ROPN1L

rhophilin associated tail protein 1 like, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 5:10441523-10472029

Links

ENSG00000145491 ∙ NCBI:83853 ∙ OMIM:611756 ∙ HGNC:24060 ∙ Uniprot:Q96C74 ∙ 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 ROPN1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ROPN1L 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in ROPN1L

This is a list of pathogenic ClinVar variants found in the ROPN1L region.

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

Position	Type	Phenotype	Significance	ClinVar
5-10442195-G-T		not specified	Uncertain significance (Jun 28, 2023)
5-10442219-G-A		not specified	Uncertain significance (Jul 17, 2023)
5-10442270-C-A		not specified	Uncertain significance (May 24, 2024)
5-10448271-C-A		not specified	Uncertain significance (Jan 25, 2023)
5-10448283-G-C		not specified	Uncertain significance (May 09, 2022)
5-10448288-C-G		not specified	Uncertain significance (Feb 27, 2024)
5-10448318-C-A		not specified	Uncertain significance (Nov 18, 2022)
5-10450015-C-A		not specified	Uncertain significance (Mar 14, 2023)
5-10450074-G-T		not specified	Uncertain significance (Oct 05, 2023)
5-10450091-T-A		not specified	Uncertain significance (Oct 05, 2023)
5-10450094-G-C		not specified	Uncertain significance (Jan 25, 2023)
5-10461197-C-T		not specified	Uncertain significance (Jun 02, 2024)
5-10461251-G-C		not specified	Uncertain significance (Jun 30, 2023)
5-10461277-G-T		not specified	Uncertain significance (Jan 29, 2024)
5-10461283-C-T		not specified	Uncertain significance (Oct 13, 2023)
5-10461287-A-G		not specified	Uncertain significance (May 20, 2024)
5-10464882-G-T		not specified	Uncertain significance (Jun 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ROPN1L	protein_coding	protein_coding	ENST00000503804	5	30506

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000275	0.324	125374	0	373	125747	0.00148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.164	132	137	0.961	0.00000785	1495
Missense in Polyphen		51	50.857	1.0028		574
Synonymous	0.479	56	60.7	0.922	0.00000417	443
Loss of Function	0.295	9	10.0	0.899	4.22e-7	125

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00346	0.00343
Ashkenazi Jewish	0.00258	0.00258
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.00204	0.00204
Middle Eastern	0.00	0.00
South Asian	0.000855	0.000850
Other	0.00163	0.00163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Important for male fertility. With ROPN1, involved in fibrous sheath integrity and sperm motility, plays a role in PKA- dependent signaling processes required for spermatozoa capacitation. {ECO:0000250|UniProtKB:Q9EQ00}.

Recessive Scores

• pRec: 0.0872

Intolerance Scores

• loftool: 0.797
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.46

Haploinsufficiency Scores

• pHI: 0.0868
• hipred: N
• hipred_score: 0.144
• ghis: 0.383

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.395

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ropn1l
• Phenotype: reproductive system phenotype; respiratory system phenotype; skeleton phenotype; cellular phenotype

Gene ontology

• Biological process: regulation of protein phosphorylation;epithelial cilium movement;flagellated sperm motility;sperm capacitation
• Cellular component: cytoplasm;cilium;motile cilium
• Molecular function: protein binding