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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:SOS1-DTL (FusionGDB2 ID:84674)

Fusion Gene Summary for SOS1-DTL

check button Fusion gene summary
Fusion gene informationFusion gene name: SOS1-DTL
Fusion gene ID: 84674
HgeneTgene
Gene symbol

SOS1

DTL

Gene ID

6654

51514

Gene nameSOS Ras/Rac guanine nucleotide exchange factor 1denticleless E3 ubiquitin protein ligase homolog
SynonymsGF1|GGF1|GINGF|HGF|NS4|SOS-1CDT2|DCAF2|L2DTL|RAMP
Cytomap

2p22.1

1q32.3

Type of geneprotein-codingprotein-coding
Descriptionson of sevenless homolog 1gingival fibromatosis, hereditary, 1guanine nucleotide exchange factordenticleless protein homologDDB1- and CUL4-associated factor 2RA-regulated nuclear matrix-associated proteinlethal(2) denticleless protein homologretinoic acid-regulated nuclear matrix-associated protein
Modification date2020032720200320
UniProtAcc.

Q9NZJ0

Ensembl transtripts involved in fusion geneENST00000426016, ENST00000402219, 
ENST00000395038, ENST00000428721, 
ENST00000472480, 		ENST00000366991, 
ENST00000542077, ENST00000475419, 
Fusion gene scores* DoF score9 X 12 X 9=9725 X 6 X 4=120
# samples 146
** MAII scorelog2(14/972*10)=-2.79552948666081
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SOS1 [Title/Abstract] AND DTL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSOS1(39249711)-DTL(212251515), # samples:3
Anticipated loss of major functional domain due to fusion event.SOS1-DTL seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted 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
TgeneDTL

GO:0000209

protein polyubiquitination

18794347

TgeneDTL

GO:0006511

ubiquitin-dependent protein catabolic process

18794347

TgeneDTL

GO:0006513

protein monoubiquitination

20129063

TgeneDTL

GO:0006974

cellular response to DNA damage stimulus

20129063

TgeneDTL

GO:0009411

response to UV

18794347

TgeneDTL

GO:0019985

translesion synthesis

20129063


check buttonFusion gene breakpoints across SOS1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

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
ChimerDB4UCECTCGA-AX-A3FW-01ASOS1chr2

39249711

-DTLchr1

212251515

+
ChimerDB4UCECTCGA-AX-A3FW-01ASOS1chr2

39249711

-DTLchr1

212251515

+
ChimerDB4UCECTCGA-AX-A3FW-01ASOS1chr2

39249711

-DTLchr1

212251515

+


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Fusion Gene ORF analysis for SOS1-DTL

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
Frame-shiftENST00000426016ENST00000366991SOS1chr2

39249711

-DTLchr1

212251515

+
Frame-shiftENST00000426016ENST00000542077SOS1chr2

39249711

-DTLchr1

212251515

+
5CDS-3UTRENST00000426016ENST00000475419SOS1chr2

39249711

-DTLchr1

212251515

+
Frame-shiftENST00000402219ENST00000366991SOS1chr2

39249711

-DTLchr1

212251515

+
Frame-shiftENST00000402219ENST00000542077SOS1chr2

39249711

-DTLchr1

212251515

+
5CDS-3UTRENST00000402219ENST00000475419SOS1chr2

39249711

-DTLchr1

212251515

+
Frame-shiftENST00000395038ENST00000366991SOS1chr2

39249711

-DTLchr1

212251515

+
Frame-shiftENST00000395038ENST00000542077SOS1chr2

39249711

-DTLchr1

212251515

+
5CDS-3UTRENST00000395038ENST00000475419SOS1chr2

39249711

-DTLchr1

212251515

+
intron-3CDSENST00000428721ENST00000366991SOS1chr2

39249711

-DTLchr1

212251515

+
intron-3CDSENST00000428721ENST00000542077SOS1chr2

39249711

-DTLchr1

212251515

+
intron-3UTRENST00000428721ENST00000475419SOS1chr2

39249711

-DTLchr1

212251515

+
intron-3CDSENST00000472480ENST00000366991SOS1chr2

39249711

-DTLchr1

212251515

+
intron-3CDSENST00000472480ENST00000542077SOS1chr2

39249711

-DTLchr1

212251515

+
intron-3UTRENST00000472480ENST00000475419SOS1chr2

39249711

-DTLchr1

212251515

+

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)

