DEFB135

defensin beta 135, the group of Defensins, beta

Basic information

Region (hg38): 8:11982256-11984590

Links

ENSG00000205883 ∙ NCBI:613209 ∙ ∙ HGNC:32400 ∙ Uniprot:Q30KP9 ∙ 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 DEFB135 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB135 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			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	1	0

Variants in DEFB135

This is a list of pathogenic ClinVar variants found in the DEFB135 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-11982335-C-A		not specified	Uncertain significance (Dec 16, 2022)
8-11982336-G-A		not specified	Uncertain significance (Oct 12, 2024)
8-11982344-G-T		not specified	Uncertain significance (Oct 24, 2024)
8-11982351-G-A		not specified	Uncertain significance (Dec 19, 2022)
8-11982352-T-C		not specified	Uncertain significance (Sep 11, 2024)
8-11982355-T-A		not specified	Uncertain significance (Mar 15, 2024)
8-11982357-C-T		not specified	Uncertain significance (Feb 28, 2024)
8-11982376-T-G		not specified	Uncertain significance (Apr 13, 2022)
8-11982378-C-A		not specified	Uncertain significance (Apr 04, 2023)
8-11982378-C-T		not specified	Uncertain significance (Sep 27, 2022)
8-11984421-G-A		not specified	Uncertain significance (Aug 15, 2023)
8-11984436-A-G		not specified	Uncertain significance (Oct 26, 2022)
8-11984489-C-T		not specified	Uncertain significance (Jul 14, 2023)
8-11984490-G-A		not specified	Uncertain significance (Aug 16, 2021)
8-11984519-C-T		not specified	Uncertain significance (Jun 27, 2023)
8-11984530-T-G		not specified	Uncertain significance (Oct 13, 2023)
8-11984538-T-C		not specified	Likely benign (Jan 03, 2022)
8-11984549-T-C		not specified	Uncertain significance (Jul 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB135	protein_coding	protein_coding	ENST00000382208	2	2270

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000156	0.0376	124760	0	27	124787	0.000108

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.26	65	42.1	1.55	0.00000239	484
Missense in Polyphen		15	8.0811	1.8562		88
Synonymous	-0.995	21	15.9	1.32	9.31e-7	151
Loss of Function	-4.54	6	1.03	5.82	4.39e-8	12

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000100	0.0000971
Middle Eastern	0.00	0.00
South Asian	0.000425	0.000425
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has antibacterial activity. {ECO:0000305}.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System;Beta defensins;Defensins (Consensus)

Intolerance Scores

• loftool: 0.594
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.11

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.385

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Defb30
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

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