FSBP

fibrinogen silencer binding protein

Basic information

Region (hg38): 8:94378376-94436952

Links

ENSG00000265817 ∙ NCBI:100861412 ∙ OMIM:616306 ∙ HGNC:43653 ∙ Uniprot:O95073 ∙ 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 FSBP gene.

• Inborn genetic diseases (24 variants)
• not provided (19 variants)
• Carcinoma of colon (1 variants)
• Non-Hodgkin lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSBP 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)					1	1
splice region						0
non coding	1	1	22	2	17	43
Total	1	1	22	2	18

Highest pathogenic variant AF is 0.00000658

Variants in FSBP

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

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

Position	Type	Phenotype	Significance	ClinVar
8-94378592-G-A		not specified	Uncertain significance (Nov 18, 2022)
8-94378628-A-G		not specified	Uncertain significance (Aug 26, 2022)
8-94378693-C-T			Benign (Nov 12, 2018)
8-94379827-C-T			Benign (Nov 12, 2018)
8-94380204-T-A		not specified	Uncertain significance (Sep 20, 2023)
8-94380213-G-A		not specified	Uncertain significance (Jul 25, 2023)
8-94380251-A-C		not specified	Uncertain significance (Mar 02, 2023)
8-94380284-A-G		not specified	Uncertain significance (Dec 12, 2023)
8-94380306-T-C		not specified	Likely benign (Jan 26, 2022)
8-94380344-T-C		not specified	Uncertain significance (Feb 14, 2024)
8-94380347-C-T		not specified	Uncertain significance (Jan 08, 2024)
8-94380348-G-A		not specified	Uncertain significance (Dec 12, 2023)
8-94386817-C-T			Benign (Nov 12, 2018)
8-94387003-C-T		not specified	Uncertain significance (Jun 30, 2023)
8-94387014-G-A		not specified	Uncertain significance (Mar 29, 2022)
8-94387017-A-G		not specified	Uncertain significance (Jan 24, 2024)
8-94387039-G-C		not specified	Uncertain significance (Jul 06, 2021)
8-94387124-T-A		not specified	Uncertain significance (Dec 28, 2023)
8-94387323-A-T			Benign (Nov 12, 2018)
8-94387390-C-T			Benign (Nov 12, 2018)
8-94391640-T-C		Non-Hodgkin lymphoma	Benign (Dec 31, 2019)
8-94391710-A-T		not specified	Uncertain significance (Apr 25, 2023)
8-94391872-C-T			Benign (Sep 01, 2022)
8-94392147-A-C			Benign (Jun 20, 2021)
8-94393847-CA-C			Likely pathogenic (Jan 01, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FSBP	protein_coding	protein_coding	ENST00000481490	2	58576

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000707	0.769	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.57	93	146	0.636	0.00000708	1964
Missense in Polyphen		34	61.813	0.55004		836
Synonymous	2.48	31	54.2	0.572	0.00000260	563
Loss of Function	1.01	6	9.31	0.644	3.89e-7	143

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

• Function: FUNCTION: Transcriptional repressor that down-regulates the expression of the fibrinogen gamma chain. Represses transcription of GSK3B gene promoter via its interaction with APBA1. {ECO:0000269|PubMed:20531236}.

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fsbp

Gene ontology

• Cellular component: nucleus
• Molecular function: protein binding;identical protein binding