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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: 7014

FusionGeneSummary for CHD7_ANK1

check button Fusion gene summary
Fusion gene informationFusion gene name: CHD7_ANK1
Fusion gene ID: 7014
HgeneTgene
Gene symbol

CHD7

ANK1

Gene ID

55636

286

Gene namechromodomain helicase DNA binding protein 7ankyrin 1
SynonymsCRG|HH5|IS3|KAL5ANK|SPH1|SPH2
Cytomap

8q12.2

8p11.21

Type of geneprotein-codingprotein-coding
Descriptionchromodomain-helicase-DNA-binding protein 7ATP-dependent helicase CHD7CHARGE associationchromodomain helicase DNA binding protein 7 isoform CRA_eankyrin-1ANK-1ankyrin 1, erythrocyticankyrin-Rerythrocyte ankyrin
Modification date2018051920180523
UniProtAcc

Q9P2D1

P16157

Ensembl transtripts involved in fusion geneENST00000423902, ENST00000524602, 
ENST00000525508, ENST00000529472, 
ENST00000347528, ENST00000289734, 
ENST00000379758, ENST00000396942, 
ENST00000396945, ENST00000352337, 
ENST00000265709, ENST00000457297, 
ENST00000522231, ENST00000522543, 
ENST00000314214, ENST00000521407, 
Fusion gene scores* DoF score10 X 6 X 6=3609 X 5 X 7=315
# samples 1211
** MAII scorelog2(12/360*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/315*10)=-1.51784830486262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CHD7 [Title/Abstract] AND ANK1 [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
TgeneANK1

GO:0006888

ER to Golgi vesicle-mediated transport

18768923


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
TCGALDOVTCGA-24-1604-01ACHD7chr8

61721943

+ANK1chr8

41583464

-
* 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-3CDSENST00000423902ENST00000347528CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000423902ENST00000289734CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000423902ENST00000379758CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000423902ENST00000396942CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000423902ENST00000396945CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000423902ENST00000352337CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000423902ENST00000265709CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000423902ENST00000457297CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000423902ENST00000522231CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000423902ENST00000522543CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000423902ENST00000314214CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000423902ENST00000521407CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000524602ENST00000347528CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000524602ENST00000289734CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000524602ENST00000379758CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000524602ENST00000396942CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000524602ENST00000396945CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000524602ENST00000352337CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000524602ENST00000265709CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000524602ENST00000457297CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000524602ENST00000522231CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000524602ENST00000522543CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000524602ENST00000314214CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000524602ENST00000521407CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000525508ENST00000347528CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000525508ENST00000289734CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000525508ENST00000379758CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000525508ENST00000396942CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000525508ENST00000396945CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000525508ENST00000352337CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000525508ENST00000265709CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000525508ENST00000457297CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000525508ENST00000522231CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000525508ENST00000522543CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000525508ENST00000314214CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000525508ENST00000521407CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000529472ENST00000347528CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000529472ENST00000289734CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000529472ENST00000379758CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000529472ENST00000396942CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000529472ENST00000396945CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000529472ENST00000352337CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-3CDSENST00000529472ENST00000265709CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000529472ENST00000457297CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000529472ENST00000522231CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000529472ENST00000522543CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000529472ENST00000314214CHD7chr8

61721943

+ANK1chr8

41583464

-
intron-intronENST00000529472ENST00000521407CHD7chr8

61721943

+ANK1chr8

41583464

-

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FusionProtFeatures for CHD7_ANK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHD7

Q9P2D1

ANK1

P16157


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 CHD7_ANK1


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 CHD7_ANK1


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
CHD7CTCF, TERF2, SMARCA4, SMARCC2, SMARCC1, SMARCE1, PBRM1, BRD7, ARID2, SOX2, MTA2, MTA1, GATAD2A, SALL3, ARID1A, ZBTB20, OLIG1, VARS, SIRT7, CHD8, NES, SNW1, POU5F1, WDR5, ASH2L, RBBP5, AR, TRIM25ANK1RHAG, OBSCN, SPTB, TTN, SLC4A1, SLC4A3, SPTA1, TIAM1, KCTD6, CUL3, SPTBN1, TGFBR1, CD44, HSPB1, RYR1, RAPGEF5, CHL1, FIG4, PIKFYVE, MB, PDS5B, VAC14, NELFB


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 CHD7_ANK1


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 CHD7_ANK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHD7C0265354CHARGE Syndrome14CTD_human;ORPHANET;UNIPROT
HgeneCHD7C3552553HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA4UNIPROT
TgeneANK1C2674218SPHEROCYTOSIS, TYPE 1 (disorder)2CTD_human;UNIPROT
TgeneANK1C0005941Bone Diseases, Developmental1CTD_human