SLC35E4

solute carrier family 35 member E4, the group of Solute carrier family 35

Basic information

Region (hg38): 22:30635781-30669016

Links

ENSG00000100036 ∙ NCBI:339665 ∙ ∙ HGNC:17058 ∙ Uniprot:Q6ICL7 ∙ 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 SLC35E4 gene.

• not_specified (50 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35E4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001001479.4. 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			49	1		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	49	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35E4	protein_coding	protein_coding	ENST00000343605	2	33365

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0160	0.892	125675	0	57	125732	0.000227

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.991	185	227	0.815	0.0000150	2146
Missense in Polyphen		56	71.75	0.78048		820
Synonymous	0.786	97	107	0.904	0.00000726	858
Loss of Function	1.41	4	8.43	0.474	4.98e-7	74

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000129	0.000123
Ashkenazi Jewish	0.000101	0.0000993
East Asian	0.000110	0.000109
Finnish	0.0000955	0.0000924
European (Non-Finnish)	0.000441	0.000422
Middle Eastern	0.000110	0.000109
South Asian	0.0000659	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.409
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.36

Haploinsufficiency Scores

• pHI: 0.133
• hipred: N
• hipred_score: 0.383
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.240

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc35e4

Gene ontology

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