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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:ATP5B-CALCA (FusionGDB2 ID:8011)

Fusion Gene Summary for ATP5B-CALCA

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP5B-CALCA
Fusion gene ID: 8011
HgeneTgene
Gene symbol

ATP5B

CALCA

Gene ID

506

796

Gene nameATP synthase F1 subunit betacalcitonin related polypeptide alpha
SynonymsATP5B|ATPMB|ATPSB|HEL-S-271CALC1|CGRP|CGRP-I|CGRP-alpha|CGRP1|CT|KC|PCT
Cytomap

12q13.3

11p15.2

Type of geneprotein-codingprotein-coding
DescriptionATP synthase subunit beta, mitochondrialATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptideepididymis secretory protein Li 271mitochondrial ATP synthase beta subunitmitochondrial ATP synthetase, beta subunitcalcitonincalcitonin gene-related peptide 1alpha-type CGRPcalcitonin 1calcitonin gene-related peptide Icalcitonin/calcitonin-related polypeptide, alphakatacalcin
Modification date2020032720200329
UniProtAcc.

P01258

Ensembl transtripts involved in fusion geneENST00000262030, ENST00000552919, 
ENST00000550162, 		ENST00000486207, 
ENST00000361010, ENST00000359642, 
ENST00000331587, ENST00000396372, 
Fusion gene scores* DoF score17 X 19 X 7=22611 X 1 X 1=1
# samples 221
** MAII scorelog2(22/2261*10)=-3.36138556322687
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: ATP5B [Title/Abstract] AND CALCA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP5B(57039621)-CALCA(14992747), # 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
HgeneATP5B

GO:0042776

mitochondrial ATP synthesis coupled proton transport

12110673

TgeneCALCA

GO:0002548

monocyte chemotaxis

15248232

TgeneCALCA

GO:0007189

adenylate cyclase-activating G protein-coupled receptor signaling pathway

8078488|11014233

TgeneCALCA

GO:0007204

positive regulation of cytosolic calcium ion concentration

17983652

TgeneCALCA

GO:0007566

embryo implantation

17983652

TgeneCALCA

GO:0032147

activation of protein kinase activity

17983652

TgeneCALCA

GO:0045779

negative regulation of bone resorption

17241109

TgeneCALCA

GO:0045892

negative regulation of transcription, DNA-templated

11014233

TgeneCALCA

GO:0051482

positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway

8078488


check buttonFusion gene breakpoints across ATP5B (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 CALCA (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
ChimerDB4LUADTCGA-80-5608-01AATP5Bchr12

57039621

-CALCAchr11

14992747

-


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Fusion Gene ORF analysis for ATP5B-CALCA

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-frameENST00000262030ENST00000486207ATP5Bchr12

