SLC35G5

solute carrier family 35 member G5, the group of Solute carrier family 35

Basic information

Region (hg38): 8:11331012-11332360

Previous symbols: [ "AMAC", "AMAC1L2" ]

Links

ENSG00000177710 ∙ NCBI:83650 ∙ OMIM:615199 ∙ HGNC:15546 ∙ Uniprot:Q96KT7 ∙ 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 SLC35G5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35G5 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				1		1
missense			40			40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	1	0

Variants in SLC35G5

This is a list of pathogenic ClinVar variants found in the SLC35G5 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-11331118-T-A		not specified	Uncertain significance (Mar 19, 2024)
8-11331151-C-G		not specified	Uncertain significance (Nov 07, 2024)
8-11331152-C-T		not specified	Uncertain significance (Jul 09, 2024)
8-11331156-C-T		not specified	Uncertain significance (Jan 27, 2025)
8-11331159-C-T		not specified	Uncertain significance (Mar 08, 2024)
8-11331161-C-A		not specified	Uncertain significance (Nov 12, 2024)
8-11331170-C-G		not specified	Uncertain significance (Nov 06, 2023)
8-11331182-C-T		not specified	Uncertain significance (Aug 14, 2024)
8-11331183-G-A		not specified	Uncertain significance (Dec 21, 2024)
8-11331187-G-C		not specified	Uncertain significance (Jan 19, 2024)
8-11331203-C-G		not specified	Uncertain significance (Feb 06, 2023)
8-11331219-A-G		not specified	Uncertain significance (Dec 14, 2023)
8-11331233-G-T		not specified	Uncertain significance (May 26, 2023)
8-11331257-G-C		not specified	Uncertain significance (Feb 05, 2025)
8-11331294-A-G		not specified	Uncertain significance (Nov 07, 2022)
8-11331312-C-T		not specified	Uncertain significance (Feb 20, 2025)
8-11331351-C-G		not specified	Uncertain significance (May 03, 2023)
8-11331362-C-G		not specified	Uncertain significance (Jul 12, 2023)
8-11331386-C-G		not specified	Uncertain significance (Feb 07, 2023)
8-11331398-C-G		not specified	Uncertain significance (Jun 19, 2024)
8-11331410-G-A		not specified	Uncertain significance (Jul 05, 2024)
8-11331439-C-G		not specified	Uncertain significance (Jun 25, 2024)
8-11331443-C-T		not specified	Uncertain significance (Sep 30, 2024)
8-11331449-A-G		not specified	Uncertain significance (Jul 22, 2024)
8-11331493-C-T			Likely benign (Nov 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35G5	protein_coding	protein_coding	ENST00000382435	1	1321

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.39	320	189	1.69	0.0000113	2083
Missense in Polyphen		106	67.585	1.5684		848
Synonymous	-2.99	124	88.3	1.40	0.00000559	816
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Intolerance Scores

• rvis_EVS: 1.36
• rvis_percentile_EVS: 94.44

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

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

Gene Damage Prediction

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

Gene ontology

• Cellular component: integral component of membrane