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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: 2969

FusionGeneSummary for ASH1L_RC3H1

check button Fusion gene summary
Fusion gene informationFusion gene name: ASH1L_RC3H1
Fusion gene ID: 2969
HgeneTgene
Gene symbol

ASH1L

RC3H1

Gene ID

55870

149041

Gene nameASH1 like histone lysine methyltransferasering finger and CCCH-type domains 1
SynonymsASH1|ASH1L1|KMT2H|MRD52RNF198|ROQUIN
Cytomap

1q22

1q25.1

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase ASH1LASH1-like proteinabsent small and homeotic disks protein 1 homologash1 (absent, small, or homeotic)-likelysine N-methyltransferase 2Hprobable histone-lysine N-methyltransferase ASH1Lroquin-1RING finger and C3H zinc finger protein 1RING finger and CCCH-type zinc finger domain-containing protein 1RING finger protein 198probable E3 ubiquitin-protein ligase Roquin
Modification date2018051920180523
UniProtAcc

Q9NR48

Q5TC82

Ensembl transtripts involved in fusion geneENST00000368346, ENST00000392403, 
ENST00000548830, 
ENST00000258349, 
ENST00000367696, ENST00000367694, 
Fusion gene scores* DoF score27 X 14 X 13=49142 X 2 X 2=8
# samples 302
** MAII scorelog2(30/4914*10)=-4.03386345186628
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ASH1L [Title/Abstract] AND RC3H1 [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
HgeneASH1L

GO:0097676

histone H3-K36 dimethylation

26002201

TgeneRC3H1

GO:0000209

protein polyubiquitination

26489670

TgeneRC3H1

GO:0000956

nuclear-transcribed mRNA catabolic process

25026078


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
TCGARVSARCTCGA-DX-AB2S-01AASH1Lchr1

155531944

-RC3H1chr1

173962273

-
* 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
5UTR-intronENST00000368346ENST00000258349ASH1Lchr1

155531944

-RC3H1chr1

173962273

-
5UTR-5UTRENST00000368346ENST00000367696ASH1Lchr1

155531944

-RC3H1chr1

173962273

-
5UTR-intronENST00000368346ENST00000367694ASH1Lchr1

155531944

-RC3H1chr1

173962273

-
5UTR-intronENST00000392403ENST00000258349ASH1Lchr1

155531944

-RC3H1chr1

173962273

-
5UTR-5UTRENST00000392403ENST00000367696ASH1Lchr1

155531944

-RC3H1chr1

173962273

-
5UTR-intronENST00000392403ENST00000367694ASH1Lchr1

155531944

-RC3H1chr1

173962273

-
5UTR-intronENST00000548830ENST00000258349ASH1Lchr1

155531944

-RC3H1chr1

173962273

-
5UTR-5UTRENST00000548830ENST00000367696ASH1Lchr1

155531944

-RC3H1chr1

173962273

-
5UTR-intronENST00000548830ENST00000367694ASH1Lchr1

155531944

-RC3H1chr1

173962273

-

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FusionProtFeatures for ASH1L_RC3H1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ASH1L

