SLCO1B3-SLCO1B7

SLCO1B3-SLCO1B7 readthrough

Basic information

Region (hg38): 12:20815674-21090245

Links

ENSG00000257046 ∙ NCBI:115072896 ∙ ∙ HGNC:54403 ∙ Uniprot:F5H094 ∙ 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 SLCO1B3-SLCO1B7 gene.

• Rotor syndrome (129 variants)
• not provided (64 variants)
• Inborn genetic diseases (50 variants)
• SLCO1B3-related condition (13 variants)
• not specified (9 variants)
• Gilbert syndrome (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLCO1B3-SLCO1B7 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			6	8	5	19
missense			88	10	7	105
nonsense						0
start loss						0
frameshift	1		8			9
inframe indel			1			1
splice donor/acceptor (+/-2bp)	1	2	7	3	1	14
splice region						0
non coding			33	2	45	80
Total	2	2	143	23	58

Highest pathogenic variant AF is 0.000132

Variants in SLCO1B3-SLCO1B7

This is a list of pathogenic ClinVar variants found in the SLCO1B3-SLCO1B7 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-20815710-AATATTCACTTGGTATCTG-A		Rotor syndrome	Benign (Nov 30, 2023)
12-20815731-GTTTA-G		Rotor syndrome	Benign (Nov 30, 2023)
12-20815742-G-A		not specified	Uncertain significance (Apr 11, 2023)
12-20815749-A-G		Rotor syndrome	Likely benign (Sep 14, 2023)
12-20815764-A-C		Rotor syndrome	Uncertain significance (Jan 13, 2018)
12-20815805-C-T		Rotor syndrome	Uncertain significance (Mar 29, 2023)
12-20815807-C-T		Rotor syndrome	Benign/Likely benign (Jul 26, 2023)
12-20815818-T-G		not specified	Uncertain significance (Jun 10, 2024)
12-20815821-A-C		Rotor syndrome	Uncertain significance (-)
12-20815894-C-T			Benign (Nov 12, 2018)
12-20815946-A-T			Benign (Nov 12, 2018)
12-20855040-G-A		not specified	Uncertain significance (Jan 29, 2024)
12-20855042-C-T		Rotor syndrome	Uncertain significance (Apr 27, 2017)
12-20855051-C-G		Rotor syndrome • SLCO1B3-related disorder	Benign/Likely benign (Nov 03, 2023)
12-20855073-G-A		not specified	Uncertain significance (Oct 26, 2022)
12-20855081-CATT-C		SLCO1B3-related disorder	Likely benign (Apr 17, 2024)
12-20855086-T-C		SLCO1B3-related disorder	Uncertain significance (Nov 21, 2022)
12-20855090-A-C		Rotor syndrome	Uncertain significance (Jan 13, 2018)
12-20855091-A-G		Rotor syndrome	Uncertain significance (Jan 12, 2018)
12-20855096-C-T		SLCO1B3-related disorder	Likely benign (Dec 20, 2022)
12-20855097-A-G		SLCO1B3-related disorder • Rotor syndrome	Uncertain significance (Dec 11, 2020)
12-20855111-AAGGAG-A		Rotor syndrome	Uncertain significance (Nov 03, 2021)
12-20855119-T-C		Rotor syndrome • not specified	Uncertain significance (Jul 19, 2023)
12-20855143-G-GT		Rotor syndrome	Uncertain significance (Oct 02, 2018)
12-20855146-T-TAATTG		Rotor syndrome • SLCO1B3-related disorder	Conflicting classifications of pathogenicity (Sep 15, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLCO1B3-SLCO1B7	protein_coding	protein_coding	ENST00000540229	16	274572

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.09e-25	0.0000685	124493	10	1236	125739	0.00497

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.13	436	374	1.17	0.0000178	4819
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00338	0.00335
Ashkenazi Jewish	0.00173	0.00169
East Asian	0.00115	0.00109
Finnish	0.0193	0.0191
European (Non-Finnish)	0.00577	0.00563
Middle Eastern	0.00115	0.00109
South Asian	0.00121	0.00111
Other	0.00776	0.00736

dbNSFP

Source: dbNSFP