57039621

-CALCAchr11

14992747

-
5CDS-5UTRENST00000262030ENST00000361010ATP5Bchr12

57039621

-CALCAchr11

14992747

-
5CDS-5UTRENST00000262030ENST00000359642ATP5Bchr12

57039621

-CALCAchr11

14992747

-
5CDS-5UTRENST00000262030ENST00000331587ATP5Bchr12

57039621

-CALCAchr11

14992747

-
5CDS-5UTRENST00000262030ENST00000396372ATP5Bchr12

57039621

-CALCAchr11

14992747

-
In-frameENST00000552919ENST00000486207ATP5Bchr12

57039621

-CALCAchr11

14992747

-
5CDS-5UTRENST00000552919ENST00000361010ATP5Bchr12

57039621

-CALCAchr11

14992747

-
5CDS-5UTRENST00000552919ENST00000359642ATP5Bchr12

57039621

-CALCAchr11

14992747

-
5CDS-5UTRENST00000552919ENST00000331587ATP5Bchr12

57039621

-CALCAchr11

14992747

-
5CDS-5UTRENST00000552919ENST00000396372ATP5Bchr12

57039621

-CALCAchr11

14992747

-
intron-3CDSENST00000550162ENST00000486207ATP5Bchr12

57039621

-CALCAchr11

14992747

-
intron-5UTRENST00000550162ENST00000361010ATP5Bchr12

57039621

-CALCAchr11

14992747

-
intron-5UTRENST00000550162ENST00000359642ATP5Bchr12

57039621

-CALCAchr11

14992747

-
intron-5UTRENST00000550162ENST00000331587ATP5Bchr12

57039621

-CALCAchr11

14992747

-
intron-5UTRENST00000550162ENST00000396372ATP5Bchr12

57039621

-CALCAchr11

14992747

-

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)
ENST00000262030ATP5Bchr1257039621-ENST00000486207CALCAchr1114992747-102917810573187
ENST00000552919ATP5Bchr1257039621-ENST00000486207CALCAchr1114992747-98813720532170

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
ENST00000262030ENST00000486207ATP5Bchr1257039621-CALCAchr1114992747-0.0157372230.98426276
ENST00000552919ENST00000486207ATP5Bchr1257039621-CALCAchr1114992747-0.0107485750.98925143

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Fusion Genomic Features for ATP5B-CALCA


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 ATP5B-CALCA


check button Go to

FGviewer for the breakpoints of chr12:57039621-chr11:14992747

.
- 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
.CALCA

P01258

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: Calcitonin causes a rapid but short-lived drop in the level of calcium and phosphate in blood by promoting the incorporation of those ions in the bones.; FUNCTION: Katacalcin is a potent plasma calcium-lowering peptide.

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
HgeneATP5Bchr12:57039621chr11:14992747ENST00000262030-110207_21442.333333333333336530.0Nucleotide bindingATP


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Fusion Gene Sequence for ATP5B-CALCA


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_ENST00000262030_ENST00000486207_TCGA-80-5608-01A_ATP5B_chr12_57039621_-_CALCA_chr11_14992747_length(transcript)=1029nt_BP=178nt
GAGCAGGCGGCTGCGGTTGCTGCAGCCTTCAGTCTCCACCCGGACTACGCCATGTTGGGGTTTGTGGGTCGGGTGGCCGCTGCTCCGGCC
TCCGGGGCCTTGCGGAGACTCACCCCTTCAGCGTCGCTGCCCCCAGCTCAGCTCTTACTGCGGGCCGCTCCGACGGCGGTCCATCCTGAG
AGGTGTCATGGGCTTCCAAAAGTTCTCCCCCTTCCTGGCTCTCAGCATCTTGGTCCTGTTGCAGGCAGGCAGCCTCCATGCAGCACCATT
CAGGTCTGCCCTGGAGAGCAGCCCAGCAGACCCGGCCACGCTCAGTGAGGACGAAGCGCGCCTCCTGCTGGCTGCACTGGTGCAGAACTA
TGTGCAGATGAAGGCCAGTGAGCTGGAGCAGGAGCAAGAGAGAGAGGGCTCCAGAATCATTGCCCAGAAGAGAGCCTGTGACACTGCCAC
CTGTGTGACTCATCGGCTGGCAGGCTTGCTGAGCAGATCAGGGGGTGTGGTGAAGAACAACTTTGTGCCCACCAATGTGGGTTCCAAAGC
CTTTGGCAGGCGCCGCAGGGACCTTCAAGCCTGAGCAGCTGAATGACTCAAGAAGGTCACAATAAAGCTGAACTCCTTTTAATGTGTAAT
GAAAGCAATTTGTAGGAAAGGCTCCATGGAAGACATACATATAGGCATCCTTCTTGATACTGAAAACTATCTTCTTTGTTTGAAAGGAAC
TATTGCTAAATGCAGAACAAGCTCATTGCAGTTACCTATTGTGCATCTTTTTAAATACTTGATTATGTAACCATAAATCTGACAGCATGT
CTCATTGGCTTATCTGGTAGCAAATCTAGGCCCCGTCAGCCACCCTATTGACATTGGTGGCTCTGCTAAACCTCAGGGGGACATGAAATC
ACTGCCTCTTGGGCATCTGGGGACACATGGTAATGCTGTGCCTTGACAGAAGTATTTGTTTAAAGAAATGTCAATGCTGTCATTTGTGAA

