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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: 5153

FusionGeneSummary for CABIN1_POLR2F

check button Fusion gene summary
Fusion gene informationFusion gene name: CABIN1_POLR2F
Fusion gene ID: 5153
HgeneTgene
Gene symbol

CABIN1

POLR2F

Gene ID

23523

5435

Gene namecalcineurin binding protein 1RNA polymerase II subunit F
SynonymsCAIN|KB-318B8.7|PPP3INHRBP14.4|POLRF|RPABC14.4|RPABC2|RPB14.4|RPB6|RPC15
Cytomap

22q11.23

22q13.1

Type of geneprotein-codingprotein-coding
Descriptioncalcineurin-binding protein cabin-1calcineurin binding protein cabin 1calcineurin inhibitorDNA-directed RNA polymerases I, II, and III subunit RPABC2DNA-directed RNA polymerase II subunit FDNA-directed RNA polymerases I, II, and III 14.4 kDa polypeptideRNA Polymerase II subunit 14.4 kDRNA polymerases I, II, and III subunit ABC2polymerase (
Modification date2018052320180523
UniProtAcc

Q9Y6J0

P61218

Ensembl transtripts involved in fusion geneENST00000263119, ENST00000405822, 
ENST00000398319, ENST00000337989, 
ENST00000485008, 		ENST00000407936, 
ENST00000405557, ENST00000442738, 
ENST00000460648, ENST00000488684, 
ENST00000606538, ENST00000470701, 
ENST00000608713, 
Fusion gene scores* DoF score8 X 7 X 5=2802 X 2 X 2=8
# samples 82
** MAII scorelog2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: CABIN1 [Title/Abstract] AND POLR2F [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
HgeneCABIN1

GO:0006336

DNA replication-independent nucleosome assembly

14718166

TgenePOLR2F

GO:0006366

transcription by RNA polymerase II

9852112


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
TCGARVSKCMTCGA-GN-A8LN-01ACABIN1chr22

24530382

+POLR2Fchr22

38352780

+
* 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-shiftENST00000263119ENST00000407936CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000263119ENST00000405557CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000263119ENST00000442738CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000263119ENST00000460648CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000263119ENST00000488684CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000263119ENST00000606538CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000263119ENST00000470701CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
5CDS-intronENST00000263119ENST00000608713CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000405822ENST00000407936CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000405822ENST00000405557CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000405822ENST00000442738CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000405822ENST00000460648CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000405822ENST00000488684CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000405822ENST00000606538CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000405822ENST00000470701CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
5CDS-intronENST00000405822ENST00000608713CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000398319ENST00000407936CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000398319ENST00000405557CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000398319ENST00000442738CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000398319ENST00000460648CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000398319ENST00000488684CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000398319ENST00000606538CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
Frame-shiftENST00000398319ENST00000470701CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
5CDS-intronENST00000398319ENST00000608713CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000337989ENST00000407936CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000337989ENST00000405557CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000337989ENST00000442738CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000337989ENST00000460648CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000337989ENST00000488684CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000337989ENST00000606538CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000337989ENST00000470701CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-intronENST00000337989ENST00000608713CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000485008ENST00000407936CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000485008ENST00000405557CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000485008ENST00000442738CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000485008ENST00000460648CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000485008ENST00000488684CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000485008ENST00000606538CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-3CDSENST00000485008ENST00000470701CABIN1chr22

24530382

+POLR2Fchr22

38352780

+
intron-intronENST00000485008ENST00000608713CABIN1chr22

24530382

+POLR2Fchr22

38352780

+

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FusionProtFeatures for CABIN1_POLR2F


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CABIN1

Q9Y6J0

POLR2F

P61218

May be required for replication-independent chromatinassembly. May serve as a negative regulator of T-cell receptor(TCR) signaling via inhibition of calcineurin. Inhibition ofactivated calcineurin is dependent on both PKC and calciumsignals. Acts as a negative regulator of p53/TP53 by keeping p53in an inactive state on chromatin at promoters of a subset of it'starget genes. {ECO:0000269|PubMed:14718166,ECO:0000269|PubMed:9655484}. DNA-dependent RNA polymerases catalyze the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Common component of RNA polymerases I, II, and IIIwhich synthesize ribosomal RNA precursors, mRNA precursors andmany functional non-coding RNAs, and small RNAs, such as 5S rRNAand tRNAs, respectively. Pol II is the central component of thebasal RNA polymerase II transcription machinery. Pols are composedof mobile elements that move relative to each other. In Pol II,POLR2F/RPB6 is part of the clamp element and together with partsof RPB1 and RPB2 forms a pocket to which the RPB4-RPB7 subcomplexbinds (By similarity). {ECO:0000250, ECO:0000269|PubMed:9852112}.

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 CABIN1_POLR2F


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 CABIN1_POLR2F


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
CABIN1MEF2BNB-MEF2B, HDAC1, HDAC2, SIN3A, MEF2D, DNM1, AMPH, AP1B1, PPP3CA, SUV39H1, HIRA, CAMK4, YWHAQ, H3F3A, UBN1, POLR2A, TFAP4, HECW2, MEF2B, EAF1, HIST1H3A, ASF1A, MEF2A, NFATC2, ASF1B, CDX1, XAGE1B, TLK2POLR2FMED10, MED9, MED29, MED19, MED26, POLR2C, POLR2A, POLR2E, POLR2G, POLR2K, POLR3D, MED1, MED30, APP, ESR1, SRC, PSMB9, TCEB3, GPN3, PIH1D1, RPRD1B, POLR2M, CRCP, POLR1A, POLR1C, POLR2B, POLR2H, POLR2I, POLR3F, POLR3K, SUPT4H1, SUPT5H, GTF2B, GTF2F1, GTF2F2, GTF3C1, IL15RA, MAP3K4, POLR2J, SDC2, CTDP1, RECQL5, BAG5, KEAP1, POLR3G, POLR3C, CD3EAP, TRIOBP, POLR3A, GPN1, MAST3, SETX, PLEKHM2, DCAF4, ZNRD1, POLR1D, MED15, DYNC2LI1, POLR3B, POLR3E, BDP1, KDM3A, POLR1E, RPAP2, MED25, POLR1B, POLR3GL, DNTTIP1, GCOM1, POLR3H, LMO2


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 CABIN1_POLR2F


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 CABIN1_POLR2F


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCABIN1C0018800Cardiomegaly1CTD_human
HgeneCABIN1C0036341Schizophrenia1PSYGENET