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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: 7230

FusionGeneSummary for CIC_DLK1

check button Fusion gene summary
Fusion gene informationFusion gene name: CIC_DLK1
Fusion gene ID: 7230
HgeneTgene
Gene symbol

CIC

DLK1

Gene ID

23152

8788

Gene namecapicua transcriptional repressordelta like non-canonical Notch ligand 1
SynonymsMRD45DLK|DLK-1|Delta1|FA1|PREF1|Pref-1|ZOG|pG2
Cytomap

19q13.2

14q32.2

Type of geneprotein-codingprotein-coding
Descriptionprotein capicua homologprotein delta homolog 1delta-like 1 homologfetal antigen 1preadipocyte factor 1secredeltin
Modification date2018052320180523
UniProtAcc

Q96RK0

P80370

Ensembl transtripts involved in fusion geneENST00000572681, ENST00000575839, 
ENST00000160740, ENST00000575354, 
ENST00000341267, ENST00000331224, 
ENST00000556051, 
Fusion gene scores* DoF score9 X 7 X 5=3159 X 9 X 3=243
# samples 97
** MAII scorelog2(9/315*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/243*10)=-1.79552948666081
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CIC [Title/Abstract] AND DLK1 [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
TgeneDLK1

GO:0045746

negative regulation of Notch signaling pathway

25093684


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
TCGARVPCPGTCGA-QR-A70P-01ACICchr19

42798456

+DLK1chr14

101193333

+
* 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-5UTRENST00000572681ENST00000341267CICchr19

42798456

+DLK1chr14

101193333

+
5CDS-5UTRENST00000572681ENST00000331224CICchr19

42798456

+DLK1chr14

101193333

+
5CDS-intronENST00000572681ENST00000556051CICchr19

42798456

+DLK1chr14

101193333

+
intron-5UTRENST00000575839ENST00000341267CICchr19

42798456

+DLK1chr14

101193333

+
intron-5UTRENST00000575839ENST00000331224CICchr19

42798456

+DLK1chr14

101193333

+
intron-intronENST00000575839ENST00000556051CICchr19

42798456

+DLK1chr14

101193333

+
5CDS-5UTRENST00000160740ENST00000341267CICchr19

42798456

+DLK1chr14

101193333

+
5CDS-5UTRENST00000160740ENST00000331224CICchr19

42798456

+DLK1chr14

101193333

+
5CDS-intronENST00000160740ENST00000556051CICchr19

42798456

+DLK1chr14

101193333

+
5CDS-5UTRENST00000575354ENST00000341267CICchr19

42798456

+DLK1chr14

101193333

+
5CDS-5UTRENST00000575354ENST00000331224CICchr19

42798456

+DLK1chr14

101193333

+
5CDS-intronENST00000575354ENST00000556051CICchr19

42798456

+DLK1chr14

101193333

+

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FusionProtFeatures for CIC_DLK1


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

Q96RK0

DLK1

P80370

Transcriptional repressor which plays a role indevelopment of the central nervous system (CNS). In concert withATXN1 and ATXN1L, involved in brain development.{ECO:0000250|UniProtKB:Q924A2}. May have a role in neuroendocrine differentiation.

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 CIC_DLK1


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 CIC_DLK1


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
CICNFYC, CSNK2B, PLK1, GABPB1, GTPBP3, TRIM22, ZNRD1, ATXN1, SETD2, SEC62, CENPJ, PICK1, PYCR2, NTRK1, EWSR1, FOXK2, EYA2, ZBTB18DLK1GAS1, GRN, ZDHHC17, TUBB8, DCAKD, ACVR2B, ZNF696, SMG8, ATP1A3, ATP12A, NCLN, TBC1D15, ATP13A1, TFRC, NUP188, PTRH2, WDR44, POM121, SCAMP1, NFRKB, KIAA1467, CEP78, LEMD2, ZZEF1, ATP2B4, MIS18BP1, C2CD5, PDS5A, LAPTM4B, TMEM214, SCAMP2, KIAA1161, PTGES2, CABLES2, STEAP3, NCAPH2, ANKRD13C, FNDC3A, FAM115C, CABLES1, FGFR1, PCYOX1, PRAF2, INTS7, DNAH14, NLRX1, GOLGA2, UBE3B, ANKRD27, SLC16A2, PSEN2, DIP2A, MAP2K7, MBLAC2, OCLN, ANO6, SLC19A2, EGFL7, ADPGK, CSPG5, FIBP, KIAA0195, SGPP1, DENND6A, OSTC, BRI3BP, ZNF627, ORC4, SLC38A2, EVA1B


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 CIC_DLK1


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 CIC_DLK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCICC0027627Neoplasm Metastasis1CTD_human
HgeneCICC0087012Ataxia, Spinocerebellar1CTD_human
HgeneCICC3714756Intellectual Disability1CTD_human
TgeneDLK1C0015934Fetal Growth Retardation1CTD_human
TgeneDLK1C3463824MYELODYSPLASTIC SYNDROME1CTD_human