SPNS1

SPNS lysolipid transporter 1, lysophospholipid, the group of Solute carrier family 63, sphingosine phosphate transporters

Basic information

Region (hg38): 16:28974221-28984548

Links

ENSG00000169682 ∙ NCBI:83985 ∙ OMIM:612583 ∙ HGNC:30621 ∙ Uniprot:Q9H2V7 ∙ 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 SPNS1 gene.

• not_specified (55 variants)
• not_provided (4 variants)
• Elevated_circulating_hepatic_transaminase_concentration (2 variants)
• Motor_delay (2 variants)
• Hyperbilirubinemia (2 variants)
• Fatigue (2 variants)
• Attention_deficit_hyperactivity_disorder (2 variants)
• Left_ventricular_hypertrophy (2 variants)
• Myalgia (2 variants)
• Elevated_circulating_creatine_kinase_concentration (2 variants)
• Delayed_speech_and_language_development (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPNS1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032038.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	3	1	5
missense			55	3		58
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)			7			7
Total	0	0	64	6	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SPNS1	protein_coding	protein_coding	ENST00000311008	12	10328

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125736	0	11	125747	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.06	237	344	0.688	0.0000226	3318
Missense in Polyphen		62	125.75	0.49303		1269
Synonymous	0.797	137	149	0.917	0.00000962	1210
Loss of Function	2.97	7	22.1	0.317	0.00000103	229

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000481	0.0000462
European (Non-Finnish)	0.0000447	0.0000439
Middle Eastern	0.00	0.00
South Asian	0.0000655	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death. {ECO:0000250, ECO:0000269|PubMed:12815463}.

Recessive Scores

• pRec: 0.300

Intolerance Scores

• loftool: 0.579
• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.72

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.971

Gene Damage Prediction

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

Zebrafish Information Network

• Gene name: spns1
• Affected structure: cell
• Phenotype tag: abnormal
• Phenotype quality: accumulation

Gene ontology

• Biological process: lipid transport;transmembrane transport
• Cellular component: mitochondrial inner membrane;lysosomal membrane;integral component of membrane
• Molecular function: protein binding