SLC18B1

protein-coding

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

Gene summary

This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008]

Previous symbols:

C6orf192

MANE transcript

NM_052831.3

Inheritance

—

ClinVar variants

U:81B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.08

Max pathogenic AF

—

Genomic locus

chr6:132,769,370-132,813,339

External References & Databases

Ensembl (ENSG00000146409)

Transcript & Mutation Effects

hg38 • Region Span ~44.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC18B1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 78

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_052831.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	2 clinvar		5
missense			75 clinvar	8 clinvar		83
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	81	10	0	91

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 38 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_052831.3	RefSeq	NP_439896.1	14	MANE Select
ENST00000275227.9	Ensembl	ENSP00000275227.4	14	MANE Select
ENST00000647932.1	Ensembl	ENSP00000497768.1	12	Standard
ENST00000647932.2	Ensembl	ENSP00000497768.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

transmembrane transport

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000275227
Coding exons: 14
Length: 29193
Individuals with no LoFs: 125655
Homozygous LoFs: 0
Heterozygous LoFs: 91
Defined: 125746
p: 0.000362

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.385	255	238	1.07	0.0000116	2903
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00040	0.00038	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0012	0.0010	notable
Finnish	0.00072	0.00069	rare
European (Non-Finnish)	0.00020	0.00019	rare
South Asian	0.00059	0.00059	rare
Other	0.00057	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: -0.11
RVIS percentile EVS: 45.49

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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