UTF1

undifferentiated embryonic cell transcription factor 1

Basic information

Region (hg38): 10:133230216-133231558

Links

ENSG00000171794 ∙ NCBI:8433 ∙ OMIM:604130 ∙ HGNC:12634 ∙ Uniprot:Q5T230 ∙ 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 UTF1 gene.

• Inborn genetic diseases (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UTF1 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			20	1		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	0

Variants in UTF1

This is a list of pathogenic ClinVar variants found in the UTF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-133230298-C-A			Benign (Jan 12, 2024)
10-133230391-A-G		not specified	Uncertain significance (Feb 03, 2022)
10-133230418-A-C		not specified	Uncertain significance (Aug 12, 2021)
10-133230425-T-G		not specified	Uncertain significance (Aug 30, 2022)
10-133230482-C-T		not specified	Uncertain significance (Jul 26, 2022)
10-133230566-C-G		not specified	Uncertain significance (Mar 28, 2023)
10-133230671-C-T		not specified	Uncertain significance (Dec 15, 2022)
10-133230697-G-C		not specified	Uncertain significance (Mar 20, 2023)
10-133230709-C-T		not specified	Uncertain significance (Jan 27, 2022)
10-133230761-G-T		not specified	Uncertain significance (Nov 22, 2023)
10-133230810-C-G		not specified	Uncertain significance (Dec 13, 2023)
10-133230834-A-T		not specified	Uncertain significance (Jul 13, 2021)
10-133231050-G-A		not specified	Likely benign (Dec 06, 2022)
10-133231075-C-G		not specified	Uncertain significance (Oct 18, 2021)
10-133231089-G-A		not specified	Uncertain significance (Jul 14, 2021)
10-133231110-T-A		not specified	Uncertain significance (May 30, 2023)
10-133231125-C-G		not specified	Uncertain significance (Oct 10, 2023)
10-133231131-C-T		not specified	Uncertain significance (Apr 13, 2023)
10-133231134-G-A		not specified	Uncertain significance (Jun 12, 2023)
10-133231153-C-T		not specified	Uncertain significance (Jan 31, 2022)
10-133231156-C-T		not specified	Uncertain significance (Jun 24, 2022)
10-133231161-C-A		not specified	Uncertain significance (Sep 25, 2023)
10-133231170-C-A		not specified	Uncertain significance (Jul 25, 2023)
10-133231178-C-G		not specified	Uncertain significance (Aug 17, 2022)
10-133231213-C-G		not specified	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UTF1	protein_coding	protein_coding	ENST00000304477	2	1285

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.508	0.428	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.854	62	84.0	0.738	0.00000440	2021
Missense in Polyphen		7	9.7158	0.72047		189
Synonymous	-1.69	54	40.4	1.34	0.00000219	800
Loss of Function	1.31	0	2.01	0.00	8.72e-8	55

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a transcriptional coactivator of ATF2. {ECO:0000269|PubMed:9748258}.

Recessive Scores

• pRec: 0.127

Haploinsufficiency Scores

• pHI: 0.620
• hipred: N
• hipred_score: 0.285
• ghis: 0.465

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Utf1
• Phenotype: cellular phenotype; growth/size/body region phenotype; embryo phenotype; skeleton phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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)

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;male gonad development;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: transcription coactivator activity;protein binding