TEX38

protein-coding

testis expressed 38

Gene summary

Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C1orf223
ATPAF1-AS1

MANE transcript

NM_001145474.4

Inheritance

—

ClinVar variants

U:28B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.3

Max pathogenic AF

—

Genomic locus

chr1:46,668,855-46,673,594

External References & Databases

Ensembl (ENSG00000186118)

Transcript & Mutation Effects

hg38 • Region Span ~4.7 kb

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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 TEX38 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 29

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001145474.4. 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			1 clinvar	1 clinvar		2
missense			27 clinvar	2 clinvar	1 clinvar	30
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	3	1	32

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001145474.4	RefSeq	NP_001138946.1	2	MANE Select
ENST00000334122.5	Ensembl	ENSP00000455854.1	2	MANE Select
NM_001300863.2	RefSeq	NP_001287792.1	1	Standard
NM_001300864.2	RefSeq	NP_001287793.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000334122
Coding exons: 2
Length: 4740
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	0.824	85	109	0.778	0.00000560	1334
Missense (PolyPhen)		22	30.104	0.73081		370
Synonymous	0.674	41	46.9	0.875	0.00000237	427
Loss of Function	-0.726	9	6.94	1.30	3.81e-7	70

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N

Gene Damage Prediction

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