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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: 1920

FusionGeneSummary for ANO1_KIF21A

check button Fusion gene summary
Fusion gene informationFusion gene name: ANO1_KIF21A
Fusion gene ID: 1920
HgeneTgene
Gene symbol

ANO1

KIF21A

Gene ID

55107

55605

Gene nameanoctamin 1kinesin family member 21A
SynonymsDOG1|ORAOV2|TAOS2|TMEM16ACFEOM1|FEOM1|FEOM3A
Cytomap

11q13.3

12q12

Type of geneprotein-codingprotein-coding
Descriptionanoctamin-1Ca2+-activated Cl- channelanoctamin 1, calcium activated chloride channelcalcium activated chloride channeldiscovered on gastrointestinal stromal tumors protein 1oral cancer overexpressed 2transmembrane protein 16A (eight membrane-spanninkinesin-like protein KIF21Akinesin-like protein KIF2renal carcinoma antigen NY-REN-62
Modification date2018051920180523
UniProtAcc

Q5XXA6

Q7Z4S6

Ensembl transtripts involved in fusion geneENST00000355303, ENST00000398543, 
ENST00000538023, ENST00000316296, 
ENST00000530676, ENST00000531349, 
ENST00000525494, 
ENST00000361961, 
ENST00000395670, ENST00000544797, 
ENST00000361418, ENST00000541463, 
ENST00000547745, 
Fusion gene scores* DoF score15 X 11 X 8=13206 X 5 X 4=120
# samples 156
** MAII scorelog2(15/1320*10)=-3.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANO1 [Title/Abstract] AND KIF21A [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
HgeneANO1

GO:0006812

cation transport

22946059


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
TCGARVSKCMTCGA-EB-A5SH-06AANO1chr11

69924820

+KIF21Achr12

39705355

-
* 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
Frame-shiftENST00000355303ENST00000361961ANO1chr11

69924820

+KIF21Achr12

39705355

-
Frame-shiftENST00000355303ENST00000395670ANO1chr11

69924820

+KIF21Achr12

39705355

-
Frame-shiftENST00000355303ENST00000544797ANO1chr11

69924820

+KIF21Achr12

39705355

-
Frame-shiftENST00000355303ENST00000361418ANO1chr11

69924820

+KIF21Achr12

39705355

-
Frame-shiftENST00000355303ENST00000541463ANO1chr11

69924820

+KIF21Achr12

39705355

-
5CDS-5UTRENST00000355303ENST00000547745ANO1chr11

69924820

+KIF21Achr12

39705355

-
5UTR-3CDSENST00000398543ENST00000361961ANO1chr11

69924820

+KIF21Achr12

39705355

-
5UTR-3CDSENST00000398543ENST00000395670ANO1chr11

69924820

+KIF21Achr12

39705355

-
5UTR-3CDSENST00000398543ENST00000544797ANO1chr11

69924820

+KIF21Achr12

39705355

-
5UTR-3CDSENST00000398543ENST00000361418ANO1chr11

69924820

+KIF21Achr12

39705355

-
5UTR-3CDSENST00000398543ENST00000541463ANO1chr11

69924820

+KIF21Achr12

39705355

-
5UTR-5UTRENST00000398543ENST00000547745ANO1chr11

69924820

+KIF21Achr12

39705355

-
Frame-shiftENST00000538023ENST00000361961ANO1chr11

69924820

+KIF21Achr12

39705355

-
Frame-shiftENST00000538023ENST00000395670ANO1chr11

69924820

+KIF21Achr12

39705355

-
Frame-shiftENST00000538023ENST00000544797ANO1chr11

69924820

+KIF21Achr12

39705355

-
Frame-shiftENST00000538023ENST00000361418ANO1chr11

69924820

+KIF21Achr12

39705355

-
Frame-shiftENST00000538023ENST00000541463ANO1chr11

69924820

+KIF21Achr12

39705355

-
5CDS-5UTRENST00000538023ENST00000547745ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000316296ENST00000361961ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000316296ENST00000395670ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000316296ENST00000544797ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000316296ENST00000361418ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000316296ENST00000541463ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-5UTRENST00000316296ENST00000547745ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000530676ENST00000361961ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000530676ENST00000395670ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000530676ENST00000544797ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000530676ENST00000361418ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000530676ENST00000541463ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-5UTRENST00000530676ENST00000547745ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000531349ENST00000361961ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000531349ENST00000395670ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000531349ENST00000544797ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000531349ENST00000361418ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000531349ENST00000541463ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-5UTRENST00000531349ENST00000547745ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000525494ENST00000361961ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000525494ENST00000395670ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000525494ENST00000544797ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000525494ENST00000361418ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-3CDSENST00000525494ENST00000541463ANO1chr11

69924820

+KIF21Achr12

39705355

-
intron-5UTRENST00000525494ENST00000547745ANO1chr11

69924820

+KIF21Achr12

39705355

-

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FusionProtFeatures for ANO1_KIF21A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANO1

Q5XXA6

KIF21A

Q7Z4S6

Calcium-activated chloride channel (CaCC) which plays arole in transepithelial anion transport and smooth musclecontraction. Required for the normal functioning of theinterstitial cells of Cajal (ICCs) which generate electricalpacemaker activity in gastrointestinal smooth muscles. Acts as amajor contributor to basal and stimulated chloride conductance inairway epithelial cells and plays an important role in trachealcartilage development. {ECO:0000269|PubMed:20056604,ECO:0000269|PubMed:21984732, ECO:0000269|PubMed:22178883,ECO:0000269|PubMed:22946059}.

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 ANO1_KIF21A


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 ANO1_KIF21A


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
ANO1EWSR1KIF21AELAVL1, NCS1, SRP68, SRP72, SHMT2, MOV10, NXF1, NTRK1, CCT6A, MAP3K4, NVL, PFDN1, PFDN2, RAD51, RBM4, TBX3, TCP1, CCT3, NCOA4, UBL4A, PPFIBP1, NOLC1, CCT7, CCT4, CCT2, TACC2, CCT8, RAB11FIP2, CCT5, ENDOD1, KANK1, KANK2, NOL8, PLXNA3, DYNLL1, KIF21B, PHRF1, RNF123, ZNF106, ZNF668, FIP1L1, CD99L2, MSI2, DGKH, C6orf136, TTC9C, SNW1, CDC5L, P4HA3, TRIM25


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 ANO1_KIF21A


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 ANO1_KIF21A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKIF21AC1851102Fibrosis Of Extraocular Muscles, Congenital, 14ORPHANET;UNIPROT
TgeneKIF21AC0149925Small cell carcinoma of lung1CTD_human