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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: 15201

FusionGeneSummary for GPHN_CCDC12

check button Fusion gene summary
Fusion gene informationFusion gene name: GPHN_CCDC12
Fusion gene ID: 15201
HgeneTgene
Gene symbol

GPHN

CCDC12

Gene ID

10243

151903

Gene namegephyrincoiled-coil domain containing 12
SynonymsGEPH|GPH|GPHRYN|HKPX1|MOCODC-
Cytomap

14q23.3-q24.1

3p21.31

Type of geneprotein-codingprotein-coding
Descriptiongephyrincoiled-coil domain-containing protein 12
Modification date2018052320180519
UniProtAcc

Q9NQX3

Q8WUD4

Ensembl transtripts involved in fusion geneENST00000315266, ENST00000478722, 
ENST00000459628, ENST00000543237, 
ENST00000305960, ENST00000544752, 
ENST00000425441, ENST00000292314, 
ENST00000546280, ENST00000605358, 
Fusion gene scores* DoF score8 X 7 X 7=3922 X 2 X 2=8
# samples 82
** MAII scorelog2(8/392*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: GPHN [Title/Abstract] AND CCDC12 [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
HgeneGPHN

GO:0032324

molybdopterin cofactor biosynthetic process

26613940

HgeneGPHN

GO:0097112

gamma-aminobutyric acid receptor clustering

26613940


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
ChiTaRS3.1BX509307GPHNchr14

67102571

+CCDC12chr3

46982802

-
* 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-intronENST00000315266ENST00000425441GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000315266ENST00000292314GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000315266ENST00000546280GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000315266ENST00000605358GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000478722ENST00000425441GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000478722ENST00000292314GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000478722ENST00000546280GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000478722ENST00000605358GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000459628ENST00000425441GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000459628ENST00000292314GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000459628ENST00000546280GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000459628ENST00000605358GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000543237ENST00000425441GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000543237ENST00000292314GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000543237ENST00000546280GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000543237ENST00000605358GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000305960ENST00000425441GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000305960ENST00000292314GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000305960ENST00000546280GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000305960ENST00000605358GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000544752ENST00000425441GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000544752ENST00000292314GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000544752ENST00000546280GPHNchr14

67102571

+CCDC12chr3

46982802

-
intron-intronENST00000544752ENST00000605358GPHNchr14

67102571

+CCDC12chr3

46982802

-

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FusionProtFeatures for GPHN_CCDC12


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

Q9NQX3

CCDC12

Q8WUD4

Microtubule-associated protein involved in membraneprotein-cytoskeleton interactions. It is thought to anchor theinhibitory glycine receptor (GLYR) to subsynaptic microtubules.Catalyzes two steps in the biosynthesis of the molybdenumcofactor. In the first step, molybdopterin is adenylated.Subsequently, molybdate is inserted into adenylated molybdopterinand AMP is released. {ECO:0000269|PubMed:26613940}.

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 GPHN_CCDC12


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 GPHN_CCDC12


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 GPHN_CCDC12


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 GPHN_CCDC12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGPHNC0001973Alcoholic Intoxication, Chronic1CTD_human
HgeneGPHNC0236736Cocaine-Related Disorders1CTD_human
HgeneGPHNC1854990Molybdenum Cofactor Deficiency, Complementation Group C1ORPHANET;UNIPROT