FGL1

fibrinogen like 1, the group of Fibrinogen C domain containing

Basic information

Region (hg38): 8:17864380-17910365

Links

ENSG00000104760 ∙ NCBI:2267 ∙ OMIM:605776 ∙ HGNC:3695 ∙ Uniprot:Q08830 ∙ 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 FGL1 gene.

• not_specified (76 variants)
• not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004467.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			74	2	3	79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	74	2	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FGL1	protein_coding	protein_coding	ENST00000398056	7	45986

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.68e-25	0.00000333	124191	25	1528	125744	0.00619

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.72	266	167	1.59	0.00000861	2082
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00757	0.00756
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.0133	0.0125
Finnish	0.0389	0.0385
European (Non-Finnish)	0.00176	0.00172
Middle Eastern	0.0133	0.0125
South Asian	0.00129	0.00121
Other	0.00777	0.00752

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has hepatocyte mitogenic activity.

Intolerance Scores

• loftool: 0.969
• rvis_EVS: 1.29
• rvis_percentile_EVS: 93.88

Haploinsufficiency Scores

• pHI: 0.416
• hipred: N
• hipred_score: 0.300
• ghis: 0.434

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.000523

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fgl1
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype; liver/biliary system phenotype; skeleton phenotype

Gene ontology

• Cellular component: fibrinogen complex