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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 33121

FusionGeneSummary for SEL1L_SERTAD2

check button Fusion gene summary
Fusion gene informationFusion gene name: SEL1L_SERTAD2
Fusion gene ID: 33121
HgeneTgene
Gene symbol

SEL1L

SERTAD2

Gene ID

6400

9792

Gene nameSEL1L, ERAD E3 ligase adaptor subunitSERTA domain containing 2
SynonymsPRO1063|SEL1-LIKE|SEL1L1Sei-2|TRIP-Br2|TRIPBR2
Cytomap

14q31.1

2p14

Type of geneprotein-codingprotein-coding
Descriptionprotein sel-1 homolog 1Suppressor of lin 12 (sel-1), C. elegans, homolog ofsel-1 suppressor of lin-12-like 1suppressor of lin-12-like protein 1SERTA domain-containing protein 2transcriptional regulator interacting with the PHD-bromodomain 2transcriptional regulator interacting with the PHS-bromodomain 2
Modification date2018051920180519
UniProtAcc

Q9UBV2

Q14140

Ensembl transtripts involved in fusion geneENST00000336735, ENST00000555824, 
ENST00000313349, ENST00000476805, 
Fusion gene scores* DoF score6 X 6 X 5=1804 X 1 X 4=16
# samples 64
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SEL1L [Title/Abstract] AND SERTAD2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneSERTAD2

GO:0030308

negative regulation of cell growth

16098148


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-67-6217-01ASEL1Lchr14

81993077

-SERTAD2chr2

64864009

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5CDS-5UTRENST00000336735ENST00000313349SEL1Lchr14

81993077

-SERTAD2chr2

64864009

-
5CDS-5UTRENST00000336735ENST00000476805SEL1Lchr14

81993077

-SERTAD2chr2

64864009

-
5CDS-5UTRENST00000555824ENST00000313349SEL1Lchr14

81993077

-SERTAD2chr2

64864009

-
5CDS-5UTRENST00000555824ENST00000476805SEL1Lchr14

81993077

-SERTAD2chr2

64864009

-

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FusionProtFeatures for SEL1L_SERTAD2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SEL1L

Q9UBV2

SERTAD2

Q14140

Plays a role in the endoplasmic reticulum qualitycontrol (ERQC) system also called ER-associated degradation (ERAD)involved in ubiquitin-dependent degradation of misfoldedendoplasmic reticulum proteins (PubMed:16186509). Enhances SYVN1stability. Plays a role in LPL maturation and secretion. Requiredfor normal differentiation of the pancreas epithelium, and fornormal exocrine function and survival of pancreatic cells. Mayplay a role in Notch signaling. {ECO:0000250|UniProtKB:Q9Z2G6,ECO:0000269|PubMed:16186509}. Acts at E2F-responsive promoters as coregulator tointegrate signals provided by PHD- and/or bromodomain-containingtranscription factors. May act as coactivator as well ascorepressor of E2F1-TFDP1 and E2F4-TFDP1 complexes on E2Fconsensus binding sites, which would activate or inhibit E2F-target genes expression. Modulates fat storage by down-regulatingthe expression of key genes involved in adipocyte lipolysis,thermogenesis and oxidative metabolism.{ECO:0000269|PubMed:11331592}.

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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FusionGeneSequence for SEL1L_SERTAD2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SEL1L_SERTAD2


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
SEL1LIGHM, TRA, DERL2, SYVN1, DERL1, EDEM1, FOXRED2, RPN1, UNC93B1, FAM8A1, SARAF, OS9, AUP1, UBXN4, FAF2, UBE2J1, ERN1, ERLEC1, FLOT1, MYH9, SYNJ2BP, BSG, CLN5, EGFR, RPL6, FBXO6, USP19, HEY2, HEY1, SHH, ITGB1, ITGA5, ITGB4, TMEM129, HYOU1, NTRK1, TCTN1, HSP90B1, METTL3, AMFR, EDEM2, EDEM3, HSPA5, ACP5, AMIGO3, SLAMF1, TMEM5, CHST12, CPA5, TPSB2, SMPD1, PSG8, ZPBP2, PTPRE, PTPRO, TRIM25SERTAD2KAT2B, SUPT7L, TRIM28, XPO1, ELAVL1, TRIM25


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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RelatedDrugs for SEL1L_SERTAD2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SEL1L_SERTAD2


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