TASOR

protein-coding

transcription activation suppressor

Gene summary

Enables chromatin binding activity and protein-macromolecule adaptor activity. Involved in protein localization to heterochromatin and transposable element silencing by heterochromatin formation. Located in heterochromatin and nucleoplasm. Part of HUSH complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C3orf63
FAM208A

MANE transcript

NM_001365635.2

Inheritance

—

ClinVar variants

U:137B:13

Top phenotype

Ependymoma

gnomAD constraint

pLI —, LoF o/e 0.16

Max pathogenic AF

—

Genomic locus

chr3:56,620,132-56,683,265

External References & Databases

Ensembl (ENSG00000163946)

Transcript & Mutation Effects

hg38 • Region Span ~63.1 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 TASOR variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 133

not providedTotal: 3

EpendymomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001365635.2. 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			130 clinvar	10 clinvar	1 clinvar	141
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	0	137	11	2	150

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 28 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001365635.2	RefSeq	NP_001352564.1	24	MANE Select
ENST00000683822.1	Ensembl	ENSP00000508241.1	24	MANE Select
NM_001112736.2	RefSeq	NP_001106207.1	24	Standard
NM_001363940.1	RefSeq	NP_001350869.1	23	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

RNA binding
protein binding

Cellular Component

nucleoplasm
chromosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000493960
Coding exons: 24
Length: 63105
Individuals with no LoFs: 125719
Homozygous LoFs: 0
Heterozygous LoFs: 25
Defined: 125744
p: 0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.09	584	745	0.784	0.0000362	9938
Missense (PolyPhen)		139	218.29	0.63676		3242
Synonymous	0.136	273	276	0.990	0.0000138	2806
Loss of Function	6.57	11	70.6	0.156	0.00000406	958

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000095	0.000092	rare
European (Non-Finnish)	0.00014	0.00013	rare
South Asian	0.000033	0.000033	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3. {ECO:0000269|PubMed:26022416}.;

Recessive Scores

pRec: 0.0892

Intolerance Scores

RVIS EVS: -0.24
RVIS percentile EVS: 36.33

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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