TSPEAR-AS2

Gene

TSPEAR antisense RNA 2, the group of Antisense RNAs

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C21orf90

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:1

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 0.89

Max pathogenic AF

—

External References & Databases

Ensembl (ENSG00000182912)

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 TSPEAR-AS2 variants in ClinVar

8 Conditions Cataloged

not providedTotal: 75

not specifiedTotal: 13

Inborn genetic diseasesTotal: 7

Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisTotal: 5

Tooth agenesis, selective, 10Total: 4

Autosomal recessive nonsyndromic hearing loss 98;Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisTotal: 2

TSPEAR-related conditionTotal: 1

Hearing impairmentTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	1	0	0	1

Highest pathogenic variant AF is 0.000079766

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000330490
Coding exons: 3
Length: 8737
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	0.0855	35	36.5	0.960	0.00000240	400
Missense (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

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 (gene trap): N