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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: 926

FusionGeneSummary for ADNP_PCIF1

check button Fusion gene summary
Fusion gene informationFusion gene name: ADNP_PCIF1
Fusion gene ID: 926
HgeneTgene
Gene symbol

ADNP

PCIF1

Gene ID

23394

63935

Gene nameactivity dependent neuroprotector homeoboxPDX1 C-terminal inhibiting factor 1
SynonymsADNP1|HVDAS|MRD28C20orf67|PPP1R121
Cytomap

20q13.13

20q13.12

Type of geneprotein-codingprotein-coding
Descriptionactivity-dependent neuroprotector homeobox proteinADNP homeobox 1activity-dependent neuroprotective proteinactivity-dependent neuroprotectorphosphorylated CTD-interacting factor 1PDX-1 C terminus-interacting factor 1protein phosphatase 1, regulatory subunit 121
Modification date2018052220180519
UniProtAcc

Q9H2P0

Q9H4Z3

Ensembl transtripts involved in fusion geneENST00000396029, ENST00000396032, 
ENST00000371602, ENST00000349014, 
ENST00000372409, ENST00000479348, 
Fusion gene scores* DoF score13 X 4 X 9=4681 X 2 X 1=2
# samples 131
** MAII scorelog2(13/468*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/2*10)=2.32192809488736
Context

PubMed: ADNP [Title/Abstract] AND PCIF1 [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
TgenePCIF1

GO:0010923

negative regulation of phosphatase activity

19389623


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
TCGARVLUSCTCGA-77-7140-01AADNPchr20

49545188

-PCIF1chr20

44571736

+
TCGALDLUSCTCGA-77-7140-01AADNPchr20

49545188

-PCIF1chr20

44569692

+
* 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-3CDSENST00000396029ENST00000372409ADNPchr20

49545188

-PCIF1chr20

44571736

+
5UTR-intronENST00000396029ENST00000479348ADNPchr20

49545188

-PCIF1chr20

44571736

+
intron-3CDSENST00000396032ENST00000372409ADNPchr20

49545188

-PCIF1chr20

44571736

+
intron-intronENST00000396032ENST00000479348ADNPchr20

49545188

-PCIF1chr20

44571736

+
intron-3CDSENST00000371602ENST00000372409ADNPchr20

49545188

-PCIF1chr20

44571736

+
intron-intronENST00000371602ENST00000479348ADNPchr20

49545188

-PCIF1chr20

44571736

+
intron-3CDSENST00000349014ENST00000372409ADNPchr20

49545188

-PCIF1chr20

44571736

+
intron-intronENST00000349014ENST00000479348ADNPchr20

49545188

-PCIF1chr20

44571736

+
5UTR-3CDSENST00000396029ENST00000372409ADNPchr20

49545188

-PCIF1chr20

44569692

+
5UTR-intronENST00000396029ENST00000479348ADNPchr20

49545188

-PCIF1chr20

44569692

+
intron-3CDSENST00000396032ENST00000372409ADNPchr20

49545188

-PCIF1chr20

44569692

+
intron-intronENST00000396032ENST00000479348ADNPchr20

49545188

-PCIF1chr20

44569692

+
intron-3CDSENST00000371602ENST00000372409ADNPchr20

49545188

-PCIF1chr20

44569692

+
intron-intronENST00000371602ENST00000479348ADNPchr20

49545188

-PCIF1chr20

44569692

+
intron-3CDSENST00000349014ENST00000372409ADNPchr20

49545188

-PCIF1chr20

44569692

+
intron-intronENST00000349014ENST00000479348ADNPchr20

49545188

-PCIF1chr20

44569692

+

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FusionProtFeatures for ADNP_PCIF1


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

Q9H2P0

PCIF1

Q9H4Z3

Potential transcription factor. May mediate some of theneuroprotective peptide VIP-associated effects involving normalgrowth and cancer proliferation. May play a role in transcription elongation or incoupling transcription to pre-mRNA processing through itsassociation with the phosphorylated C-terminal domain (CTD) ofRNAPII largest subunit.

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 ADNP_PCIF1


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 ADNP_PCIF1


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
ADNPARID1A, SMARCC2, SMARCA4, MAP1LC3B, CBX1, CBX3, CBX5, SIRT7, SEPT2, PHGDH, EBNA1BP2, NFIA, RRS1, SAP18, EMD, MYC, HDAC1, HDAC11, CDC27, HIST3H3, CCDC8, EED, RNF2, BMI1, ILK, HDAC7, QPRT, PHF7, ZNF524, ZSCAN20, NTRK1, DAXX, KPNA1, DYNLL1, PCDHB15, ZNF644, NFATC1, RBPJ, TEAD2, FOXE1, FOXG1, FOXJ2, FOXK2, FOXQ1, FOXS1, USP37, NFATC2, ZNF581, POLG2, NCAPH2, TRIM25, TXNIP, FBXL13PCIF1POLR2A, APP, PDX1, MNAT1, POLR2I, HNRNPUL1, CAMSAP2, PARP16, FANCM, C19orf43, ZCCHC6


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 ADNP_PCIF1


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 ADNP_PCIF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADNPC0004352Autistic Disorder1CTD_human
HgeneADNPC0015923Fetal Alcohol Syndrome1PSYGENET
HgeneADNPC0036341Schizophrenia1PSYGENET
HgeneADNPC1542327Fetus or newborn affected by alcohol transmitted via placenta or breast milk1PSYGENET