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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: 25075

FusionGeneSummary for NUDCD3_PTCH1

check button Fusion gene summary
Fusion gene informationFusion gene name: NUDCD3_PTCH1
Fusion gene ID: 25075
HgeneTgene
Gene symbol

NUDCD3

PTCH1

Gene ID

23386

5727

Gene nameNudC domain containing 3patched 1
SynonymsNudCLBCNS|NBCCS|PTC|PTC1|PTCH
Cytomap

7p13

9q22.32

Type of geneprotein-codingprotein-coding
DescriptionnudC domain-containing protein 3NudC-like proteinprotein patched homolog 1
Modification date2018052320180523
UniProtAcc

Q8IVD9

Q13635

Ensembl transtripts involved in fusion geneENST00000355451, ENST00000460110, 
ENST00000331920, ENST00000418258, 
ENST00000421141, ENST00000437951, 
ENST00000430669, ENST00000429896, 
ENST00000375274, ENST00000548379, 
ENST00000468211, 
Fusion gene scores* DoF score6 X 6 X 2=722 X 2 X 1=4
# samples 62
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: NUDCD3 [Title/Abstract] AND PTCH1 [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
TgenePTCH1

GO:0010875

positive regulation of cholesterol efflux

21931618

TgenePTCH1

GO:0072659

protein localization to plasma membrane

11278759


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
ChiTaRS3.1BF091762NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
* 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-3CDSENST00000355451ENST00000331920NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000355451ENST00000418258NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000355451ENST00000421141NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000355451ENST00000437951NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000355451ENST00000430669NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000355451ENST00000429896NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000355451ENST00000375274NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-intronENST00000355451ENST00000548379NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-intronENST00000355451ENST00000468211NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000460110ENST00000331920NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000460110ENST00000418258NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000460110ENST00000421141NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000460110ENST00000437951NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000460110ENST00000430669NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000460110ENST00000429896NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-3CDSENST00000460110ENST00000375274NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-intronENST00000460110ENST00000548379NUDCD3chr7

44530238

+PTCH1chr9

98239953

+
intron-intronENST00000460110ENST00000468211NUDCD3chr7

44530238

+PTCH1chr9

98239953

+

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FusionProtFeatures for NUDCD3_PTCH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NUDCD3

Q8IVD9

PTCH1

Q13635


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 NUDCD3_PTCH1


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 NUDCD3_PTCH1


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 NUDCD3_PTCH1


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 NUDCD3_PTCH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNUDCD3C0023903Liver neoplasms1CTD_human
TgenePTCH1C0004779Basal Cell Nevus Syndrome13CTD_human;ORPHANET;UNIPROT
TgenePTCH1C0007117Basal cell carcinoma3CTD_human;HPO
TgenePTCH1C0025149Medulloblastoma3CTD_human;HPO
TgenePTCH1C1835820HOLOPROSENCEPHALY 73CTD_human;UNIPROT
TgenePTCH1C0376634Craniofacial Abnormalities2CTD_human
TgenePTCH1C0006118Brain Neoplasms1CTD_human
TgenePTCH1C0008924Cleft Lip1CTD_human;HPO
TgenePTCH1C0008925Cleft Palate1CTD_human;HPO
TgenePTCH1C0019693HIV Infections1CTD_human
TgenePTCH1C0030297Pancreatic Neoplasm1CTD_human
TgenePTCH1C0035412Rhabdomyosarcoma1CTD_human
TgenePTCH1C0037286Skin Neoplasms1CTD_human
TgenePTCH1C0206663Neuroectodermal Tumor, Primitive1CTD_human