FGL1

protein-coding

fibrinogen like 1, the group of Fibrinogen C domain containing

Gene summary

Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq, Jul 2008]

MANE transcript

NM_004467.4

Inheritance

—

ClinVar variants

U:82B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.6

Max pathogenic AF

—

Genomic locus

chr8:17,864,380-17,910,365

External References & Databases

Ensembl (ENSG00000104760)

Transcript & Mutation Effects

hg38 • Region Span ~46.0 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FGL1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 82

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004467.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar		1 clinvar	2
missense			81 clinvar	2 clinvar	3 clinvar	86
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	82	2	4	88

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 120 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004467.4	RefSeq	NP_004458.3	7	MANE Select
ENST00000427924.5	Ensembl	ENSP00000401952.1	7	MANE Select
NM_147203.2	RefSeq	NP_671736.2	7	Standard
NM_201552.1	RefSeq	NP_963846.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

fibrinogen complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000398056
Coding exons: 7
Length: 45986
Individuals with no LoFs: 124191
Homozygous LoFs: 25
Heterozygous LoFs: 1528
Defined: 125744
p: 0.00619

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.72	266	167	1.59	0.00000861	2082
Missense (PolyPhen)		102	62.473	1.6327		783
Synonymous	-4.54	104	59.4	1.75	0.00000324	524
Loss of Function	-2.43	31	19.4	1.60	9.27e-7	216

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0011	0.0010	notable
Latino/Admixed American	0.0065	0.0061	notable
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.013	0.012	notable
Finnish	0.039	0.038	notable
European (Non-Finnish)	0.0018	0.0017	notable
South Asian	0.0013	0.0012	notable
Other	0.0078	0.0075	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Has hepatocyte mitogenic activity.;

Intolerance Scores

LoFtool: 0.969
RVIS EVS: 1.29
RVIS percentile EVS: 93.88

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.000523

Gene Damage Prediction

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