SLC35E3

solute carrier family 35 member E3, the group of Solute carrier family 35

Basic information

Region (hg38): 12:68746124-68793964

Links

ENSG00000175782 ∙ NCBI:55508 ∙ ∙ HGNC:20864 ∙ Uniprot:Q7Z769 ∙ 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 SLC35E3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35E3 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in SLC35E3

This is a list of pathogenic ClinVar variants found in the SLC35E3 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-68746480-A-G		not specified	Uncertain significance (Jan 17, 2024)
12-68746498-T-G		not specified	Uncertain significance (Jun 10, 2022)
12-68746562-A-G		not specified	Uncertain significance (May 02, 2024)
12-68746586-A-G		not specified	Uncertain significance (Sep 17, 2021)
12-68746637-T-C		not specified	Uncertain significance (Apr 04, 2024)
12-68746729-C-G		not specified	Uncertain significance (Feb 05, 2024)
12-68746742-A-G		not specified	Uncertain significance (Aug 26, 2022)
12-68747973-T-A		not specified	Uncertain significance (Mar 16, 2024)
12-68752110-A-G		not specified	Uncertain significance (Jul 13, 2022)
12-68759173-C-A		not specified	Uncertain significance (Aug 12, 2021)
12-68759184-G-A		not specified	Uncertain significance (Dec 14, 2023)
12-68759190-A-T		not specified	Uncertain significance (Jan 05, 2022)
12-68759215-T-A		not specified	Uncertain significance (Jul 09, 2021)
12-68764874-T-A		not specified	Uncertain significance (Nov 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35E3	protein_coding	protein_coding	ENST00000398004	5	47623

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.83e-7	0.446	124701	0	94	124795	0.000377

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.124	163	168	0.973	0.00000790	2012
Missense in Polyphen		26	28.869	0.90061		339
Synonymous	-0.456	73	68.2	1.07	0.00000325	646
Loss of Function	0.706	11	13.8	0.795	6.89e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000525	0.000519
Ashkenazi Jewish	0.00	0.00
East Asian	0.000224	0.000223
Finnish	0.00204	0.00204
European (Non-Finnish)	0.000310	0.000300
Middle Eastern	0.000224	0.000223
South Asian	0.0000327	0.0000327
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.705
• rvis_EVS: -0.23
• rvis_percentile_EVS: 37.11

Haploinsufficiency Scores

• pHI: 0.0985
• hipred: N
• hipred_score: 0.352
• ghis: 0.544

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.182

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc35e3

Gene ontology

• Cellular component: Golgi apparatus;integral component of membrane
• Molecular function: nucleotide-sugar transmembrane transporter activity;antiporter activity;transmembrane transporter activity