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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:RASAL2-GALNTL6

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RASAL2-GALNTL6
FusionPDB ID: 72421
FusionGDB2.0 ID: 72421
HgeneTgene
Gene symbol

RASAL2

GALNTL6

Gene ID

9462

442117

Gene nameRAS protein activator like 2polypeptide N-acetylgalactosaminyltransferase like 6
SynonymsNGAPGALNACT20|GALNT17|GalNAc-T6L
Cytomap

1q25.2

4q34.1

Type of geneprotein-codingprotein-coding
Descriptionras GTPase-activating protein nGAPRASAL2/ACVR1 fusionRas protein activator like 1polypeptide N-acetylgalactosaminyltransferase-like 6GaNTase 17GalNAc transferase 17UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 17UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 20UDP-N-acetyl-alpha-D-gala
Modification date2020031320200313
UniProtAcc.

Q49A17

Ensembl transtripts involved in fusion geneENST idsENST00000367649, ENST00000448150, 
ENST00000462775, ENST00000465723, 
ENST00000457021, ENST00000511251, 
ENST00000506823, ENST00000508122, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score19 X 13 X 10=247016 X 15 X 8=1920
# samples 2018
** MAII scorelog2(20/2470*10)=-3.62643913669732
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1920*10)=-3.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: RASAL2 [Title/Abstract] AND GALNTL6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RASAL2(178269253)-GALNTL6(173730512), # samples:3
Anticipated loss of major functional domain due to fusion event.RASAL2-GALNTL6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
RASAL2-GALNTL6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
RASAL2-GALNTL6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
RASAL2-GALNTL6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
TgeneGALNTL6

GO:0018243

protein O-linked glycosylation via threonine

22186971


check buttonFusion gene breakpoints across RASAL2 (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 GALNTL6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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-78-8640-01ARASAL2chr1

178269253

-GALNTL6chr4

173730512

+
ChimerDB4LUADTCGA-78-8640-01ARASAL2chr1

178269253

+GALNTL6chr4

173730512

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000448150RASAL2chr1178269253+ENST00000506823GALNTL6chr4173730512+393312214102473687
ENST00000448150RASAL2chr1178269253+ENST00000508122GALNTL6chr4173730512+247412214102473688
ENST00000367649RASAL2chr1178269253+ENST00000506823GALNTL6chr4173730512+35218091662061631
ENST00000367649RASAL2chr1178269253+ENST00000508122GALNTL6chr4173730512+20628091662061632

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
ENST00000448150ENST00000506823RASAL2chr1178269253+GALNTL6chr4173730512+0.002183930.9978161
ENST00000448150ENST00000508122RASAL2chr1178269253+GALNTL6chr4173730512+0.0108446370.98915535
ENST00000367649ENST00000506823RASAL2chr1178269253+GALNTL6chr4173730512+0.001210740.99878925
ENST00000367649ENST00000508122RASAL2chr1178269253+GALNTL6chr4173730512+0.0052043860.9947956

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>72421_72421_1_RASAL2-GALNTL6_RASAL2_chr1_178269253_ENST00000367649_GALNTL6_chr4_173730512_ENST00000506823_length(amino acids)=631AA_BP=213
MHRPSLGQWATGKEVRGVRAGCRSGPCPRCALSSSPYRRQGAEPRASPPRSRRLVPLPPRGTMELSPSSGGAAEALSWPEMFPALESDSP
LPPEDLDAVVPVSGAVAGGMLDRILLESVCQQQSWVRVYDVKGPPTHRLSCGQSPYTETTTWERKYCILTDSQLVLLNKEKEIPVEGGQE
QQTDSTKGRCLRRTVSVPSEGQFPEYPPEGATKLEHLKDKLEEYMARFSKVRIVRTKKREGLIRTRLLGASMARGEVLTFLDSHCEVNVN
WLPPLLNQIALNHKTIVCPMIDVIDHNHFGYEAQAGDAMRGAFDWEMYYKRIPIPPELQRADPSDPFESPVMAGGLFAVDRKWFWELGGY
DPGLEIWGGEQYEISFKVWMCGGEMFDVPCSRVGHIYRKYVPYKVPSGTSLARNLKRVAETWMDEFAEYIYQRRPEYRHLSTGDISAQKE
LRKQLKCKDFKWFMAAVAWDVPKYYPPVEPPPAAWGEIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGE
PLHTRKFCFDAISHNSPVTLYDCHGMKGNQLWGYRKDRTLFHPVSNSCMDCNPAEKKIFMARCDPLSETQQWIFEHINMTVLEKFNHHAN

