SLCO1B3-SLCO1B7

protein-coding

SLCO1B3-SLCO1B7 readthrough

Gene summary

This locus represents naturally occurring readthrough transcription between the neighboring SLCO1B3 (solute carrier organic anion transporter family member 1B3) and SLCO1B7 (solute carrier organic anion transporter family member 1B7 (putative)) genes on chromosome 12. The readthrough transcript encodes a protein that shares sequence identity with both the upstream and downstream genes. [provided by RefSeq, Jun 2019]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:4U:109B:34

Top phenotype

Rotor syndrome

gnomAD constraint

pLI —, LoF o/e 1.12

Max pathogenic AF

—

Genomic locus

chr12:20,815,674-21,090,245

External References & Databases

Ensembl (ENSG00000257046)

NCBI Gene (115072896)

ClinVar (SLCO1B3-SLCO1B7)

Transcript & Mutation Effects

hg38 • Region Span ~274.6 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 SLCO1B3-SLCO1B7 variants in ClinVar

6 Conditions Cataloged

Rotor syndromeTotal: 129

not providedTotal: 64

Inborn genetic diseasesTotal: 50

SLCO1B3-related conditionTotal: 13

not specifiedTotal: 9

Gilbert syndromeTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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			6 clinvar	8 clinvar	5 clinvar	19
missense			88 clinvar	10 clinvar	7 clinvar	105
nonsense						0
start loss						0
frameshift	1 clinvar		8 clinvar			9
splice donor/acceptor (+/-2bp)	1 clinvar	2 clinvar	7 clinvar	3 clinvar	1 clinvar	14
Total	2	2	109	21	13	147

Highest pathogenic variant AF is 0.000131505

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001371097.1	RefSeq	NP_001358026.1	16	Standard
ENST00000381541.7	Ensembl	ENSP00000370952.3	14	Standard
ENST00000540229.1	Ensembl	ENSP00000441269.1	16	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000540229
Coding exons: 16
Length: 274572
Individuals with no LoFs: 124493
Homozygous LoFs: 10
Heterozygous LoFs: 1236
Defined: 125739
p: 0.00497

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.13	436	374	1.17	0.0000178	4819
Missense (PolyPhen)		149	128.36	1.1608		1668
Synonymous	-0.886	144	131	1.10	0.00000667	1409
Loss of Function	-0.615	36	32.2	1.12	0.00000142	465

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0014	0.0014	notable
Latino/Admixed American	0.0020	0.0017	notable
Ashkenazi Jewish	0.0017	0.0017	notable
East Asian	0.0012	0.0011	notable
Finnish	0.019	0.019	notable
European (Non-Finnish)	0.0058	0.0056	notable
South Asian	0.0012	0.0011	notable
Other	0.0078	0.0074	notable