RFLNB

refilin B

Basic information

Region (hg38): 17:439978-445939

Previous symbols: [ "FAM101B" ]

Links

ENSG00000183688

∙ NCBI:359845 ∙ OMIM:615928 ∙ HGNC:28705 ∙ Uniprot:Q8N5W9 ∙ 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 RFLNB gene.

Variants pathogenicity by type

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

Variants in RFLNB

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

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

Position	Type	Phenotype	Significance	ClinVar
17-443303-A-G			Likely benign (Feb 01, 2023)	2647162
17-443384-T-C			Likely benign (Feb 01, 2023)	2647163

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RFLNB	protein_coding	protein_coding	ENST00000329099	2	5962

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.270	0.644	124567	0	2	124569	0.00000803

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.117	95	91.9	1.03	0.00000668	917
Missense in Polyphen		38	35.233	1.0785		430
Synonymous	-0.899	53	45.3	1.17	0.00000366	307
Loss of Function	1.28	1	3.63	0.275	1.55e-7	51

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000556	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in the formation of cartilaginous skeletal elements. {ECO:0000250|UniProtKB:Q5SVD0}.;

Recessive Scores

pRec: 0.100

Haploinsufficiency Scores

pHI: 0.261
hipred
hipred_score
ghis

Mouse Genome Informatics

Gene name: Rflnb
Phenotype: cellular phenotype; growth/size/body region phenotype; skeleton phenotype; limbs/digits/tail phenotype; normal phenotype;

Gene ontology

Biological process: epithelial to mesenchymal transition;skeletal system morphogenesis;negative regulation of chondrocyte development;actin filament bundle organization;negative regulation of bone mineralization involved in bone maturation
Cellular component: cytoplasm;actin filament bundle
Molecular function: filamin binding