SLC22A14

solute carrier family 22 member 14, the group of Solute carrier family 22

Basic information

Region (hg38): 3:38282294-38318575

Previous symbols: [ "ORCTL4" ]

Links

ENSG00000144671 ∙ NCBI:9389 ∙ OMIM:604048 ∙ HGNC:8495 ∙ Uniprot:Q9Y267 ∙ 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 SLC22A14 gene.

• not_specified (77 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC22A14 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001320033.2. 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				4	1	5
missense			67	9	2	78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	13	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC22A14	protein_coding	protein_coding	ENST00000273173	10	36282

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.17e-13	0.0787	115000	667	10081	125748	0.0437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.139	325	332	0.978	0.0000184	3868
Missense in Polyphen		80	88.641	0.90252		1136
Synonymous	-0.347	151	146	1.04	0.00000891	1220
Loss of Function	0.567	21	24.0	0.875	0.00000111	271

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0366	0.0365
Ashkenazi Jewish	0.0178	0.0175
East Asian	0.246	0.246
Finnish	0.0175	0.0177
European (Non-Finnish)	0.0337	0.0336
Middle Eastern	0.246	0.246
South Asian	0.0388	0.0383
Other	0.0375	0.0373

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0621

Intolerance Scores

• loftool: 0.812
• rvis_EVS: 1.85
• rvis_percentile_EVS: 97.13

Haploinsufficiency Scores

• pHI: 0.0307
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00815

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc22a14

Gene ontology

• Biological process: organic cation transport;transmembrane transport
• Cellular component: integral component of plasma membrane
• Molecular function: organic cation transmembrane transporter activity