SVOP

SV2 related protein, the group of Solute carrier family 22

Basic information

Region (hg38): 12:108907741-109021068

Links

ENSG00000166111 ∙ NCBI:55530 ∙ OMIM:611699 ∙ HGNC:25417 ∙ Uniprot:Q8N4V2 ∙ 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 SVOP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SVOP 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						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SVOP	protein_coding	protein_coding	ENST00000299134	14	154388

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000624	124621	0	3	124624	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.46	155	268	0.578	0.0000151	3081
Missense in Polyphen		40	95.484	0.41892		1082
Synonymous	1.08	98	113	0.870	0.00000712	987
Loss of Function	4.75	2	30.1	0.0664	0.00000164	313

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000158	0.000157
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

Recessive Scores

• pRec: 0.122

Haploinsufficiency Scores

• pHI: 0.259
• ghis: 0.610

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.508

Mouse Genome Informatics

• Gene name: Svop
• Phenotype: growth/size/body region phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype

Gene ontology

• Biological process: transmembrane transport
• Cellular component: synaptic vesicle;integral component of membrane;cell junction;synaptic vesicle membrane
• Molecular function: transmembrane transporter activity