SUCO

protein-coding

SUN domain containing ossification factor

Gene summary

Predicted to be involved in positive regulation of collagen biosynthetic process; positive regulation of osteoblast differentiation; and regulation of bone remodeling. Predicted to be located in rough endoplasmic reticulum. Predicted to be active in cytoplasm and membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C1orf9

MANE transcript

NM_014283.5

Inheritance

AD, AR

ClinVar variants

U:345B:122

Top phenotype

SUCO-related disorder

gnomAD constraint

pLI —, LoF o/e 0.19

Max pathogenic AF

—

Genomic locus

chr1:172,532,349-172,611,833

External References & Databases

Ensembl (ENSG00000094975)

Transcript & Mutation Effects

hg38 • Region Span ~79.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

temporal lobe epilepsyLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0005115

Submitter: Ambry Genetics

osteogenesis imperfectaMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0019019

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SUCO variants in ClinVar

3 Conditions Cataloged

not providedTotal: 470

not specifiedTotal: 156

SUCO-related disorderTotal: 14

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014283.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	99 clinvar	6 clinvar	106
missense			331 clinvar	12 clinvar	4 clinvar	347
nonsense			4 clinvar			4
start loss						0
frameshift			6 clinvar			6
splice donor/acceptor (+/-2bp)			3 clinvar	1 clinvar		4
Total	0	0	345	112	10	467

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014283.5	RefSeq	NP_055098.1	24	MANE Select
ENST00000263688.4	Ensembl	ENSP00000263688.3	24	MANE Select
NM_001282750.2	RefSeq	NP_001269679.1	23	Standard
NM_001282751.2	RefSeq	NP_001269680.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

ossification
multicellular organism development
positive regulation of collagen biosynthetic process
protein folding in endoplasmic reticulum
positive regulation of osteoblast differentiation

Cellular Component

cytoplasm
rough endoplasmic reticulum
membrane
integral component of membrane
rough endoplasmic reticulum membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263688
Coding exons: 24
Length: 79483
Individuals with no LoFs: 125573
Homozygous LoFs: 1
Heterozygous LoFs: 169
Defined: 125743
p: 0.000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.08	555	631	0.879	0.0000311	8170
Missense (PolyPhen)		118	180.76	0.65279		2379
Synonymous	0.00276	222	222	1.00	0.0000112	2377
Loss of Function	6.04	12	64.2	0.187	0.00000329	860

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00012	rare
Latino/Admixed American	0.000066	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00024	0.00024	rare
South Asian	0.0046	0.0043	notable
Other	0.00068	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required for bone modeling during late embryogenesis. Regulates type I collagen synthesis in osteoblasts during their postnatal maturation (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.235

Intolerance Scores

RVIS EVS: -1.24
RVIS percentile EVS: 5.52

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): H

Gene Damage Prediction

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