DEFB112

defensin beta 112, the group of Defensins, beta

Basic information

Region (hg38): 6:50042099-50049929

Links

ENSG00000180872 ∙ NCBI:245915 ∙ ∙ HGNC:18093 ∙ Uniprot:Q30KQ8 ∙ 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 DEFB112 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB112 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						0
missense			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in DEFB112

This is a list of pathogenic ClinVar variants found in the DEFB112 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-50043583-G-A		not specified	Uncertain significance (Apr 06, 2024)
6-50043625-T-G		not specified	Uncertain significance (Feb 17, 2022)
6-50043658-A-G		not specified	Uncertain significance (Jul 13, 2021)
6-50043664-T-C		not specified	Uncertain significance (Mar 02, 2023)
6-50043684-G-A		not specified	Uncertain significance (Sep 22, 2022)
6-50043717-T-C		not specified	Uncertain significance (Jul 20, 2022)
6-50048551-T-C		not specified	Uncertain significance (Nov 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB112	protein_coding	protein_coding	ENST00000322246	2	5077

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0207	0.534	125652	0	2	125654	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.08	88	63.7	1.38	0.00000332	739
Missense in Polyphen		2	2.5327	0.78967		25
Synonymous	-0.990	28	22.1	1.27	0.00000119	202
Loss of Function	-0.233	2	1.68	1.19	6.88e-8	26

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000886	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has antibacterial activity. {ECO:0000250}.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System;Beta defensins;Defensins (Consensus)

Intolerance Scores

• loftool: 0.497
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.95

Haploinsufficiency Scores

• pHI: 0.0598
• hipred: N
• hipred_score: 0.146
• ghis: 0.423

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.138

Gene Damage Prediction

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

Gene ontology

• Biological process: defense response to bacterium;innate immune response
• Cellular component: extracellular region