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

>72421_72421_2_RASAL2-GALNTL6_RASAL2_chr1_178269253_ENST00000367649_GALNTL6_chr4_173730512_ENST00000508122_length(amino acids)=632AA_BP=213
MHRPSLGQWATGKEVRGVRAGCRSGPCPRCALSSSPYRRQGAEPRASPPRSRRLVPLPPRGTMELSPSSGGAAEALSWPEMFPALESDSP
LPPEDLDAVVPVSGAVAGGMLDRILLESVCQQQSWVRVYDVKGPPTHRLSCGQSPYTETTTWERKYCILTDSQLVLLNKEKEIPVEGGQE
QQTDSTKGRCLRRTVSVPSEGQFPEYPPEGATKLEHLKDKLEEYMARFSKVRIVRTKKREGLIRTRLLGASMARGEVLTFLDSHCEVNVN
WLPPLLNQIALNHKTIVCPMIDVIDHNHFGYEAQAGDAMRGAFDWEMYYKRIPIPPELQRADPSDPFESPVMAGGLFAVDRKWFWELGGY
DPGLEIWGGEQYEISFKVWMCGGEMFDVPCSRVGHIYRKYVPYKVPSGTSLARNLKRVAETWMDEFAEYIYQRRPEYRHLSTGDISAQKE
LRKQLKCKDFKWFMAAVAWDVPKYYPPVEPPPAAWGEIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGE
PLHTRKFCFDAISHNSPVTLYDCHGMKGNQLWGYRKDRTLFHPVSNSCMDCNPAEKKIFMARCDPLSETQQWIFEHINMTVLEKFNHHAN

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

>72421_72421_3_RASAL2-GALNTL6_RASAL2_chr1_178269253_ENST00000448150_GALNTL6_chr4_173730512_ENST00000506823_length(amino acids)=687AA_BP=269
MKKAAPRRWEGEPPLPGSSASSPGRDPHTPEPGPTLGRGHAGSSSRPGSRPPTAGGLHRPSLGQWATGKEVRGVRAGCRSGPCPRCALSS
SPYRRQGAEPRASPPRSRRLVPLPPRGTMELSPSSGGAAEALSWPEMFPALESDSPLPPEDLDAVVPVSGAVAGGMLDRILLESVCQQQS
WVRVYDVKGPPTHRLSCGQSPYTETTTWERKYCILTDSQLVLLNKEKEIPVEGGQEQQTDSTKGRCLRRTVSVPSEGQFPEYPPEGATKL
EHLKDKLEEYMARFSKVRIVRTKKREGLIRTRLLGASMARGEVLTFLDSHCEVNVNWLPPLLNQIALNHKTIVCPMIDVIDHNHFGYEAQ
AGDAMRGAFDWEMYYKRIPIPPELQRADPSDPFESPVMAGGLFAVDRKWFWELGGYDPGLEIWGGEQYEISFKVWMCGGEMFDVPCSRVG
HIYRKYVPYKVPSGTSLARNLKRVAETWMDEFAEYIYQRRPEYRHLSTGDISAQKELRKQLKCKDFKWFMAAVAWDVPKYYPPVEPPPAA
WGEIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNSPVTLYDCHGMKGNQLWGY

