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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:AGFG1-SND1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AGFG1-SND1
FusionPDB ID: 2873
FusionGDB2.0 ID: 2873
HgeneTgene
Gene symbol

AGFG1

SND1

Gene ID

3267

27044

Gene nameArfGAP with FG repeats 1staphylococcal nuclease and tudor domain containing 1
SynonymsHRB|RAB|RIPTDRD11|Tudor-SN|p100
Cytomap

2q36.3

7q32.1

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP domain and FG repeat-containing protein 1HIV-1 Rev-binding proteinRab, Rev/Rex activation domain-binding proteinarf-GAP domain and FG repeats-containing protein 1hRIP, Rev interacting proteinnucleoporin-like protein RIPrev-interacting proteistaphylococcal nuclease domain-containing protein 1EBNA2 coactivator p100testis tissue sperm-binding protein Li 82Ptudor domain-containing protein 11
Modification date2020031320200313
UniProtAcc

P52594

Q7KZF4

Ensembl transtripts involved in fusion geneENST idsENST00000310078, ENST00000373671, 
ENST00000409171, ENST00000409315, 
ENST00000409979, ENST00000486932, 
ENST00000467238, ENST00000354725, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 9 X 8=93629 X 24 X 11=7656
# samples 1533
** MAII scorelog2(15/936*10)=-2.64154602908752
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(33/7656*10)=-4.53605290024021
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AGFG1 [Title/Abstract] AND SND1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AGFG1(228356356)-SND1(127484377), # samples:1
Anticipated loss of major functional domain due to fusion event.AGFG1-SND1 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.
AGFG1-SND1 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.
AGFG1-SND1 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.
AGFG1-SND1 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
TgeneSND1

GO:0010587

miRNA catabolic process

28546213


check buttonFusion gene breakpoints across AGFG1 (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 SND1 (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
ChimerDB4STADTCGA-D7-8576-01AAGFG1chr2

228356356

+SND1chr7

127484377

+


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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)
ENST00000409979AGFG1chr2228356356+ENST00000354725SND1chr7127484377+2571531452021658
ENST00000310078AGFG1chr2228356356+ENST00000354725SND1chr7127484377+2561521352011658
ENST00000409315AGFG1chr2228356356+ENST00000354725SND1chr7127484377+2354314231804593
ENST00000373671AGFG1chr2228356356+ENST00000354725SND1chr7127484377+2351311201801593
ENST00000409171AGFG1chr2228356356+ENST00000354725SND1chr7127484377+2351311201801593

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
ENST00000409979ENST00000354725AGFG1chr2228356356+SND1chr7127484377+0.0041632580.99583673
ENST00000310078ENST00000354725AGFG1chr2228356356+SND1chr7127484377+0.0040918170.99590814
ENST00000409315ENST00000354725AGFG1chr2228356356+SND1chr7127484377+0.0050740280.994926
ENST00000373671ENST00000354725AGFG1chr2228356356+SND1chr7127484377+0.0049292140.9950708
ENST00000409171ENST00000354725AGFG1chr2228356356+SND1chr7127484377+0.0049292140.9950708

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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

>2873_2873_1_AGFG1-SND1_AGFG1_chr2_228356356_ENST00000310078_SND1_chr7_127484377_ENST00000354725_length(amino acids)=658AA_BP=162
MSRLCRLVWPVSPRTTAPGPRRAQYSQAAAAGSGAGGARRRRAAAAARAARGTAGPRRSAARLPALPASSLGAAAMAASAKRKQEEKHLK
MLRDMTGLPHNRKCFDCDQRGPTYVNMTVGSFVCTSCSGSLRGLNPPHRVKSISMTTFTQQEIEFLQKHGNEVNVTVDYIRPASPATETV
PAFSERTCATVTIGGINIAEALVSKGLATVIRYRQDDDQRSSHYDELLAAEARAIKNGKGLHSKKEVPIHRVADISGDTQKAKQFLPFLQ
RAGRSEAVVEYVFSGSRLKLYLPKETCLITFLLAGIECPRGARNLPGLVQEGEPFSEEATLFTKELVLQREVEVEVESMDKAGNFIGWLH
IDGANLSVLLVEHALSKVHFTAERSSYYKSLLSAEEAAKQKKEKVWAHYEEQPVEEVMPVLEEKERSASYKPVFVTEITDDLHFYVQDVE
TGTQLEKLMENMRNDIASHPPVEGSYAPRRGEFCIAKFVDGEWYRARVEKVESPAKIHVFYIDYGNREVLPSTRLGTLSPAFSTRVLPAQ
ATEYAFAFIQVPQDDDARTDAVDSVVRDIQNTQCLLNVEHLSAGCPHVTLQFADSKGDVGLGLVKEGLVMVEVRKEKQFQKVITEYLNAQ

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

>2873_2873_2_AGFG1-SND1_AGFG1_chr2_228356356_ENST00000373671_SND1_chr7_127484377_ENST00000354725_length(amino acids)=593AA_BP=97
MPASSLGAAAMAASAKRKQEEKHLKMLRDMTGLPHNRKCFDCDQRGPTYVNMTVGSFVCTSCSGSLRGLNPPHRVKSISMTTFTQQEIEF
LQKHGNEVNVTVDYIRPASPATETVPAFSERTCATVTIGGINIAEALVSKGLATVIRYRQDDDQRSSHYDELLAAEARAIKNGKGLHSKK
EVPIHRVADISGDTQKAKQFLPFLQRAGRSEAVVEYVFSGSRLKLYLPKETCLITFLLAGIECPRGARNLPGLVQEGEPFSEEATLFTKE
LVLQREVEVEVESMDKAGNFIGWLHIDGANLSVLLVEHALSKVHFTAERSSYYKSLLSAEEAAKQKKEKVWAHYEEQPVEEVMPVLEEKE
RSASYKPVFVTEITDDLHFYVQDVETGTQLEKLMENMRNDIASHPPVEGSYAPRRGEFCIAKFVDGEWYRARVEKVESPAKIHVFYIDYG
NREVLPSTRLGTLSPAFSTRVLPAQATEYAFAFIQVPQDDDARTDAVDSVVRDIQNTQCLLNVEHLSAGCPHVTLQFADSKGDVGLGLVK

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

>2873_2873_3_AGFG1-SND1_AGFG1_chr2_228356356_ENST00000409171_SND1_chr7_127484377_ENST00000354725_length(amino acids)=593AA_BP=97
MPASSLGAAAMAASAKRKQEEKHLKMLRDMTGLPHNRKCFDCDQRGPTYVNMTVGSFVCTSCSGSLRGLNPPHRVKSISMTTFTQQEIEF
LQKHGNEVNVTVDYIRPASPATETVPAFSERTCATVTIGGINIAEALVSKGLATVIRYRQDDDQRSSHYDELLAAEARAIKNGKGLHSKK
EVPIHRVADISGDTQKAKQFLPFLQRAGRSEAVVEYVFSGSRLKLYLPKETCLITFLLAGIECPRGARNLPGLVQEGEPFSEEATLFTKE
LVLQREVEVEVESMDKAGNFIGWLHIDGANLSVLLVEHALSKVHFTAERSSYYKSLLSAEEAAKQKKEKVWAHYEEQPVEEVMPVLEEKE
RSASYKPVFVTEITDDLHFYVQDVETGTQLEKLMENMRNDIASHPPVEGSYAPRRGEFCIAKFVDGEWYRARVEKVESPAKIHVFYIDYG
NREVLPSTRLGTLSPAFSTRVLPAQATEYAFAFIQVPQDDDARTDAVDSVVRDIQNTQCLLNVEHLSAGCPHVTLQFADSKGDVGLGLVK

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

>2873_2873_4_AGFG1-SND1_AGFG1_chr2_228356356_ENST00000409315_SND1_chr7_127484377_ENST00000354725_length(amino acids)=593AA_BP=97
MPASSLGAAAMAASAKRKQEEKHLKMLRDMTGLPHNRKCFDCDQRGPTYVNMTVGSFVCTSCSGSLRGLNPPHRVKSISMTTFTQQEIEF
LQKHGNEVNVTVDYIRPASPATETVPAFSERTCATVTIGGINIAEALVSKGLATVIRYRQDDDQRSSHYDELLAAEARAIKNGKGLHSKK
EVPIHRVADISGDTQKAKQFLPFLQRAGRSEAVVEYVFSGSRLKLYLPKETCLITFLLAGIECPRGARNLPGLVQEGEPFSEEATLFTKE
LVLQREVEVEVESMDKAGNFIGWLHIDGANLSVLLVEHALSKVHFTAERSSYYKSLLSAEEAAKQKKEKVWAHYEEQPVEEVMPVLEEKE
RSASYKPVFVTEITDDLHFYVQDVETGTQLEKLMENMRNDIASHPPVEGSYAPRRGEFCIAKFVDGEWYRARVEKVESPAKIHVFYIDYG
NREVLPSTRLGTLSPAFSTRVLPAQATEYAFAFIQVPQDDDARTDAVDSVVRDIQNTQCLLNVEHLSAGCPHVTLQFADSKGDVGLGLVK

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

>2873_2873_5_AGFG1-SND1_AGFG1_chr2_228356356_ENST00000409979_SND1_chr7_127484377_ENST00000354725_length(amino acids)=658AA_BP=162
MSRLCRLVWPVSPRTTAPGPRRAQYSQAAAAGSGAGGARRRRAAAAARAARGTAGPRRSAARLPALPASSLGAAAMAASAKRKQEEKHLK
MLRDMTGLPHNRKCFDCDQRGPTYVNMTVGSFVCTSCSGSLRGLNPPHRVKSISMTTFTQQEIEFLQKHGNEVNVTVDYIRPASPATETV
PAFSERTCATVTIGGINIAEALVSKGLATVIRYRQDDDQRSSHYDELLAAEARAIKNGKGLHSKKEVPIHRVADISGDTQKAKQFLPFLQ
RAGRSEAVVEYVFSGSRLKLYLPKETCLITFLLAGIECPRGARNLPGLVQEGEPFSEEATLFTKELVLQREVEVEVESMDKAGNFIGWLH
IDGANLSVLLVEHALSKVHFTAERSSYYKSLLSAEEAAKQKKEKVWAHYEEQPVEEVMPVLEEKERSASYKPVFVTEITDDLHFYVQDVE
TGTQLEKLMENMRNDIASHPPVEGSYAPRRGEFCIAKFVDGEWYRARVEKVESPAKIHVFYIDYGNREVLPSTRLGTLSPAFSTRVLPAQ
ATEYAFAFIQVPQDDDARTDAVDSVVRDIQNTQCLLNVEHLSAGCPHVTLQFADSKGDVGLGLVKEGLVMVEVRKEKQFQKVITEYLNAQ

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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/chr2:228356356/chr7:127484377)
- 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
AGFG1

P52594

SND1

Q7KZF4

FUNCTION: Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes movement of Rev-responsive element-containing RNAs from the nuclear periphery to the cytoplasm. This step is essential for HIV-1 replication. {ECO:0000250, ECO:0000269|PubMed:10613896, ECO:0000269|PubMed:14701878, ECO:0000269|PubMed:15749819}.FUNCTION: Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs (PubMed:28546213, PubMed:18453631). As part of its function in miRNA decay, regulates mRNAs involved in G1-to-S phase transition (PubMed:28546213). Functions as a bridging factor between STAT6 and the basal transcription factor (PubMed:12234934). Plays a role in PIM1 regulation of MYB activity (PubMed:9809063). Functions as a transcriptional coactivator for STAT5 (By similarity). {ECO:0000250|UniProtKB:Q78PY7, ECO:0000269|PubMed:12234934, ECO:0000269|PubMed:18453631, ECO:0000269|PubMed:28546213, ECO:0000269|PubMed:9809063}.; FUNCTION: (Microbial infection) Functions as a transcriptional coactivator for the Epstein-Barr virus nuclear antigen 2 (EBNA2). {ECO:0000269|PubMed:7651391}.

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
HgeneAGFG1chr2:228356356chr7:127484377ENST00000310078+21329_5287.0563.0Zinc fingerC4-type
HgeneAGFG1chr2:228356356chr7:127484377ENST00000373671+21229_5287.0523.0Zinc fingerC4-type
HgeneAGFG1chr2:228356356chr7:127484377ENST00000409171+21329_5287.0561.0Zinc fingerC4-type
TgeneSND1chr2:228356356chr7:127484377ENST000003547251024525_660414.0911.0DomainTNase-like 4
TgeneSND1chr2:228356356chr7:127484377ENST000003547251024729_787414.0911.0DomainTudor

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAGFG1chr2:228356356chr7:127484377ENST00000310078+21311_13587.0563.0DomainArf-GAP
HgeneAGFG1chr2:228356356chr7:127484377ENST00000373671+21211_13587.0523.0DomainArf-GAP
HgeneAGFG1chr2:228356356chr7:127484377ENST00000409171+21311_13587.0561.0DomainArf-GAP
TgeneSND1chr2:228356356chr7:127484377ENST00000354725102418_166414.0911.0DomainTNase-like 1
TgeneSND1chr2:228356356chr7:127484377ENST000003547251024193_328414.0911.0DomainTNase-like 2
TgeneSND1chr2:228356356chr7:127484377ENST000003547251024341_496414.0911.0DomainTNase-like 3
TgeneSND1chr2:228356356chr7:127484377ENST000003547251024321_325414.0911.0MotifNuclear localization signal
TgeneSND1chr2:228356356chr7:127484377ENST000003547251024388_392414.0911.0MotifNuclear localization signal


