FILIP1

filamin A interacting protein 1

Basic information

Region (hg38): 6:75291859-75493800

Links

ENSG00000118407 ∙ NCBI:27145 ∙ OMIM:607307 ∙ HGNC:21015 ∙ Uniprot:Q7Z7B0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neuromuscular disorder, congenital, with dysmorphic facies (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Neuromuscular disorder, congenital, with dysmorphic facies	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Musculoskeletal; Neurologic	36943452; 37163662

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FILIP1 gene.

• not_specified (139 variants)
• not_provided (11 variants)
• Neuromuscular_disorder,_congenital,_with_dysmorphic_facies (5 variants)
• Abnormality_of_neuronal_migration (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FILIP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015687.5. 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				2	2	4
missense	1		135	8	3	147
nonsense	3	1				4
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	4	1	135	10	5

Highest pathogenic variant AF is 0.0000148703

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FILIP1	protein_coding	protein_coding	ENST00000237172	5	201880

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.57e-10	1.00	125652	0	95	125747	0.000378

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.04	558	632	0.883	0.0000346	7950
Missense in Polyphen		190	219.01	0.86753		2726
Synonymous	-0.0100	242	242	1.00	0.0000140	2344
Loss of Function	3.24	24	48.3	0.497	0.00000324	597

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000489	0.000489
Ashkenazi Jewish	0.00189	0.00189
East Asian	0.000381	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000416	0.000404
Middle Eastern	0.000381	0.000381
South Asian	0.000368	0.000359
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A. {ECO:0000250|UniProtKB:Q8K4T4}.

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.852
• rvis_EVS: -0.46
• rvis_percentile_EVS: 23.69

Haploinsufficiency Scores

• pHI: 0.475
• hipred: Y
• hipred_score: 0.540
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.752

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Filip1

Gene ontology

• Cellular component: nucleolus;cytoplasm;plasma membrane;actin cytoskeleton