>In-frame_ENST00000262030_ENST00000486207_TCGA-80-5608-01A_ATP5B_chr12_57039621_-_CALCA_chr11_14992747_length(amino acids)=187AA_start in transcript=10_stop in transcript=573
MRLLQPSVSTRTTPCWGLWVGWPLLRPPGPCGDSPLQRRCPQLSSYCGPLRRRSILRGVMGFQKFSPFLALSILVLLQAGSLHAAPFRSA
LESSPADPATLSEDEARLLLAALVQNYVQMKASELEQEQEREGSRIIAQKRACDTATCVTHRLAGLLSRSGGVVKNNFVPTNVGSKAFGR

--------------------------------------------------------------
>In-frame_ENST00000552919_ENST00000486207_TCGA-80-5608-01A_ATP5B_chr12_57039621_-_CALCA_chr11_14992747_length(transcript)=988nt_BP=137nt
GGACTACGCCATGTTGGGGTTTGTGGGTCGGGTGGCCGCTGCTCCGGCCTCCGGGGCCTTGCGGAGACTCACCCCTTCAGCGTCGCTGCC
CCCAGCTCAGCTCTTACTGCGGGCCGCTCCGACGGCGGTCCATCCTGAGAGGTGTCATGGGCTTCCAAAAGTTCTCCCCCTTCCTGGCTC
TCAGCATCTTGGTCCTGTTGCAGGCAGGCAGCCTCCATGCAGCACCATTCAGGTCTGCCCTGGAGAGCAGCCCAGCAGACCCGGCCACGC
TCAGTGAGGACGAAGCGCGCCTCCTGCTGGCTGCACTGGTGCAGAACTATGTGCAGATGAAGGCCAGTGAGCTGGAGCAGGAGCAAGAGA
GAGAGGGCTCCAGAATCATTGCCCAGAAGAGAGCCTGTGACACTGCCACCTGTGTGACTCATCGGCTGGCAGGCTTGCTGAGCAGATCAG
GGGGTGTGGTGAAGAACAACTTTGTGCCCACCAATGTGGGTTCCAAAGCCTTTGGCAGGCGCCGCAGGGACCTTCAAGCCTGAGCAGCTG
AATGACTCAAGAAGGTCACAATAAAGCTGAACTCCTTTTAATGTGTAATGAAAGCAATTTGTAGGAAAGGCTCCATGGAAGACATACATA
TAGGCATCCTTCTTGATACTGAAAACTATCTTCTTTGTTTGAAAGGAACTATTGCTAAATGCAGAACAAGCTCATTGCAGTTACCTATTG
TGCATCTTTTTAAATACTTGATTATGTAACCATAAATCTGACAGCATGTCTCATTGGCTTATCTGGTAGCAAATCTAGGCCCCGTCAGCC
ACCCTATTGACATTGGTGGCTCTGCTAAACCTCAGGGGGACATGAAATCACTGCCTCTTGGGCATCTGGGGACACATGGTAATGCTGTGC

>In-frame_ENST00000552919_ENST00000486207_TCGA-80-5608-01A_ATP5B_chr12_57039621_-_CALCA_chr11_14992747_length(amino acids)=170AA_start in transcript=20_stop in transcript=532
MWVGWPLLRPPGPCGDSPLQRRCPQLSSYCGPLRRRSILRGVMGFQKFSPFLALSILVLLQAGSLHAAPFRSALESSPADPATLSEDEAR

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

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Fusion Gene PPI Analysis for ATP5B-CALCA


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 ATP5B-CALCA


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 ATP5B-CALCA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCALCAC0020429Hyperalgesia4CTD_human
TgeneCALCAC0458247Allodynia4CTD_human
TgeneCALCAC0751211Hyperalgesia, Primary4CTD_human
TgeneCALCAC0751212Hyperalgesia, Secondary4CTD_human
TgeneCALCAC0751213Tactile Allodynia4CTD_human
TgeneCALCAC0751214Hyperalgesia, Thermal4CTD_human
TgeneCALCAC2936719Mechanical Allodynia4CTD_human
TgeneCALCAC0007370Catalepsy3CTD_human
TgeneCALCAC0233612Waxy flexibility3CTD_human
TgeneCALCAC0007852Cervical Migraine Syndrome2CTD_human
TgeneCALCAC0018984Hemicrania migraine2CTD_human
TgeneCALCAC0020437Hypercalcemia2CTD_human
TgeneCALCAC0020538Hypertensive disease2CTD_human
TgeneCALCAC0026141Milk-Alkali Syndrome2CTD_human
TgeneCALCAC0085129Bronchial Hyperreactivity2CTD_human
TgeneCALCAC0149931Migraine Disorders2CTD_human
TgeneCALCAC0270858Abdominal Migraine2CTD_human
TgeneCALCAC0338480Common Migraine2CTD_human
TgeneCALCAC0338489Status Migrainosus2CTD_human
TgeneCALCAC0521664Acute Confusional Migraine2CTD_human
TgeneCALCAC0700438Sick Headaches2CTD_human
TgeneCALCAC0751217Hyperkinesia, Generalized2CTD_human
TgeneCALCAC3887506Hyperkinesia2CTD_human
TgeneCALCAC0003865Arthritis, Adjuvant-Induced1CTD_human
TgeneCALCAC0004352Autistic Disorder1CTD_human
TgeneCALCAC0013080Down Syndrome1CTD_human
TgeneCALCAC0013604Edema1CTD_human
TgeneCALCAC0020542Pulmonary Hypertension1CTD_human
TgeneCALCAC0020796Profound Mental Retardation1CTD_human
TgeneCALCAC0021368Inflammation1CTD_human
TgeneCALCAC0025363Mental Retardation, Psychosocial1CTD_human
TgeneCALCAC0029408Degenerative polyarthritis1CTD_human
TgeneCALCAC0033578Prostatic Neoplasms1CTD_human
TgeneCALCAC0034069Pulmonary Fibrosis1CTD_human
TgeneCALCAC0040997Trigeminal Neuralgia1CTD_human
TgeneCALCAC0086743Osteoarthrosis Deformans1CTD_human
TgeneCALCAC0149940Sciatic Neuropathy1CTD_human
TgeneCALCAC0151603Anasarca1CTD_human
TgeneCALCAC0154748Lesion of Sciatic Nerve1CTD_human
TgeneCALCAC0242013Sciatic Neuritis1CTD_human
TgeneCALCAC0344315Depressed mood1PSYGENET
TgeneCALCAC0376358Malignant neoplasm of prostate1CTD_human
TgeneCALCAC0393786Trigeminal Neuralgia, Idiopathic1CTD_human
TgeneCALCAC0393787Secondary Trigeminal Neuralgia1CTD_human
TgeneCALCAC0432416Down Syndrome, Partial Trisomy 211CTD_human
TgeneCALCAC0432417Trisomy 21, Meiotic Nondisjunction1CTD_human
TgeneCALCAC0600467Neurogenic Inflammation1CTD_human
TgeneCALCAC0751081Trisomy 21, Mitotic Nondisjunction1CTD_human
TgeneCALCAC0751924Neuralgia-Neuritis, Sciatic Nerve1CTD_human
TgeneCALCAC0751925Sciatic Nerve Palsy1CTD_human
TgeneCALCAC0917816Mental deficiency1CTD_human
TgeneCALCAC0971858Arthritis, Collagen-Induced1CTD_human
TgeneCALCAC0993582Arthritis, Experimental1CTD_human
TgeneCALCAC3714756Intellectual Disability1CTD_human
TgeneCALCAC4721507Alveolitis, Fibrosing1CTD_human