UBTFL1

upstream binding transcription factor like 1

Basic information

Region (hg38): 11:90085950-90087131

Previous symbols: [ "C11orf27" ]

Links

ENSG00000255009 ∙ NCBI:642623 ∙ OMIM:613696 ∙ HGNC:14533 ∙ Uniprot:P0CB47 ∙ 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 UBTFL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBTFL1 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						0
missense			21	3		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	3	0

Variants in UBTFL1

This is a list of pathogenic ClinVar variants found in the UBTFL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-90086052-A-G		not specified	Uncertain significance (May 22, 2023)
11-90086094-A-C		not specified	Uncertain significance (May 30, 2024)
11-90086136-A-T		not specified	Uncertain significance (Oct 01, 2024)
11-90086160-G-A		not specified	Uncertain significance (Jan 21, 2025)
11-90086224-A-G		not specified	Uncertain significance (May 02, 2023)
11-90086227-A-G		not specified	Uncertain significance (Sep 18, 2024)
11-90086239-C-G		not specified	Uncertain significance (Dec 16, 2021)
11-90086286-G-A		not specified	Uncertain significance (Jan 23, 2024)
11-90086324-G-A		not specified	Uncertain significance (Nov 26, 2024)
11-90086365-G-A		not specified	Likely benign (Aug 22, 2023)
11-90086409-C-T		not specified	Uncertain significance (Oct 02, 2023)
11-90086410-G-A		not specified	Likely benign (Jan 30, 2024)
11-90086467-A-G		not specified	Uncertain significance (Feb 06, 2024)
11-90086472-G-A		not specified	Uncertain significance (Oct 03, 2022)
11-90086477-G-C		not specified	Uncertain significance (Oct 12, 2024)
11-90086478-A-G		not specified	Uncertain significance (Sep 16, 2021)
11-90086495-T-G		not specified	Uncertain significance (Aug 01, 2022)
11-90086549-A-T		not specified	Uncertain significance (Apr 24, 2023)
11-90086575-A-G		not specified	Uncertain significance (Dec 09, 2024)
11-90086665-G-C		not specified	Uncertain significance (Jun 28, 2024)
11-90086704-T-C		not specified	Uncertain significance (Jun 18, 2021)
11-90086710-T-C		not specified	Uncertain significance (Dec 30, 2024)
11-90086730-A-C		not specified	Uncertain significance (May 21, 2024)
11-90086869-G-A			Likely benign (Dec 01, 2022)
11-90086943-G-C		not specified	Uncertain significance (Aug 10, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Essential for proliferation of the inner cell mass and trophectodermal cells in peri-implantation development. {ECO:0000250|UniProtKB:Q3USZ2}.

Mouse Genome Informatics

• Gene name: Ubtfl1

Gene ontology

• Biological process: blastocyst growth;embryo implantation;regulation of gene expression
• Cellular component: nucleus;cytoplasm
• Molecular function: DNA binding