SLC35B1

solute carrier family 35 member B1, the group of Solute carrier family 35

Basic information

Region (hg38): 17:49700934-49709014

Links

ENSG00000121073 ∙ NCBI:10237 ∙ OMIM:610790 ∙ HGNC:20798 ∙ Uniprot:P78383 ∙ 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 SLC35B1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35B1 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			21			21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	0	0

Variants in SLC35B1

This is a list of pathogenic ClinVar variants found in the SLC35B1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-49701499-C-T		not specified	Uncertain significance (Dec 11, 2023)
17-49702881-A-T		not specified	Uncertain significance (Sep 22, 2022)
17-49702909-C-T		not specified	Uncertain significance (Feb 16, 2023)
17-49702980-C-A		not specified	Uncertain significance (Jan 19, 2024)
17-49703010-C-T		not specified	Uncertain significance (Sep 24, 2024)
17-49703231-A-T		not specified	Uncertain significance (Oct 03, 2022)
17-49703282-G-A		not specified	Uncertain significance (Jan 17, 2025)
17-49704127-G-C		not specified	Uncertain significance (Aug 04, 2024)
17-49704168-T-C		not specified	Uncertain significance (Jan 30, 2024)
17-49705256-C-T		SLC35B1-related disorder	Likely benign (May 21, 2020)
17-49705266-A-G		not specified	Uncertain significance (Mar 26, 2024)
17-49706221-C-G		not specified	Uncertain significance (Feb 22, 2023)
17-49706221-C-T		not specified	Uncertain significance (Jun 16, 2024)
17-49706265-G-C		not specified	Uncertain significance (Jun 07, 2023)
17-49706271-G-C		not specified	Uncertain significance (Jun 21, 2021)
17-49706273-A-C		not specified	Uncertain significance (Sep 10, 2024)
17-49706283-T-A		not specified	Uncertain significance (Feb 14, 2024)
17-49707003-A-G		not specified	Uncertain significance (Sep 08, 2024)
17-49707025-T-C		not specified	Uncertain significance (Aug 17, 2022)
17-49707030-G-A		not specified	Uncertain significance (Feb 23, 2023)
17-49707047-T-G		not specified	Uncertain significance (Jun 11, 2021)
17-49707048-T-A		not specified	Uncertain significance (Feb 05, 2025)
17-49707055-A-G		not specified	Uncertain significance (Dec 14, 2023)
17-49707743-G-C		not specified	Uncertain significance (Feb 01, 2025)
17-49707743-G-T		not specified	Uncertain significance (Mar 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35B1	protein_coding	protein_coding	ENST00000240333	9	8072

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000173	0.887	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.790	143	172	0.831	0.00000826	2071
Missense in Polyphen		42	66.806	0.62868		796
Synonymous	0.260	68	70.8	0.961	0.00000358	656
Loss of Function	1.51	10	16.6	0.601	7.68e-7	201

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000212	0.000212
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000354	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable sugar transporter. {ECO:0000250}.

Recessive Scores

• pRec: 0.0741

Intolerance Scores

• loftool: 0.536
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.91

Haploinsufficiency Scores

• pHI: 0.158
• hipred: N
• hipred_score: 0.237
• ghis: 0.511

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.623

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc35b1

Gene ontology

• Biological process: carbohydrate transport;UDP-galactose transmembrane transport
• Cellular component: integral component of Golgi membrane;integral component of endoplasmic reticulum membrane;intracellular membrane-bounded organelle
• Molecular function: UDP-galactose transmembrane transporter activity;UDP-glucose transmembrane transporter activity;transmembrane transporter activity