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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:ASNA1-SHMT2 (FusionGDB2 ID:7192)

Fusion Gene Summary for ASNA1-SHMT2

check button Fusion gene summary
Fusion gene informationFusion gene name: ASNA1-SHMT2
Fusion gene ID: 7192
HgeneTgene
Gene symbol

ASNA1

SHMT2

Gene ID

439

6472

Gene nameguided entry of tail-anchored proteins factor 3, ATPaseserine hydroxymethyltransferase 2
SynonymsARSA-I|ARSA1|ASNA-I|ASNA1|TRC40GLYA|HEL-S-51e|SHMT
Cytomap

19p13.13

12q13.3

Type of geneprotein-codingprotein-coding
DescriptionATPase ASNA1arsA arsenite transporter, ATP-binding, homolog 1golgi to ER traffic 3 homologtransmembrane domain recognition complex 40 kDa ATPase subunitserine hydroxymethyltransferase, mitochondrialGLY A+epididymis secretory sperm binding protein Li 51eglycine auxotroph A, human complement for hamsterglycine hydroxymethyltransferaseserine aldolaseserine hydroxymethylaseserine hydroxymethyltransfer
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000357332, ENST00000591090, 
ENST00000393827, ENST00000414700, 
ENST00000449049, ENST00000553474, 
ENST00000554600, ENST00000557487, 
ENST00000328923, 
Fusion gene scores* DoF score8 X 6 X 5=2405 X 5 X 2=50
# samples 95
** MAII scorelog2(9/240*10)=-1.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/50*10)=0
Context

PubMed: ASNA1 [Title/Abstract] AND SHMT2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASNA1(12858892)-SHMT2(57628029), # 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
HgeneASNA1

GO:0071816

tail-anchored membrane protein insertion into ER membrane

25535373

TgeneSHMT2

GO:0006544

glycine metabolic process

25619277|29180469

TgeneSHMT2

GO:0006563

L-serine metabolic process

25619277|29180469

TgeneSHMT2

GO:0006730

one-carbon metabolic process

11516159|29180469|29364879|29452640

TgeneSHMT2

GO:0034340

response to type I interferon

24075985

TgeneSHMT2

GO:0046653

tetrahydrofolate metabolic process

24075985|25619277

TgeneSHMT2

GO:0051262

protein tetramerization

25619277

TgeneSHMT2

GO:0051289

protein homotetramerization

29180469


check buttonFusion gene breakpoints across ASNA1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across SHMT2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChiTaRS5.0N/AEC535118ASNA1chr19

12858892

+SHMT2chr12

57628029

-


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Fusion Gene ORF analysis for ASNA1-SHMT2

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
5CDS-intronENST00000357332ENST00000393827ASNA1chr19

12858892

+SHMT2chr12

57628029

-
5CDS-intronENST00000357332ENST00000414700ASNA1chr19

12858892

+SHMT2chr12

57628029

-
5CDS-intronENST00000357332ENST00000449049ASNA1chr19

12858892

+SHMT2chr12

57628029

-
5CDS-intronENST00000357332ENST00000553474ASNA1chr19

12858892

+SHMT2chr12

57628029

-
5CDS-intronENST00000357332ENST00000554600ASNA1chr19

12858892

+SHMT2chr12

57628029

-
5CDS-intronENST00000357332ENST00000557487ASNA1chr19

12858892

+SHMT2chr12

57628029

-
5CDS-intronENST00000591090ENST00000393827ASNA1chr19

12858892

+SHMT2chr12

57628029

-
5CDS-intronENST00000591090ENST00000414700ASNA1chr19

12858892

+SHMT2chr12

57628029

-
5CDS-intronENST00000591090ENST00000449049ASNA1chr19

12858892

+SHMT2chr12

57628029

-
5CDS-intronENST00000591090ENST00000553474ASNA1chr19

12858892

+SHMT2chr12

57628029

-
5CDS-intronENST00000591090ENST00000554600ASNA1chr19

12858892

+SHMT2chr12

57628029

-
5CDS-intronENST00000591090ENST00000557487ASNA1chr19

12858892

+SHMT2chr12

57628029

-
In-frameENST00000357332ENST00000328923ASNA1chr19

12858892

+SHMT2chr12

57628029

-
In-frameENST00000591090ENST00000328923ASNA1chr19

12858892

+SHMT2chr12

57628029

-

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)
ENST00000591090ASNA1chr1912858892+ENST00000328923SHMT2chr1257628029-194712621021208368
ENST00000357332ASNA1chr1912858892+ENST00000328923SHMT2chr1257628029-18591174141120368

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
ENST00000591090ENST00000328923ASNA1chr1912858892+SHMT2chr1257628029-0.0045083980.9954917
ENST00000357332ENST00000328923ASNA1chr1912858892+SHMT2chr1257628029-0.0052854510.99471456

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Fusion Genomic Features for ASNA1-SHMT2


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.
genomic feature

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 ASNA1-SHMT2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:12858892/chr12:57628029)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneASNA1chr19:12858892chr12:57628029ENST00000357332+1745_520349.0Nucleotide bindingATP
HgeneASNA1chr19:12858892chr12:57628029ENST00000591090+1845_520349.0Nucleotide bindingATP


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Fusion Gene Sequence for ASNA1-SHMT2


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.
>7192_7192_1_ASNA1-SHMT2_ASNA1_chr19_12858892_ENST00000357332_SHMT2_chr12_57628029_ENST00000328923_length(transcript)=1859nt_BP=1174nt
GAGCCAGTTCCAAAATGGCGGCAGGGGTGGCCGGGTGGGGGGTTGAGGCAGAGGAGTTCGAAGATGCTCCTGATGTGGAGCCGCTGGAGC
CTACACTTAGCAACATCATCGAGCAGCGCAGCCTGAAGTGGATCTTCGTCGGGGGCAAGGGTGGTGTGGGCAAGACCACCTGCAGCTGCA
GCCTGGCAGTCCAGCTCTCCAAGGGGCGTGAGAGTGTTCTGATCATCTCCACAGACCCAGCACACAACATCTCAGATGCTTTTGACCAGA
AGTTCTCAAAGGTGCCTACCAAGGTCAAAGGCTATGACAACCTCTTTGCTATGGAGATTGACCCCAGCCTGGGCGTGGCGGAGCTGCCTG
ACGAGTTCTTCGAGGAGGACAACATGCTGAGCATGGGCAAGAAGATGATGCAGGAGGCCATGAGCGCATTTCCCGGCATCGATGAGGCCA
TGAGCTATGCCGAGGTCATGAGGCTGGTGAAGGGCATGAACTTCTCGGTGGTGGTATTTGACACGGCACCCACGGGCCACACCCTGAGGC
TGCTCAACTTCCCCACCATCGTGGAGCGGGGCCTGGGCCGGCTTATGCAGATCAAGAACCAGATCAGCCCTTTCATCTCACAGATGTGCA
ACATGCTGGGCCTGGGGGACATGAACGCAGACCAGCTGGCCTCCAAGCTGGAGGAGACGCTGCCCGTCATCCGCTCAGTCAGCGAACAGT
TCAAGGACCCTGAGCAGACAACTTTCATCTGCGTATGCATTGCTGAGTTCCTGTCCCTGTATGAGACAGAGAGGCTGATCCAGGAGCTGG
CCAAGTGCAAGATTGACACACACAATATAATTGTCAACCAGCTCGTCTTCCCCGACCCCGAGAAGCCCTGCAAGATGTGTGAGGCCCGTC
ACAAGATCCAGGCCAAGTATCTGGACCAGCCTACAAGCCCCCCAGTGCCCAGTAGCACAGCTGCCAGCCCCAACCGCTGCCATTTCACAC
TCACCCTCCACCCTCCCCACCCCCTCGGGGCAGAGTTTGCACAAAGTCCCCCCCATAATACAGGGGGAGCCACTTGGGCAGGAGGCAGGG
AGGGGTCCATTCCCCCTGGTGGGGCTGGTGGGGAGCTGTAGTTGCCCCCTACCTCTCCCACCTCTTGCTCTTCAATAAAATGATCTTAAA
CTGCTTTCAAATCCTTCCTGCTTAAGGACTCAGAAACAAGTCAGCGTCTGGCCAACCTCAGGCAACGGGTGGAGCAGTTTGCCAGGGCCT
TCCCCATGCCTGGTTTTGATGAGCATTGAAGGCACCTGGGAAATGAGGCCCACAGACTCAAAGTTACTCTCCTTCCCCCTACCTGGGCCA
GTGAAATAGAAAGCCTTTCTATTTTTTGGTGCGGGAGGGAAGACCTCTCACTTAGGGCAAGAGCCAGGTATAGTCTCCCTTCCCAGAATT
TGTAACTGAGAAGATCTTTTCTTTTTCCTTTTTTTGGTAACAAGACTTAGAAGGAGGGCCCAGGCACTTTCTGTTTGAACCCCTGTCATG
ATCACAGTGTCAGAGACGCGTCCTCTTTCTTGGGGAAGTTGAGGAGTGCCCTTCAGAGCCAGTAGCAGGCAGGGGTGGGTAGGCACCCTC
CTTCCTGTTTTTATCTAATAAAATGCTAACCTGCCCTGAGTTTCCATTACTGTGGGTGGGGTTCCCCTGGGCCAAACAGTGATTTGTCTC
CCTCAATGTGTACACCGCTCCGCTCCCACCACCGCTACCACAAGGACCCCCGGGGCTGCAGCCTCCTCTTTCTGTCTCTGATCAGAGCCG

