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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: 4901

FusionGeneSummary for C20orf96_KMT2D

check button Fusion gene summary
Fusion gene informationFusion gene name: C20orf96_KMT2D
Fusion gene ID: 4901
HgeneTgene
Gene symbol

C20orf96

KMT2D

Gene ID

140680

8085

Gene namechromosome 20 open reading frame 96lysine methyltransferase 2D
SynonymsdJ1103G7.2AAD10|ALR|CAGL114|KABUK1|KMS|MLL2|MLL4|TNRC21
Cytomap

20p13

12q13.12

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C20orf96histone-lysine N-methyltransferase 2DALL1-related proteinKabuki make-up syndromeKabuki mental retardation syndromehistone-lysine N-methyltransferase MLL2lysine (K)-specific methyltransferase 2Dlysine N-methyltransferase 2Dmyeloid/lymphoid or mixed-
Modification date2018051920180523
UniProtAcc

Q9NUD7

O14686

Ensembl transtripts involved in fusion geneENST00000382369, ENST00000360321, 
ENST00000400269, 
ENST00000301067, 
ENST00000549743, 
Fusion gene scores* DoF score2 X 2 X 1=47 X 8 X 2=112
# samples 28
** MAII scorelog2(2/4*10)=2.32192809488736log2(8/112*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C20orf96 [Title/Abstract] AND KMT2D [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
TgeneKMT2D

GO:0043627

response to estrogen

16603732


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
ChiTaRS3.1AA862350C20orf96chr20

256679

+KMT2Dchr12

49437684

+
* 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
intron-3CDSENST00000382369ENST00000301067C20orf96chr20

256679

+KMT2Dchr12

49437684

+
intron-intronENST00000382369ENST00000549743C20orf96chr20

256679

+KMT2Dchr12

49437684

+
intron-3CDSENST00000360321ENST00000301067C20orf96chr20

256679

+KMT2Dchr12

49437684

+
intron-intronENST00000360321ENST00000549743C20orf96chr20

256679

+KMT2Dchr12

49437684

+
intron-3CDSENST00000400269ENST00000301067C20orf96chr20

256679

+KMT2Dchr12

49437684

+
intron-intronENST00000400269ENST00000549743C20orf96chr20

256679

+KMT2Dchr12

49437684

+

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FusionProtFeatures for C20orf96_KMT2D


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C20orf96

Q9NUD7

KMT2D

O14686

Histone methyltransferase. Methylates 'Lys-4' of histoneH3 (H3K4me). H3K4me represents a specific tag for epigenetictranscriptional activation. Acts as a coactivator for estrogenreceptor by being recruited by ESR1, thereby activatingtranscription. {ECO:0000269|PubMed:16603732,ECO:0000269|PubMed:17500065, ECO:0000269|PubMed:17851529}.

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 C20orf96_KMT2D


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 C20orf96_KMT2D


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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RelatedDrugs for C20orf96_KMT2D


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 C20orf96_KMT2D


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKMT2DC0796004Kabuki make-up syndrome5CTD_human;ORPHANET;UNIPROT
TgeneKMT2DC0005695Bladder Neoplasm1CTD_human
TgeneKMT2DC0010701Phyllodes Tumor1CTD_human
TgeneKMT2DC0021364Male infertility1CTD_human
TgeneKMT2DC0024301Lymphoma, Follicular1CTD_human
TgeneKMT2DC0036920Sezary Syndrome1CTD_human
TgeneKMT2DC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneKMT2DC0079772T-Cell Lymphoma1CTD_human
TgeneKMT2DC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneKMT2DC1458155Mammary Neoplasms1CTD_human