SLC43A3

solute carrier family 43 member 3, the group of Solute carrier family 43

Basic information

Region (hg38): 11:57406954-57427580

Links

ENSG00000134802 ∙ NCBI:29015 ∙ OMIM:618034 ∙ HGNC:17466 ∙ Uniprot:Q8NBI5 ∙ 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 SLC43A3 gene.

• not_specified (54 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC43A3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000199329.3. 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						0
missense			53	1		54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC43A3	protein_coding	protein_coding	ENST00000395123	12	20627

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000223	0.978	125698	0	50	125748	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.475	260	282	0.920	0.0000157	3172
Missense in Polyphen		56	79.906	0.70083		946
Synonymous	0.828	105	116	0.902	0.00000634	1019
Loss of Function	2.10	13	24.1	0.539	0.00000123	257

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000758	0.000756
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000239	0.000231
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.0000544	0.0000544
South Asian	0.000295	0.000294
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative transporter. {ECO:0000250}.

Recessive Scores

• pRec: 0.0971

Intolerance Scores

• loftool: 0.570
• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.65

Haploinsufficiency Scores

• pHI: 0.0975
• hipred: N
• hipred_score: 0.492
• ghis: 0.561

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.281

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc43a3

Zebrafish Information Network

• Gene name: slc43a3a
• Affected structure: ventricular system
• Phenotype tag: abnormal
• Phenotype quality: hydrocephalic

Gene ontology

• Biological process: biological_process;transmembrane transport
• Cellular component: cellular_component;integral component of membrane
• Molecular function: molecular_function