>7192_7192_1_ASNA1-SHMT2_ASNA1_chr19_12858892_ENST00000357332_SHMT2_chr12_57628029_ENST00000328923_length(amino acids)=368AA_BP=
MAAGVAGWGVEAEEFEDAPDVEPLEPTLSNIIEQRSLKWIFVGGKGGVGKTTCSCSLAVQLSKGRESVLIISTDPAHNISDAFDQKFSKV
PTKVKGYDNLFAMEIDPSLGVAELPDEFFEEDNMLSMGKKMMQEAMSAFPGIDEAMSYAEVMRLVKGMNFSVVVFDTAPTGHTLRLLNFP
TIVERGLGRLMQIKNQISPFISQMCNMLGLGDMNADQLASKLEETLPVIRSVSEQFKDPEQTTFICVCIAEFLSLYETERLIQELAKCKI
DTHNIIVNQLVFPDPEKPCKMCEARHKIQAKYLDQPTSPPVPSSTAASPNRCHFTLTLHPPHPLGAEFAQSPPHNTGGATWAGGREGSIP

--------------------------------------------------------------
>7192_7192_2_ASNA1-SHMT2_ASNA1_chr19_12858892_ENST00000591090_SHMT2_chr12_57628029_ENST00000328923_length(transcript)=1947nt_BP=1262nt
GTTTGGCTGGTTGCTAAGGTGAGGTTGGCGCTACCGGAACATAAGAGTGATTGGTGTTCTTCGTATGGTGCGCTCCGCTGGATCACGTGA
GCCAGTTCCAAAATGGCGGCAGGGGTGGCCGGGTGGGGGGTTGAGGCAGAGGAGTTCGAAGATGCTCCTGATGTGGAGCCGCTGGAGCCT
ACACTTAGCAACATCATCGAGCAGCGCAGCCTGAAGTGGATCTTCGTCGGGGGCAAGGGTGGTGTGGGCAAGACCACCTGCAGCTGCAGC
CTGGCAGTCCAGCTCTCCAAGGGGCGTGAGAGTGTTCTGATCATCTCCACAGACCCAGCACACAACATCTCAGATGCTTTTGACCAGAAG
TTCTCAAAGGTGCCTACCAAGGTCAAAGGCTATGACAACCTCTTTGCTATGGAGATTGACCCCAGCCTGGGCGTGGCGGAGCTGCCTGAC
GAGTTCTTCGAGGAGGACAACATGCTGAGCATGGGCAAGAAGATGATGCAGGAGGCCATGAGCGCATTTCCCGGCATCGATGAGGCCATG
AGCTATGCCGAGGTCATGAGGCTGGTGAAGGGCATGAACTTCTCGGTGGTGGTATTTGACACGGCACCCACGGGCCACACCCTGAGGCTG
CTCAACTTCCCCACCATCGTGGAGCGGGGCCTGGGCCGGCTTATGCAGATCAAGAACCAGATCAGCCCTTTCATCTCACAGATGTGCAAC
ATGCTGGGCCTGGGGGACATGAACGCAGACCAGCTGGCCTCCAAGCTGGAGGAGACGCTGCCCGTCATCCGCTCAGTCAGCGAACAGTTC
AAGGACCCTGAGCAGACAACTTTCATCTGCGTATGCATTGCTGAGTTCCTGTCCCTGTATGAGACAGAGAGGCTGATCCAGGAGCTGGCC
AAGTGCAAGATTGACACACACAATATAATTGTCAACCAGCTCGTCTTCCCCGACCCCGAGAAGCCCTGCAAGATGTGTGAGGCCCGTCAC
AAGATCCAGGCCAAGTATCTGGACCAGCCTACAAGCCCCCCAGTGCCCAGTAGCACAGCTGCCAGCCCCAACCGCTGCCATTTCACACTC
ACCCTCCACCCTCCCCACCCCCTCGGGGCAGAGTTTGCACAAAGTCCCCCCCATAATACAGGGGGAGCCACTTGGGCAGGAGGCAGGGAG
GGGTCCATTCCCCCTGGTGGGGCTGGTGGGGAGCTGTAGTTGCCCCCTACCTCTCCCACCTCTTGCTCTTCAATAAAATGATCTTAAACT
GCTTTCAAATCCTTCCTGCTTAAGGACTCAGAAACAAGTCAGCGTCTGGCCAACCTCAGGCAACGGGTGGAGCAGTTTGCCAGGGCCTTC
CCCATGCCTGGTTTTGATGAGCATTGAAGGCACCTGGGAAATGAGGCCCACAGACTCAAAGTTACTCTCCTTCCCCCTACCTGGGCCAGT
GAAATAGAAAGCCTTTCTATTTTTTGGTGCGGGAGGGAAGACCTCTCACTTAGGGCAAGAGCCAGGTATAGTCTCCCTTCCCAGAATTTG
TAACTGAGAAGATCTTTTCTTTTTCCTTTTTTTGGTAACAAGACTTAGAAGGAGGGCCCAGGCACTTTCTGTTTGAACCCCTGTCATGAT
CACAGTGTCAGAGACGCGTCCTCTTTCTTGGGGAAGTTGAGGAGTGCCCTTCAGAGCCAGTAGCAGGCAGGGGTGGGTAGGCACCCTCCT
TCCTGTTTTTATCTAATAAAATGCTAACCTGCCCTGAGTTTCCATTACTGTGGGTGGGGTTCCCCTGGGCCAAACAGTGATTTGTCTCCC
TCAATGTGTACACCGCTCCGCTCCCACCACCGCTACCACAAGGACCCCCGGGGCTGCAGCCTCCTCTTTCTGTCTCTGATCAGAGCCGAC

>7192_7192_2_ASNA1-SHMT2_ASNA1_chr19_12858892_ENST00000591090_SHMT2_chr12_57628029_ENST00000328923_length(amino acids)=368AA_BP=
MAAGVAGWGVEAEEFEDAPDVEPLEPTLSNIIEQRSLKWIFVGGKGGVGKTTCSCSLAVQLSKGRESVLIISTDPAHNISDAFDQKFSKV
PTKVKGYDNLFAMEIDPSLGVAELPDEFFEEDNMLSMGKKMMQEAMSAFPGIDEAMSYAEVMRLVKGMNFSVVVFDTAPTGHTLRLLNFP
TIVERGLGRLMQIKNQISPFISQMCNMLGLGDMNADQLASKLEETLPVIRSVSEQFKDPEQTTFICVCIAEFLSLYETERLIQELAKCKI
DTHNIIVNQLVFPDPEKPCKMCEARHKIQAKYLDQPTSPPVPSSTAASPNRCHFTLTLHPPHPLGAEFAQSPPHNTGGATWAGGREGSIP

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

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Fusion Gene PPI Analysis for ASNA1-SHMT2


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 ASNA1-SHMT2


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 ASNA1-SHMT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource