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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: 18973

FusionGeneSummary for KLF12_COMMD6

check button Fusion gene summary
Fusion gene informationFusion gene name: KLF12_COMMD6
Fusion gene ID: 18973
HgeneTgene
Gene symbol

KLF12

COMMD6

Gene ID

11278

170622

Gene nameKruppel like factor 12COMM domain containing 6
SynonymsAP-2rep|AP2REP|HSPC122Acrg
Cytomap

13q22.1

13q22.2

Type of geneprotein-codingprotein-coding
DescriptionKrueppel-like factor 12AP-2 repressorAP-2rep transcription factorKLF12 zinc finger transcriptional repressortranscriptional repressor AP-2repCOMM domain-containing protein 6Acrg embryonic lethality minimal region ortholog
Modification date2018052320180519
UniProtAcc

Q9Y4X4

Q7Z4G1

Ensembl transtripts involved in fusion geneENST00000377669, ENST00000377666, 
ENST00000472022, 
ENST00000406936, 
ENST00000377615, ENST00000377619, 
ENST00000355801, ENST00000460675, 
Fusion gene scores* DoF score5 X 4 X 3=603 X 4 X 3=36
# samples 74
** MAII scorelog2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KLF12 [Title/Abstract] AND COMMD6 [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
HgeneKLF12

GO:0000122

negative regulation of transcription by RNA polymerase II

16615998

TgeneCOMMD6

GO:0032088

negative regulation of NF-kappaB transcription factor activity

16573520


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
TCGALDLUSCTCGA-77-A5G3-01AKLF12chr13

74419964

-COMMD6chr13

76111811

-
* 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-shiftENST00000377669ENST00000406936KLF12chr13

74419964

-COMMD6chr13

76111811

-
Frame-shiftENST00000377669ENST00000377615KLF12chr13

74419964

-COMMD6chr13

76111811

-
5CDS-intronENST00000377669ENST00000377619KLF12chr13

74419964

-COMMD6chr13

76111811

-
5CDS-intronENST00000377669ENST00000355801KLF12chr13

74419964

-COMMD6chr13

76111811

-
5CDS-intronENST00000377669ENST00000460675KLF12chr13

74419964

-COMMD6chr13

76111811

-
Frame-shiftENST00000377666ENST00000406936KLF12chr13

74419964

-COMMD6chr13

76111811

-
Frame-shiftENST00000377666ENST00000377615KLF12chr13

74419964

-COMMD6chr13

76111811

-
5CDS-intronENST00000377666ENST00000377619KLF12chr13

74419964

-COMMD6chr13

76111811

-
5CDS-intronENST00000377666ENST00000355801KLF12chr13

74419964

-COMMD6chr13

76111811

-
5CDS-intronENST00000377666ENST00000460675KLF12chr13

74419964

-COMMD6chr13

76111811

-
5UTR-3CDSENST00000472022ENST00000406936KLF12chr13

74419964

-COMMD6chr13

76111811

-
5UTR-3CDSENST00000472022ENST00000377615KLF12chr13

74419964

-COMMD6chr13

76111811

-
5UTR-intronENST00000472022ENST00000377619KLF12chr13

74419964

-COMMD6chr13

76111811

-
5UTR-intronENST00000472022ENST00000355801KLF12chr13

74419964

-COMMD6chr13

76111811

-
5UTR-intronENST00000472022ENST00000460675KLF12chr13

74419964

-COMMD6chr13

76111811

-

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FusionProtFeatures for KLF12_COMMD6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KLF12

Q9Y4X4

COMMD6

Q7Z4G1

Confers strong transcriptional repression to the AP-2-alpha gene. Binds to a regulatory element (A32) in the AP-2-alphagene promoter. May modulate activity of cullin-RING E3 ubiquitin ligase(CRL) complexes (PubMed:21778237). Down-regulates activation ofNF-kappa-B. Inhibits TNF-induced NFKB1 activation.{ECO:0000269|PubMed:15799966, ECO:0000269|PubMed:16573520,ECO:0000305|PubMed:21778237}.

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 KLF12_COMMD6


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 KLF12_COMMD6


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
KLF12EHMT2, APP, CTBP1, THAP1, DYNLT1, DNMT3L, IDO2, TRIM25COMMD6COMMD1, RELA, NFKB1, COMMD6, COMMD4, VCP, CCDC22, COMMD10, ZFP36, CCDC93, E2F6, COMMD3, UNK, COMMD9, SCLT1, COMMD7, FAM45A, COMMD2, COMMD8, C16orf62, COMMD5, DSCR3, VPS29, TFDP1, VPS33B, MFAP3, KIF2B, EMB, TM2D3


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 KLF12_COMMD6


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 KLF12_COMMD6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKLF12C0036341Schizophrenia1CTD_human
HgeneKLF12C0236969Substance-Related Disorders1CTD_human