SLC18B1

solute carrier family 18 member B1, the group of Solute carrier family 18

Basic information

Region (hg38): 6:132769370-132813339

Previous symbols: [ "C6orf192" ]

Links

ENSG00000146409 ∙ NCBI:116843 ∙ OMIM:613361 ∙ HGNC:21573 ∙ Uniprot:Q6NT16 ∙ 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 SLC18B1 gene.

• not_specified (75 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC18B1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000052831.3. 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				2		2
missense			67	7		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	9	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC18B1	protein_coding	protein_coding	ENST00000275227	14	29193

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.02e-17	0.00252	125655	0	91	125746	0.000362

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.385	255	238	1.07	0.0000116	2903
Missense in Polyphen		78	73.626	1.0594		941
Synonymous	-0.634	99	91.3	1.08	0.00000509	934
Loss of Function	-0.351	25	23.2	1.08	0.00000106	296

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000462	0.000462
Ashkenazi Jewish	0.00	0.00
East Asian	0.00115	0.00103
Finnish	0.000720	0.000693
European (Non-Finnish)	0.000202	0.000193
Middle Eastern	0.00115	0.00103
South Asian	0.000589	0.000588
Other	0.000568	0.000489

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.49

Haploinsufficiency Scores

• pHI: 0.137
• hipred: N
• hipred_score: 0.250
• ghis: 0.534

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: 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

Mouse Genome Informatics

• Gene name: Slc18b1

Gene ontology

• Biological process: transmembrane transport
• Cellular component: integral component of membrane