FIBCD1

fibrinogen C domain containing 1, the group of Fibrinogen C domain containing

Basic information

Region (hg38): 9:130902438-130939286

Links

ENSG00000130720 ∙ NCBI:84929 ∙ OMIM:613357 ∙ HGNC:25922 ∙ Uniprot:Q8N539 ∙ 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 FIBCD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FIBCD1 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				2		2
missense			50	2		52
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding					2	2
Total	0	0	50	4	2

Variants in FIBCD1

This is a list of pathogenic ClinVar variants found in the FIBCD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-130904061-A-G			Benign (Aug 04, 2020)
9-130904069-G-A		not specified	Uncertain significance (Jun 26, 2024)
9-130904080-A-C		not specified	Uncertain significance (Dec 07, 2021)
9-130904149-C-T		not specified	Uncertain significance (Sep 20, 2024)
9-130904153-C-T		not specified	Uncertain significance (Oct 06, 2021)
9-130904176-C-T		not specified	Uncertain significance (Oct 07, 2022)
9-130904231-C-T		not specified	Uncertain significance (Oct 12, 2022)
9-130904275-C-T		not specified	Uncertain significance (Sep 20, 2024)
9-130904300-C-T		not specified	Uncertain significance (Jul 26, 2022)
9-130904321-C-G		not specified	Uncertain significance (Aug 08, 2023)
9-130904321-C-T		not specified	Uncertain significance (May 08, 2023)
9-130904343-G-A			Benign (Aug 04, 2020)
9-130905255-C-T		not specified	Uncertain significance (Jul 20, 2021)
9-130905258-C-T		not specified	Uncertain significance (Jul 05, 2022)
9-130905288-C-G		not specified	Uncertain significance (Nov 18, 2022)
9-130905309-C-T		not specified	Uncertain significance (Dec 19, 2022)
9-130905323-C-T		not specified	Likely benign (Jun 21, 2021)
9-130905335-G-A		not specified	Uncertain significance (Aug 28, 2024)
9-130911810-T-C		not specified	Uncertain significance (Mar 16, 2024)
9-130911850-G-C		not specified	Uncertain significance (Jan 08, 2024)
9-130911867-C-T		not specified	Uncertain significance (Nov 25, 2024)
9-130911869-T-C		not specified	Uncertain significance (Jan 24, 2024)
9-130911870-C-T		not specified	Uncertain significance (Mar 02, 2023)
9-130911875-C-T		not specified	Uncertain significance (Dec 16, 2022)
9-130923757-C-T		not specified	Uncertain significance (Apr 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FIBCD1	protein_coding	protein_coding	ENST00000372338	7	36849

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.94e-14	0.00810	125533	1	125	125659	0.000501

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.382	294	313	0.939	0.0000235	2924
Missense in Polyphen		99	110.42	0.8966		994
Synonymous	-0.377	154	148	1.04	0.0000123	969
Loss of Function	-0.393	20	18.2	1.10	0.00000103	180

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00176	0.00172
Ashkenazi Jewish	0.00	0.00
East Asian	0.000170	0.000163
Finnish	0.000287	0.000277
European (Non-Finnish)	0.000396	0.000379
Middle Eastern	0.000170	0.000163
South Asian	0.000866	0.000784
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acetyl group-binding receptor which shows a high- affinity and calcium-dependent binding to acetylated structures such as chitin, some N-acetylated carbohydrates, and amino acids, but not to their non-acetylated counterparts. Can facilitate the endocytosis of acetylated components. {ECO:0000269|PubMed:19710473, ECO:0000269|PubMed:19892701}.

Recessive Scores

• pRec: 0.107

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.275
• ghis: 0.515

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.999

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fibcd1

Gene ontology

• Cellular component: membrane;integral component of membrane
• Molecular function: protein binding;chitin binding;metal ion binding