DOCK8-AS1

DOCK8 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:212824-215893

Previous symbols: [ "C9orf66" ]

Links

ENSG00000183784 ∙ NCBI:157983 ∙ ∙ HGNC:26436 ∙ Uniprot:Q5T8R8 ∙ 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 DOCK8-AS1 gene.

• Combined immunodeficiency due to DOCK8 deficiency (38 variants)
• not provided (20 variants)
• not specified (7 variants)
• Hyper-IgE syndrome (1 variants)
• DOCK8-related condition (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOCK8-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	1	20	22	14	58
Total	1	1	20	22	14

Variants in DOCK8-AS1

This is a list of pathogenic ClinVar variants found in the DOCK8-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
9-214593-T-C			Benign (Aug 14, 2018)
9-214606-A-C		not specified	Uncertain significance (Sep 17, 2021)
9-214679-G-A			Likely benign (Jul 15, 2018)
9-214706-G-C			Benign (Jun 26, 2018)
9-214719-C-T			Likely benign (Jul 07, 2018)
9-214748-C-T		not specified	Uncertain significance (Sep 09, 2021)
9-214804-A-G		not specified	Benign (Nov 12, 2023)
9-214808-T-A		not specified	Uncertain significance (Oct 22, 2021)
9-214847-A-C			Likely benign (May 12, 2021)
9-214864-C-T		Hyper-IgE syndrome • not specified	Benign (Nov 12, 2023)
9-214871-C-G		not specified	Uncertain significance (Jun 22, 2021)
9-214872-G-T		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jan 12, 2018)
9-214877-T-A		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jan 13, 2018)
9-214908-T-C		Combined immunodeficiency due to DOCK8 deficiency	Benign (Jun 19, 2018)
9-214919-C-T		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jan 13, 2018)
9-214965-C-T		not specified	Likely benign (Oct 26, 2017)
9-214978-T-C		Autosomal recessive hyper-IgE syndrome • Combined immunodeficiency due to DOCK8 deficiency • not specified	Uncertain significance (Jul 15, 2022)
9-214980-G-A		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Sep 01, 2021)
9-214982-C-T		Autosomal recessive hyper-IgE syndrome	Likely benign (Jul 02, 2021)
9-214984-C-G		Autosomal recessive hyper-IgE syndrome	Benign (Oct 05, 2023)
9-214986-C-T		Autosomal recessive hyper-IgE syndrome	Likely benign (Jun 23, 2021)
9-214988-G-T		not specified • Autosomal recessive hyper-IgE syndrome	Likely benign (Jul 27, 2021)
9-214990-C-G		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Apr 19, 2022)
9-214991-G-A		Autosomal recessive hyper-IgE syndrome • DOCK8-related disorder	Benign/Likely benign (Feb 01, 2024)
9-214993-G-T		Autosomal recessive hyper-IgE syndrome	Uncertain significance (Mar 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DOCK8-AS1	protein_coding	protein_coding	ENST00000382387	1	2786

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0239	0.564	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.72	284	154	1.84	0.00000727	1734
Missense in Polyphen		38	20.62	1.8429		212
Synonymous	-1.60	90	72.7	1.24	0.00000343	711
Loss of Function	-0.0533	2	1.92	1.04	8.21e-8	21

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

• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	Medium	Medium
Primary Immunodeficiency	High	High	High
Cancer	High	High	High