TASOR

transcription activation suppressor

Basic information

Region (hg38): 3:56620132-56683265

Previous symbols: [ "C3orf63", "FAM208A" ]

Links

ENSG00000163946 ∙ NCBI:23272 ∙ OMIM:616493 ∙ HGNC:30314 ∙ Uniprot:Q9UK61 ∙ 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 TASOR gene.

• not_specified (117 variants)
• not_provided (2 variants)
• Ependymoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TASOR gene is commonly pathogenic or not. These statistics are base on transcript: NM_001365635.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			108	10	1	119
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	108	10	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TASOR	protein_coding	protein_coding	ENST00000493960	24	63105

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000463	125719	0	25	125744	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.09	584	745	0.784	0.0000362	9938
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000179	0.000179
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000953	0.0000924
European (Non-Finnish)	0.000138	0.000132
Middle Eastern	0.00	0.00
South Asian	0.0000329	0.0000327
Other	0.000328	0.000326

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.323
• hipred: N
• hipred_score: 0.497
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam208a
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype; growth/size/body region phenotype

Gene ontology

• Cellular component: nucleoplasm;chromosome
• Molecular function: RNA binding;protein binding