BST1

Summary

BST1 (bone marrow stromal cell antigen 1, HGNC:1118) is a protein-coding gene on chromosome 4p15.32, encoding ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 (Q10588). Catalyzes both the synthesis of cyclic ADP-beta-D-ribose (cADPR) from NAD(+), and its hydrolysis to ADP-D-ribose (ADPR).

Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population.

Source: NCBI Gene 683 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 82 total — 3 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_004334

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1118
Approved symbol	BST1
Name	bone marrow stromal cell antigen 1
Location	4p15.32
Locus type	gene with protein product
Status	Approved
Aliases	CD157, BST-1, cADPR2
Ensembl gene	ENSG00000109743
Ensembl biotype	protein_coding
OMIM	600387
Entrez	683

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay

ENST00000265016, ENST00000382346, ENST00000505785, ENST00000514445, ENST00000514989, ENST00000850863, ENST00000897441, ENST00000944759

RefSeq mRNA: 1 — MANE Select: NM_004334 NM_004334

CCDS: CCDS3416

Canonical transcript exons

ENST00000265016 — 9 exons

Exon	Start	End
ENSE00000705457	15722875	15722934
ENSE00000705552	15718907	15718993
ENSE00000705557	15715707	15715799
ENSE00000705562	15715285	15715361
ENSE00000705567	15711807	15711889
ENSE00000705573	15707511	15707646
ENSE00000705579	15705515	15705641
ENSE00000799219	15703065	15703332
ENSE00001868397	15731740	15732787

Expression profiles

Bgee: expression breadth ubiquitous, 185 present calls, max score 98.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.1251 / max 849.9626, expressed in 1090 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47000	6.9852	1020
47001	3.1829	557
46998	1.7003	475
46999	0.2567	156

Top tissues by expression

283 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	98.09	gold quality
mononuclear cell	CL:0000842	97.73	gold quality
leukocyte	CL:0000738	97.68	gold quality
granulocyte	CL:0000094	95.57	gold quality
bone marrow	UBERON:0002371	94.12	gold quality
blood	UBERON:0000178	94.08	gold quality
bone marrow cell	CL:0002092	91.51	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.93	gold quality
duodenum	UBERON:0002114	87.49	gold quality
gall bladder	UBERON:0002110	87.28	gold quality
stromal cell of endometrium	CL:0002255	87.24	gold quality
trabecular bone tissue	UBERON:0002483	86.70	gold quality
omental fat pad	UBERON:0010414	86.40	gold quality
peritoneum	UBERON:0002358	86.34	gold quality
jejunal mucosa	UBERON:0000399	86.06	gold quality
adipose tissue of abdominal region	UBERON:0007808	85.40	gold quality
right atrium auricular region	UBERON:0006631	84.30	gold quality
cardiac atrium	UBERON:0002081	82.93	gold quality
right coronary artery	UBERON:0001625	82.67	gold quality
tibial artery	UBERON:0007610	81.37	gold quality
spleen	UBERON:0002106	81.33	gold quality
popliteal artery	UBERON:0002250	81.33	gold quality
left coronary artery	UBERON:0001626	80.94	gold quality
aorta	UBERON:0000947	80.60	gold quality
right lung	UBERON:0002167	80.49	gold quality
ascending aorta	UBERON:0001496	80.24	gold quality
subcutaneous adipose tissue	UBERON:0002190	80.22	gold quality
endocervix	UBERON:0000458	80.12	gold quality
rectum	UBERON:0001052	80.09	gold quality
thoracic aorta	UBERON:0001515	80.06	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	18.12
E-MTAB-9801	yes	7.25
E-HCAD-13	yes	7.12
E-ANND-3	yes	5.50

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB1

miRNA regulators (miRDB)

26 targeting BST1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-5571-5P	99.49	66.99	1764
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-5000-3P	98.79	65.63	1251
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-599	98.32	66.99	1037
HSA-MIR-15B-3P	97.85	66.68	974
HSA-MIR-592	96.59	67.59	817

Literature-anchored findings (GeneRIF, showing 36)

