LRRC61

leucine rich repeat containing 61

Basic information

Region (hg38): 7:150323262-150338156

Links

ENSG00000127399 ∙ NCBI:65999 ∙ ∙ HGNC:21704 ∙ Uniprot:Q9BV99 ∙ 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 LRRC61 gene.

• Inborn genetic diseases (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LRRC61 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			4			4
Total	0	0	18	0	0

Variants in LRRC61

This is a list of pathogenic ClinVar variants found in the LRRC61 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-150330541-T-G		not specified	Uncertain significance (Sep 14, 2021)
7-150330735-A-G		not specified	Uncertain significance (Mar 07, 2024)
7-150330795-G-A		not specified	Uncertain significance (Aug 28, 2023)
7-150330819-A-C		not specified	Uncertain significance (Oct 03, 2022)
7-150330846-G-T		not specified	Uncertain significance (Jan 21, 2022)
7-150330880-C-A		not specified	Uncertain significance (Mar 11, 2024)
7-150330921-A-G		not specified	Likely benign (Dec 15, 2023)
7-150337051-G-A		not specified	Uncertain significance (Nov 20, 2023)
7-150337085-G-A		not specified	Uncertain significance (Aug 13, 2021)
7-150337096-G-A		not specified	Uncertain significance (Jul 11, 2023)
7-150337124-C-T		not specified	Uncertain significance (Jan 26, 2022)
7-150337148-G-A		not specified	Uncertain significance (Feb 23, 2023)
7-150337169-A-G		not specified	Uncertain significance (Oct 26, 2021)
7-150337244-G-A		not specified	Uncertain significance (Sep 21, 2023)
7-150337262-C-T		not specified	Uncertain significance (Dec 06, 2021)
7-150337303-G-A		not specified	Uncertain significance (Jan 10, 2023)
7-150337406-C-T		not specified	Uncertain significance (Jan 26, 2023)
7-150337409-T-C		not specified	Uncertain significance (Dec 27, 2022)
7-150337412-G-A		not specified	Uncertain significance (Nov 17, 2022)
7-150337493-G-A		not specified	Uncertain significance (Feb 09, 2023)
7-150337498-A-G		not specified	Uncertain significance (Nov 14, 2023)
7-150337538-C-T		not specified	Uncertain significance (Sep 27, 2022)
7-150337592-C-T		not specified	Uncertain significance (Jul 15, 2021)
7-150337603-C-G		not specified	Uncertain significance (Nov 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LRRC61	protein_coding	protein_coding	ENST00000359623	1	15512

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00181	0.735	125644	0	88	125732	0.000350

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.243	152	161	0.946	0.0000107	1603
Missense in Polyphen		46	53.298	0.86307		575
Synonymous	-0.861	84	74.5	1.13	0.00000469	591
Loss of Function	0.859	5	7.55	0.663	4.95e-7	67

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000835	0.000832
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000252	0.000185
European (Non-Finnish)	0.000442	0.000440
Middle Eastern	0.00	0.00
South Asian	0.000294	0.000294
Other	0.000493	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0974

Intolerance Scores

• loftool: 0.906
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.9

Haploinsufficiency Scores

• pHI: 0.185
• hipred: N
• hipred_score: 0.231
• ghis: 0.399

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.460

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Lrrc61

Gene ontology

• Biological process: outer dynein arm assembly
• Cellular component: cytoplasm