SLCO1B7

solute carrier organic anion transporter family member 1B7 (putative), the group of Solute carrier organic anion transporter family

Basic information

Links

ENSG00000205754

∙ NCBI:338821 ∙ OMIM:619875 ∙ HGNC:32934 ∙ Uniprot:G3V0H7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLCO1B7 gene.

Inborn genetic diseases (28 variants)
not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
splice region						0
non coding			25 clinvar	3 clinvar	2 clinvar	30
Total	0	0	26	3	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLCO1B7	protein_coding	protein_coding	ENST00000421593	13	277007

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.81e-26	0.00000995	125405	2	325	125732	0.00130

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.962	357	309	1.15	0.0000149	4108
Missense in Polyphen		91	93.095	0.9775		1131
Synonymous	-1.85	133	109	1.23	0.00000549	1208
Loss of Function	-1.50	34	25.8	1.32	0.00000123	383

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00270	0.00268
Ashkenazi Jewish	0.00423	0.00408
East Asian	0.00101	0.000979
Finnish	0.000417	0.000416
European (Non-Finnish)	0.00126	0.00121
Middle Eastern	0.00101	0.000979
South Asian	0.00108	0.000980
Other	0.00356	0.00343

dbNSFP

Source: dbNSFP

Pathway: Bile secretion - Homo sapiens (human) (Consensus)

Intolerance Scores

loftool
rvis_EVS: 1.71
rvis_percentile_EVS: 96.47

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.112
ghis

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: Slco1b2
Phenotype: liver/biliary system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype;

Gene ontology

Biological process: bile acid and bile salt transport;sodium-independent organic anion transport;transmembrane transport
Cellular component: integral component of plasma membrane
Molecular function: bile acid transmembrane transporter activity;sodium-independent organic anion transmembrane transporter activity