TASL

protein-coding

TLR adaptor interacting with endolysosomal SLC15A4

Gene summary

Involved in obsolete regulation of lysosomal lumen pH; positive regulation of toll-like receptor 7 signaling pathway; and positive regulation of toll-like receptor 8 signaling pathway. Located in cytosol; endolysosome membrane; and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

CXorf21

MANE transcript

NM_025159.3

Inheritance

—

ClinVar variants

U:20B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chrX:30,558,809-30,577,766

External References & Databases

Ensembl (ENSG00000120280)

Transcript & Mutation Effects

hg38 • Region Span ~19.0 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TASL variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 4

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_025159.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	2 clinvar		4
missense			17 clinvar	1 clinvar		18
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	20	3	0	23

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_025159.3	RefSeq	NP_079435.1	1	MANE Select
ENST00000378962.4	Ensembl	ENSP00000368245.3	1	MANE Select
ENST00000955826.1	Ensembl	ENSP00000625885.1	1	Standard
ENST00000955826.2	Ensembl	ENSP00000625885.1	1	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000378962
Coding exons: 1
Length: 19021
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.929	78	105	0.744	0.00000715	1993
Missense (PolyPhen)		8	28.411	0.28158		592
Synonymous	0.218	38	39.7	0.956	0.00000278	569
Loss of Function	2.29	0	6.09	0.00	3.82e-7	132

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.153
RVIS EVS: -0.19
RVIS percentile EVS: 39.68

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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