DBP

D-box binding PAR bZIP transcription factor, the group of PAR bZIP family

Basic information

Region (hg38): 19:48630030-48637379

Links

ENSG00000105516 ∙ NCBI:1628 ∙ OMIM:124097 ∙ HGNC:2697 ∙ Uniprot:Q10586 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DBP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DBP gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	3	1

Variants in DBP

This is a list of pathogenic ClinVar variants found in the DBP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-48630903-C-T			Benign (Aug 17, 2018)
19-48633456-C-T			Likely benign (Jun 26, 2018)
19-48633488-T-C		not specified	Uncertain significance (Nov 10, 2024)
19-48633523-T-C		not specified	Uncertain significance (Nov 18, 2022)
19-48633529-C-T		not specified	Uncertain significance (Mar 06, 2023)
19-48633644-G-A		not specified	Uncertain significance (Sep 24, 2024)
19-48633649-G-A		not specified	Uncertain significance (Dec 12, 2023)
19-48635619-C-A		not specified	Uncertain significance (Feb 26, 2024)
19-48635643-G-C		not specified	Uncertain significance (Dec 14, 2023)
19-48635662-C-T			Likely benign (Aug 07, 2018)
19-48635684-G-A		not specified	Uncertain significance (Jun 29, 2023)
19-48635705-G-A		not specified	Uncertain significance (Nov 14, 2023)
19-48635801-G-A		not specified	Uncertain significance (May 14, 2024)
19-48635847-G-C		not specified	Uncertain significance (Nov 06, 2023)
19-48635894-C-A		not specified	Uncertain significance (Mar 24, 2023)
19-48635943-T-G		not specified	Uncertain significance (Aug 27, 2024)
19-48635954-G-A		not specified	Uncertain significance (Dec 07, 2021)
19-48635954-G-C		not specified	Uncertain significance (Oct 20, 2024)
19-48635971-C-A		not specified	Uncertain significance (Jan 26, 2022)
19-48635990-C-T		not specified	Uncertain significance (Jul 12, 2022)
19-48636925-C-T			Likely benign (Aug 01, 2018)
19-48636927-G-C		not specified	Uncertain significance (Dec 13, 2023)
19-48636952-G-C		not specified	Uncertain significance (Jun 30, 2022)
19-48636966-G-A		not specified	Uncertain significance (Dec 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DBP	protein_coding	protein_coding	ENST00000222122	4	7409

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.234	0.736	125022	0	2	125024	0.00000800

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.60	79	130	0.606	0.00000691	1968
Missense in Polyphen		24	46.712	0.51379		473
Synonymous	1.27	46	58.4	0.788	0.00000310	756
Loss of Function	1.82	2	7.30	0.274	3.77e-7	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000580	0.0000580
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This transcriptional activator recognizes and binds to the sequence 5'-RTTAYGTAAY-3' found in the promoter of genes such as albumin, CYP2A4 and CYP2A5. It is not essential for circadian rhythm generation, but modulates important clock output genes. May be a direct target for regulation by the circadian pacemaker component clock. May affect circadian period and sleep regulation.
• Pathway: JAK-STAT-Core;BMAL1-CLOCK,NPAS2 activates circadian gene expression;Circadian Clock;BMAL1:CLOCK,NPAS2 activates circadian gene expression (Consensus)

Recessive Scores

• pRec: 0.121

Haploinsufficiency Scores

• pHI: 0.402
• hipred: Y
• hipred_score: 0.529
• ghis: 0.587

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.965

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dbp
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: liver development;regulation of transcription by RNA polymerase II;circadian rhythm;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific