:57354090ENST00000378961+15163_1710678.0Compositional biasNote=Poly-Glu
HgeneCHGBchr20:5904003chr8:57354090ENST00000378961+15116_1200678.0RegionNote=O-glycosylated at one site


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Fusion Gene Sequence for CHGB-PENK


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_ENST00000378961_ENST00000451791_TCGA-WB-A80Y-01A_CHGB_chr20_5904003_+_PENK_chr8_57354090_length(transcript)=1397nt_BP=1137nt
CCGCTCCTGGCTGCCCGCTCCTCCCGGCCCTGCGGCCCCCGCCTGCCCTTTAAAAGAGCGGGGCCTGCGCCGGCCGCGCCACACCGCGGG
GACCAGGAGGCACGCTGGTTTTCCGGGGCCGCTCCATCGCGCCTTCCTCCTGCGCCTCGCTTCTCCGGTCCAGCCGCCATCTTCCTTTCC
GCACAGGGGCCGCCGAGCGGGGCCATGCAGCCAACGCTGCTTCTCAGCCTCCTGGGAGCCGTGGGGCTGGCGGCTGTCAATTCCATGCCA
GTGGATAACAGGAACCACAATGAAGGAATGGTGACTCGCTGCATCATTGAGGTCCTCTCAAATGCCTTGTCGAAGTCCAGCGCTCCACCC
ATCACCCCTGAGTGCCGCCAAGTCCTGAAGACGAGTGAGGAAGAGAGGGGCCTTGAGCCGGGAAAGGGACGCCATCACAGAGGCAGGGGA
GGGGAGCCACGTGCCTATTTCATGTCTGACACCAGAGAAGAGAAAAGGTTCTTGGGTGAAGGACACCACCGTGTCCAAGAAAACCAGATG
GACAAGGCAAGGAGGCATCCACAAGGTGCGTGGAAAGAGCTGGACAGAAATTATCTCAACTACGGTGAGGAAGGAGCCCCAGGGAAGTGG
CAGCAGCAGGGAGACCTGCAGGACACTAAAGAAAACAGGGAGGAAGCTAGGTTTCAAGATAAACAATATAGCTCCCATCACACAGCTGAA
AAGAGGAAGAGATTAGGGGAACTGTTCAACCCATACTACGACCCTCTCCAGTGGAAGAGCAGCCATTTTGAAAGAAGAGACAACATGAAT
GACAATTTTCTCGAGGGTGAGGAGGAAAATGAGCTGACCTTGAACGAGAAGAATTTCTTCCCAGAATACAACTATGACTGGTGGGAGAAA
AAGCCCTTCTCTGAGGATGTGAACTGGGGGTATGAGAAGAGAAACCTCGCCAGGGTCCCCAAGCTGGACCTGAAAAGGCAATATGACAGG
GTGGCCCAACTGGACCAGCTCCTTCACTACAGGAAGAAGTCAGCTGAGTTTCCAGACTTCTATGATTCTGAGGAGCCGGTGAGCACCCAC
CAGGAGGCAGAAAATGAAAAGGACAGGGCTGACCAGACAGTCCTGACAGAGGACGAGTGAGCAAGAGATATGGGGGCTTCATGAGAGGCT
TAAAGAGAAGCCCCCAACTGGAAGATGAAGCCAAAGAGCTGCAGAAGCGATATGGGGGCTTCATGAGAAGAGTAGGTCGCCCAGAGTGGT
GGATGGACTACCAGAAACGGTATGGAGGTTTCCTGAAGCGCTTTGCCGAGGCTCTGCCCTCCGACGAAGAAGGCGAAAGTTACTCCAAAG

>In-frame_ENST00000378961_ENST00000451791_TCGA-WB-A80Y-01A_CHGB_chr20_5904003_+_PENK_chr8_57354090_length(amino acids)=377AA_start in transcript=6_stop in transcript=1139
MAARSSRPCGPRLPFKRAGPAPAAPHRGDQEARWFSGAAPSRLPPAPRFSGPAAIFLSAQGPPSGAMQPTLLLSLLGAVGLAAVNSMPVD
NRNHNEGMVTRCIIEVLSNALSKSSAPPITPECRQVLKTSEEERGLEPGKGRHHRGRGGEPRAYFMSDTREEKRFLGEGHHRVQENQMDK
ARRHPQGAWKELDRNYLNYGEEGAPGKWQQQGDLQDTKENREEARFQDKQYSSHHTAEKRKRLGELFNPYYDPLQWKSSHFERRDNMNDN
FLEGEEENELTLNEKNFFPEYNYDWWEKKPFSEDVNWGYEKRNLARVPKLDLKRQYDRVAQLDQLLHYRKKSAEFPDFYDSEEPVSTHQE

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

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Fusion Gene PPI Analysis for CHGB-PENK


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 CHGB-PENK


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 CHGB-PENK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHGBC0036341Schizophrenia3PSYGENET
HgeneCHGBC0221765Chronic schizophrenia1PSYGENET
TgenePENKC0011570Mental Depression4PSYGENET
TgenePENKC0011581Depressive disorder4PSYGENET
TgenePENKC0024809Marijuana Abuse3PSYGENET
TgenePENKC0006870Cannabis Dependence1PSYGENET
TgenePENKC0013386Dyskinesia, Drug-Induced1CTD_human
TgenePENKC0027404Narcolepsy1CTD_human
TgenePENKC0027412Opioid-Related Disorders1CTD_human
TgenePENKC0027765nervous system disorder1CTD_human
TgenePENKC0029095Opioid abuse1CTD_human
TgenePENKC0030193Pain1CTD_human
TgenePENKC0033578Prostatic Neoplasms1CTD_human
TgenePENKC0234230Pain, Burning1CTD_human
TgenePENKC0234238Ache1CTD_human
TgenePENKC0234254Radiating pain1CTD_human
TgenePENKC0376358Malignant neoplasm of prostate1CTD_human
TgenePENKC0458257Pain, Splitting1CTD_human
TgenePENKC0458259Pain, Crushing1CTD_human
TgenePENKC0524661Narcotic Abuse1CTD_human
TgenePENKC0524662Opiate Addiction1CTD_human
TgenePENKC0751088Dyskinesia, Medication-Induced1CTD_human
TgenePENKC0751362Narcolepsy-Cataplexy Syndrome1CTD_human
TgenePENKC0751407Pain, Migratory1CTD_human
TgenePENKC0751408Suffering, Physical1CTD_human
TgenePENKC1527402Narcotic Dependence1CTD_human
TgenePENKC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
TgenePENKC1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
TgenePENKC4551628Opiate Abuse1CTD_human
TgenePENKC4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human