SLC22A18AS

SLC22A18 antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 11:2887344-2903814

Previous symbols: [ "BWSCR1B", "ORCTL2S", "SLC22A1LS" ]

Links

ENSG00000254827 ∙ NCBI:5003 ∙ OMIM:603240 ∙ HGNC:10965 ∙ Uniprot:Q8N1D0 ∙ 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 SLC22A18AS gene.

• Inborn genetic diseases (3 variants)
• 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 SLC22A18AS 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			3		2	5
Total	0	0	3	0	2

Variants in SLC22A18AS

This is a list of pathogenic ClinVar variants found in the SLC22A18AS region.

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

Position	Type	Phenotype	Significance	ClinVar
11-2888464-G-A		not specified	Uncertain significance (Mar 28, 2022)
11-2902596-A-G		not specified	Benign (Jan 02, 2020)
11-2903376-G-A		not specified	Uncertain significance (May 11, 2022)
11-2903396-G-A		not specified	Uncertain significance (Mar 03, 2023)
11-2903410-G-A			Benign (Nov 18, 2017)
11-2903436-G-A		not specified	Uncertain significance (Oct 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC22A18AS	protein_coding	protein_coding	ENST00000533594	2	15961

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00256	0.570	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0139	140	140	0.997	0.00000760	1600
Missense in Polyphen		15	17.418	0.86116		171
Synonymous	-0.508	58	53.3	1.09	0.00000271	559
Loss of Function	0.314	4	4.74	0.844	2.87e-7	48

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

Intolerance Scores

• rvis_EVS: 1.88
• rvis_percentile_EVS: 97.25

Haploinsufficiency Scores

• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function