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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: 15397

FusionGeneSummary for GRHL2_NCALD

check button Fusion gene summary
Fusion gene informationFusion gene name: GRHL2_NCALD
Fusion gene ID: 15397
HgeneTgene
Gene symbol

GRHL2

NCALD

Gene ID

79977

83988

Gene namegrainyhead like transcription factor 2neurocalcin delta
SynonymsBOM|DFNA28|ECTDS|TFCP2L3-
Cytomap

8q22.3

8q22.3

Type of geneprotein-codingprotein-coding
Descriptiongrainyhead-like protein 2 homologbrother of mammalian grainyheadgrainyhead-like 2transcription factor CP2-like 3neurocalcin-delta
Modification date2018052320180519
UniProtAcc

Q6ISB3

P61601

Ensembl transtripts involved in fusion geneENST00000251808, ENST00000395927, 
ENST00000517674, 
ENST00000311028, 
ENST00000395923, ENST00000220931, 
ENST00000521599, ENST00000522951, 
ENST00000519508, ENST00000521371, 
Fusion gene scores* DoF score23 X 10 X 9=207015 X 8 X 9=1080
# samples 2019
** MAII scorelog2(20/2070*10)=-3.37155886261196
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/1080*10)=-2.50695998871988
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GRHL2 [Title/Abstract] AND NCALD [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
HgeneGRHL2

GO:0008544

epidermis development

23254293

HgeneGRHL2

GO:0044030

regulation of DNA methylation

23254293

HgeneGRHL2

GO:0045617

negative regulation of keratinocyte differentiation

23254293

HgeneGRHL2

GO:0045944

positive regulation of transcription by RNA polymerase II

23814079


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
TCGARVPRADTCGA-YL-A8SP-01BGRHL2chr8

102631925

+NCALDchr8

102928086

-
TCGARVUCECTCGA-E6-A8L9-01AGRHL2chr8

102611379

+NCALDchr8

102731876

-
* 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-5UTRENST00000251808ENST00000311028GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-5UTRENST00000251808ENST00000395923GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-intronENST00000251808ENST00000220931GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-5UTRENST00000251808ENST00000521599GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-intronENST00000251808ENST00000522951GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-intronENST00000251808ENST00000519508GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-intronENST00000251808ENST00000521371GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-5UTRENST00000395927ENST00000311028GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-5UTRENST00000395927ENST00000395923GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-intronENST00000395927ENST00000220931GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-5UTRENST00000395927ENST00000521599GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-intronENST00000395927ENST00000522951GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-intronENST00000395927ENST00000519508GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-intronENST00000395927ENST00000521371GRHL2chr8

102631925

+NCALDchr8

102928086

-
intron-5UTRENST00000517674ENST00000311028GRHL2chr8

102631925

+NCALDchr8

102928086

-
intron-5UTRENST00000517674ENST00000395923GRHL2chr8

102631925

+NCALDchr8

102928086

-
intron-intronENST00000517674ENST00000220931GRHL2chr8

102631925

+NCALDchr8

102928086

-
intron-5UTRENST00000517674ENST00000521599GRHL2chr8

102631925

+NCALDchr8

102928086

-
intron-intronENST00000517674ENST00000522951GRHL2chr8

102631925

+NCALDchr8

102928086

-
intron-intronENST00000517674ENST00000519508GRHL2chr8

102631925

+NCALDchr8

102928086

-
intron-intronENST00000517674ENST00000521371GRHL2chr8

102631925

+NCALDchr8

102928086

-
5CDS-5UTRENST00000251808ENST00000311028GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-5UTRENST00000251808ENST00000395923GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-5UTRENST00000251808ENST00000220931GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-5UTRENST00000251808ENST00000521599GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-5UTRENST00000251808ENST00000522951GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-5UTRENST00000251808ENST00000519508GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-intronENST00000251808ENST00000521371GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-5UTRENST00000395927ENST00000311028GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-5UTRENST00000395927ENST00000395923GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-5UTRENST00000395927ENST00000220931GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-5UTRENST00000395927ENST00000521599GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-5UTRENST00000395927ENST00000522951GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-5UTRENST00000395927ENST00000519508GRHL2chr8

102611379

+NCALDchr8

102731876

-
5CDS-intronENST00000395927ENST00000521371GRHL2chr8

102611379

+NCALDchr8

102731876

-
intron-5UTRENST00000517674ENST00000311028GRHL2chr8

102611379

+NCALDchr8

102731876

-
intron-5UTRENST00000517674ENST00000395923GRHL2chr8

102611379

+NCALDchr8

102731876

-
intron-5UTRENST00000517674ENST00000220931GRHL2chr8

102611379

+NCALDchr8

102731876

-
intron-5UTRENST00000517674ENST00000521599GRHL2chr8

102611379

+NCALDchr8

102731876

-
intron-5UTRENST00000517674ENST00000522951GRHL2chr8

102611379

+NCALDchr8

102731876

-
intron-5UTRENST00000517674ENST00000519508GRHL2chr8

102611379

+NCALDchr8

102731876

-
intron-intronENST00000517674ENST00000521371GRHL2chr8

102611379

+NCALDchr8

102731876

-

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FusionProtFeatures for GRHL2_NCALD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GRHL2

Q6ISB3

NCALD

P61601

Transcription factor playing an important role inprimary neurulation and in epithelial development(PubMed:29309642, PubMed:25152456). Binds directly to theconsensus DNA sequence 5'-AACCGGTT-3' acting as an activator andrepressor on distinct target genes (By similarity). Duringembryogenesis, plays unique and cooperative roles with GRHL3 inestablishing distinct zones of primary neurulation. Essential forclosure 3 (rostral end of the forebrain), functions cooperativelywith GRHL3 in closure 2 (forebrain/midbrain boundary) andposterior neuropore closure (By similarity). Regulates epithelialmorphogenesis acting as a target gene-associated transcriptionalactivator of apical junctional complex components. Up-regulates ofCLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4protein and its localization at tight junctions (By similarity).Comprises an essential component of the transcriptional machinerythat establishes appropriate expression levels of CLDN4 and CDH1in different types of epithelia. Exhibits functional redundancywith GRHL3 in epidermal morphogenetic events and epidermal woundrepair (By similarity). In lung, forms a regulatory loop withNKX2-1 that coordinates lung epithelial cell morphogenesis anddifferentiation (By similarity). In keratinocytes, plays a role intelomerase activation during cellular proliferation, regulatesTERT expression by binding to TERT promoter region and inhibitingDNA methylation at the 5'-CpG island, possibly by interfering withDNMT1 enzyme activity (PubMed:19015635, PubMed:20938050). Inaddition, impairs keratinocyte differentiation and epidermalfunction by inhibiting the expression of genes clustered at theepidermal differentiation complex (EDC) as well as GRHL1 and GRHL3through epigenetic mechanisms (PubMed:23254293).{ECO:0000250|UniProtKB:Q8K5C0, ECO:0000269|PubMed:19015635,ECO:0000269|PubMed:20938050, ECO:0000269|PubMed:20978075,ECO:0000269|PubMed:23254293, ECO:0000269|PubMed:25152456,ECO:0000269|PubMed:29309642, ECO:0000305|PubMed:12175488}. May be involved in the calcium-dependent regulation ofrhodopsin phosphorylation. Binds three calcium ions.

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 GRHL2_NCALD


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 GRHL2_NCALD


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
GRHL2GRHL3, APP, LMO4, GRHL1, FOXA1NCALDDTX2, ACTB, METTL21A, MEOX2, C1QTNF2, ARMC1, HAX1, NUFIP1, DGUOK, DNAAF2, TMEM14B, NDUFB5, VTCN1, HSPBAP1


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 GRHL2_NCALD


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 GRHL2_NCALD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGRHL2C4014987ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME1ORPHANET;UNIPROT