FRAS1

Chr 4q21.21

Fraser extracellular matrix complex subunit 1

Aliases:: FLJ22031, FLJ14927, KIAA1500
MANE:: ENST00000512123.4

OMIM: 607830 ↗NCBI: 80144 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

FRAS1 · Q86XX4-5isoform

No predicted structure exists for the canonical Q86XX4 sequence; metrics below describe this isoform.

v62025-08-01

Predicted Aligned Error matrix for FRAS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.6/ 100

Confident

1,976 residues

Confidence breakdown

Very high(≥ 90)1%
Confident(70–90)60%
Low(50–70)30%
Very low(< 50)9%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Anophthalmia or microphthalmia
BIALLELIC, autosomal or pseudoautosomal
CAKUT
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Deafness and congenital structural abnormalities
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Fraser syndrome
0.81
renal agenesis
0.56
congenital anomaly of kidney and urinary tract
0.47
hereditary disease
0.42
renal agenesis, unilateral
0.37
Unilateral renal agenesis
0.37
polydactyly
0.37
orofacial cleft 1
0.35
nerve plexus disorder
0.31
placental retention
0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Extracellular matrix organizing protein FRAS1

Involved in extracellular matrix organization (By similarity). Required for the regulation of epidermal-basement membrane adhesion responsible for proper organogenesis during embryonic development (By similarity). Involved in brain organization and function (By similarity)