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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: 15861

FusionGeneSummary for HBA1_GATA1

check button Fusion gene summary
Fusion gene informationFusion gene name: HBA1_GATA1
Fusion gene ID: 15861
HgeneTgene
Gene symbol

HBA1

GATA1

Gene ID

3039

2623

Gene namehemoglobin subunit alpha 1GATA binding protein 1
SynonymsHBA-T3|HBH|METHBAERYF1|GATA-1|GF-1|GF1|NF-E1|NFE1|XLANP|XLTDA|XLTT
Cytomap

16p13.3

Xp11.23

Type of geneprotein-codingprotein-coding
Descriptionhemoglobin subunit alphaalpha globin chainalpha one globinalpha-2 globin chaindelta globinhemoglobin alpha 1 globin chainhemoglobin, alpha 1erythroid transcription factorGATA-binding factor 1NF-E1 DNA-binding proteinerythroid transcription factor 1globin transcription factor 1nuclear factor, erythroid 1transcription factor GATA1
Modification date2018052520180523
UniProtAcc

P69905

P15976

Ensembl transtripts involved in fusion geneENST00000320868, ENST00000397797, 
ENST00000376670, ENST00000376665, 
Fusion gene scores* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: HBA1 [Title/Abstract] AND GATA1 [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
HgeneHBA1

GO:0010942

positive regulation of cell death

19740759

HgeneHBA1

GO:0042542

response to hydrogen peroxide

19740759

HgeneHBA1

GO:0042744

hydrogen peroxide catabolic process

19740759

HgeneHBA1

GO:0051291

protein heterooligomerization

19740759

TgeneGATA1

GO:0000122

negative regulation of transcription by RNA polymerase II

22235304

TgeneGATA1

GO:0006366

transcription by RNA polymerase II

2467208

TgeneGATA1

GO:0010724

regulation of definitive erythrocyte differentiation

12200364|15920471

TgeneGATA1

GO:0035854

eosinophil fate commitment

12045236

TgeneGATA1

GO:0045893

positive regulation of transcription, DNA-templated

24245781

TgeneGATA1

GO:0045944

positive regulation of transcription by RNA polymerase II

12200364

TgeneGATA1

GO:0097067

cellular response to thyroid hormone stimulus

19375645

TgeneGATA1

GO:2000678

negative regulation of transcription regulatory region DNA binding

15920471


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
ChiTaRS3.1AI064977HBA1chr16

227079

-GATA1chrX

48651594

+
* 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
In-frameENST00000320868ENST00000376670HBA1chr16

227079

-GATA1chrX

48651594

+
In-frameENST00000320868ENST00000376665HBA1chr16

227079

-GATA1chrX

48651594

+
In-frameENST00000397797ENST00000376670HBA1chr16

227079

-GATA1chrX

48651594

+
In-frameENST00000397797ENST00000376665HBA1chr16

227079

-GATA1chrX

48651594

+

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FusionProtFeatures for HBA1_GATA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HBA1

P69905

GATA1

P15976

Involved in oxygen transport from the lung to thevarious peripheral tissues. Transcriptional activator or repressor which probablyserves as a general switch factor for erythroid development. Itbinds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3'within regulatory regions of globin genes and of other genesexpressed in erythroid cells. Activates the transcription of genesinvolved in erythroid differentiation of K562 erythroleukemiacells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781).{ECO:0000269|PubMed:22235304, ECO:0000269|PubMed:24245781}.

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 HBA1_GATA1


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.
>In-frame_HBA1_ENST00000320868_chr16_227079_-_GATA1_ENST00000376670_chrX_48651594_+_0aa

>In-frame_HBA1_ENST00000320868_chr16_227079_-_GATA1_ENST00000376665_chrX_48651594_+_0aa

>In-frame_HBA1_ENST00000397797_chr16_227079_-_GATA1_ENST00000376670_chrX_48651594_+_0aa

>In-frame_HBA1_ENST00000397797_chr16_227079_-_GATA1_ENST00000376665_chrX_48651594_+_0aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_HBA1_ENST00000320868_chr16_227079_-_GATA1_ENST00000376670_chrX_48651594_+_0nt

>In-frame_HBA1_ENST00000320868_chr16_227079_-_GATA1_ENST00000376665_chrX_48651594_+_0nt

>In-frame_HBA1_ENST00000397797_chr16_227079_-_GATA1_ENST00000376670_chrX_48651594_+_0nt

>In-frame_HBA1_ENST00000397797_chr16_227079_-_GATA1_ENST00000376665_chrX_48651594_+_0nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_HBA1_ENST00000320868_chr16_227079_-_GATA1_ENST00000376670_chrX_48651594_+_0nt

>In-frame_HBA1_ENST00000320868_chr16_227079_-_GATA1_ENST00000376665_chrX_48651594_+_0nt

>In-frame_HBA1_ENST00000397797_chr16_227079_-_GATA1_ENST00000376670_chrX_48651594_+_0nt

>In-frame_HBA1_ENST00000397797_chr16_227079_-_GATA1_ENST00000376665_chrX_48651594_+_0nt


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FusionGenePPI for HBA1_GATA1


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 HBA1_GATA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHBA1P69905DB01592IronHemoglobin subunit alphasmall moleculeapproved
HgeneHBA1P69905DB09146Iron saccharateHemoglobin subunit alphasmall moleculeapproved
HgeneHBA1P69905DB00358MefloquineHemoglobin subunit alphasmall moleculeapproved|investigational
HgeneHBA1P69905DB01593ZincHemoglobin subunit alphasmall moleculeapproved|investigational
HgeneHBA1P69905DB09112Nitrous acidHemoglobin subunit alphasmall moleculeapproved|investigational
HgeneHBA1P69905DB09140OxygenHemoglobin subunit alphasmall moleculeapproved|vet_approved

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RelatedDiseases for HBA1_GATA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHBA1C0002312alpha-Thalassemia1CTD_human
HgeneHBA1C0007785Cerebral Infarction1CTD_human
HgeneHBA1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneHBA1C0024667Animal Mammary Neoplasms1CTD_human
HgeneHBA1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneHBA1C0025637Methemoglobinemia1CTD_human
HgeneHBA1C0032461Polycythemia1CTD_human
HgeneHBA1C0032463Polycythemia Vera1CTD_human
HgeneHBA1C0263454Chloracne1CTD_human
TgeneGATA1C3550789THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA4CTD_human;ORPHANET;UNIPROT
TgeneGATA1C0040034Thrombocytopenia1CTD_human;HPO
TgeneGATA1C1839161Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis1CTD_human;ORPHANET;UNIPROT
TgeneGATA1C1860788Transient Myeloproliferative Disorder of Down Syndrome1CTD_human