SLC35F5

solute carrier family 35 member F5, the group of MicroRNA protein coding host genes|Solute carrier family 35

Basic information

Region (hg38): 2:113705011-113756693

Links

ENSG00000115084 ∙ NCBI:80255 ∙ OMIM:619997 ∙ HGNC:23617 ∙ Uniprot:Q8WV83 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• multiple congenital anomalies/dysmorphic syndrome (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC35F5 gene.

• not_specified (58 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35F5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025181.5. 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						0
missense			56	3		59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35F5	protein_coding	protein_coding	ENST00000245680	15	51813

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.50e-8	0.985	125704	0	42	125746	0.000167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.979	230	276	0.834	0.0000133	3417
Missense in Polyphen		28	54.762	0.5113		695
Synonymous	-0.174	93	90.9	1.02	0.00000445	1003
Loss of Function	2.28	17	30.6	0.555	0.00000153	358

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000257	0.000256
Ashkenazi Jewish	0.00	0.00
East Asian	0.000112	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000212	0.000211
Middle Eastern	0.000112	0.000109
South Asian	0.000236	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative solute transporter. {ECO:0000305}.

Recessive Scores

• pRec: 0.0998

Intolerance Scores

• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.74

Haploinsufficiency Scores

• pHI: 0.263
• hipred: N
• hipred_score: 0.478
• ghis: 0.516

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.595

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc35f5

Gene ontology

• Cellular component: integral component of membrane