FBRSL1

fibrosin like 1, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 12:132489551-132585188

Links

ENSG00000112787 ∙ NCBI:57666 ∙ OMIM:620123 ∙ HGNC:29308 ∙ Uniprot:Q9HCM7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• syndromic complex neurodevelopmental disorder (Moderate), mode of inheritance: AD
• complex neurodevelopmental disorder (Moderate), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FBRSL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBRSL1 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				7	1	8
missense			177	8		185
nonsense			1	1		2
start loss						0
frameshift						0
inframe indel			1		1	2
splice donor/acceptor (+/-2bp)			1			1
splice region				1		1
non coding				3		3
Total	0	0	180	19	2

Variants in FBRSL1

This is a list of pathogenic ClinVar variants found in the FBRSL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-132490616-G-A		not specified	Uncertain significance (Jan 09, 2024)
12-132490650-C-T		not specified	Uncertain significance (Sep 21, 2023)
12-132490653-G-A		not specified	Uncertain significance (Jun 07, 2024)
12-132490664-C-A		not specified	Uncertain significance (Dec 04, 2024)
12-132490664-C-T		not specified	Uncertain significance (Mar 20, 2023)
12-132490685-G-T		See cases	Likely benign (Jul 14, 2015)
12-132490689-C-T		not specified	Uncertain significance (Mar 01, 2023)
12-132490718-C-T		not specified	Uncertain significance (Jan 17, 2025)
12-132490728-C-A		not specified	Uncertain significance (Oct 26, 2021)
12-132490728-C-T		not specified	Uncertain significance (Mar 05, 2024)
12-132490731-C-A		not specified	Uncertain significance (Oct 06, 2024)
12-132490731-C-G		not specified	Uncertain significance (Jan 16, 2024)
12-132490739-G-A		not specified	Uncertain significance (Aug 05, 2024)
12-132490740-C-T		not specified	Uncertain significance (Mar 28, 2024)
12-132490742-G-A		not specified	Uncertain significance (Jun 22, 2023)
12-132490782-G-A		not specified	Uncertain significance (Aug 27, 2024)
12-132490836-G-C		not specified	Uncertain significance (Jul 30, 2024)
12-132508198-C-T		not specified	Uncertain significance (Nov 09, 2023)
12-132508211-A-G		not specified	Uncertain significance (Nov 26, 2024)
12-132508219-C-G		not specified	Uncertain significance (Dec 30, 2023)
12-132508235-G-GC			Uncertain significance (Jan 29, 2024)
12-132508238-C-T		not specified	Uncertain significance (Mar 04, 2024)
12-132508240-C-G		not specified	Uncertain significance (Jan 10, 2022)
12-132508240-C-T		not specified	Likely benign (Mar 20, 2023)
12-132508243-G-A		not specified	Uncertain significance (Oct 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBRSL1	protein_coding	protein_coding	ENST00000434748	17	95638

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00589	0.994	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.878	385	437	0.882	0.0000303	6480
Missense in Polyphen		142	186.08	0.76311		2290
Synonymous	-0.0414	212	211	1.00	0.0000170	2328
Loss of Function	3.27	9	27.5	0.327	0.00000126	402

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.457

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.200

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbrsl1

Gene ontology

• Molecular function: RNA binding