SLC35G1

solute carrier family 35 member G1, the group of Solute carrier family 35

Basic information

Region (hg38): 10:93893973-93956062

Previous symbols: [ "TMEM20" ]

Links

ENSG00000176273 ∙ NCBI:159371 ∙ OMIM:617167 ∙ HGNC:26607 ∙ Uniprot:Q2M3R5 ∙ 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 SLC35G1 gene.

• not_specified (53 variants)
• not_provided (1 variants)
• Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35G1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001134658.3. 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				1		1
missense			50	4		54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	50	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35G1	protein_coding	protein_coding	ENST00000427197	3	62090

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.162	0.825	125678	0	59	125737	0.000235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0131	191	192	0.997	0.0000101	2351
Missense in Polyphen		44	56.902	0.77326		683
Synonymous	0.918	65	75.1	0.865	0.00000456	756
Loss of Function	2.13	3	10.4	0.288	6.03e-7	136

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000464	0.000463
Ashkenazi Jewish	0.00240	0.00209
East Asian	0.000390	0.000381
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000908	0.0000879
Middle Eastern	0.000390	0.000381
South Asian	0.000173	0.000163
Other	0.000526	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in intracellular calcium sensing and homeostasis. May act as a negative regulator of plasma membrane calcium-transporting ATPases preventing calcium efflux from the cell. {ECO:0000269|PubMed:22084111}.

Recessive Scores

• pRec: 0.0305

Intolerance Scores

• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.15

Haploinsufficiency Scores

• pHI: 0.0146
• hipred: Y
• hipred_score: 0.565
• ghis: 0.483

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc35g1

Gene ontology

• Biological process: regulation of cytosolic calcium ion concentration;calcium ion export across plasma membrane
• Cellular component: endoplasmic reticulum membrane;plasma membrane;integral component of membrane
• Molecular function: protein binding