SKOR1

SKI family transcriptional corepressor 1, the group of SKI transcriptional corepressors

Basic information

Region (hg38): 15:67819703-67834582

Previous symbols: [ "LBXCOR1" ]

Links

ENSG00000188779 ∙ NCBI:390598 ∙ OMIM:611273 ∙ HGNC:21326 ∙ Uniprot:P84550 ∙ 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 SKOR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SKOR1 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				2		2
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	2	0

Variants in SKOR1

This is a list of pathogenic ClinVar variants found in the SKOR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-67827361-G-A			Likely benign (Nov 01, 2022)
15-67827895-A-T			Likely benign (Nov 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SKOR1	protein_coding	protein_coding	ENST00000341418	15	14858

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.90e-9	0.999	125742	0	6	125748	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.18	344	478	0.719	0.0000224	5539
Missense in Polyphen		47	93.499	0.50268		975
Synonymous	0.158	200	203	0.986	0.0000102	1780
Loss of Function	2.87	20	39.5	0.506	0.00000177	449

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000291	0.0000291
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.000109	0.000109
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a transcriptional corepressor of LBX1 (By similarity). Inhibits BMP signaling. {ECO:0000250}.

Recessive Scores

• pRec: 0.113

Haploinsufficiency Scores

• pHI: 0.0831

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Skor1

Gene ontology

• Biological process: regulation of transcription, DNA-templated;negative regulation of transforming growth factor beta receptor signaling pathway;negative regulation of BMP signaling pathway;negative regulation of cell differentiation;negative regulation of transcription, DNA-templated;neuron development
• Cellular component: nucleus;transcription factor complex;dendrite;neuronal cell body
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;transcription corepressor activity;SMAD binding