UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use
Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:SASH1-STAB2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SASH1-STAB2
FusionPDB ID: 79237
FusionGDB2.0 ID: 79237
HgeneTgene
Gene symbol

SASH1

STAB2

Gene ID

23328

55576

Gene nameSAM and SH3 domain containing 1stabilin 2
SynonymsCAPOK|DUH1|SH3D6A|dJ323M4.1FEEL2|FELE-2|FELL2|FEX2|HARE|SCARH1
Cytomap

6q24.3-q25.1

12q23.3

Type of geneprotein-codingprotein-coding
DescriptionSAM and SH3 domain-containing protein 1proline-glutamate repeat-containing proteinstabilin-2CD44-like precursor FELLFAS1 EGF-like and X-link domain containing adhesion molecule-2fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-2hepatic hyaluronan clearance receptorhyaluronan receptor for end
Modification date2020031320200313
UniProtAcc

O94885

.
Ensembl transtripts involved in fusion geneENST idsENST00000367467, ENST00000367469, 
ENST00000470750, 		ENST00000388887, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 6 X 6=3247 X 8 X 3=168
# samples 86
** MAII scorelog2(8/324*10)=-2.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/168*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SASH1 [Title/Abstract] AND STAB2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SASH1(148867282)-STAB2(104152911), # samples:2
Anticipated loss of major functional domain due to fusion event.SASH1-STAB2 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.
SASH1-STAB2 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.
SASH1-STAB2 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.
SASH1-STAB2 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
HgeneSASH1

GO:0000209

protein polyubiquitination

23776175

HgeneSASH1

GO:0010595

positive regulation of endothelial cell migration

23776175

HgeneSASH1

GO:1900044

regulation of protein K63-linked ubiquitination

23776175

HgeneSASH1

GO:1902498

regulation of protein autoubiquitination

23776175

TgeneSTAB2

GO:0042742

defense response to bacterium

12077138

TgeneSTAB2

GO:0050830

defense response to Gram-positive bacterium

11829752


check buttonFusion gene breakpoints across SASH1 (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 STAB2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

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
ChimerDB4SARCTCGA-DX-A1L4-01ASASH1chr6

148867282

-STAB2chr12

104152911

+
ChimerDB4SARCTCGA-DX-A1L4-01ASASH1chr6

148867282

+STAB2chr12

104152911

+


Top

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)
ENST00000367467SASH1chr6148867282+ENST00000388887STAB2chr12104152911+4895395515745031448

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
ENST00000367467ENST00000388887SASH1chr6148867282+STAB2chr12104152911+0.0019379210.9980621

Top

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

>79237_79237_1_SASH1-STAB2_SASH1_chr6_148867282_ENST00000367467_STAB2_chr12_104152911_ENST00000388887_length(amino acids)=1448AA_BP=1266
MLLGRANSPPYNSVVRTLPPATLLLRRAGWESFWSCQSRSPWPPRPEVRAPAKGPRGVAGAAGACSAGARLGDAAGGDPASGQAARGCGA
RAPRGLGRTARARDTAMEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNIDDLAQQYADYYNTCF
SDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKG
IMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEE
SVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTW
GAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDF
VYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSVSEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQ
TVSTTDSSTSNRESVKSEDGDDEEPPYRGPFCGRARVHTDFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLS
EDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPTFLFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQS
GSQEKLLVDSQGLSGCSPRDSGCYESSENLENGKTRKASLLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPD
TSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDTWPRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQ
DSAVDNALLLTQSKRFSEPQKLTTKKLEGSIAASGRGLSPPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQ
RMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPSPDAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSEL
PENTSLQEHGVKLGPALTRKVSCARGVDLETLTENKLHAEGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLR
KQHRMATLSGRDIEHHLANVSMFFYNDLVNGTTLQTRLGSKLLITASQDPLQPTETRFVDGRAILQWDIFASNGIIHVISRPLKAPPAPV
TLTHTGLGAGIFFAIILVTGAVALAAYSYFRINRRTIGFQHFESEEDINVAALGKQQPENISNPLYESTTSAPPEPSYDPFTDSEERQLE

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

Top

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/chr6:148867282/chr12:104152911)
- 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
SASH1

O94885

.
FUNCTION: Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubMed:23776175). Regulates TRAF6 and MAP3K7 ubiquitination (PubMed:23776175). Involved in the regulation of cell mobility (PubMed:23333244, PubMed:23776175, PubMed:25315659). Regulates lipolysaccharide (LPS)-induced endothelial cell migration (PubMed:23776175). Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis (PubMed:23333244). {ECO:0000269|PubMed:23333244, ECO:0000269|PubMed:23776175, ECO:0000269|PubMed:25315659}.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSASH1chr6:148867282chr12:104152911ENST00000367467+1920978_10591160.01248.0Compositional biasNote=Pro-rich
HgeneSASH1chr6:148867282chr12:104152911ENST00000367467+19209_331160.01248.0Compositional biasNote=Pro-rich
HgeneSASH1chr6:148867282chr12:104152911ENST00000367467+1920554_6151160.01248.0DomainSH3
HgeneSASH1chr6:148867282chr12:104152911ENST00000367467+1920633_6971160.01248.0DomainSAM 1
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763692480_25512369.02552.0Topological domainCytoplasmic
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763692459_24792369.02552.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSASH1chr6:148867282chr12:104152911ENST00000367467+19201177_12411160.01248.0DomainSAM 2
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369108_1482369.02552.0DomainEGF-like 1
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763691137_12652369.02552.0DomainFAS1 4
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763691343_14082369.02552.0DomainLaminin EGF-like 1
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763691432_14702369.02552.0DomainEGF-like 11
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763691471_15122369.02552.0DomainEGF-like 12
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763691513_15542369.02552.0DomainEGF-like 13
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763691555_15942369.02552.0DomainEGF-like 14
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369156_1932369.02552.0DomainEGF-like 2
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763691596_17242369.02552.0DomainFAS1 5
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763691740_18812369.02552.0DomainFAS1 6
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763691957_20222369.02552.0DomainLaminin EGF-like 2
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369195_2362369.02552.0DomainEGF-like 3
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763692047_20812369.02552.0DomainEGF-like 15
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763692082_21222369.02552.0DomainEGF-like 16
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763692123_21652369.02552.0DomainEGF-like 17
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763692198_22912369.02552.0DomainLink
TgeneSTAB2chr6:148867282chr12:104152911ENST0000038888763692311_24462369.02552.0DomainFAS1 7
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369237_2762369.02552.0DomainEGF-like 4
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369322_3622369.02552.0DomainEGF-like 5
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369371_5052369.02552.0DomainFAS1 1
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369515_6522369.02552.0DomainFAS1 2
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369736_7762369.02552.0DomainEGF-like 6
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369826_8662369.02552.0DomainEGF-like 7
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369867_9092369.02552.0DomainEGF-like 8
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369910_9522369.02552.0DomainEGF-like 9
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369953_9922369.02552.0DomainEGF-like 10
TgeneSTAB2chr6:148867282chr12:104152911ENST000003888876369994_11272369.02552.0DomainFAS1 3
TgeneSTAB2chr6:148867282chr12:104152911ENST00000388887636920_24582369.02552.0Topological domainExtracellular


Top

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
SASH1all structure
STAB2


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


Top

Related Drugs to SASH1-STAB2


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

Top

Related Diseases to SASH1-STAB2


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
HgeneSASH1C2675711Dyschromatosis Universalis Hereditaria 16CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneSASH1C3492944Lentiginosis Profusa1ORPHANET