DEFB136

defensin beta 136, the group of Defensins, beta

Basic information

Region (hg38): 8:11973937-11974599

Links

ENSG00000205884 ∙ NCBI:613210 ∙ ∙ HGNC:34433 ∙ Uniprot:Q30KP8 ∙ 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 DEFB136 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB136 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 DEFB136

This is a list of pathogenic ClinVar variants found in the DEFB136 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-11973941-T-A		not specified	Uncertain significance (Aug 29, 2024)
8-11973953-T-A		not specified	Uncertain significance (Jul 12, 2023)
8-11973963-G-C		not specified	Uncertain significance (Oct 25, 2024)
8-11973965-G-C		not specified	Uncertain significance (Nov 25, 2024)
8-11973968-G-C		not specified	Uncertain significance (Feb 08, 2023)
8-11973977-C-T		not specified	Uncertain significance (Jan 03, 2024)
8-11973983-A-C		not specified	Uncertain significance (Sep 08, 2023)
8-11974047-C-T		not specified	Uncertain significance (Oct 03, 2024)
8-11974079-G-T		not specified	Uncertain significance (Jul 07, 2024)
8-11974575-G-C		not specified	Uncertain significance (May 29, 2024)
8-11974581-C-G		not specified	Uncertain significance (Aug 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB136	protein_coding	protein_coding	ENST00000382209	2	663

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0925	0.586	124770	0	1	124771	0.00000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.380	50	43.0	1.16	0.00000256	506
Missense in Polyphen		10	10.934	0.91462		104
Synonymous	-1.85	26	16.4	1.58	0.00000104	142
Loss of Function	0.0199	1	1.02	0.979	4.35e-8	12

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)	0.00	0.00
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:0000305}.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System;Beta defensins;Defensins (Consensus)

Intolerance Scores

• loftool: 0.539
• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.68

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.432

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Defb42

Gene ontology

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