TASOR2

transcription activation suppressor family member 2

Basic information

Region (hg38): 10:5684731-5763779

Previous symbols: [ "C10orf18", "FAM208B" ]

Links

ENSG00000108021 ∙ NCBI:54906 ∙ ∙ HGNC:23484 ∙ Uniprot:Q5VWN6 ∙ 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 TASOR2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TASOR2 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				1		1
missense			136	17		153
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	136	18	0

Variants in TASOR2

This is a list of pathogenic ClinVar variants found in the TASOR2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-5720874-T-G		not specified	Uncertain significance (Oct 04, 2022)
10-5720876-A-G		not specified	Uncertain significance (Jul 12, 2022)
10-5720890-A-C		not specified	Uncertain significance (Jul 19, 2023)
10-5720930-G-A		not specified	Likely benign (Sep 20, 2023)
10-5720948-G-A		not specified	Uncertain significance (Nov 02, 2023)
10-5723707-G-T		not specified	Uncertain significance (Nov 09, 2022)
10-5724477-A-G		not specified	Uncertain significance (May 14, 2024)
10-5726907-A-G		not specified	Uncertain significance (May 04, 2023)
10-5726910-G-A		not specified	Uncertain significance (Jun 30, 2022)
10-5727070-G-T		not specified	Uncertain significance (Dec 07, 2021)
10-5727080-G-T		not specified	Uncertain significance (Apr 07, 2022)
10-5727115-T-C		not specified	Uncertain significance (Nov 17, 2023)
10-5730498-T-A		not specified	Uncertain significance (Oct 24, 2023)
10-5730553-A-G		not specified	Uncertain significance (May 05, 2023)
10-5730604-C-A		not specified	Uncertain significance (Oct 26, 2022)
10-5730622-G-A		not specified	Likely benign (Jul 21, 2021)
10-5730642-A-G		not specified	Uncertain significance (May 09, 2023)
10-5730646-C-T		not specified	Likely benign (Jan 20, 2023)
10-5730709-G-A		not specified	Uncertain significance (Dec 19, 2023)
10-5730739-C-G		not specified	Uncertain significance (Oct 04, 2022)
10-5730742-C-T		not specified	Uncertain significance (Feb 07, 2023)
10-5730750-A-G		not specified	Uncertain significance (Jun 26, 2023)
10-5730769-T-C		not specified	Uncertain significance (Mar 29, 2024)
10-5730816-G-A		not specified	Uncertain significance (Mar 29, 2023)
10-5730859-C-G		not specified	Uncertain significance (Apr 22, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TASOR2	protein_coding	protein_coding	ENST00000328090	18	78903

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.310	0.690	124773	0	21	124794	0.0000841

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0893	1232	1.22e+3	1.01	0.0000613	15860
Missense in Polyphen		207	235.71	0.87819		3468
Synonymous	-1.56	516	473	1.09	0.0000258	4806
Loss of Function	6.69	20	87.6	0.228	0.00000452	1211

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000111
Finnish	0.0000466	0.0000464
European (Non-Finnish)	0.0000979	0.0000971
Middle Eastern	0.000111	0.000111
South Asian	0.0000654	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0759

Intolerance Scores

• rvis_EVS: 2.83
• rvis_percentile_EVS: 99.09

Haploinsufficiency Scores

• pHI: 0.345
• hipred: N
• hipred_score: 0.233
• ghis: 0.536

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: Fam208b

Gene ontology

• Cellular component: nucleus;nucleoplasm;cytosol
• Molecular function: protein binding