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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: 33693

FusionGeneSummary for SH3RF1_TLL1

check button Fusion gene summary
Fusion gene informationFusion gene name: SH3RF1_TLL1
Fusion gene ID: 33693
HgeneTgene
Gene symbol

SH3RF1

TLL1

Gene ID

57630

7092

Gene nameSH3 domain containing ring finger 1tolloid like 1
SynonymsPOSH|RNF142|SH3MD2ASD6|TLL
Cytomap

4q32.3-q33

4q32.3

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase SH3RF1RING-type E3 ubiquitin transferase SH3RF1SH3 domain-containing RING finger protein 1SH3 multiple domains 2SH3 multiple domains protein 2plenty of SH3 domainsplenty of SH3sputative E3 ubiquitin-protein ligase SH3RF1tolloid-like protein 1
Modification date2018051920180519
UniProtAcc

Q7Z6J0

O43897

Ensembl transtripts involved in fusion geneENST00000284637, ENST00000508685, 
ENST00000061240, ENST00000507499, 
ENST00000513213, 
Fusion gene scores* DoF score6 X 6 X 4=1441 X 1 X 1=1
# samples 61
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: SH3RF1 [Title/Abstract] AND TLL1 [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

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
TCGALDPRADTCGA-EJ-5509-01ASH3RF1chr4

170076631

-TLL1chr4

166946468

+
* 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
Frame-shiftENST00000284637ENST00000061240SH3RF1chr4

170076631

-TLL1chr4

166946468

+
Frame-shiftENST00000284637ENST00000507499SH3RF1chr4

170076631

-TLL1chr4

166946468

+
Frame-shiftENST00000284637ENST00000513213SH3RF1chr4

170076631

-TLL1chr4

166946468

+
5UTR-3CDSENST00000508685ENST00000061240SH3RF1chr4

170076631

-TLL1chr4

166946468

+
5UTR-3CDSENST00000508685ENST00000507499SH3RF1chr4

170076631

-TLL1chr4

166946468

+
5UTR-3CDSENST00000508685ENST00000513213SH3RF1chr4

170076631

-TLL1chr4

166946468

+

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FusionProtFeatures for SH3RF1_TLL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SH3RF1

Q7Z6J0

TLL1

O43897

Has E3 ubiquitin-protein ligase activity. In the absenceof an external substrate, it can catalyze self-ubiquitination(PubMed:15659549, PubMed:20696164). Stimulates ubiquitination ofpotassium channel KCNJ1, enhancing it's dynamin-dependent andclathrin-independent endocytosis (PubMed:19710010). Acts as ascaffold protein that coordinates with MAPK8IP1/JIP1 in organizingdifferent components of the JNK pathway, including RAC1 or RAC2,MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/orMAPK9/JNK2 into a functional multiprotein complex to ensure theeffective activation of the JNK signaling pathway. Regulates thedifferentiation of CD4(+) and CD8(+) T-cells and promotes T-helper1 (Th1) cell differentiation. Regulates the activation ofMAPK8/JNK1 and MAPK9/JNK2 in CD4(+) T-cells and the activation ofMAPK8/JNK1 in CD8(+) T-cells. Plays a crucial role in themigration of neocortical neurons in the developing brain. Controlsproper cortical neuronal migration and the formation of proximalcytoplasmic dilation in the leading process (PCDLP) in migratoryneocortical neurons by regulating the proper localization ofactivated RAC1 and F-actin assembly (By similarity).{ECO:0000250|UniProtKB:Q69ZI1, ECO:0000269|PubMed:15659549,ECO:0000269|PubMed:19710010, ECO:0000269|PubMed:20696164}. (Microbial infection) Plays an essential role in thetargeting of HIV-1 Gag to the plasma membrane, this function isdependent on it's RING domain, and hence it's E3 ligase activity.{ECO:0000269|PubMed:15659549}. Protease which processes procollagen C-propeptides, suchas chordin, pro-biglycan and pro-lysyl oxidase. Required for theembryonic development. Predominant protease, which in thedevelopment, influences dorsal-ventral patterning andskeletogenesis.

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 SH3RF1_TLL1


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 SH3RF1_TLL1


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
SH3RF1AKT2, MAP3K11, MAP4K3, RAC1, PDCD6IP, KCNJ1, SEMA6A, SH3RF2, SIAH1, SIAH2, AKT1, UBE2N, UBE2D3, UBE2D1, YWHAB, NINL, HERPUD1, SH3RF1, FAT1, CDH1, TRIM25TLL1APP, BMP1


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 SH3RF1_TLL1


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 SH3RF1_TLL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTLL1C0036341Schizophrenia1PSYGENET
TgeneTLL1C2751315Atrial Septal Defect 61CTD_human;UNIPROT