FHOD1

formin homology 2 domain containing 1, the group of Formins|Armadillo like helical domain containing

Basic information

Region (hg38): 16:67229387-67247481

Links

ENSG00000135723 ∙ NCBI:29109 ∙ OMIM:606881 ∙ HGNC:17905 ∙ Uniprot:Q9Y613 ∙ 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 FHOD1 gene.

• not_specified (180 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FHOD1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013241.3. 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						0
missense			175	6		181
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	176	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FHOD1	protein_coding	protein_coding	ENST00000258201	22	18272

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.81e-16	0.921	125552	1	195	125748	0.000780

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.931	659	730	0.903	0.0000477	7390
Missense in Polyphen		287	342.71	0.83745		3500
Synonymous	1.28	273	301	0.906	0.0000182	2579
Loss of Function	2.27	33	50.4	0.655	0.00000260	567

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00106	0.00100
Ashkenazi Jewish	0.00	0.00
East Asian	0.000605	0.000598
Finnish	0.00148	0.00148
European (Non-Finnish)	0.000988	0.000967
Middle Eastern	0.000605	0.000598
South Asian	0.000327	0.000327
Other	0.000492	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for the assembly of F-actin structures, such as stress fibers. Depends on the Rho-ROCK cascade for its activity. Contributes to the coordination of microtubules with actin fibers and plays a role in cell elongation. Acts synergistically with ROCK1 to promote SRC-dependent non-apoptotic plasma membrane blebbing. {ECO:0000269|PubMed:14576350, ECO:0000269|PubMed:15878344, ECO:0000269|PubMed:18694941}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.918
• rvis_EVS: -1.21
• rvis_percentile_EVS: 5.71

Haploinsufficiency Scores

• pHI: 0.0719
• hipred: Y
• hipred_score: 0.663
• ghis: 0.486

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.878

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fhod1

Gene ontology

• Biological process: nuclear migration;positive regulation of transcription by RNA polymerase II;regulation of stress fiber assembly;positive regulation of stress fiber assembly;establishment of centrosome localization
• Cellular component: stress fiber;nucleus;cytoplasm;cytosol;intercalated disc;membrane;bleb
• Molecular function: actin binding;protein binding;protein domain specific binding;identical protein binding;protein self-association