SLC35F4

solute carrier family 35 member F4, the group of Solute carrier family 35

Basic information

Region (hg38): 14:57563919-57982194

Previous symbols: [ "C14orf36" ]

Links

ENSG00000151812 ∙ NCBI:341880 ∙ ∙ HGNC:19845 ∙ Uniprot:A4IF30 ∙ 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 SLC35F4 gene.

• Inborn genetic diseases (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35F4 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			17			17
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	19	0	0

Variants in SLC35F4

This is a list of pathogenic ClinVar variants found in the SLC35F4 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-57564343-T-C		not specified	Uncertain significance (Jan 03, 2022)
14-57564370-T-C		not specified	Uncertain significance (Jan 27, 2022)
14-57566487-G-A		not specified	Uncertain significance (Mar 23, 2022)
14-57569881-G-A		not specified	Uncertain significance (Jan 26, 2023)
14-57571928-G-A		not specified	Uncertain significance (Jun 23, 2023)
14-57571955-G-C		not specified	Uncertain significance (Mar 06, 2023)
14-57571956-C-T		not specified	Uncertain significance (Oct 02, 2023)
14-57571985-A-G		not specified	Uncertain significance (Mar 01, 2023)
14-57572017-T-C		not specified	Uncertain significance (Nov 07, 2022)
14-57572018-A-G		not specified	Uncertain significance (Feb 05, 2024)
14-57581219-C-T		not specified	Uncertain significance (Sep 16, 2021)
14-57581240-G-T		not specified	Uncertain significance (Feb 28, 2024)
14-57589292-T-C		not specified	Uncertain significance (Jun 09, 2022)
14-57589333-T-C		not specified	Uncertain significance (Sep 23, 2023)
14-57589367-T-A		not specified	Uncertain significance (Nov 08, 2022)
14-57589376-C-T		not specified	Uncertain significance (Feb 17, 2024)
14-57589432-A-G		not specified	Uncertain significance (Jul 19, 2022)
14-57589438-G-A		not specified	Uncertain significance (May 04, 2023)
14-57589438-G-T		not specified	Uncertain significance (Jan 20, 2023)
14-57589441-C-G		not specified	Uncertain significance (May 31, 2023)
14-57589493-G-A		not specified	Uncertain significance (Jun 23, 2023)
14-57593995-T-C		not specified	Uncertain significance (Nov 22, 2023)
14-57594026-C-T		not specified	Uncertain significance (Dec 27, 2023)
14-57594035-A-G		not specified	Uncertain significance (Jan 23, 2023)
14-57594056-T-C		not specified	Uncertain significance (Feb 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35F4	protein_coding	protein_coding	ENST00000339762	8	418273

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00859	0.989	124616	0	14	124630	0.0000562

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.360	252	269	0.938	0.0000132	3375
Missense in Polyphen		84	99.627	0.84314		1253
Synonymous	0.808	94	105	0.899	0.00000545	1048
Loss of Function	2.66	7	19.7	0.355	8.36e-7	263

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000190	0.000187
Ashkenazi Jewish	0.00	0.00
East Asian	0.000112	0.000111
Finnish	0.0000475	0.0000464
European (Non-Finnish)	0.0000540	0.0000531
Middle Eastern	0.000112	0.000111
South Asian	0.0000331	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.107

Haploinsufficiency Scores

• pHI: 0.339
• hipred: N
• hipred_score: 0.377
• ghis: 0.528

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.228

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc35f4

Gene ontology

• Biological process: transmembrane transport
• Cellular component: integral component of membrane
• Molecular function: transmembrane transporter activity