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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
SND1IKBKE, SNW1, RBPJ, GTF2E2, GTF2E1, MYB, PIM1, STAT6, POLR2A, USP22, PDPK1, PRKAA1, UBA5, LZTR1, DHX9, CREBBP, RBM39, SIRT7, HHV8GK18_gp81, CUL3, CDK2, CAND1, APP, RPS3, HNRNPM, TOMM22, RPL19, MYBBP1A, SMNDC1, RPS20, NENF, RPL4, VDAC2, ILF2, SRSF3, HNRNPU, RPN1, HNRNPR, SSR3, FN1, VCAM1, CSNK2A1, ITGA4, G3BP1, PRPF8, RNU1-1, RNU2-1, RNU4-1, RNU6-1, RNU5A-1, MAK, TARDBP, EIF3CL, RPS11, RPS2, RPS6, RPS9, DDX3X, RPL23A, RPL35, RPS16, RPS26, RPS27, RPS3A, SHFM1, LIN28A, HUWE1, RAPGEF2, MDM2, CUL7, OBSL1, CCDC8, UBE2I, ESR1, MMP28, TDRD3, TXNDC5, NTRK1, NPM1, RPL10, CNOT1, Eif3a, Pabpc1, Rpl35, Srp72, Rrbp1, MCM2, U2AF2, CDH1, PTP4A1, MTDH, PA2G4, TRAP1, ANXA5, SNRPB2, EIF5B, GPI, IDH2, PDIA3, UBE2N, MRPL12, CRNN, ZNF207, CPNE3, CS, PYGL, SF3A3, DNAJC8, PLS3, CPSF6, NANS, SF3A1, ECHS1, SRP68, MYL12B, AIMP1, CYLD, DLD, DLST, PDHA1, SOD1, TRIM25, BRCA1, YAP1, EFTUD2, AAR2, PIH1D1, CHD3, ESR2, HEXIM1, AGR2, RECQL4, WWP1, MYC, CANX, GRWD1, KIAA1429, ATG16L1, NR2C2, AGRN, BMH2, BMH1, BRF1, AASS, P4HA1, HSP90AA1, HSP90AB1, LRPPRC, HADHA, ATP5C1, SHMT2, MCFD2, ATP5F1, VCP, CTNNB1, BCAP31, DLAT, EPRS, ILF3, PARP1, SFPQ, ALDH16A1, BCL2L13, CCT7, CORO1C, GFM1, PNPT1, SQSTM1, MAB21L2, SNRNP70, GSK3B, ANO7, BIRC3, STAU1, LMBR1L, NFX1, WWP2, Hsp22, TRIM28, PLEKHA4, PINK1, HCVgp1, ZC3H18, FGFR1, EMC4, HNRNPC, M, nsp4, nsp6, nsp8, ORF7b, CAPRIN1, LARP4B, MEX3B, SYNCRIP, TOP3B, UNK, USP10, SDCCAG3, CIT, ANLN, PTGER4, KIF14, FKBP8, PTPN1, ORF9b, LRRC59, SUMO2, NDN, HULC, NUPR1, BRD4, Apc2, LGALS9, IFI16, BKRF1, ASXL1, DNAJC1, DNAJC25, SEC63, H2AFX, TFDP1, MAX, LINC00624, CD274, ISG15, UFL1, DDRGK1, TP53, CKAP4, ELOVL5, EMD, GORASP1, MAPRE1, METTL7A, RPS24, SEC61B, SEC62, SERBP1, SSR1, STIM1, STX4, TMPO, FZR1, HOXA1, NAA40, BGLT3, PSMC3, ARFGAP1, PRPS2, SPINT2, FAM221B, BDH2, SYT6, EP300, CTIF, RCHY1, CCNF, MAP1LC3B, SLFN11, PDE4B, SIRT6,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
AGFG1
SND1all structure


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 AGFG1-SND1


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 AGFG1-SND1


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
TgeneSND1C0004352Autistic Disorder1CTD_human
TgeneSND1C0024121Lung Neoplasms1CTD_human
TgeneSND1C0242379Malignant neoplasm of lung1CTD_human