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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: 1212

FusionGeneSummary for AHI1_CHEK2

check button Fusion gene summary
Fusion gene informationFusion gene name: AHI1_CHEK2
Fusion gene ID: 1212
HgeneTgene
Gene symbol

AHI1

CHEK2

Gene ID

54806

11200

Gene nameAbelson helper integration site 1checkpoint kinase 2
SynonymsAHI-1|JBTS3|ORF1|dJ71N10.1CDS1|CHK2|HuCds1|LFS2|PP1425|RAD53|hCds1
Cytomap

6q23.3

22q12.1

Type of geneprotein-codingprotein-coding
Descriptionjouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domainsserine/threonine-protein kinase Chk2CHK2 checkpoint homologcds1 homologcheckpoint-like protein CHK2
Modification date2018051920180527
UniProtAcc

Q8N157

O96017

Ensembl transtripts involved in fusion geneENST00000367800, ENST00000457866, 
ENST00000417892, ENST00000327035, 
ENST00000488690, ENST00000367798, 
ENST00000528103, ENST00000534469, 
ENST00000531527, 
ENST00000382565, 
ENST00000382578, ENST00000382566, 
ENST00000348295, ENST00000544772, 
ENST00000404276, ENST00000328354, 
ENST00000405598, ENST00000382580, 
ENST00000402731, ENST00000403642, 
ENST00000464581, 
Fusion gene scores* DoF score6 X 7 X 4=1683 X 2 X 3=18
# samples 73
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AHI1 [Title/Abstract] AND CHEK2 [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
TgeneCHEK2

GO:0006355

regulation of transcription, DNA-templated

12717439

TgeneCHEK2

GO:0006468

protein phosphorylation

12717439

TgeneCHEK2

GO:0006974

cellular response to DNA damage stimulus

24550317

TgeneCHEK2

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

12402044

TgeneCHEK2

GO:0042770

signal transduction in response to DNA damage

14744935

TgeneCHEK2

GO:0045893

positive regulation of transcription, DNA-templated

17101782

TgeneCHEK2

GO:0046777

protein autophosphorylation

16794575|18644861

TgeneCHEK2

GO:0050821

protein stabilization

12717439


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
TCGARVBRCATCGA-EW-A1IX-01AAHI1chr6

135644300

-CHEK2chr22

29121355

-
* 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-intronENST00000367800ENST00000382565AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000367800ENST00000382578AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000367800ENST00000382566AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000367800ENST00000348295AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000367800ENST00000544772AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000367800ENST00000404276AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000367800ENST00000328354AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000367800ENST00000405598AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000367800ENST00000382580AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000367800ENST00000402731AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000367800ENST00000403642AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000367800ENST00000464581AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000457866ENST00000382565AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000457866ENST00000382578AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000457866ENST00000382566AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000457866ENST00000348295AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000457866ENST00000544772AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000457866ENST00000404276AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000457866ENST00000328354AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000457866ENST00000405598AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000457866ENST00000382580AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000457866ENST00000402731AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000457866ENST00000403642AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000457866ENST00000464581AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000417892ENST00000382565AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000417892ENST00000382578AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000417892ENST00000382566AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000417892ENST00000348295AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000417892ENST00000544772AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000417892ENST00000404276AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000417892ENST00000328354AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000417892ENST00000405598AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000417892ENST00000382580AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-5UTRENST00000417892ENST00000402731AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000417892ENST00000403642AHI1chr6

135644300

-CHEK2chr22

29121355

-
5CDS-intronENST00000417892ENST00000464581AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000327035ENST00000382565AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000327035ENST00000382578AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000327035ENST00000382566AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000327035ENST00000348295AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000327035ENST00000544772AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000327035ENST00000404276AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000327035ENST00000328354AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000327035ENST00000405598AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000327035ENST00000382580AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000327035ENST00000402731AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000327035ENST00000403642AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000327035ENST00000464581AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000488690ENST00000382565AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000488690ENST00000382578AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000488690ENST00000382566AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000488690ENST00000348295AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000488690ENST00000544772AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000488690ENST00000404276AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000488690ENST00000328354AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000488690ENST00000405598AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000488690ENST00000382580AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000488690ENST00000402731AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000488690ENST00000403642AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000488690ENST00000464581AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000367798ENST00000382565AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000367798ENST00000382578AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000367798ENST00000382566AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000367798ENST00000348295AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000367798ENST00000544772AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000367798ENST00000404276AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000367798ENST00000328354AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000367798ENST00000405598AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000367798ENST00000382580AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000367798ENST00000402731AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000367798ENST00000403642AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000367798ENST00000464581AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000528103ENST00000382565AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000528103ENST00000382578AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000528103ENST00000382566AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000528103ENST00000348295AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000528103ENST00000544772AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000528103ENST00000404276AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000528103ENST00000328354AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000528103ENST00000405598AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000528103ENST00000382580AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000528103ENST00000402731AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000528103ENST00000403642AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000528103ENST00000464581AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000534469ENST00000382565AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000534469ENST00000382578AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000534469ENST00000382566AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000534469ENST00000348295AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000534469ENST00000544772AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000534469ENST00000404276AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000534469ENST00000328354AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000534469ENST00000405598AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000534469ENST00000382580AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000534469ENST00000402731AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000534469ENST00000403642AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000534469ENST00000464581AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000531527ENST00000382565AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000531527ENST00000382578AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000531527ENST00000382566AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000531527ENST00000348295AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000531527ENST00000544772AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000531527ENST00000404276AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000531527ENST00000328354AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000531527ENST00000405598AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000531527ENST00000382580AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-5UTRENST00000531527ENST00000402731AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000531527ENST00000403642AHI1chr6

