SKIDA1

SKI/DACH domain containing 1

Basic information

Region (hg38): 10:21513475-21526368

Previous symbols: [ "C10orf140" ]

Links

ENSG00000180592 ∙ NCBI:387640 ∙ ∙ HGNC:32697 ∙ Uniprot:Q1XH10 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SKIDA1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SKIDA1 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				1		1
missense			91	3	1	95
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	91	4	2

Variants in SKIDA1

This is a list of pathogenic ClinVar variants found in the SKIDA1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-21515149-C-G		not specified	Uncertain significance (Jun 12, 2023)
10-21515198-A-C		not specified	Uncertain significance (Apr 08, 2022)
10-21515205-G-A		not specified	Uncertain significance (Oct 07, 2024)
10-21515209-T-C		not specified	Uncertain significance (Oct 05, 2023)
10-21515213-T-G		not specified	Uncertain significance (Jan 29, 2024)
10-21515308-C-G		not specified	Uncertain significance (Jun 24, 2022)
10-21515381-C-T		SKIDA1-related disorder	Likely benign (Feb 20, 2019)
10-21515457-C-T		not specified	Uncertain significance (Sep 08, 2024)
10-21515458-G-A		SKIDA1-related disorder	Uncertain significance (Sep 09, 2024)
10-21515500-C-A		not specified	Uncertain significance (Jan 22, 2025)
10-21515520-T-C		not specified	Uncertain significance (Jan 04, 2024)
10-21515526-G-A		not specified	Uncertain significance (May 26, 2022)
10-21515550-G-A		not specified	Uncertain significance (Jul 02, 2024)
10-21515556-C-A		not specified	Uncertain significance (Jan 08, 2024)
10-21515571-A-G		not specified	Uncertain significance (Dec 16, 2023)
10-21515574-G-C		not specified	Uncertain significance (Oct 11, 2024)
10-21515601-G-C		not specified	Uncertain significance (Apr 13, 2022)
10-21515628-G-A		not specified	Uncertain significance (Apr 25, 2022)
10-21515646-T-G		not specified	Uncertain significance (May 29, 2024)
10-21515743-C-A		not specified	Uncertain significance (Jan 28, 2025)
10-21515766-T-C		not specified	Uncertain significance (Feb 27, 2025)
10-21515791-T-C		not specified	Uncertain significance (Oct 02, 2023)
10-21515811-C-A		not specified	Benign (May 04, 2022)
10-21515832-G-T		not specified	Uncertain significance (Mar 10, 2025)
10-21515842-C-T		not specified	Uncertain significance (Apr 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SKIDA1	protein_coding	protein_coding	ENST00000449193	1	12205

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.992	0.00807	124635	0	3	124638	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.16	333	398	0.837	0.0000185	5864
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.891
• ghis: 0.509

Essentials

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

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Skida1
• Phenotype: homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; skeleton phenotype; immune system phenotype; limbs/digits/tail phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)