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

>72421_72421_4_RASAL2-GALNTL6_RASAL2_chr1_178269253_ENST00000448150_GALNTL6_chr4_173730512_ENST00000508122_length(amino acids)=688AA_BP=269
MKKAAPRRWEGEPPLPGSSASSPGRDPHTPEPGPTLGRGHAGSSSRPGSRPPTAGGLHRPSLGQWATGKEVRGVRAGCRSGPCPRCALSS
SPYRRQGAEPRASPPRSRRLVPLPPRGTMELSPSSGGAAEALSWPEMFPALESDSPLPPEDLDAVVPVSGAVAGGMLDRILLESVCQQQS
WVRVYDVKGPPTHRLSCGQSPYTETTTWERKYCILTDSQLVLLNKEKEIPVEGGQEQQTDSTKGRCLRRTVSVPSEGQFPEYPPEGATKL
EHLKDKLEEYMARFSKVRIVRTKKREGLIRTRLLGASMARGEVLTFLDSHCEVNVNWLPPLLNQIALNHKTIVCPMIDVIDHNHFGYEAQ
AGDAMRGAFDWEMYYKRIPIPPELQRADPSDPFESPVMAGGLFAVDRKWFWELGGYDPGLEIWGGEQYEISFKVWMCGGEMFDVPCSRVG
HIYRKYVPYKVPSGTSLARNLKRVAETWMDEFAEYIYQRRPEYRHLSTGDISAQKELRKQLKCKDFKWFMAAVAWDVPKYYPPVEPPPAA
WGEIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNSPVTLYDCHGMKGNQLWGY

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

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Fusion Protein Functional Features


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/chr1:178269253/chr4:173730512)
- 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
.GALNTL6

Q49A17

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: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. {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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneGALNTL6chr1:178269253chr4:173730512ENST00000506823413453_585184.33333333333334602.0DomainRicin B-type lectin
TgeneGALNTL6chr1:178269253chr4:173730512ENST00000508122312453_585167.33333333333334585.0DomainRicin B-type lectin
TgeneGALNTL6chr1:178269253chr4:173730512ENST00000506823413306_368184.33333333333334602.0RegionNote=Catalytic subdomain B
TgeneGALNTL6chr1:178269253chr4:173730512ENST00000508122312306_368167.33333333333334585.0RegionNote=Catalytic subdomain B

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRASAL2chr1:178269253chr4:173730512ENST00000367649+318237_243152.333333333333341281.0Compositional biasNote=Poly-Lys
HgeneRASAL2chr1:178269253chr4:173730512ENST00000367649+318922_925152.333333333333341281.0Compositional biasNote=Poly-Ser
HgeneRASAL2chr1:178269253chr4:173730512ENST00000462775+116237_24301140.0Compositional biasNote=Poly-Lys
HgeneRASAL2chr1:178269253chr4:173730512ENST00000462775+116922_92501140.0Compositional biasNote=Poly-Ser
HgeneRASAL2chr1:178269253chr4:173730512ENST00000367649+318149_267152.333333333333341281.0DomainC2
HgeneRASAL2chr1:178269253chr4:173730512ENST00000367649+318327_519152.333333333333341281.0DomainRas-GAP
HgeneRASAL2chr1:178269253chr4:173730512ENST00000367649+31841_158152.333333333333341281.0DomainNote=PH
HgeneRASAL2chr1:178269253chr4:173730512ENST00000462775+116149_26701140.0DomainC2
HgeneRASAL2chr1:178269253chr4:173730512ENST00000462775+116327_51901140.0DomainRas-GAP
HgeneRASAL2chr1:178269253chr4:173730512ENST00000462775+11641_15801140.0DomainNote=PH
TgeneGALNTL6chr1:178269253chr4:173730512ENST00000506823413139_248184.33333333333334602.0RegionNote=Catalytic subdomain A
TgeneGALNTL6chr1:178269253chr4:173730512ENST00000508122312139_248167.33333333333334585.0RegionNote=Catalytic subdomain A
TgeneGALNTL6chr1:178269253chr4:173730512ENST000005068234131_7184.33333333333334602.0Topological domainCytoplasmic
TgeneGALNTL6chr1:178269253chr4:173730512ENST0000050682341329_601184.33333333333334602.0Topological domainLumenal
TgeneGALNTL6chr1:178269253chr4:173730512ENST000005081223121_7167.33333333333334585.0Topological domainCytoplasmic
TgeneGALNTL6chr1:178269253chr4:173730512ENST0000050812231229_601167.33333333333334585.0Topological domainLumenal
TgeneGALNTL6chr1:178269253chr4:173730512ENST000005068234138_28184.33333333333334602.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneGALNTL6chr1:178269253chr4:173730512ENST000005081223128_28167.33333333333334585.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
RASAL2
GALNTL6


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to RASAL2-GALNTL6


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to RASAL2-GALNTL6


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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