PIK3CD-AS1

PIK3CD antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:9652610-9654586

Previous symbols: [ "C1orf200" ]

Links

ENSG00000179840 ∙ NCBI:644997 ∙ ∙ HGNC:32346 ∙ Uniprot:Q5SR53 ∙ 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 PIK3CD-AS1 gene.

• not provided (2 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PIK3CD-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				2	1	3
Total	0	0	0	2	1

Variants in PIK3CD-AS1

This is a list of pathogenic ClinVar variants found in the PIK3CD-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
1-9654282-C-T			Benign (Aug 01, 2024)
1-9654307-G-A			Likely benign (Jun 01, 2023)
1-9654484-G-C		not specified	Benign/Likely benign (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PIK3CD-AS1	protein_coding	protein_coding	ENST00000377320	2	1977

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0298	0.608	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.723	78	98.2	0.795	0.00000600	1081
Missense in Polyphen		7	6.6716	1.0492		64
Synonymous	1.90	24	39.1	0.614	0.00000240	349
Loss of Function	0.185	2	2.30	0.869	9.81e-8	28

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: 0.188
• ghis: 0.508

Essentials

• essential_gene_gene_trap: N