GeneBe

PDK4-AS1

PDK4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:95545182-95619995

Links

ENSG00000231170 ∙ NCBI:107986824 ∙ ∙ HGNC:55767 ∙ ∙ ∙ 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 PDK4-AS1 gene.

  • Inborn genetic diseases (11 variants)
  • not provided (3 variants)
  • Malignant tumor of prostate (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PDK4-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
0
non coding
13
clinvar
1
clinvar
1
clinvar
 15
Total 0 0 13 1 1

Variants in PDK4-AS1

This is a list of pathogenic ClinVar variants found in the PDK4-AS1 region.

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

Position Type Phenotype Significance ClinVar
7-95585665-G-T not specified Uncertain significance (Jul 13, 2022)2301417
7-95585748-C-T not specified Uncertain significance (Feb 05, 2024)3210968
7-95587041-C-G not specified Uncertain significance (Jun 04, 2024)3305549
7-95587429-T-G not specified Uncertain significance (Sep 21, 2023)3210977
7-95587431-C-T not specified Uncertain significance (Jun 07, 2023)2559020
7-95587500-A-G not specified Uncertain significance (May 17, 2023)2548271
7-95587513-C-T not specified Uncertain significance (Apr 04, 2024)3305546
7-95587717-G-C Likely benign (Jul 18, 2018)732549
7-95587738-G-T not specified Uncertain significance (Dec 07, 2022)2333813
7-95587745-T-G not specified Uncertain significance (Feb 23, 2023)3210976
7-95587774-G-A not specified Uncertain significance (Apr 17, 2024)3305544
7-95589711-A-C not specified Uncertain significance (Apr 20, 2024)3305547
7-95591994-C-T not specified Uncertain significance (Feb 10, 2022)2276627
7-95592050-G-A not specified Uncertain significance (Apr 08, 2022)2282753
7-95592595-G-T not specified Uncertain significance (Dec 22, 2023)3210972
7-95592767-G-T not specified Uncertain significance (Feb 15, 2023)2484497
7-95592881-T-A not specified Uncertain significance (Dec 15, 2023)3210971
7-95592889-T-C Benign (Apr 02, 2018)715405
7-95592926-G-C not specified Uncertain significance (Dec 27, 2023)3210970
7-95595065-G-A not specified Uncertain significance (Jul 19, 2022)2368422
7-95595117-C-G not specified Uncertain significance (Oct 05, 2023)3210969
7-95595123-G-A Uncertain significance (Apr 01, 2019)810137
7-95596203-T-G not specified Uncertain significance (Jun 07, 2023)2558623
7-95596220-T-G not specified Uncertain significance (Apr 09, 2024)3305545
7-95596235-A-C Malignant tumor of prostate Uncertain significance (-)219304

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP