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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: 16026

FusionGeneSummary for HEBP1_NCK1

check button Fusion gene summary
Fusion gene informationFusion gene name: HEBP1_NCK1
Fusion gene ID: 16026
HgeneTgene
Gene symbol

HEBP1

NCK1

Gene ID

50865

4690

Gene nameheme binding protein 1NCK adaptor protein 1
SynonymsHBP|HEBPNCK|NCKalpha|nck-1
Cytomap

12p13.1

3q22.3

Type of geneprotein-codingprotein-coding
Descriptionheme-binding protein 1p22HBPcytoplasmic protein NCK1NCK tyrosine kinaseSH2/SH3 adaptor protein NCK-alphamelanoma NCK proteinnon-catalytic region of tyrosine kinase
Modification date2018052320180522
UniProtAcc

Q9NRV9

P16333

Ensembl transtripts involved in fusion geneENST00000014930, ENST00000540916, 
ENST00000536942, 
ENST00000288986, 
ENST00000481752, ENST00000469404, 
Fusion gene scores* DoF score3 X 2 X 2=126 X 3 X 5=90
# samples 36
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HEBP1 [Title/Abstract] AND NCK1 [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
TgeneNCK1

GO:0033137

negative regulation of peptidyl-serine phosphorylation

14676213|16835242

TgeneNCK1

GO:0036493

positive regulation of translation in response to endoplasmic reticulum stress

14676213

TgeneNCK1

GO:0045944

positive regulation of transcription by RNA polymerase II

10026169

TgeneNCK1

GO:0060548

negative regulation of cell death

18835251

TgeneNCK1

GO:0070262

peptidyl-serine dephosphorylation

16835242

TgeneNCK1

GO:1902237

positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

14676213

TgeneNCK1

GO:1903676

positive regulation of cap-dependent translational initiation

11959995

TgeneNCK1

GO:1903679

positive regulation of cap-independent translational initiation

11959995

TgeneNCK1

GO:1903898

negative regulation of PERK-mediated unfolded protein response

14676213

TgeneNCK1

GO:1903912

negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation

14676213|16835242

TgeneNCK1

GO:1990441

negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress

16835242


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
TCGARVHNSCTCGA-QK-A8ZB-01AHEBP1chr12

13140086

-NCK1chr3

136667101

+
* 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
In-frameENST00000014930ENST00000288986HEBP1chr12

13140086

-NCK1chr3

136667101

+
In-frameENST00000014930ENST00000481752HEBP1chr12

13140086

-NCK1chr3

136667101

+
Frame-shiftENST00000014930ENST00000469404HEBP1chr12

13140086

-NCK1chr3

136667101

+
intron-3CDSENST00000540916ENST00000288986HEBP1chr12

13140086

-NCK1chr3

136667101

+
intron-3CDSENST00000540916ENST00000481752HEBP1chr12

13140086

-NCK1chr3

136667101

+
intron-3CDSENST00000540916ENST00000469404HEBP1chr12

13140086

-NCK1chr3

136667101

+
intron-3CDSENST00000536942ENST00000288986HEBP1chr12

13140086

-NCK1chr3

136667101

+
intron-3CDSENST00000536942ENST00000481752HEBP1chr12

13140086

-NCK1chr3

136667101

+
intron-3CDSENST00000536942ENST00000469404HEBP1chr12

13140086

-NCK1chr3

136667101

+

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FusionProtFeatures for HEBP1_NCK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HEBP1

Q9NRV9

NCK1

P16333

May bind free porphyrinogens that may be present in thecell and thus facilitate removal of these potentially toxiccompound. Binds with a high affinity to one molecule of heme orporphyrins. It binds metalloporphyrins, free porphyrins and N-methylprotoporphyrin with similar affinities.{ECO:0000269|PubMed:12413491}. Adapter protein which associates with tyrosine-phosphorylated growth factor receptors, such as KDR and PDGFRB, ortheir cellular substrates. Maintains low levels of EIF2S1phosphorylation by promoting its dephosphorylation by PP1. Plays arole in the DNA damage response, not in the detection of thedamage by ATM/ATR, but for efficient activation of downstreameffectors, such as that of CHEK2. Plays a role in ELK1-dependenttranscriptional activation in response to activated Ras signaling.Modulates the activation of EIF2AK2/PKR by dsRNA. May play a rolein cell adhesion and migration through interaction with ephrinreceptors. {ECO:0000269|PubMed:10026169,ECO:0000269|PubMed:16835242, ECO:0000269|PubMed:17803907,ECO:0000269|PubMed:18835251, ECO:0000269|PubMed:23358419,ECO:0000269|PubMed:9430661}.