Q9NR48

RC3H1

Q5TC82

Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). {ECO:0000269|PubMed:21239497}. Post-transcriptional repressor of mRNAs containing aconserved stem loop motif, called constitutive decay element(CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS,IER3, NFKBID, NFKBIZ, PPP1R10, TNF, TNFRSF4 and in many more mRNAs(PubMed:25026078). Cleaves translationally inactive mRNAsharboring a stem-loop (SL), often located in their 3'-UTRs, duringthe early phase of inflammation in a helicase UPF1-independentmanner (By similarity). Binds to CDE and promotes mRNAdeadenylation and degradation. This process does not involvemiRNAs (By similarity). In follicular helper T (Tfh) cells,represses of ICOS and TNFRSF4 expression, thus preventingspontaneous Tfh cell differentiation, germinal center B-celldifferentiation in the absence of immunization and autoimmunity(By similarity). In resting or LPS-stimulated macrophages,controls inflammation by suppressing TNF expression (Bysimilarity). Also recognizes CDE in its own mRNA and in that ofparalogous RC3H2, possibly leading to feedback loop regulation (Bysimilarity). Recognizes and binds mRNAs containing an hexaloopstem-loop motif, called alternative decay element (ADE) (Bysimilarity). Able to interact with double-stranded RNA (dsRNA)(PubMed:25504471, PubMed:25026078). miRNA-binding protein thatregulates microRNA homeostasis. Enhances DICER-mediated processingof pre-MIR146a but reduces mature MIR146a levels through anincrease of 3' end uridylation. Both inhibits ICOS mRNA expressionand they may act together to exert the suppression(PubMed:25697406). Acts as a ubiquitin E3 ligase. Pairs with E2enzymes UBE2A, UBE2B, UBE2D2, UBE2F, UBE2G1, UBE2G2 and UBE2L3 andproduces polyubiquitin chains (PubMed:26489670). Show thestrongest activity when paired with UBE2N:UBE2V1 or UBE2N:UBE2V2E2 complexes and generate both short and long polyubiquitin chains(PubMed:26489670). {ECO:0000250|UniProtKB:Q4VGL6,ECO:0000269|PubMed:25026078, ECO:0000269|PubMed:25504471,ECO:0000269|PubMed:25697406, ECO:0000269|PubMed:26489670}.

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 ASH1L_RC3H1


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 ASH1L_RC3H1


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
ASH1LHIST1H3A, H3F3A, SMAD7, THAP7, MORF4L1, PARD6A, SIKE1, MORF4L2, NXF2, CDX1RC3H1CDA, DDX6, DDX1, ZC3H7B, WWOX, TNF, UBE2B, UBE2D2, UBE2G2, UBE2A, UBE2L3, UBE2F, UBE2G1, UBE2N, UBE2V1, UBE2V2, ACTG1, AKAP8L, ALB, ATP5A1, ATP5C1, C11orf84, CNOT11, CAD, CCDC124, CCT6A, CD2BP2, CIRBP, CKM, CLASP2, CMAS, CNOT1, CNOT10, CNOT2, CNOT3, CNOT6L, CNOT7, CNOT8, YBX3, DCD, DDX17, DDX46, E2F7, EDF1, EEF1D, EIF3I, EIF4B, EIF4G1, ERH, FARSA, FAU, FBL, FUS, GCN1L1, HIST1H1C, HNRNPA2B1, HNRNPK, HNRNPR, HNRNPU, HSPA5, HSPA6, HSPD1, IRS4, CAMSAP3, CCAR2, KIF11, KRT2, KRT5, KRT9, LARP1, LUC7L, LUC7L2, MAP7, MATR3, MCM7, MGA, MRPL14, MRPL24, NCAPH, NCL, NONO, NPM1, NUFIP2, OGT, OTUD4, PABPN1, PARP1, PEG10, PHGDH, PPIA, PPIB, PRDX4, PRPF31, PRPF6, PRSS3, PSMC3, PSMD11, PUM1, RAN, RAVER1, RBM3, RC3H2, RCC2, RIOK1, RNF219, RPL11, RPL12, RPL13, RPL18, RPL22, RPL23, RPL23A, RPL24, RPL27A, RPL28, RPL29, RPL30, RPL38, RPL4, RPL7, RPL8, RPL9, RPN1, RPS10, RPS11, RPS13, RPS14, RPS15A, RPS16, RPS17, RPS19, RPS2, RPS20, RPS24, RPS25, RPS3, RPS3A, RPS5, RPS6, RPS7, RPS8, RQCD1, SEC16A, SERBP1, SF3B2, SFPQ, SLC25A11, SLC25A3, SLC25A5, SMC2, SNRNP200, SNRPD2, SNRPD3, SRRM2, STAU1, STK38, STK38L, TNKS1BP1, TPM2, TRIM21, TRIM28, TYRP1, UBAP2L, VARS, VIM, WIZ, XRCC6, ZC3H4, ZBTB14, ZNF326, ZRANB2, 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 ASH1L_RC3H1


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 ASH1L_RC3H1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASH1LC0023903Liver neoplasms1CTD_human