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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: 9898

FusionGeneSummary for DHTKD1_IFT122

check button Fusion gene summary
Fusion gene informationFusion gene name: DHTKD1_IFT122
Fusion gene ID: 9898
HgeneTgene
Gene symbol

DHTKD1

IFT122

Gene ID

55526

55764

Gene namedehydrogenase E1 and transketolase domain containing 1intraflagellar transport 122
SynonymsAMOXAD|CMT2QCED|CED1|SPG|WDR10|WDR10p|WDR140
Cytomap

10p14

3q21.3-q22.1

Type of geneprotein-codingprotein-coding
Descriptionprobable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrialdehydrogenase E1 and transketolase domain-containing protein 1intraflagellar transport protein 122 homologWD repeat domain 10WD repeat-containing protein 10WD repeat-containing protein 140intraflagellar transport 122 homolog
Modification date2018052320180523
UniProtAcc

Q96HY7

Q9HBG6

Ensembl transtripts involved in fusion geneENST00000263035, ENST00000465617, 
ENST00000347300, ENST00000296266, 
ENST00000507564, ENST00000431818, 
ENST00000504021, ENST00000349441, 
ENST00000348417, ENST00000440957, 
ENST00000513932, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 2=32
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DHTKD1 [Title/Abstract] AND IFT122 [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
ChiTaRS3.1BE072743DHTKD1chr10

12120016

+IFT122chr3

129192913

+
* 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-intronENST00000263035ENST00000347300DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000263035ENST00000296266DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000263035ENST00000507564DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000263035ENST00000431818DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000263035ENST00000504021DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000263035ENST00000349441DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000263035ENST00000348417DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000263035ENST00000440957DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000263035ENST00000513932DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000465617ENST00000347300DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000465617ENST00000296266DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000465617ENST00000507564DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000465617ENST00000431818DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000465617ENST00000504021DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000465617ENST00000349441DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000465617ENST00000348417DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000465617ENST00000440957DHTKD1chr10

12120016

+IFT122chr3

129192913

+
intron-intronENST00000465617ENST00000513932DHTKD1chr10

12120016

+IFT122chr3

129192913

+

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FusionProtFeatures for DHTKD1_IFT122


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DHTKD1

Q96HY7

IFT122

Q9HBG6

The 2-oxoglutarate dehydrogenase complex catalyzes theoverall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Itcontains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamidesuccinyltransferase (E2) and lipoamide dehydrogenase (E3) (Bysimilarity). {ECO:0000250}.

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 DHTKD1_IFT122


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 DHTKD1_IFT122


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 DHTKD1_IFT122


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 DHTKD1_IFT122


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDHTKD1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneDHTKD1C18598172-AMINOADIPIC 2-OXOADIPIC ACIDURIA1ORPHANET;UNIPROT
TgeneIFT122C0008780Ciliary Motility Disorders1CTD_human
TgeneIFT122C0010278Craniosynostosis1CTD_human
TgeneIFT122C0013608Edema, Cardiac1CTD_human
TgeneIFT122C0015393Eye Abnormalities1CTD_human
TgeneIFT122C0020255Hydrocephalus1CTD_human
TgeneIFT122C0022658Kidney Diseases1CTD_human
TgeneIFT122C0037932Curvature of spine1CTD_human
TgeneIFT122C0432235Cranioectodermal Dysplasia1CTD_human;ORPHANET;UNIPROT