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
TgeneNCK1chr12:13140086chr3:136667101ENST00000469404+13282_376249314DomainSH2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneNCK1chr12:13140086chr3:136667101ENST00000288986+24106_165313378DomainSH3 2
TgeneNCK1chr12:13140086chr3:136667101ENST00000288986+24190_252313378DomainSH3 3
TgeneNCK1chr12:13140086chr3:136667101ENST00000288986+24282_376313378DomainSH2
TgeneNCK1chr12:13140086chr3:136667101ENST00000288986+242_61313378DomainSH3 1
TgeneNCK1chr12:13140086chr3:136667101ENST00000469404+13106_165249314DomainSH3 2
TgeneNCK1chr12:13140086chr3:136667101ENST00000469404+13190_252249314DomainSH3 3
TgeneNCK1chr12:13140086chr3:136667101ENST00000469404+132_61249314DomainSH3 1
TgeneNCK1chr12:13140086chr3:136667101ENST00000481752+24106_165313378DomainSH3 2
TgeneNCK1chr12:13140086chr3:136667101ENST00000481752+24190_252313378DomainSH3 3
TgeneNCK1chr12:13140086chr3:136667101ENST00000481752+24282_376313378DomainSH2
TgeneNCK1chr12:13140086chr3:136667101ENST00000481752+242_61313378DomainSH3 1


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FusionGeneSequence for HEBP1_NCK1


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.
>In-frame_HEBP1_ENST00000014930_chr12_13140086_-_NCK1_ENST00000288986_chr3_136667101_+_197aa
MLGMIKNSLFGSVETWPWQVLSKGDKEEVAYEERACEGGKFATVEVTDKPVDEALREAMPKVAKYAGGTNDKGIGMGMTVPISFAVFPNE
DGSLQKKLKVWFRIPNQFQSDPPAPSDKSVKIEEREGITVYSIQMISQYHXKHKGKTSILKSNXKRLSTALGSVNSAPWKNLXNITKRHQ

>In-frame_HEBP1_ENST00000014930_chr12_13140086_-_NCK1_ENST00000481752_chr3_136667101_+_197aa
MLGMIKNSLFGSVETWPWQVLSKGDKEEVAYEERACEGGKFATVEVTDKPVDEALREAMPKVAKYAGGTNDKGIGMGMTVPISFAVFPNE
DGSLQKKLKVWFRIPNQFQSDPPAPSDKSVKIEEREGITVYSIQMISQYHXKHKGKTSILKSNXKRLSTALGSVNSAPWKNLXNITKRHQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_HEBP1_ENST00000014930_chr12_13140086_-_NCK1_ENST00000288986_chr3_136667101_+_593nt
ATGTTGGGCATGATCAAGAACTCGCTGTTCGGAAGCGTAGAGACGTGGCCTTGGCAGGTCCTAAGCAAAGGGGACAAGGAAGAAGTTGCC
TATGAAGAAAGGGCCTGTGAAGGCGGCAAATTTGCCACAGTAGAAGTGACAGATAAGCCTGTGGATGAGGCTCTACGGGAAGCAATGCCC
AAGGTCGCAAAGTATGCGGGGGGCACCAATGACAAGGGAATTGGGATGGGGATGACAGTCCCTATTTCCTTTGCTGTGTTCCCCAATGAA
GATGGCTCTCTGCAGAAGAAATTAAAAGTCTGGTTCCGGATTCCAAACCAATTTCAAAGCGACCCACCAGCTCCCAGTGACAAAAGCGTT
AAGATTGAGGAACGGGAAGGCATCACTGTCTATTCCATCCAAATGATTTCTCAGTATCACTAAAAGCACAAGGGAAAAACAAGCATTTTA
AAGTCCAACTAAAAGAGACTGTCTACTGCATTGGGCAGCGTAAATTCAGCACCATGGAAGAACTTGTAGAACATTACAAAAAGGCACCAA

