FOCAD

Chr 9AR

focadhesin

Also known as: KIAA1797, SCOLIV

NCBI Gene: 54914ENSG00000188352UniProt: Q5VW36

Predicted to be involved in regulation of post-transcriptional gene silencing. Located in cytosol and focal adhesion. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Liver disease, severe congenitalMIM #619991
AR
1199
ClinVar variants
17
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— FOCAD
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
17 Pathogenic / Likely Pathogenic· 61 VUS of 1199 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.88LOEUF
pLI 0.000
Z-score 2.59
OE 0.72 (0.59–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-2.93Z-score
OE missense 1.27 (1.21–1.33)
1182 obs / 930.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.72 (0.59–0.88)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.27 (1.21–1.33)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.18
0≤1.21.6
LoF obs/exp: 72 / 99.9Missense obs/exp: 1182 / 930.8Syn Z: -2.61

ClinVar Variant Classifications

1199 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
Likely Pathogenic3
VUS61
Likely Benign45
Benign75
14
Pathogenic
3
Likely Pathogenic
61
VUS
45
Likely Benign
75
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
2
10
0
14
Likely Pathogenic
0
0
3
0
3
VUS
1
47
12
1
61
Likely Benign
0
2
25
18
45
Benign
0
2
71
2
75
Total35312121198

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FOCAD · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
FOCADHESIN; FOCAD
MIM #614606 · *

Liver disease, severe congenital

MIM #619991

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
SKI complex loss renders 9p21.3-deleted or MSI-H cancers dependent on PELO.
Borck PC et al.·Nature
2025
German longevity study reveals novel rare pro-longevity alleles clustering in mTOR signaling pathway.
Kolbe D et al.·Geroscience
2025
FOCAD Indel in a Family With Juvenile Polyposis Syndrome.
MacFarland SP et al.·J Pediatr Gastroenterol Nutr
2022
FOCAD loss impacts microtubule assembly, G2/M progression and patient survival in astrocytic gliomas.
Brand F et al.·Acta Neuropathol
2020
Identification of the Novel Tumor Suppressor Role of FOCAD/miR-491-5p to Inhibit Cancer Stemness, Drug Resistance and Metastasis via Regulating RABIF/MMP Signaling in Triple Negative Breast Cancer.
Huang WC et al.·Cells
2021
Comprehensive characterization of ubiquitinome of human colorectal cancer and identification of potential survival-related ubiquitination.
Zhang W et al.·J Transl Med
2022
A novel smoking cessation behavior based on quit attempts may identify new genes associated with long-term abstinence.
Lori A et al.·Addict Behav
2025
Clinical utility and genomic insights from whole exome and clinical exome sequencing in idiopathic liver disease.
Bozkurt Kekilli S et al.·Hum Mol Genet
2026
Investigating the Transition of Pre-Symptomatic to Symptomatic Huntington's Disease Status Based on Omics Data.
Christodoulou CC et al.·Int J Mol Sci
2020
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
A novel homozygous splice-site variant in the FOCAD gene causing infantile liver cirrhosis and neutropenia: expanding disease phenotype and successful surgical treatment.
Nuzhnaya E et al.·Front Med (Lausanne)
2025🔓 Open Access
Tumor suppressor collateral damage screens reveal mRNA homeostasis protein HBS1L as a novel vulnerability in ch9p21 driven FOCAD deleted cancer.
Zhang H et al.·Biochim Biophys Acta Mol Cell Res
2026
FOCAD Gene Defect Resulting in Rapidly Progressing Neonatal Liver Cirrhosis Requiring Transplant.
Raja S et al.·Cureus
2025🔓 Open Access
A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications.
Tarrell A et al.·Case Rep Genet
2025🔓 Open Access
Targeting the Synthetic Lethal Relationship between FOCAD and TUT7 Represents a Potential Therapeutic Opportunity for TUT4/7 Small-Molecule Inhibitors in Cancer.
Triboulet R et al.·Mol Cancer Ther
2024
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools