SLC35G6

solute carrier family 35 member G6, the group of Solute carrier family 35

Basic information

Region (hg38): 17:7481445-7483496

Previous symbols: [ "TMEM21B", "AMAC1L3" ]

Links

ENSG00000259224 ∙ NCBI:643664 ∙ ∙ HGNC:31351 ∙ Uniprot:P0C7Q6 ∙ 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 SLC35G6 gene.

• Inborn genetic diseases (22 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35G6 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			20	2		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	2	0

Variants in SLC35G6

This is a list of pathogenic ClinVar variants found in the SLC35G6 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-7482034-C-T		not specified	Uncertain significance (Oct 18, 2021)
17-7482045-G-A		not specified	Likely benign (Jun 29, 2023)
17-7482108-G-C		not specified	Uncertain significance (Dec 07, 2021)
17-7482252-C-T		not specified	Uncertain significance (Jan 23, 2024)
17-7482260-C-A		not specified	Uncertain significance (Apr 19, 2023)
17-7482285-C-G		not specified	Uncertain significance (Apr 19, 2023)
17-7482316-A-C		not specified	Uncertain significance (Jan 27, 2022)
17-7482318-G-A		not specified	Uncertain significance (Feb 21, 2024)
17-7482336-G-A		not specified	Uncertain significance (Nov 10, 2022)
17-7482385-G-C		not specified	Uncertain significance (May 03, 2023)
17-7482402-G-A		not specified	Uncertain significance (Jan 19, 2024)
17-7482403-T-G		not specified	Uncertain significance (Oct 22, 2021)
17-7482459-T-G		not specified	Uncertain significance (Aug 02, 2022)
17-7482480-A-T		not specified	Uncertain significance (May 24, 2023)
17-7482501-G-A		not specified	Uncertain significance (Dec 02, 2022)
17-7482531-G-A		not specified	Uncertain significance (Oct 05, 2023)
17-7482550-C-A		not specified	Uncertain significance (Feb 15, 2023)
17-7482576-G-T		not specified	Likely benign (Jun 16, 2023)
17-7482589-C-T		not specified	Uncertain significance (Mar 28, 2023)
17-7482627-T-C		Inborn genetic diseases	Uncertain significance (Dec 15, 2021)
17-7482711-C-T		not specified	Uncertain significance (Apr 19, 2023)
17-7482718-T-C		not specified	Uncertain significance (Dec 07, 2021)
17-7482862-C-T		not specified	Uncertain significance (Apr 05, 2023)
17-7482934-T-C		not specified	Uncertain significance (Jul 05, 2022)
17-7482958-C-G		not specified	Uncertain significance (Mar 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35G6	protein_coding	protein_coding	ENST00000412468	2	1663

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000533	0.712	125688	0	60	125748	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0439	186	188	0.991	0.0000110	2090
Missense in Polyphen		70	70.764	0.98921		881
Synonymous	0.750	83	92.2	0.901	0.00000635	808
Loss of Function	0.864	6	8.76	0.685	5.33e-7	89

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00145	0.00145
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000185	0.000185
Middle Eastern	0.000272	0.000272
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Intolerance Scores

• rvis_EVS: 1.04
• rvis_percentile_EVS: 91.26

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.139
• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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

Gene ontology

• Cellular component: integral component of membrane