SETSIP

SET like protein

Basic information

Region (hg38): 1:92074533-92075411

Previous symbols: [ "SETP18" ]

Links

ENSG00000230667

∙ NCBI:646817 ∙ ∙ HGNC:42937 ∙ Uniprot:P0DME0 ∙ 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 SETSIP gene.

Intellectual disability, autosomal dominant 58 (1 variants)

Variants pathogenicity by type

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

Variants in SETSIP

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

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

Position	Type	Phenotype	Significance	ClinVar
1-92074764-C-T		Intellectual disability, autosomal dominant 58	Pathogenic (-)	1707481

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plays a role as a transcriptional activator involved in the early stage of somatic cell reprogramming. Promotes the differentiation of protein-induced pluripotent stem (PiPS) cells into endothelial cells and the formation of vascular-like tubes (in vitro). Involved in the transcription induction of vascular endothelial-cadherin (VE-cadherin) expression. Associates to the VE-cadherin gene promoter. {ECO:0000269|PubMed:22869753}.;

Gene ontology

Biological process: nucleosome assembly;endothelial cell differentiation;positive regulation of transcription by RNA polymerase II
Cellular component: nucleus;nucleoplasm;cytoplasm;lipid droplet
Molecular function: chromatin binding