SLC35A5

solute carrier family 35 member A5, the group of Solute carrier family 35

Basic information

Region (hg38): 3:112561709-112585579

Links

ENSG00000138459 ∙ NCBI:55032 ∙ OMIM:620298 ∙ HGNC:20792 ∙ Uniprot:Q9BS91 ∙ 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 SLC35A5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35A5 gene is commonly pathogenic or not. These statistics are base on transcript: . 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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			27	3		30
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	27	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35A5	protein_coding	protein_coding	ENST00000492406	6	23869

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000189	0.696	125674	0	73	125747	0.000290

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0713	226	223	1.01	0.0000110	2802
Missense in Polyphen		75	75.869	0.98855		1000
Synonymous	-0.963	89	78.2	1.14	0.00000364	810
Loss of Function	1.12	11	15.8	0.697	7.48e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000417	0.000394
Ashkenazi Jewish	0.00	0.00
East Asian	0.00104	0.00103
Finnish	0.00	0.00
European (Non-Finnish)	0.000248	0.000246
Middle Eastern	0.00104	0.00103
South Asian	0.000501	0.000457
Other	0.000655	0.000652

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.51
• rvis_percentile_EVS: 80.1

Haploinsufficiency Scores

• pHI: 0.0808
• hipred: N
• hipred_score: 0.216
• ghis: 0.464

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.924

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc35a5

Gene ontology

• Biological process: carbohydrate transport;sialic acid transport;pyrimidine nucleotide-sugar transmembrane transport
• Cellular component: Golgi apparatus;integral component of Golgi membrane
• Molecular function: sialic acid transmembrane transporter activity;pyrimidine nucleotide-sugar transmembrane transporter activity