FOCAD

focadhesin, the group of Small nucleolar RNA protein coding host genes|Armadillo like helical domain containing|MicroRNA protein coding host genes

Basic information

Region (hg38): 9:20658309-20995955

Previous symbols: [ "KIAA1797" ]

Links

ENSG00000188352 ∙ NCBI:54914 ∙ OMIM:614606 ∙ HGNC:23377 ∙ Uniprot:Q5VW36 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• liver disease, severe congenital (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Liver disease, severe congenital	AR	Gastrointestinal	The condition can involve severe, early-onset hepatic disease, and awareness may allow prompt managment of liver disease and related sequelae	Gastrointestinal	35864190

ClinVar

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

• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOCAD 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			14	16	11	41
missense			218	20	18	256
nonsense		1	2			3
start loss						0
frameshift			2			2
inframe indel			1			1
splice donor/acceptor (+/-2bp)	1	2	2			5
splice region			5	5	2	12
non coding			2	22	83	107
Total	1	3	241	58	112

Variants in FOCAD

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

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

Position	Type	Phenotype	Significance	ClinVar
9-20715278-G-T			Benign (Jul 26, 2019)
9-20715313-T-C			Benign (Jun 14, 2019)
9-20715363-G-T			Uncertain significance (Dec 10, 2024)
9-20715373-A-T			Uncertain significance (Jan 07, 2024)
9-20715386-T-A			Uncertain significance (Apr 16, 2024)
9-20715402-C-A		FOCAD-related disorder • Inborn genetic diseases	Uncertain significance (Oct 13, 2024)
9-20715404-A-G			Uncertain significance (Jan 15, 2025)
9-20715408-C-G			Uncertain significance (May 02, 2024)
9-20717776-AT-A			Benign (Apr 12, 2024)
9-20717795-C-G		Inborn genetic diseases	Uncertain significance (May 22, 2024)
9-20717796-T-A			Uncertain significance (Jul 11, 2024)
9-20717797-G-C			Uncertain significance (Jun 17, 2024)
9-20717800-G-A			Uncertain significance (Sep 22, 2024)
9-20717816-C-T			Uncertain significance (Oct 08, 2024)
9-20717856-A-G			Likely benign (Jan 20, 2025)
9-20717858-C-A		Inborn genetic diseases	Uncertain significance (Oct 17, 2023)
9-20720318-GGT-G			Benign (Sep 05, 2019)
9-20720364-A-G			Likely benign (Mar 19, 2024)
9-20720368-G-A			Likely benign (Jan 29, 2024)
9-20720370-T-G		FOCAD-related disorder	Likely benign (Jun 20, 2019)
9-20720389-T-C		FOCAD-related disorder	Likely benign (Aug 07, 2024)
9-20720401-T-C			Uncertain significance (Mar 13, 2024)
9-20720423-A-G		Inborn genetic diseases	Uncertain significance (May 22, 2024)
9-20720435-G-A			Uncertain significance (Dec 11, 2024)
9-20720441-C-T		Inborn genetic diseases	Uncertain significance (Nov 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FOCAD	protein_coding	protein_coding	ENST00000380249	43	337647

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.21e-37	0.278	125577	0	171	125748	0.000680

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.93	1182	931	1.27	0.0000463	11679
Missense in Polyphen		292	254.84	1.1458		3271
Synonymous	-2.61	400	339	1.18	0.0000174	3536
Loss of Function	2.59	72	99.9	0.720	0.00000499	1202

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00146	0.00145
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000295	0.000272
Finnish	0.000278	0.000277
European (Non-Finnish)	0.000746	0.000721
Middle Eastern	0.000295	0.000272
South Asian	0.00119	0.00118
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potential tumor suppressor in gliomas. {ECO:0000250, ECO:0000269|PubMed:22427331}.

Recessive Scores

• pRec: 0.0800

Intolerance Scores

• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.26

Haploinsufficiency Scores

• pHI: 0.0701
• hipred: N
• hipred_score: 0.492
• ghis: 0.510

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Focad

Gene ontology

• Cellular component: focal adhesion;integral component of membrane
• Molecular function: protein binding