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COVID-19 research

Gene: DBR1

Green List (high evidence)

DBR1 (debranching RNA lariats 1)
EnsemblGeneIds (GRCh38): ENSG00000138231
EnsemblGeneIds (GRCh37): ENSG00000138231
OMIM: 607024, Gene2Phenotype
DBR1 is in 2 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene based on substantial genetic evidence that biallelic mutations confer risk of brainstem encephalitis
Created: 27 Apr 2020, 12:08 p.m. | Last Modified: 27 Apr 2020, 12:08 p.m.
Panel Version: 0.163

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Susceptibility to viral encephalitis


Abdelazeem Elhabyan (Arizona State University)

I don't know

I found that it has been promoted from the Australling susceptibility to viral infections on this link

This is based on this notion in this paper :
Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants.

When I reviewed the paper, I found a notion of influenza viral encephalitis among other viruses(eg HSV-1) and a suggestion that this predisposition to the disease is due to the involvement of DBR1 in intrinsic resistance of brainstem cells to those viruses via the enzyme encoded by DBR1.
Created: 9 Apr 2020, 8:08 a.m. | Last Modified: 9 Apr 2020, 8:10 a.m.
Panel Version: 0.75
I do not know how this is related to SARS-CoV-2. I found 2 articles related to retrovirus HIV-1. However, SARS-CoV-2 is not a retrovirus and all its replication cycle is in the cytoplasm. Moreover, In this article (PMID: 24672043), it is stated that the debranching enzyme DBR1 is needed for nuclear reverse transcription only and not cytoplasmic process for HIV-1.
If there is evidence of its relation to SARS-CoV-2 this will help a lot.

PMID: 28931690
Conformational Changes in the 5′ End of the HIV-1 Genome Dependent on the Debranching Enzyme DBR1 during Early Stages of Infection
Our findings support a new view of the early steps in HIV genome replication. We show that the HIV genomic RNA is rapidly decapped and forms a lariat-like structure after entering a cell. The lariat-like structure is subsequently resolved by the cellular enzyme DBR1, leaving a 5′ phosphate. This pathway is similar to the formation and resolution of pre-mRNA intron lariats and therefore suggests that similar mechanisms may be used by HIV. Our work therefore opens a new area of investigation in HIV replication and may ultimately uncover new targets for inhibiting HIV replication and for preventing the development of AIDS.

PMID: 24672043
Impairment of HIV-1 cDNA Synthesis by DBR1 Knockdown
Importance: This study shows that HIV-1 reverse transcription starts in the cytoplasm but is completed in or on the surface of the nucleus. Moreover, we show that nuclear reverse transcription is dependent on the activity of the human RNA lariat debranchng enzyme (DBR1), while cytoplasmic reverse transcription is not. These findings may provide new avenues for inhibiting HIV-1 replication and therefore may lead to new medicines for treating HIV-1-infected individuals.
Created: 7 Apr 2020, 11:53 a.m. | Last Modified: 7 Apr 2020, 11:53 a.m.
Panel Version: 0.59


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • IUIS Classification December 2019
  • DBR1 deficiency
  • Defects in intrinsic and innate immunity
  • HSE of the brainstem. Other viral infections of the brainstem
Clinvar variants
Variants in DBR1
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to DBR1. Added phenotypes DBR1 deficiency; HSE of the brainstem. Other viral infections of the brainstem; Defects in intrinsic and innate immunity for gene: DBR1 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DBR1 was added gene: DBR1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBR1 were set to 32086639; 32048120 Phenotypes for gene: DBR1 were set to DBR1 deficiency; HSE of the brainstem. Other viral infections of the brainstem; Defects in intrinsic and innate immunity