TCEAL8

transcription elongation factor A like 8, the group of Transcription elongation factor A like family

Basic information

Region (hg38): X:103252995-103255192

Links

ENSG00000180964 ∙ NCBI:90843 ∙ ∙ HGNC:28683 ∙ Uniprot:Q8IYN2 ∙ 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 TCEAL8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TCEAL8 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			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	0

Variants in TCEAL8

This is a list of pathogenic ClinVar variants found in the TCEAL8 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-103253673-G-T		not specified	Uncertain significance (Apr 08, 2024)
X-103253745-C-T		not specified	Uncertain significance (Mar 31, 2023)
X-103253788-G-C		not specified	Uncertain significance (Mar 16, 2022)
X-103253803-C-G		not specified	Uncertain significance (Jan 31, 2024)
X-103253819-G-A		not specified	Likely benign (Jan 19, 2024)
X-103253845-T-A		not specified	Uncertain significance (Feb 02, 2022)
X-103253851-G-C		not specified	Uncertain significance (Mar 16, 2024)
X-103253925-C-T		not specified	Uncertain significance (Dec 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TCEAL8	protein_coding	protein_coding	ENST00000372685	1	2209

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.543	0.406	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.359	40	46.9	0.852	0.00000350	778
Missense in Polyphen		4	7.258	0.55111		167
Synonymous	0.378	13	14.9	0.875	0.00000107	208
Loss of Function	1.42	0	2.33	0.00	1.46e-7	48

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: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.0711

Intolerance Scores

• loftool: 0.544
• rvis_EVS: 0.1
• rvis_percentile_EVS: 60.96

Haploinsufficiency Scores

• pHI: 0.110
• hipred: N
• hipred_score: 0.112
• ghis: 0.587

Essentials

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

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tceal8

Gene ontology

• Cellular component: nucleus
• Molecular function: WW domain binding