SVOPL

SVOP like, the group of Solute carrier family 22

Basic information

Region (hg38): 7:138594284-138701362

Links

ENSG00000157703 ∙ NCBI:136306 ∙ OMIM:611700 ∙ HGNC:27034 ∙ Uniprot:Q8N434 ∙ 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 SVOPL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SVOPL 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				1	1	2
missense			44	3	2	49
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	44	5	3

Variants in SVOPL

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

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

Position	Type	Phenotype	Significance	ClinVar
7-138594621-G-T		not specified	Uncertain significance (Jan 31, 2023)
7-138596418-T-C		not specified	Uncertain significance (Aug 02, 2022)
7-138596427-C-G		not specified	Uncertain significance (Jul 13, 2021)
7-138596443-T-C		not specified	Uncertain significance (Dec 01, 2022)
7-138596451-G-A		not specified	Uncertain significance (Mar 07, 2024)
7-138596523-A-G		not specified	Uncertain significance (Nov 08, 2022)
7-138621077-A-T		not specified	Uncertain significance (Jun 03, 2022)
7-138621102-C-T		not specified	Uncertain significance (Apr 12, 2022)
7-138621117-G-A		not specified	Uncertain significance (Apr 17, 2023)
7-138621122-G-T		not specified	Uncertain significance (Mar 16, 2022)
7-138625989-C-T		not specified	Likely benign (Oct 14, 2023)
7-138625997-A-C		not specified	Uncertain significance (Apr 24, 2024)
7-138627389-G-A		not specified	Uncertain significance (Oct 27, 2022)
7-138627420-G-A		not specified	Uncertain significance (Nov 07, 2022)
7-138627446-A-G		not specified	Uncertain significance (Jun 29, 2023)
7-138628170-C-T		not specified	Uncertain significance (Jan 16, 2024)
7-138628230-G-A		not specified	Uncertain significance (Dec 12, 2023)
7-138628232-C-T		not specified	Uncertain significance (Feb 03, 2022)
7-138628242-C-T			Likely benign (Nov 06, 2018)
7-138628251-C-A		not specified	Uncertain significance (Sep 06, 2022)
7-138628257-C-A		not specified	Uncertain significance (May 25, 2023)
7-138628271-G-A		not specified	Uncertain significance (Jun 06, 2022)
7-138628326-C-T		not specified	Uncertain significance (Jan 26, 2022)
7-138628332-T-A		not specified	Uncertain significance (Jun 21, 2022)
7-138628343-T-C		not specified	Uncertain significance (Feb 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SVOPL	protein_coding	protein_coding	ENST00000419765	15	107068

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.18e-9	0.842	125027	1	720	125748	0.00287

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.334	323	307	1.05	0.0000188	3147
Missense in Polyphen		105	101.74	1.032		1014
Synonymous	-0.957	136	123	1.11	0.00000780	1033
Loss of Function	1.63	17	26.0	0.655	0.00000110	319

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00438	0.00438
Ashkenazi Jewish	0.00367	0.00368
East Asian	0.000490	0.000489
Finnish	0.000554	0.000554
European (Non-Finnish)	0.00429	0.00429
Middle Eastern	0.000490	0.000489
South Asian	0.000686	0.000653
Other	0.00408	0.00408

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.946
• rvis_EVS: -0.06
• rvis_percentile_EVS: 48.87

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.229

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0236

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Svopl

Gene ontology

• Biological process: transmembrane transport
• Cellular component: integral component of membrane
• Molecular function: transmembrane transporter activity