SLC35E3

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

Basic information

Region (hg38): 12:68746125-68793964

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.

• not_specified (31 variants)

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. These statistics are base on transcript: NM_000018656.5. 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			30	1		31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	1	0

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