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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: 18064

FusionGeneSummary for JMJD1C_ANKH

check button Fusion gene summary
Fusion gene informationFusion gene name: JMJD1C_ANKH
Fusion gene ID: 18064
HgeneTgene
Gene symbol

JMJD1C

ANKH

Gene ID

221037

56172

Gene namejumonji domain containing 1CANKH inorganic pyrophosphate transport regulator
SynonymsKDM3C|TRIP-8|TRIP8ANK|CCAL2|CMDJ|CPPDD|HANK|MANK|SLC62A1
Cytomap

10q21.3

5p15.2

Type of geneprotein-codingprotein-coding
Descriptionprobable JmjC domain-containing histone demethylation protein 2CTR-interacting protein 8thyroid hormone receptor interactor 8thyroid receptor-interacting protein 8progressive ankylosis protein homologankylosis, progressive homolog
Modification date2018052320180519
UniProtAcc

Q15652

Q9HCJ1

Ensembl transtripts involved in fusion geneENST00000399262, ENST00000402544, 
ENST00000399251, ENST00000542921, 
ENST00000489372, 
ENST00000284268, 
ENST00000535119, ENST00000503939, 
Fusion gene scores* DoF score13 X 8 X 6=6249 X 7 X 5=315
# samples 139
** MAII scorelog2(13/624*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/315*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: JMJD1C [Title/Abstract] AND ANKH [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

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
ChiTaRS3.1DA252327JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
* 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
5CDS-intronENST00000399262ENST00000284268JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
5CDS-intronENST00000399262ENST00000535119JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
5CDS-intronENST00000399262ENST00000503939JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
intron-intronENST00000402544ENST00000284268JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
intron-intronENST00000402544ENST00000535119JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
intron-intronENST00000402544ENST00000503939JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
5UTR-intronENST00000399251ENST00000284268JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
5UTR-intronENST00000399251ENST00000535119JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
5UTR-intronENST00000399251ENST00000503939JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
5UTR-intronENST00000542921ENST00000284268JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
5UTR-intronENST00000542921ENST00000535119JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
5UTR-intronENST00000542921ENST00000503939JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
5UTR-intronENST00000489372ENST00000284268JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
5UTR-intronENST00000489372ENST00000535119JMJD1Cchr10

65024411

-ANKHchr5

14758727

-
5UTR-intronENST00000489372ENST00000503939JMJD1Cchr10

65024411

-ANKHchr5

14758727

-

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FusionProtFeatures for JMJD1C_ANKH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
JMJD1C

Q15652

ANKH

Q9HCJ1

Regulates intra- and extracellular levels of inorganicpyrophosphate (PPi), probably functioning as PPi transporter.

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 JMJD1C_ANKH


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 JMJD1C_ANKH


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 JMJD1C_ANKH


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 JMJD1C_ANKH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneJMJD1CC0004352Autistic Disorder1CTD_human
HgeneJMJD1CC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneJMJD1CC3495559Juvenile arthritis1CTD_human
TgeneANKHC0856830Calcium pyrophosphate arthropathy3CTD_human;ORPHANET;UNIPROT
TgeneANKHC0014175Endometriosis1CTD_human
TgeneANKHC0040427Tooth Abnormalities1CTD_human
TgeneANKHC0376634Craniofacial Abnormalities1CTD_human
TgeneANKHC1852502CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT1CTD_human;UNIPROT