FYB2

FYN binding protein 2

Basic information

Region (hg38): 1:56718788-56819696

Previous symbols: [ "C1orf168" ]

Links

ENSG00000187889 ∙ NCBI:199920 ∙ OMIM:618478 ∙ HGNC:27295 ∙ Uniprot:Q5VWT5 ∙ 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 FYB2 gene.

• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FYB2 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						0
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	1	0

Variants in FYB2

This is a list of pathogenic ClinVar variants found in the FYB2 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-56740711-C-T			Likely benign (Apr 01, 2022)
1-56744234-C-A			not provided (-)
1-56787195-C-G		not specified	Uncertain significance (Sep 01, 2021)
1-56789056-G-A		not specified	Uncertain significance (Sep 01, 2021)
1-56792278-G-A		not specified	Uncertain significance (Nov 09, 2021)
1-56792629-G-A		not specified	Uncertain significance (Aug 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FYB2	protein_coding	protein_coding	ENST00000343433	20	100893

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.30e-41	3.79e-9	125473	0	275	125748	0.00109

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.329	379	361	1.05	0.0000171	4792
Missense in Polyphen		82	84.05	0.97561		1243
Synonymous	0.192	127	130	0.979	0.00000670	1318
Loss of Function	-2.09	54	39.8	1.36	0.00000185	540

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000317	0.000305
Ashkenazi Jewish	0.00649	0.00617
East Asian	0.00648	0.00616
Finnish	0.000330	0.000323
European (Non-Finnish)	0.000637	0.000615
Middle Eastern	0.00648	0.00616
South Asian	0.000392	0.000359
Other	0.00104	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Adapter protein that plays a role in T-cell receptor (TCR)-mediated activation of signaling pathways. Required for T- cell activation and integrin-mediated T-cell adhesion in response to TCR stimulation (PubMed:27335501). {ECO:0000269|PubMed:27335501}.

Recessive Scores

• pRec: 0.0724

Intolerance Scores

• rvis_EVS: 0.82
• rvis_percentile_EVS: 88.07

Haploinsufficiency Scores

• pHI: 0.0503
• hipred: N
• hipred_score: 0.123
• ghis: 0.383

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fyb2

Gene ontology

• Biological process: integrin-mediated signaling pathway;cell adhesion mediated by integrin;T cell receptor signaling pathway;protein localization to plasma membrane
• Cellular component: immunological synapse;plasma membrane;membrane raft
• Molecular function: protein binding