TCF24

transcription factor 24, the group of Basic helix-loop-helix proteins

Basic information

Region (hg38): 8:66946501-66962591

Links

ENSG00000261787 ∙ NCBI:100129654 ∙ ∙ HGNC:32275 ∙ Uniprot:Q7RTU0 ∙ 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 TCF24 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TCF24 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in TCF24

This is a list of pathogenic ClinVar variants found in the TCF24 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-66948154-A-G		not specified	Uncertain significance (Oct 13, 2023)
8-66961429-C-G		not specified	Uncertain significance (Feb 27, 2023)
8-66961531-C-A		not specified	Uncertain significance (Apr 05, 2023)
8-66961533-G-C		not specified	Uncertain significance (Jul 25, 2023)
8-66961536-G-C		not specified	Uncertain significance (Sep 16, 2021)
8-66961582-C-A		not specified	Uncertain significance (Sep 14, 2022)
8-66961620-C-G		not specified	Uncertain significance (Aug 30, 2021)
8-66961647-C-G		not specified	Uncertain significance (Nov 18, 2023)
8-66961647-C-T		not specified	Uncertain significance (Aug 02, 2021)
8-66961669-C-T		not specified	Uncertain significance (May 14, 2024)
8-66961690-C-A		not specified	Uncertain significance (Jul 21, 2021)
8-66961710-G-A		not specified	Uncertain significance (Nov 03, 2023)
8-66961711-G-T		not specified	Uncertain significance (May 18, 2023)
8-66961717-G-A		not specified	Uncertain significance (Jul 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TCF24	protein_coding	protein_coding	ENST00000563496	2	16090

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0257	0.579	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.113	46	43.9	1.05	0.00000200	1020
Missense in Polyphen		14	20.566	0.68072		340
Synonymous	-0.596	25	21.5	1.16	0.00000107	402
Loss of Function	0.0269	2	2.04	0.980	8.62e-8	39

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: Putative transcription factor. {ECO:0000250}.

Haploinsufficiency Scores

• pHI: 0.0825
• ghis: 0.399

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tcf24

Gene ontology

• Cellular component: nucleus
• Molecular function: DNA binding;protein dimerization activity