FILIP1L

filamin A interacting protein 1 like

Basic information

Region (hg38): 3:99828811-100114513

Links

ENSG00000168386 ∙ NCBI:11259 ∙ OMIM:612993 ∙ HGNC:24589 ∙ Uniprot:Q4L180 ∙ 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 FILIP1L gene.

• not_specified (173 variants)
• FILIP1L-related_disorder (17 variants)
• CMSS1-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FILIP1L gene is commonly pathogenic or not. These statistics are base on transcript: NM_001387850.1. 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				8	4	12
missense			168	5	1	174
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	168	13	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FILIP1L	protein_coding	protein_coding	ENST00000354552	5	284373

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.08e-9	0.999	124760	0	86	124846	0.000344

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.189	591	578	1.02	0.0000296	7522
Missense in Polyphen		159	167.18	0.95105		2289
Synonymous	1.27	190	214	0.889	0.0000111	2105
Loss of Function	3.00	22	43.3	0.508	0.00000239	575

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000959	0.000958
Ashkenazi Jewish	0.00	0.00
East Asian	0.000562	0.000556
Finnish	0.000186	0.000185
European (Non-Finnish)	0.000313	0.000300
Middle Eastern	0.000562	0.000556
South Asian	0.000374	0.000360
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a regulator of the antiangiogenic activity on endothelial cells. When overexpressed in endothelial cells, leads to inhibition of cell proliferation and migration and an increase in apoptosis. Inhibits melanoma growth When expressed in tumor- associated vasculature. {ECO:0000269|PubMed:18794120}.

Recessive Scores

• pRec: 0.0944

Intolerance Scores

• loftool: 0.901
• rvis_EVS: -1.19
• rvis_percentile_EVS: 5.87

Haploinsufficiency Scores

• pHI: 0.487
• hipred: N
• hipred_score: 0.492
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.267

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Filip1l

Gene ontology

• Biological process: biological_process
• Cellular component: nucleus;cytoplasm;membrane
• Molecular function: molecular_function