>In-frame_HEBP1_ENST00000014930_chr12_13140086_-_NCK1_ENST00000481752_chr3_136667101_+_593nt
ATGTTGGGCATGATCAAGAACTCGCTGTTCGGAAGCGTAGAGACGTGGCCTTGGCAGGTCCTAAGCAAAGGGGACAAGGAAGAAGTTGCC
TATGAAGAAAGGGCCTGTGAAGGCGGCAAATTTGCCACAGTAGAAGTGACAGATAAGCCTGTGGATGAGGCTCTACGGGAAGCAATGCCC
AAGGTCGCAAAGTATGCGGGGGGCACCAATGACAAGGGAATTGGGATGGGGATGACAGTCCCTATTTCCTTTGCTGTGTTCCCCAATGAA
GATGGCTCTCTGCAGAAGAAATTAAAAGTCTGGTTCCGGATTCCAAACCAATTTCAAAGCGACCCACCAGCTCCCAGTGACAAAAGCGTT
AAGATTGAGGAACGGGAAGGCATCACTGTCTATTCCATCCAAATGATTTCTCAGTATCACTAAAAGCACAAGGGAAAAACAAGCATTTTA
AAGTCCAACTAAAAGAGACTGTCTACTGCATTGGGCAGCGTAAATTCAGCACCATGGAAGAACTTGTAGAACATTACAAAAAGGCACCAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_HEBP1_ENST00000014930_chr12_13140086_-_NCK1_ENST00000288986_chr3_136667101_+_1425nt
CTCGCCGCCTCGCCGTCCCGCCGCCTTGCCGCCCTGCCACCCTGCCGCCCTGCCGCCCTGCCGCCCTGCCGCCCTGCCGCCGGTGGTCGC
TGCCCGTGGTGCTCCGTCGCCCCCGCCACCTCACGTCCTCCCGTGCGTCGGGAGCGTCTCGGCTACAACATGTTGGGCATGATCAAGAAC
TCGCTGTTCGGAAGCGTAGAGACGTGGCCTTGGCAGGTCCTAAGCAAAGGGGACAAGGAAGAAGTTGCCTATGAAGAAAGGGCCTGTGAA
GGCGGCAAATTTGCCACAGTAGAAGTGACAGATAAGCCTGTGGATGAGGCTCTACGGGAAGCAATGCCCAAGGTCGCAAAGTATGCGGGG
GGCACCAATGACAAGGGAATTGGGATGGGGATGACAGTCCCTATTTCCTTTGCTGTGTTCCCCAATGAAGATGGCTCTCTGCAGAAGAAA
TTAAAAGTCTGGTTCCGGATTCCAAACCAATTTCAAAGCGACCCACCAGCTCCCAGTGACAAAAGCGTTAAGATTGAGGAACGGGAAGGC
ATCACTGTCTATTCCATCCAAATGATTTCTCAGTATCACTAAAAGCACAAGGGAAAAACAAGCATTTTAAAGTCCAACTAAAAGAGACTG
TCTACTGCATTGGGCAGCGTAAATTCAGCACCATGGAAGAACTTGTAGAACATTACAAAAAGGCACCAATTTTTACAAGTGAACAAGGAG
AAAAATTATATCTTGTCAAGCATTTATCATGATACTGCTGACCAGAAGTGACTGCTGTGTAGCTGTAATTTGTCATGTAATTGAAGACTG
AGAAAATGTTGGGTCCAGTCGTGCTTGATTGGAAATTGTTGTTTCTAAATCTATATGAGAATTGACAATAAGTATTTTTATTATAACTCA
GCCCATACATATATACTATGTATGCAGTGCATCTGCATAGAACAGTTCCTTATCCTTGGCCTTCTGTTTTATTGTTTTTTTCTTTGCTGT
TTTCCCTTTGCTTCTAATATTACAGTTTTGTATTTTGTAAACAAAAATCAAATAATGCATATCAGAATCTTTATATGGAAGAAATCCTTT
ATTGCCTTTCCTTTGTTTCCTTGTAAAGGCACCCTGTTCTGTTATGGTTTTTCATTATATAAAATTATTATATCTATATATGACATATGC
TAAAATTTCTTGGAGAGTGTTAATCTTTTCTGTGACTAAATAGCAATAATAAGTGGAAAATTAGAAATTATTTCCAGGTATTATATTTGT
CACAGGCCATTGTAAATACCAAGTATATTGTGTCTGCCATAATTTTTAAAAATACATTCATTGTCTTCAGTCATACAGCAAGACACATGA

