LRRC75B

leucine rich repeat containing 75B

Basic information

Region (hg38): 22:24585620-24593208

Previous symbols: [ "C22orf36", "FAM211B" ]

Links

ENSG00000178026 ∙ NCBI:388886 ∙ ∙ HGNC:33155 ∙ Uniprot:Q2VPJ9 ∙ 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 LRRC75B gene.

• not_specified (62 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LRRC75B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207644.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			57	4		61
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LRRC75B	protein_coding	protein_coding	ENST00000318753	4	7588

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.02e-13	0.00294	124795	0	105	124900	0.000420

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.360	136	148	0.917	0.00000949	1926
Missense in Polyphen		38	47.464	0.80061		712
Synonymous	-0.764	81	72.7	1.11	0.00000452	733
Loss of Function	-1.80	15	9.12	1.64	5.64e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00159	0.00156
Ashkenazi Jewish	0.00	0.00
East Asian	0.00140	0.00139
Finnish	0.00	0.00
European (Non-Finnish)	0.000376	0.000371
Middle Eastern	0.00140	0.00139
South Asian	0.000296	0.000294
Other	0.000504	0.000493

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0962

Intolerance Scores

• rvis_EVS: 1.58
• rvis_percentile_EVS: 95.75

Haploinsufficiency Scores

• pHI: 0.0841
• hipred: N
• hipred_score: 0.216
• ghis: 0.513

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Lrrc75b

Gene ontology

• Cellular component: cytoplasm