![]() |
||||||
|
![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ASNA1-SHMT2 (FusionGDB2 ID:HG439TG6472) |
Fusion Gene Summary for ASNA1-SHMT2 |
![]() |
Fusion gene information | Fusion gene name: ASNA1-SHMT2 | Fusion gene ID: hg439tg6472 | Hgene | Tgene | Gene symbol | ASNA1 | SHMT2 | Gene ID | 439 | 6472 |
Gene name | guided entry of tail-anchored proteins factor 3, ATPase | serine hydroxymethyltransferase 2 | |
Synonyms | ARSA-I|ARSA1|ASNA-I|ASNA1|TRC40 | GLYA|HEL-S-51e|SHMT | |
Cytomap | ('ASNA1')('SHMT2') 19p13.13 | 12q13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | ATPase ASNA1arsA arsenite transporter, ATP-binding, homolog 1golgi to ER traffic 3 homologtransmembrane domain recognition complex 40 kDa ATPase subunit | serine hydroxymethyltransferase, mitochondrialGLY A+epididymis secretory sperm binding protein Li 51eglycine auxotroph A, human complement for hamsterglycine hydroxymethyltransferaseserine aldolaseserine hydroxymethylaseserine hydroxymethyltransfer | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000357332, ENST00000591090, | ||
Fusion gene scores | * DoF score | 8 X 6 X 5=240 | 5 X 5 X 2=50 |
# samples | 9 | 5 | |
** MAII score | log2(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 breakpoint | ASNA1(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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ASNA1 | GO:0071816 | tail-anchored membrane protein insertion into ER membrane | 25535373 |
Tgene | SHMT2 | GO:0006544 | glycine metabolic process | 25619277|29180469 |
Tgene | SHMT2 | GO:0006563 | L-serine metabolic process | 25619277|29180469 |
Tgene | SHMT2 | GO:0006730 | one-carbon metabolic process | 11516159|29180469|29364879|29452640 |
Tgene | SHMT2 | GO:0034340 | response to type I interferon | 24075985 |
Tgene | SHMT2 | GO:0046653 | tetrahydrofolate metabolic process | 24075985|25619277 |
Tgene | SHMT2 | GO:0051262 | protein tetramerization | 25619277 |
Tgene | SHMT2 | GO:0051289 | protein homotetramerization | 29180469 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
![]() |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
![]() |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Top |
Fusion Gene ORF analysis for ASNA1-SHMT2 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000591090 | ENST00000328923 | ASNA1 | chr19 | 12858892 | + | SHMT2 | chr12 | 57628029 | - | 0.004508398 | 0.9954917 |
ENST00000357332 | ENST00000328923 | ASNA1 | chr19 | 12858892 | + | SHMT2 | chr12 | 57628029 | - | 0.005285451 | 0.99471456 |
Top |
Fusion Genomic Features for ASNA1-SHMT2 |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
![]() |
![]() |
Top |
Fusion Protein Features for ASNA1-SHMT2 |
![]() 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. |
![]() |
![]() |
Hgene | Tgene |
. | . |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | ASNA1 | chr19:12858892 | chr12:57628029 | ENST00000357332 | + | 1 | 7 | 45_52 | 0 | 349.0 | Nucleotide binding | ATP |
Hgene | ASNA1 | chr19:12858892 | chr12:57628029 | ENST00000591090 | + | 1 | 8 | 45_52 | 0 | 349.0 | Nucleotide binding | ATP |
Top |
Fusion Gene Sequence for ASNA1-SHMT2 |
![]() |
>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 -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for ASNA1-SHMT2 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for ASNA1-SHMT2 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for ASNA1-SHMT2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |