RSBN1L

round spermatid basic protein 1 like

Basic information

Region (hg38): 7:77696459-77783022

Links

ENSG00000187257 ∙ NCBI:222194 ∙ ∙ HGNC:24765 ∙ Uniprot:Q6PCB5 ∙ 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 RSBN1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RSBN1L 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				1		1
missense			46	1		47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	46	2	0

Variants in RSBN1L

This is a list of pathogenic ClinVar variants found in the RSBN1L region.

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

Position	Type	Phenotype	Significance	ClinVar
7-77696479-C-T		not specified	Uncertain significance (Apr 25, 2024)
7-77696483-C-G		not specified	Uncertain significance (Dec 04, 2021)
7-77696495-A-T		not specified	Uncertain significance (Jan 25, 2023)
7-77696512-G-T		not specified	Uncertain significance (Jun 19, 2024)
7-77696519-C-A		not specified	Uncertain significance (May 18, 2022)
7-77696519-C-T		not specified	Uncertain significance (Jan 04, 2024)
7-77696521-G-A		not specified	Uncertain significance (Mar 14, 2023)
7-77696559-A-G		not specified	Likely benign (Oct 30, 2023)
7-77696581-G-C		not specified	Uncertain significance (Feb 23, 2023)
7-77696585-C-G		not specified	Uncertain significance (Aug 02, 2021)
7-77696591-C-T		not specified	Uncertain significance (Jun 17, 2024)
7-77696659-G-A		not specified	Uncertain significance (Apr 25, 2022)
7-77696669-G-C		not specified	Uncertain significance (Aug 19, 2023)
7-77696678-A-G		not specified	Uncertain significance (Feb 28, 2023)
7-77696794-G-T		not specified	Uncertain significance (Aug 17, 2022)
7-77696798-C-T		not specified	Uncertain significance (Sep 14, 2021)
7-77696864-C-T		not specified	Uncertain significance (Aug 03, 2022)
7-77696894-T-A		not specified	Uncertain significance (Aug 22, 2023)
7-77696918-C-T		not specified	Uncertain significance (Oct 13, 2023)
7-77696989-G-A		not specified	Uncertain significance (Nov 17, 2022)
7-77697020-G-A		not specified	Uncertain significance (Mar 28, 2024)
7-77697022-G-C		not specified	Uncertain significance (Oct 06, 2022)
7-77736418-A-G		not specified	Uncertain significance (Mar 07, 2023)
7-77749504-G-C		not specified	Uncertain significance (Oct 29, 2021)
7-77749517-G-A		not specified	Uncertain significance (Apr 22, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RSBN1L	protein_coding	protein_coding	ENST00000334955	8	86580

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.795	0.205	124782	0	13	124795	0.0000521

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.915	395	450	0.879	0.0000218	5563
Missense in Polyphen		60	153.8	0.39012		1862
Synonymous	-1.77	203	173	1.17	0.00000855	1639
Loss of Function	4.22	6	31.6	0.190	0.00000177	417

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000194	0.000194
Ashkenazi Jewish	0.000120	0.0000993
East Asian	0.0000617	0.0000556
Finnish	0.0000931	0.0000928
European (Non-Finnish)	0.0000360	0.0000353
Middle Eastern	0.0000617	0.0000556
South Asian	0.0000654	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.133
• rvis_EVS: -0.82
• rvis_percentile_EVS: 11.88

Haploinsufficiency Scores

• pHI: 0.195
• hipred: N
• hipred_score: 0.488
• ghis: 0.589

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.786

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rsbn1l

Gene ontology

• Cellular component: nucleus