DNAJC9-AS1

DNAJC9 and MRPS16 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:73247341-73276984

Previous symbols: [ "C10orf103" ]

Links

ENSG00000236756 ∙ NCBI:414245 ∙ ∙ HGNC:31432 ∙ Uniprot:A6NH13 ∙ 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 DNAJC9-AS1 gene.

• not provided (53 variants)
• Inborn genetic diseases (14 variants)
• not specified (11 variants)
• Combined oxidative phosphorylation deficiency (9 variants)
• Combined oxidative phosphorylation defect type 2 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC9-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	1		42	28	10	81
Total	1	0	42	28	10

Highest pathogenic variant AF is 0.0000131

Variants in DNAJC9-AS1

This is a list of pathogenic ClinVar variants found in the DNAJC9-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
10-73249349-T-C		Combined oxidative phosphorylation deficiency	Uncertain significance (Jun 14, 2016)
10-73249558-CAAG-C		Combined oxidative phosphorylation deficiency	Uncertain significance (Jun 14, 2016)
10-73249995-CAGG-C		Combined oxidative phosphorylation deficiency	Uncertain significance (Jun 14, 2016)
10-73250218-C-CA		Combined oxidative phosphorylation deficiency	Uncertain significance (Jun 14, 2016)
10-73250401-AG-A		Combined oxidative phosphorylation deficiency	Uncertain significance (Jun 14, 2016)
10-73250839-A-G			Benign (Mar 03, 2015)
10-73250862-G-A			Uncertain significance (Jul 19, 2022)
10-73250877-G-A		not specified	Uncertain significance (Sep 27, 2022)
10-73250877-G-C		MRPS16-related disorder	Likely benign (Jul 01, 2024)
10-73250878-T-C		not specified	Uncertain significance (Apr 18, 2023)
10-73250886-G-A		not specified	Conflicting classifications of pathogenicity (Jul 04, 2023)
10-73250919-C-A		not specified	Uncertain significance (Sep 30, 2021)
10-73250922-G-A		not specified	Conflicting classifications of pathogenicity (Aug 17, 2022)
10-73250925-C-T			Uncertain significance (Sep 13, 2022)
10-73250926-G-A		not specified	Uncertain significance (Oct 04, 2022)
10-73250934-C-G			Uncertain significance (Aug 19, 2022)
10-73250934-C-T			Uncertain significance (Oct 31, 2022)
10-73250935-G-A		Combined oxidative phosphorylation defect type 2	Uncertain significance (Sep 22, 2024)
10-73250938-GTC-G			Uncertain significance (Mar 13, 2023)
10-73250954-G-A			Likely benign (Jan 18, 2024)
10-73250962-T-C		not specified	Uncertain significance (Dec 20, 2023)
10-73250966-A-T			Uncertain significance (Dec 06, 2023)
10-73250975-G-GA			Uncertain significance (Dec 02, 2021)
10-73250981-G-C			Likely benign (Jul 26, 2021)
10-73250990-AC-A			Pathogenic (Mar 19, 2014)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.111