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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:B2M-SERPINA1 (FusionGDB2 ID:8722)

Fusion Gene Summary for B2M-SERPINA1

check button Fusion gene summary
Fusion gene informationFusion gene name: B2M-SERPINA1
Fusion gene ID: 8722
HgeneTgene
Gene symbol

B2M

SERPINA1

Gene ID

567

5265

Gene namebeta-2-microglobulinserpin family A member 1
SynonymsIMD43A1A|A1AT|AAT|PI|PI1|PRO2275|alpha1AT|nNIF
Cytomap

15q21.1

14q32.13

Type of geneprotein-codingprotein-coding
Descriptionbeta-2-microglobulinbeta chain of MHC class I moleculesbeta-2-microglobinalpha-1-antitrypsinalpha-1 antitrypsinalpha-1 protease inhibitoralpha-1-antiproteinasealpha-1-antitrypsin nullalpha-1-antitrypsin short transcript variant 1C4alpha-1-antitrypsin short transcript variant 1C5epididymis secretory sperm binding protein
Modification date2020032920200327
UniProtAcc

P61769

.
Ensembl transtripts involved in fusion geneENST00000558401, ENST00000559916, 
ENST00000544417, ENST00000559220, 
ENST00000440909, ENST00000448921, 
ENST00000437397, ENST00000355814, 
ENST00000393087, ENST00000393088, 
ENST00000404814, ENST00000449399, 
ENST00000402629, ENST00000555289, 
Fusion gene scores* DoF score32 X 24 X 12=921616 X 17 X 6=1632
# samples 4318
** MAII scorelog2(43/9216*10)=-4.42173215185285
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1632*10)=-3.18057224564182
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: B2M [Title/Abstract] AND SERPINA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointB2M(45010242)-SERPINA1(94849304), # 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
HgeneB2M

GO:0002726

positive regulation of T cell cytokine production

24643698

HgeneB2M

GO:0007611

learning or memory

26147761

HgeneB2M

GO:0050680

negative regulation of epithelial cell proliferation

28213472

HgeneB2M

GO:0050768

negative regulation of neurogenesis

26147761

HgeneB2M

GO:0090647

modulation of age-related behavioral decline

26147761

HgeneB2M

GO:1900121

negative regulation of receptor binding

9465039

HgeneB2M

GO:1990000

amyloid fibril formation

28468825

HgeneB2M

GO:2000774

positive regulation of cellular senescence

28213472

HgeneB2M

GO:2000978

negative regulation of forebrain neuron differentiation

26147761


check buttonFusion gene breakpoints across B2M (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 SERPINA1 (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
ChimerDB4LIHCTCGA-NI-A4U2-01AB2Mchr15

45010242

+SERPINA1chr14

94849304

-


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Fusion Gene ORF analysis for B2M-SERPINA1

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
3UTR-3CDSENST00000558401ENST00000440909B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000558401ENST00000448921B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000558401ENST00000437397B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000558401ENST00000355814B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000558401ENST00000393087B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000558401ENST00000393088B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000558401ENST00000404814B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000558401ENST00000449399B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000558401ENST00000402629B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-intronENST00000558401ENST00000555289B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000559916ENST00000440909B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000559916ENST00000448921B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000559916ENST00000437397B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000559916ENST00000355814B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000559916ENST00000393087B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000559916ENST00000393088B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000559916ENST00000404814B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000559916ENST00000449399B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000559916ENST00000402629B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-intronENST00000559916ENST00000555289B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000544417ENST00000440909B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000544417ENST00000448921B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000544417ENST00000437397B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000544417ENST00000355814B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000544417ENST00000393087B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000544417ENST00000393088B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000544417ENST00000404814B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000544417ENST00000449399B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-3CDSENST00000544417ENST00000402629B2Mchr15

45010242

+SERPINA1chr14

94849304

-
intron-intronENST00000544417ENST00000555289B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000559220ENST00000440909B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000559220ENST00000448921B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000559220ENST00000437397B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000559220ENST00000355814B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000559220ENST00000393087B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000559220ENST00000393088B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000559220ENST00000404814B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000559220ENST00000449399B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-3CDSENST00000559220ENST00000402629B2Mchr15

45010242

+SERPINA1chr14

94849304

-
3UTR-intronENST00000559220ENST00000555289B2Mchr15

45010242

+SERPINA1chr14

94849304

-

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 B2M-SERPINA1


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 B2M-SERPINA1


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
B2M

P61769

.
FUNCTION: Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553). {ECO:0000269|PubMed:25356553}.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


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Fusion Gene Sequence for B2M-SERPINA1


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 B2M-SERPINA1


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 B2M-SERPINA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneB2MP61769DB09130CopperSmall moleculeApproved|Investigational
HgeneB2MP61769DB09130CopperSmall moleculeApproved|Investigational
HgeneB2MP61769DB09130CopperSmall moleculeApproved|Investigational

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Related Diseases for B2M-SERPINA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneB2MC0022658Kidney Diseases3CTD_human
HgeneB2MC0022660Kidney Failure, Acute3CTD_human
HgeneB2MC1565662Acute Kidney Insufficiency3CTD_human
HgeneB2MC2609414Acute kidney injury3CTD_human
HgeneB2MC1855796Hypoproteinemia, Hypercatabolic2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneB2MC0004364Autoimmune Diseases1CTD_human
HgeneB2MC0013221Drug toxicity1CTD_human
HgeneB2MC0018799Heart Diseases1CTD_human
HgeneB2MC0020455Hypergammaglobulinemia1CTD_human
HgeneB2MC0033578Prostatic Neoplasms1CTD_human
HgeneB2MC0041755Adverse reaction to drug1CTD_human
HgeneB2MC0079744Diffuse Large B-Cell Lymphoma1CTD_human
HgeneB2MC0079774Peripheral T-Cell Lymphoma1CTD_human
HgeneB2MC0268389Amyloidosis, familial visceral1CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneB2MC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneB2MC0376358Malignant neoplasm of prostate1CTD_human
HgeneB2MC1858266Bare Lymphocyte Syndrome, Type I1ORPHANET
HgeneB2MC4302669Autosomal dominant beta2-microglobulinic amyloidosis1ORPHANET
TgeneSERPINA1C0023895Liver diseases6CTD_human
TgeneSERPINA1C0086565Liver Dysfunction6CTD_human
TgeneSERPINA1C0221757alpha 1-Antitrypsin Deficiency6CTD_human;GENOMICS_ENGLAND
TgeneSERPINA1C0023890Liver Cirrhosis3CTD_human
TgeneSERPINA1C0239946Fibrosis, Liver3CTD_human
TgeneSERPINA1C0005586Bipolar Disorder2CTD_human;PSYGENET
TgeneSERPINA1C0024117Chronic Obstructive Airway Disease2CTD_human
TgeneSERPINA1C0030328Panniculitis, Nodular Nonsuppurative2CTD_human
TgeneSERPINA1C0525045Mood Disorders2PSYGENET
TgeneSERPINA1C1527303Chronic Airflow Obstruction2CTD_human
TgeneSERPINA1C2239176Liver carcinoma2CTD_human
TgeneSERPINA1C0001418Adenocarcinoma1CTD_human
TgeneSERPINA1C0003469Anxiety Disorders1CTD_human
TgeneSERPINA1C0003850Arteriosclerosis1CTD_human
TgeneSERPINA1C0003949Asbestosis1CTD_human
TgeneSERPINA1C0005587Depression, Bipolar1CTD_human
TgeneSERPINA1C0006267Bronchiectasis1CTD_human
TgeneSERPINA1C0008370Cholestasis1CTD_human
TgeneSERPINA1C0013221Drug toxicity1CTD_human
TgeneSERPINA1C0013990Pathological accumulation of air in tissues1CTD_human
TgeneSERPINA1C0019080Hemorrhage1CTD_human
TgeneSERPINA1C0019693HIV Infections1CTD_human
TgeneSERPINA1C0020615Hypoglycemia1CTD_human
TgeneSERPINA1C0022660Kidney Failure, Acute1CTD_human
TgeneSERPINA1C0024115Lung diseases1CTD_human;GENOMICS_ENGLAND
TgeneSERPINA1C0024121Lung Neoplasms1CTD_human
TgeneSERPINA1C0024623Malignant neoplasm of stomach1CTD_human
TgeneSERPINA1C0024713Manic Disorder1CTD_human
TgeneSERPINA1C0027627Neoplasm Metastasis1CTD_human
TgeneSERPINA1C0034067Pulmonary Emphysema1CTD_human
TgeneSERPINA1C0034069Pulmonary Fibrosis1CTD_human
TgeneSERPINA1C0038356Stomach Neoplasms1CTD_human
TgeneSERPINA1C0039841Thiamine Deficiency1CTD_human
TgeneSERPINA1C0041755Adverse reaction to drug1CTD_human
TgeneSERPINA1C0042384Vasculitis1CTD_human
TgeneSERPINA1C0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneSERPINA1C0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneSERPINA1C0205643Carcinoma, Cribriform1CTD_human
TgeneSERPINA1C0205644Carcinoma, Granular Cell1CTD_human
TgeneSERPINA1C0205645Adenocarcinoma, Tubular1CTD_human
TgeneSERPINA1C0221227Centriacinar Emphysema1CTD_human
TgeneSERPINA1C0242379Malignant neoplasm of lung1CTD_human
TgeneSERPINA1C0264393Panacinar Emphysema1CTD_human
TgeneSERPINA1C0270715Degenerative Diseases, Central Nervous System1CTD_human
TgeneSERPINA1C0271708Fasting Hypoglycemia1CTD_human
TgeneSERPINA1C0271710Reactive hypoglycemia1CTD_human
TgeneSERPINA1C0338831Manic1CTD_human
TgeneSERPINA1C0376280Anxiety States, Neurotic1CTD_human
TgeneSERPINA1C0524851Neurodegenerative Disorders1CTD_human
TgeneSERPINA1C0751733Degenerative Diseases, Spinal Cord1CTD_human
TgeneSERPINA1C1279420Anxiety neurosis (finding)1CTD_human
TgeneSERPINA1C1565662Acute Kidney Insufficiency1CTD_human
TgeneSERPINA1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneSERPINA1C2350878Focal Emphysema1CTD_human
TgeneSERPINA1C2609414Acute kidney injury1CTD_human
TgeneSERPINA1C2930617Pulmonary Fibrosis - from Asbestos Exposure1CTD_human
TgeneSERPINA1C2930967Gastro-enteropancreatic neuroendocrine tumor1CTD_human
TgeneSERPINA1C4505456HIV Coinfection1CTD_human
TgeneSERPINA1C4721507Alveolitis, Fibrosing1CTD_human