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

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Fusion Genomic Features for SOS1-DTL


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)
SOS1chr239249710-DTLchr1212251514+0.002275850.9977241
SOS1chr239249710-DTLchr1212251514+0.002275850.9977241

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.

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 SOS1-DTL


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.DTL

Q9NZJ0

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: Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control, DNA damage response and translesion DNA synthesis. The DCX(DTL) complex, also named CRL4(CDT2) complex, mediates the polyubiquitination and subsequent degradation of CDT1, CDKN1A/p21(CIP1), FBH1, KMT5A and SDE2 (PubMed:16861906, PubMed:16949367, PubMed:16964240, PubMed:17085480, PubMed:18703516, PubMed:18794347, PubMed:18794348, PubMed:19332548, PubMed:20129063, PubMed:23478441, PubMed:23478445, PubMed:23677613, PubMed:27906959). CDT1 degradation in response to DNA damage is necessary to ensure proper cell cycle regulation of DNA replication (PubMed:16861906, PubMed:16949367, PubMed:17085480). CDKN1A/p21(CIP1) degradation during S phase or following UV irradiation is essential to control replication licensing (PubMed:18794348, PubMed:19332548). KMT5A degradation is also important for a proper regulation of mechanisms such as TGF-beta signaling, cell cycle progression, DNA repair and cell migration (PubMed:23478445). Most substrates require their interaction with PCNA for their polyubiquitination: substrates interact with PCNA via their PIP-box, and those containing the 'K+4' motif in the PIP box, recruit the DCX(DTL) complex, leading to their degradation. In undamaged proliferating cells, the DCX(DTL) complex also promotes the 'Lys-164' monoubiquitination of PCNA, thereby being involved in PCNA-dependent translesion DNA synthesis (PubMed:20129063, PubMed:23478441, PubMed:23478445, PubMed:23677613). The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). {ECO:0000269|PubMed:16861906, ECO:0000269|PubMed:16949367, ECO:0000269|PubMed:16964240, ECO:0000269|PubMed:17085480, ECO:0000269|PubMed:18703516, ECO:0000269|PubMed:18794347, ECO:0000269|PubMed:18794348, ECO:0000269|PubMed:19332548, ECO:0000269|PubMed:20129063, ECO:0000269|PubMed:23478441, ECO:0000269|PubMed:23478445, ECO:0000269|PubMed:23677613, ECO:0000269|PubMed:26431207, ECO:0000269|PubMed:27906959}.

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


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Fusion Gene Sequence for SOS1-DTL


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.

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Fusion Gene PPI Analysis for SOS1-DTL


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 SOS1-DTL


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 SOS1-DTL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSOS1C0028326Noonan Syndrome13CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneSOS1C1853120Noonan Syndrome 411CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneSOS1C1275081Cardio-facio-cutaneous syndrome7CLINGEN
HgeneSOS1C0041409Turner Syndrome, Male2CTD_human
HgeneSOS1C1527404Female Pseudo-Turner Syndrome2CTD_human
HgeneSOS1C4551602Noonan Syndrome 12CTD_human
HgeneSOS1C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneSOS1C0399440Hereditary gingival fibromatosis1ORPHANET
HgeneSOS1C0587248Costello syndrome (disorder)1CLINGEN
TgeneDTLC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneDTLC0036095Salivary Gland Neoplasms1CTD_human
TgeneDTLC0220636Malignant neoplasm of salivary gland1CTD_human
TgeneDTLC2239176Liver carcinoma1CTD_human