135644300

-CHEK2chr22

29121355

-
intron-intronENST00000531527ENST00000464581AHI1chr6

135644300

-CHEK2chr22

29121355

-

Top

FusionProtFeatures for AHI1_CHEK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AHI1

Q8N157

CHEK2

O96017


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


Top

FusionGeneSequence for AHI1_CHEK2


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).

Top

FusionGenePPI for AHI1_CHEK2


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
AHI1ELAVL1, KHDRBS1, DNM2, OFD1, PCM1, DSP, DVL1, ECD, HAUS8, IQCB1, MAPK9, MB21D2, NMT1, PPP2CA, PPP2R1A, PPP2R2A, SIRT2, SSX2IP, UNC45A, CEP131, CAD, CCDC138, LRRC49, MED4, PPP2R2B, SRP72, WRAP73, CC2D2A, DOCK5, PTPRQ, PIBF1, SLC9A3R2, PAFAH1B1, NINL, DCTN1, DCTN2CHEK2MSH2, BRCA1, MDC1, PLK3, PLK1, GINS2, VCP, BRCA2, RAD50, TP53BP1, MUS81, CDC25A, MDM2, MDM4, FOXM1, ATR, CDC25C, REV3L, TP53, ATM, AATF, CHEK2, PPP2R2B, PPP2R5A, PPP2R5D, PPP2R5C, PPP2R5E, PPP2R5B, PPP2R1A, PPP2CA, ELAVL1, TRIM28, RNF8, PSME3, LATS2, KAT2B, PML, UBR5, DAPK3, RB1, KPNA2, APP, STRAP, CUL4A, CUL1, PER3, RCHY1, VHL, PRKDC, NR4A1, POLR2L, ARHGAP1, SRPK1, TEX264, SIRT1, CCAR2, ILKAP, MAPK1, MAPK3, BEX1, CCL5, CDH13, CYP17A1, DIRAS3, FAM84B, HOXC6, IL24, ITIH5, KLK7, KLK9, LYPD3, PRDM14, PSMC3IP, RHOBTB2, RNF20, ST14, WHSC1L1, BAALC, ENO1, GNAS, HMGN1, SLC25A6, PRMT2, STMN1, TLR3, SRPK2, FOS, FOXK1, FOXK2, SIAH2, ERBB2, KMT2D, CDK4, TP63, WEE1, CHEK1, CDC6, CDC73, BLM, RFC1, RAD17, FZR1, ATAD5, LLGL1, CDC14A, RPS10, WRN, DAAM1, TTN, BRD4, TUBA1A, PPM1D


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


Top

RelatedDrugs for AHI1_CHEK2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for AHI1_CHEK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAHI1C1837713JOUBERT SYNDROME 35CTD_human;UNIPROT
HgeneAHI1C0004352Autistic Disorder1CTD_human
HgeneAHI1C0005586Bipolar Disorder1PSYGENET
HgeneAHI1C0007760Cerebellar Diseases1CTD_human
HgeneAHI1C0035304Retinal Degeneration1CTD_human
HgeneAHI1C0036341Schizophrenia1CTD_human
HgeneAHI1C0162538Immunoglobulin A deficiency (disorder)1CTD_human
HgeneAHI1C3714756Intellectual Disability1CTD_human;HPO
TgeneCHEK2C1836482Li-Fraumeni Syndrome 26CTD_human;UNIPROT
TgeneCHEK2C0376358Malignant neoplasm of prostate4UNIPROT
TgeneCHEK2C1458155Mammary Neoplasms4CTD_human
TgeneCHEK2C0085390Li-Fraumeni Syndrome2CTD_human;ORPHANET
TgeneCHEK2C0006142Malignant neoplasm of breast1UNIPROT
TgeneCHEK2C0009404Colorectal Neoplasms1CTD_human
TgeneCHEK2C0024121Lung Neoplasms1CTD_human
TgeneCHEK2C0024305Lymphoma, Non-Hodgkin1CTD_human
TgeneCHEK2C0027819Neuroblastoma1CTD_human
TgeneCHEK2C0029463Osteosarcoma1CTD_human;HPO;ORPHANET
TgeneCHEK2C0033578Prostatic Neoplasms1CTD_human
TgeneCHEK2C0038356Stomach Neoplasms1CTD_human
TgeneCHEK2C0206720Squamous Cell Neoplasms1CTD_human
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