ROPN1B

rhophilin associated tail protein 1B

Basic information

Region (hg38): 3:125969160-125983454

Links

ENSG00000114547 ∙ NCBI:152015 ∙ ∙ HGNC:31927 ∙ Uniprot:Q9BZX4 ∙ 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 ROPN1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ROPN1B 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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in ROPN1B

This is a list of pathogenic ClinVar variants found in the ROPN1B region.

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

Position	Type	Phenotype	Significance	ClinVar
3-125972073-C-T		not specified	Uncertain significance (May 02, 2024)
3-125972089-C-A		not specified	Uncertain significance (Nov 07, 2023)
3-125972124-G-A		not specified	Uncertain significance (Nov 09, 2023)
3-125972128-C-T		not specified	Uncertain significance (Apr 07, 2023)
3-125972143-C-A		not specified	Uncertain significance (Apr 25, 2023)
3-125972160-T-C		not specified	Uncertain significance (Nov 07, 2023)
3-125972169-G-C		not specified	Uncertain significance (Dec 20, 2021)
3-125975592-C-T		not specified	Uncertain significance (Oct 25, 2023)
3-125975598-C-T		not specified	Uncertain significance (Jul 20, 2021)
3-125975608-G-C		not specified	Uncertain significance (Aug 29, 2022)
3-125975610-G-A		not specified	Likely benign (Jan 31, 2024)
3-125975636-T-C		not specified	Uncertain significance (Oct 20, 2024)
3-125977110-C-T		not specified	Uncertain significance (Oct 11, 2024)
3-125982277-C-T		not specified	Uncertain significance (Jan 03, 2024)
3-125982349-G-A		not specified	Uncertain significance (Feb 23, 2023)
3-125982376-T-C		not specified	Uncertain significance (Nov 26, 2024)
3-125982434-T-G		not specified	Uncertain significance (Nov 09, 2024)
3-125983256-T-C		not specified	Uncertain significance (Apr 15, 2024)
3-125983264-G-T		not specified	Uncertain significance (Nov 08, 2022)
3-125983295-A-C		not specified	Uncertain significance (Mar 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ROPN1B	protein_coding	protein_coding	ENST00000514116	5	14311

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000202	0.488	125681	0	67	125748	0.000266

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.479	129	115	1.13	0.00000611	1370
Missense in Polyphen		31	36.317	0.8536		514
Synonymous	0.666	43	48.9	0.879	0.00000281	420
Loss of Function	0.545	8	9.85	0.813	5.87e-7	112

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00248	0.00248
East Asian	0.000335	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000202	0.000202
Middle Eastern	0.000335	0.000326
South Asian	0.000303	0.000294
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Important for male fertility. With ROPN1L, involved in fibrous sheath integrity and sperm motility, plays a role in PKA- dependent signaling processes required for spermatozoa capacitation. {ECO:0000250|UniProtKB:Q9ESG2}.

Recessive Scores

• pRec: 0.0982

Intolerance Scores

• loftool: 0.839
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.64

Haploinsufficiency Scores

• pHI: 0.152
• hipred: N
• hipred_score: 0.172
• ghis: 0.423

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.184

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of protein phosphorylation;Rho protein signal transduction;spermatogenesis;acrosome reaction;fusion of sperm to egg plasma membrane involved in single fertilization;flagellated sperm motility;cilium organization;sperm capacitation;protein localization to cilium;cytoskeleton-dependent cytokinesis;cell-cell adhesion
• Cellular component: cytoplasm;motile cilium
• Molecular function: protein binding;receptor signaling complex scaffold activity;protein homodimerization activity;protein heterodimerization activity