DTNB

dystrobrevin beta, the group of Zinc fingers ZZ-type

Basic information

Region (hg38): 2:25377198-25673647

Links

ENSG00000138101 ∙ NCBI:1838 ∙ OMIM:602415 ∙ HGNC:3058 ∙ Uniprot:O60941 ∙ 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 DTNB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DTNB 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				1	1	2
missense			32	2		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	3	1

Variants in DTNB

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

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

Position	Type	Phenotype	Significance	ClinVar
2-25379323-C-T		not specified	Uncertain significance (Apr 20, 2023)
2-25383878-C-A		not specified	Uncertain significance (Nov 18, 2022)
2-25383884-C-T		not specified	Uncertain significance (Aug 16, 2022)
2-25387334-A-T		not specified	Uncertain significance (Nov 03, 2023)
2-25387358-T-G		not specified	Uncertain significance (Nov 30, 2022)
2-25387375-G-A		not specified	Uncertain significance (Mar 01, 2023)
2-25388213-G-A		not specified	Uncertain significance (Dec 19, 2022)
2-25388223-C-A		not specified	Uncertain significance (Jun 28, 2023)
2-25388233-G-A			Benign (Dec 31, 2019)
2-25388237-C-T		not specified	Uncertain significance (Aug 20, 2024)
2-25388277-C-T		not specified	Uncertain significance (Dec 26, 2023)
2-25388313-G-A		not specified	Uncertain significance (Sep 12, 2024)
2-25388321-C-G		not specified	Uncertain significance (Mar 21, 2022)
2-25432977-G-A		not specified	Uncertain significance (Jul 14, 2024)
2-25433923-C-G		not specified	Uncertain significance (Aug 20, 2024)
2-25433961-T-C		not specified	Uncertain significance (May 27, 2022)
2-25433966-G-A			Likely benign (Nov 01, 2022)
2-25433991-C-T		not specified	Uncertain significance (Jul 09, 2021)
2-25451550-C-T		not specified	Likely benign (Mar 29, 2022)
2-25451586-G-A		not specified	Uncertain significance (Feb 02, 2024)
2-25451598-G-A		not specified	Uncertain significance (Feb 06, 2023)
2-25451615-C-T		not specified	Uncertain significance (Mar 15, 2024)
2-25455406-G-A		not specified	Uncertain significance (May 23, 2023)
2-25455447-G-A		not specified	Uncertain significance (Aug 27, 2024)
2-25455450-T-C		not specified	Uncertain significance (Jun 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DTNB	protein_coding	protein_coding	ENST00000406818	19	296437

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.80e-10	0.995	124984	1	62	125047	0.000252

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.567	333	363	0.916	0.0000213	4108
Missense in Polyphen		129	142.97	0.90228		1727
Synonymous	0.769	120	131	0.915	0.00000748	1171
Loss of Function	2.61	22	39.8	0.553	0.00000238	429

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000372	0.000371
Ashkenazi Jewish	0.000107	0.0000993
East Asian	0.000168	0.000165
Finnish	0.000292	0.000278
European (Non-Finnish)	0.000299	0.000273
Middle Eastern	0.000168	0.000165
South Asian	0.000297	0.000294
Other	0.000344	0.000330

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.500

Intolerance Scores

• rvis_EVS: -0.8
• rvis_percentile_EVS: 12.46

Haploinsufficiency Scores

• pHI: 0.592
• hipred: N
• hipred_score: 0.414
• ghis: 0.568

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.478

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dtnb
• 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); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Cellular component: cytoplasm
• Molecular function: protein binding;zinc ion binding