>In-frame_HEBP1_ENST00000014930_chr12_13140086_-_NCK1_ENST00000481752_chr3_136667101_+_1425nt
CTCGCCGCCTCGCCGTCCCGCCGCCTTGCCGCCCTGCCACCCTGCCGCCCTGCCGCCCTGCCGCCCTGCCGCCCTGCCGCCGGTGGTCGC
TGCCCGTGGTGCTCCGTCGCCCCCGCCACCTCACGTCCTCCCGTGCGTCGGGAGCGTCTCGGCTACAACATGTTGGGCATGATCAAGAAC
TCGCTGTTCGGAAGCGTAGAGACGTGGCCTTGGCAGGTCCTAAGCAAAGGGGACAAGGAAGAAGTTGCCTATGAAGAAAGGGCCTGTGAA
GGCGGCAAATTTGCCACAGTAGAAGTGACAGATAAGCCTGTGGATGAGGCTCTACGGGAAGCAATGCCCAAGGTCGCAAAGTATGCGGGG
GGCACCAATGACAAGGGAATTGGGATGGGGATGACAGTCCCTATTTCCTTTGCTGTGTTCCCCAATGAAGATGGCTCTCTGCAGAAGAAA
TTAAAAGTCTGGTTCCGGATTCCAAACCAATTTCAAAGCGACCCACCAGCTCCCAGTGACAAAAGCGTTAAGATTGAGGAACGGGAAGGC
ATCACTGTCTATTCCATCCAAATGATTTCTCAGTATCACTAAAAGCACAAGGGAAAAACAAGCATTTTAAAGTCCAACTAAAAGAGACTG
TCTACTGCATTGGGCAGCGTAAATTCAGCACCATGGAAGAACTTGTAGAACATTACAAAAAGGCACCAATTTTTACAAGTGAACAAGGAG
AAAAATTATATCTTGTCAAGCATTTATCATGATACTGCTGACCAGAAGTGACTGCTGTGTAGCTGTAATTTGTCATGTAATTGAAGACTG
AGAAAATGTTGGGTCCAGTCGTGCTTGATTGGAAATTGTTGTTTCTAAATCTATATGAGAATTGACAATAAGTATTTTTATTATAACTCA
GCCCATACATATATACTATGTATGCAGTGCATCTGCATAGAACAGTTCCTTATCCTTGGCCTTCTGTTTTATTGTTTTTTTCTTTGCTGT
TTTCCCTTTGCTTCTAATATTACAGTTTTGTATTTTGTAAACAAAAATCAAATAATGCATATCAGAATCTTTATATGGAAGAAATCCTTT
ATTGCCTTTCCTTTGTTTCCTTGTAAAGGCACCCTGTTCTGTTATGGTTTTTCATTATATAAAATTATTATATCTATATATGACATATGC
TAAAATTTCTTGGAGAGTGTTAATCTTTTCTGTGACTAAATAGCAATAATAAGTGGAAAATTAGAAATTATTTCCAGGTATTATATTTGT
CACAGGCCATTGTAAATACCAAGTATATTGTGTCTGCCATAATTTTTAAAAATACATTCATTGTCTTCAGTCATACAGCAAGACACATGA


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FusionGenePPI for HEBP1_NCK1


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
HEBP1DHX36, COTL1, PCBP1, S100A6, SNX3, UBE2L3, C15orf48, COQ9NCK1EPHB1, MINK1, ERBB4, LCP2, ARHGAP32, BLNK, SOS1, DNM1, SOCS1, RASA1, PKN2, WASL, RRAS, EGFR, KHDRBS1, MAP4K4, DAG1, PXN, MAP4K1, NEDD9, PTK2, DCC, WAS, PDGFRB, TBK1, PAK1, CBL, RALGPS1, SOCS7, FASLG, DRD4, CD3E, ABL1, GAB2, BCAR1, ABI1, WIPF1, PFN1, DOK2, CAV2, NCKIPSD, UBA52, PIK3R1, SYK, INPP5D, UBASH3B, GRB2, TNK2, ADAM15, DOK1, FGFR1, TUBA1A, ERBB3, HSPA5, PHC2, LPHN2, KIAA1522, SHANK3, SYNPO, ADIPOR2, NCK2, FAM217B, FMR1, OLIG1, PIK3R3, SH2D1A, EIF2S2, CEP170, APBB2, TRRAP, UXT, RAD54L, PAPSS1, CLINT1, TRIM14, UBR4, DROSHA, RTEL1, HEATR3, WIPF2, GHR, ABL2, KDR, CDH1, DUSP12, CPNE5, LRFN4


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 HEBP1_NCK1


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 HEBP1_NCK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNCK1C0001925Albuminuria1CTD_human
TgeneNCK1C0027726Nephrotic Syndrome1CTD_human
TgeneNCK1C0033687Proteinuria1CTD_human