SKIDA1

protein-coding

SKI/DACH domain containing 1

Gene summary

Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in regulation of transcription by RNA polymerase II. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C10orf140

MANE transcript

NM_207371.4

Inheritance

—

ClinVar variants

U:160B:11

Top phenotype

SKIDA1-related disorder

gnomAD constraint

pLI —, LoF o/e 0.05

Max pathogenic AF

—

Genomic locus

chr10:21,513,475-21,526,368

External References & Databases

Ensembl (ENSG00000180592)

Transcript & Mutation Effects

hg38 • Region Span ~12.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SKIDA1 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 162

SKIDA1-related disorderTotal: 8

not providedTotal: 5

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207371.4. 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				3 clinvar		3
missense			159 clinvar	6 clinvar	2 clinvar	167
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	160	9	2	171

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207371.4	RefSeq	NP_997254.3	1	MANE Select
ENST00000449193.7	Ensembl	ENSP00000410041.2	1	MANE Select
ENST00000444772.3	Ensembl	ENSP00000442432.1	2	Standard
XM_047425204.1	RefSeq	XP_047281160.1	1	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000449193
Coding exons: 1
Length: 12205
Individuals with no LoFs: 124635
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 124638
p: 0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.16	333	398	0.837	0.0000185	5864
Missense (PolyPhen)		21	58.266	0.36042		827
Synonymous	-0.614	178	168	1.06	0.00000818	1859
Loss of Function	3.81	1	18.8	0.0531	8.50e-7	296

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

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

Gene Damage Prediction

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