TSPEAR-AS2

TSPEAR antisense RNA 2, the group of Antisense RNAs

Basic information

Previous symbols: [ "C21orf90" ]

Links

ENSG00000182912 ∙ NCBI:114043 ∙ ∙ HGNC:16428 ∙ Uniprot:P59090 ∙ 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 TSPEAR-AS2 gene.

• not provided (75 variants)
• not specified (13 variants)
• Inborn genetic diseases (7 variants)
• Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (5 variants)
• Tooth agenesis, selective, 10 (4 variants)
• Autosomal recessive nonsyndromic hearing loss 98;Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (2 variants)
• TSPEAR-related condition (1 variants)
• Hearing impairment (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSPEAR-AS2 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding	10	5	37	26	6	84
Total	10	5	38	26	6

Highest pathogenic variant AF is 0.0000798

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TSPEAR-AS2	protein_coding	protein_coding	ENST00000330490	3	8737

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0290	0.603	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0855	35	36.5	0.960	0.00000240	400
Missense in Polyphen		3	3.6706	0.81731		44
Synonymous	0.0197	16	16.1	0.994	0.00000109	137
Loss of Function	0.156	2	2.25	0.888	9.46e-8	34

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.100

Essentials

• essential_gene_gene_trap: N