SUPT20HL1

SUPT20H like 1

Basic information

Region (hg38): X:24360639-24367839

Previous symbols: [ "FAM48B1" ]

Links

ENSG00000223731 ∙ NCBI:100130302 ∙ ∙ HGNC:30773 ∙ Uniprot:Q3ZLR7 ∙ 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 SUPT20HL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SUPT20HL1 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				5		5
missense				1		1
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	1	6	0

Variants in SUPT20HL1

This is a list of pathogenic ClinVar variants found in the SUPT20HL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-24362838-G-A			Likely benign (May 01, 2022)
X-24363555-G-A			Likely benign (Oct 01, 2022)
X-24363781-T-C			Likely benign (Aug 01, 2022)
X-24364062-G-A			Likely benign (May 01, 2022)
X-24364256-TTGCTGC-T			Likely benign (-)
X-24364256-TTGCTGCTGCTGC-T			Uncertain significance (-)
X-24364256-TTGCTGCTGCTGCTGC-T			Uncertain significance (-)
X-24364274-C-T			Likely benign (Mar 01, 2025)
X-24364285-G-C			Likely benign (Apr 01, 2024)
X-24364422-A-G			Likely benign (Mar 01, 2022)
X-24364633-A-T			Likely benign (-)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter
• Cellular component: SAGA complex
• Molecular function: transcription coregulator activity