STRBP

spermatid perinuclear RNA binding protein

Basic information

Region (hg38): 9:123109500-123268586

Previous symbols: [ "ILF3L" ]

Links

ENSG00000165209 ∙ ∙ OMIM:611138 ∙ HGNC:16462 ∙ Uniprot:Q96SI9 ∙ 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 STRBP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STRBP 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			25			25
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	0	0

Variants in STRBP

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

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

Position	Type	Phenotype	Significance	ClinVar
9-123125667-G-T		not specified	Uncertain significance (Feb 05, 2024)
9-123132869-C-G		not specified	Uncertain significance (Feb 27, 2024)
9-123132919-C-T		not specified	Uncertain significance (Dec 28, 2023)
9-123136065-AT-A			Uncertain significance (Nov 01, 2024)
9-123136495-G-C		not specified	Uncertain significance (Nov 14, 2023)
9-123139533-A-G		not specified	Uncertain significance (Oct 20, 2023)
9-123139551-G-A		not specified	Uncertain significance (Dec 17, 2024)
9-123146866-C-T		not specified	Uncertain significance (Aug 16, 2021)
9-123146977-G-A		not specified	Uncertain significance (Nov 08, 2022)
9-123147801-T-C		not specified	Uncertain significance (Jan 19, 2025)
9-123158086-T-C		not specified	Uncertain significance (Apr 26, 2023)
9-123158349-T-C		not specified	Uncertain significance (Apr 12, 2023)
9-123159156-C-T		not specified	Uncertain significance (May 28, 2024)
9-123160396-C-T		not specified	Uncertain significance (Feb 05, 2024)
9-123160423-G-A		not specified	Uncertain significance (Sep 27, 2024)
9-123160987-T-C		not specified	Uncertain significance (Dec 17, 2023)
9-123160996-C-T		not specified	Uncertain significance (Mar 18, 2024)
9-123161047-G-A		not specified	Uncertain significance (Jun 21, 2023)
9-123161059-G-A		not specified	Uncertain significance (Aug 10, 2021)
9-123161065-T-G		not specified	Uncertain significance (Dec 17, 2023)
9-123169908-C-T		not specified	Uncertain significance (Mar 16, 2022)
9-123169923-C-G		not specified	Uncertain significance (Jun 11, 2024)
9-123169932-T-C		not specified	Uncertain significance (Sep 26, 2023)
9-123169950-T-C		not specified	Uncertain significance (Apr 23, 2024)
9-123179076-G-A		not specified	Uncertain significance (Jul 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STRBP	protein_coding	protein_coding	ENST00000447404	17	159077

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000417	125725	0	7	125732	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.48	176	362	0.486	0.0000183	4367
Missense in Polyphen		49	149.61	0.32752		1824
Synonymous	1.33	113	132	0.853	0.00000713	1310
Loss of Function	5.06	3	35.6	0.0843	0.00000190	460

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000130	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000350	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in spermatogenesis and sperm function. Plays a role in regulation of cell growth. Binds to double-stranded DNA and RNA. Binds most efficiently to poly(I:C) RNA than to poly(dI:dC) DNA. Binds also to single-stranded poly(G) RNA. Binds non-specifically to the mRNA PRM1 3'-UTR and adenovirus VA RNA (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.289
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.19

Haploinsufficiency Scores

• pHI: 0.938
• hipred: Y
• hipred_score: 0.717
• ghis: 0.619

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.967

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Strbp
• Phenotype: growth/size/body region phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); endocrine/exocrine gland phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype

Gene ontology

• Biological process: multicellular organism development;spermatid development;mechanosensory behavior
• Cellular component: manchette;nucleus;cytoplasm
• Molecular function: DNA binding;RNA binding;double-stranded RNA binding;single-stranded RNA binding;protein binding;microtubule binding