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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: 37363

FusionGeneSummary for TBC1D22A_BACH2

check button Fusion gene summary
Fusion gene informationFusion gene name: TBC1D22A_BACH2
Fusion gene ID: 37363
HgeneTgene
Gene symbol

TBC1D22A

BACH2

Gene ID

25771

60468

Gene nameTBC1 domain family member 22ABTB domain and CNC homolog 2
SynonymsC22orf4|HSC79E021BTBD25
Cytomap

22q13.31

6q15

Type of geneprotein-codingprotein-coding
DescriptionTBC1 domain family member 22Aputative GTPase activatortranscription regulator protein BACH2BTB and CNC homolog 2BTB and CNC homology 1, basic leucine zipper transcription factor 2
Modification date2018052320180523
UniProtAcc

Q8WUA7

Q9BYV9

Ensembl transtripts involved in fusion geneENST00000337137, ENST00000380995, 
ENST00000407381, ENST00000355704, 
ENST00000472791, ENST00000406733, 
ENST00000257749, ENST00000537989, 
ENST00000343122, ENST00000470301, 
Fusion gene scores* DoF score18 X 10 X 12=21606 X 5 X 4=120
# samples 196
** MAII scorelog2(19/2160*10)=-3.50695998871988
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: TBC1D22A [Title/Abstract] AND BACH2 [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

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-BF-A5EQ-01ATBC1D22Achr22

47158745

+BACH2chr6

90718575

-
* 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-5UTRENST00000337137ENST00000257749TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5CDS-5UTRENST00000337137ENST00000537989TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5CDS-5UTRENST00000337137ENST00000343122TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5CDS-intronENST00000337137ENST00000470301TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5UTR-5UTRENST00000380995ENST00000257749TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5UTR-5UTRENST00000380995ENST00000537989TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5UTR-5UTRENST00000380995ENST00000343122TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5UTR-intronENST00000380995ENST00000470301TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5CDS-5UTRENST00000407381ENST00000257749TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5CDS-5UTRENST00000407381ENST00000537989TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5CDS-5UTRENST00000407381ENST00000343122TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5CDS-intronENST00000407381ENST00000470301TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5CDS-5UTRENST00000355704ENST00000257749TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5CDS-5UTRENST00000355704ENST00000537989TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5CDS-5UTRENST00000355704ENST00000343122TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
5CDS-intronENST00000355704ENST00000470301TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
intron-5UTRENST00000472791ENST00000257749TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
intron-5UTRENST00000472791ENST00000537989TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
intron-5UTRENST00000472791ENST00000343122TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
intron-intronENST00000472791ENST00000470301TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
intron-5UTRENST00000406733ENST00000257749TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
intron-5UTRENST00000406733ENST00000537989TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
intron-5UTRENST00000406733ENST00000343122TBC1D22Achr22

47158745

+BACH2chr6

90718575

-
intron-intronENST00000406733ENST00000470301TBC1D22Achr22

47158745

+BACH2chr6

90718575

-

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FusionProtFeatures for TBC1D22A_BACH2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TBC1D22A

Q8WUA7

BACH2

Q9BYV9

Transcriptional regulator that acts as repressor oractivator (By similarity). Binds to Maf recognition elements(MARE) (By similarity). Plays an important role in coordinatingtranscription activation and repression by MAFK (By similarity).Induces apoptosis in response to oxidative stress throughrepression of the antiapoptotic factor HMOX1 (PubMed:17018862).Positively regulates the nuclear import of actin (By similarity).{ECO:0000250|UniProtKB:P97303, ECO:0000269|PubMed:17018862}.

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 TBC1D22A_BACH2


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 TBC1D22A_BACH2


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
TBC1D22AYWHAB, HSPA1L, ACBD3, FDXR, ACSL4, FLYWCH2, BIRC6, ARFGEF1, QSOX2, MICU1, KIRREL, MICU2, DNAJB4, SUPT6H, EFNB3, EPHA4, EXOG, METTL13, PVRL2, DNAJB5, AMBRA1, CERK, TBC1D22BBACH2PATZ1, BCL6, NCOR2, ARRB1, COPS6, MAFG, MAFF, NFE2L3, NFE2L1, BATF3, DDIT3, FOSL2, TULP3


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 TBC1D22A_BACH2


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 TBC1D22A_BACH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBACH2C0007570Celiac Disease1CTD_human
TgeneBACH2C0010346Crohn Disease1CTD_human
TgeneBACH2C0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneBACH2C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneBACH2C0042900Vitiligo1CTD_human