TSPOAP1-AS1

TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1, the group of Antisense RNAs

Basic information

Previous symbols: [ "BZRAP1-AS1" ]

Links

ENSG00000265148

∙ NCBI:100506779 ∙ ∙ HGNC:44148 ∙ ∙ ∙ 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 TSPOAP1-AS1 gene.

not provided (454 variants)
Sessile serrated polyposis cancer syndrome (110 variants)
not specified (75 variants)
Inborn genetic diseases (26 variants)
Colon serrated polyposis (1 variants)
Dystonia 22, juvenile-onset (1 variants)
Bardet-Biedl syndrome (1 variants)
RNF43-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSPOAP1-AS1 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)						0
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	2 clinvar	3 clinvar	339 clinvar	164 clinvar	29 clinvar	537
Total	2	3	339	164	29

Highest pathogenic variant AF is 0.00000664

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP