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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: 22

FusionGeneSummary for AAAS_KDM2A

check button Fusion gene summary
Fusion gene informationFusion gene name: AAAS_KDM2A
Fusion gene ID: 22
HgeneTgene
Gene symbol

AAAS

KDM2A

Gene ID

8086

22992

Gene namealadin WD repeat nucleoporinlysine demethylase 2A
SynonymsAAA|AAASb|ADRACALA|ADRACALIN|ALADIN|GL003CXXC8|FBL11|FBL7|FBXL11|JHDM1A|LILINA
Cytomap

12q13.13

11q13.2

Type of geneprotein-codingprotein-coding
DescriptionaladinAllgrove, triple-Aachalasia, adrenocortical insufficiency, alacrimialysine-specific demethylase 2ACXXC-type zinc finger protein 8F-box and leucine-rich repeat protein 11F-box/LRR-repeat protein 11[Histone-H3]-lysine-36 demethylase 1AjmjC domain-containing histone demethylation protein 1Ajumonji C domain-containing h
Modification date2018052320180519
UniProtAcc

Q9NRG9

Q9Y2K7

Ensembl transtripts involved in fusion geneENST00000209873, ENST00000394384, 
ENST00000550286, ENST00000549983, 
ENST00000398645, ENST00000529006, 
ENST00000526258, ENST00000308783, 
ENST00000530342, 
Fusion gene scores* DoF score7 X 5 X 3=10516 X 14 X 7=1568
# samples 718
** MAII scorelog2(7/105*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1568*10)=-3.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AAAS [Title/Abstract] AND KDM2A [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
HgeneAAAS

GO:0006913

nucleocytoplasmic transport

12730363


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
ChiTaRS3.1BQ301032AAASchr12

53715001

+KDM2Achr11

66901279

+
* 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-intronENST00000209873ENST00000398645AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000209873ENST00000529006AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000209873ENST00000526258AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000209873ENST00000308783AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000209873ENST00000530342AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000394384ENST00000398645AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000394384ENST00000529006AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000394384ENST00000526258AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000394384ENST00000308783AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000394384ENST00000530342AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000550286ENST00000398645AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000550286ENST00000529006AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000550286ENST00000526258AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000550286ENST00000308783AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000550286ENST00000530342AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000549983ENST00000398645AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000549983ENST00000529006AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000549983ENST00000526258AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000549983ENST00000308783AAASchr12

53715001

+KDM2Achr11

66901279

+
intron-intronENST00000549983ENST00000530342AAASchr12

53715001

+KDM2Achr11

66901279

+

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FusionProtFeatures for AAAS_KDM2A


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

Q9NRG9

KDM2A

Q9Y2K7

Plays a role in the normal development of the peripheraland central nervous system.

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 AAAS_KDM2A


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 AAAS_KDM2A


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


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 AAAS_KDM2A


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 AAAS_KDM2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAAASC0271742Glucocorticoid deficiency with achalasia3CTD_human;ORPHANET;UNIPROT
HgeneAAASC0033578Prostatic Neoplasms1CTD_human