FHAD1

forkhead associated phosphopeptide binding domain 1

Basic information

Region (hg38): 1:15236521-15400283

Links

ENSG00000142621 ∙ NCBI:114827 ∙ ∙ HGNC:29408 ∙ Uniprot:B1AJZ9 ∙ 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 FHAD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FHAD1 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			3	2		5
missense			83	7		90
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	86	9	0

Variants in FHAD1

This is a list of pathogenic ClinVar variants found in the FHAD1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-15251804-G-C		not specified	Uncertain significance (Feb 06, 2023)
1-15251811-A-C		not specified	Uncertain significance (May 08, 2024)
1-15251840-C-G		not specified	Uncertain significance (Jun 06, 2023)
1-15251852-A-T		not specified	Uncertain significance (Dec 21, 2023)
1-15251876-A-G		not specified	Uncertain significance (Aug 16, 2022)
1-15272335-G-A		not specified	Uncertain significance (May 15, 2024)
1-15272405-G-T		not specified	Uncertain significance (Feb 28, 2023)
1-15272410-G-A		not specified	Uncertain significance (Jan 24, 2024)
1-15289462-C-G		not specified	Uncertain significance (Feb 03, 2022)
1-15289481-C-A		not specified	Uncertain significance (Aug 09, 2021)
1-15289526-C-T		not specified	Uncertain significance (Oct 03, 2022)
1-15289577-C-T		not specified	Uncertain significance (Jun 16, 2024)
1-15289592-G-A		not specified	Uncertain significance (May 25, 2022)
1-15289642-C-T		not specified	Uncertain significance (Jan 26, 2023)
1-15296723-C-G		not specified	Uncertain significance (Sep 22, 2023)
1-15296725-G-A		not specified	Uncertain significance (Aug 08, 2023)
1-15296786-A-C		not specified	Uncertain significance (Nov 17, 2022)
1-15301241-C-T		not specified	Uncertain significance (Aug 15, 2023)
1-15301253-T-C		not specified	Uncertain significance (Sep 17, 2021)
1-15301307-G-A		not specified	Uncertain significance (Nov 21, 2022)
1-15301328-G-A		not specified	Uncertain significance (Oct 06, 2021)
1-15301374-A-T		not specified	Uncertain significance (Mar 17, 2023)
1-15308656-C-T		not specified	Uncertain significance (Oct 03, 2022)
1-15308668-G-A		not specified	Uncertain significance (Dec 01, 2022)
1-15308699-G-C		not specified	Uncertain significance (Oct 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FHAD1	protein_coding	protein_coding	ENST00000375995	6	153012

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000137	0.660	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.996	97	129	0.753	0.00000720	1642
Missense in Polyphen		22	34.653	0.63487		471
Synonymous	1.54	43	58.0	0.742	0.00000365	462
Loss of Function	0.813	7	9.74	0.719	4.10e-7	140

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.152

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0584

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fhad1