• crystal structures of the extracellular region of human BST-1 at atomic resolution in the free form and in complexes with five substrate analogues: nicotinamide, NMN, ATPgammaS, ethenoNADP, and ethenoNAD (PMID:11866528)
• CD157 molecule displays two distinct domains in its extracellular component. The first is implicated in the enzymic activities of the molecule and the second features adhesion/signalling properties [review] (PMID:12415565)
• Deficient in paroxysmal nocturnal hemoglobinemia; crucial to regulation of innate immunity during inflammation. (PMID:15328157)
• The results confirm that CD157 physically interacts with CD11b/CD18 complex in human neutrophils (PMID:18211745)
• Results show that CD38 and CD157 are expressed constitutively by corneal cells: CD38 appears as a 45-kDa monomer, while CD157 is a 42- to 45-kDa doublet. (PMID:19052657)
• CD157 plays a pivotal role in the control of ovarian cancer cell migration and peritoneal invasion, and it may be clinically useful as a prognostic tool and therapeutic target. (PMID:20639476)
• PARK16, PARK8, and PARK1 loci but not BST1 are found to be associated with Parkinson’s disease. (PMID:20697102)
• found converging evidence of association with Parkinson’s disease on 12q24 (rs4964469, combined P = 2.4 x 10(-7)) and confirmed the association on 4p15/BST1 (rs4698412, combined P = 1.8 x 10(-6)), previously reported in Japanese data (PMID:21084426)
• Direct replication of single nucleotide polymorphisms (SNPs) within SNCA and BST1 confirmed these two genes to be associated with the Parkinson’s Disease in the Netherlands. (PMID:21248740)
• The CD157-integrin partnership provides optimal adhesion and transmigration of human monocytes. (PMID:21478153)
• The SNPs investigated in the BST1, PARK15 and PARK9 genes associated with PD susceptibility are not associated with PD in the northern Han Chinese population. (PMID:22490479)
• Findings implicate CD157 in the progression of EOC to metastatic disease and suggest that CD157 may represent a valuable therapeutic target. (PMID:22916288)
• BST1 SNPs rs11931532, rs12645693, & rs11724635 did not correlate with sporadic PD. The relationship of rs11724635 & sporadic PD had borderline significance. Smoking or caffeine intake did not correlate with SNP rs11724635 affecting sporadic PD. (PMID:23026536)
• This study confirmed the associations of BST1 with parkinson disease susceptibility and fail to show significant associations of alzheimer disease genome-wide association study (GWAS) top hits with PD susceptibility in a Korean population. (PMID:23820587)
• The results of this study showed that no causative mutation in the BST1 gene in patients with Parkinson’s disease. (PMID:23827523)
• The results of this study indicated that the SNCA and BST1 SNPs generally increase the risk of developing PD and that SNCA rs11931074 in particular is associated with a higher risk of parkinson disease with family history. (PMID:23853107)
• BST1 rs11724635 polymorphism can interact with well water drinking to increase the risk of Parkinson’s disease in a Taiwanese population. (PMID:24342025)
• A ligand-receptor complex SCRG1/BST1 axis facilitate mesenchymal stem cells migration, preserve OCT4 and CD271 expression, self-renewal and osteogenic differentiation. (PMID:24413464)
• Novel SCRG1/BST1 axis regulates self-renewal, migration, and osteogenic differentiation potential in mesenchymal stem cells. (PMID:24413464)
• Autism and with features of regression-previously acquired speech lost in the second year of life. The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. (PMID:24634087)
• These findings indicate a central role of CD157 in cell-extracellular matrix interactions and make CD157 an attractive therapeutic target in inflammation and cancer. (PMID:24753259)
• These results demonstrate for the first time that CD157 plays a role as a neuro-regulator and suggest a potential role in pre-motor symptoms in Parkinson’s disease. (PMID:24795584)
• Studies indicate that vertebrate ADP-ribosyl cyclases (ARCs) Bst1 and CD38 with common gene structure of invertebrate ARC, suggesting the origin to the ancestor of bilaterian animals. (PMID:24896331)
• A pre-steady state and steady state kinetic analysis of the N-ribosyl hydrolase activity of hCD157. (PMID:25250980)
• the rs4698412 variant of BST-1 may increase the Parkinson disease susceptibility. [META-ANALYSIS] (PMID:25986899)
• Comparative phylogenetics indicate that exon 1b is a genomic innovation acquired during primate evolution, pointing to the importance of alternative splicing for CD157 function. (PMID:29162908)
• SNPs rs28532698 and rs4301112 in CD157 are not significantly associated with childhood autism spectrum disorder or the severity of the disease in a Chinese Han population. (PMID:29216786)
• BST1 rs4698412 allelic variant increases the risk of gait or balance deficits in patients with Parkinson’s disease. (PMID:30676692)
• Genome-Wide Meta-Analysis of Blood Pressure Response to beta1-Blockers: Results From ICAPS (International Consortium of Antihypertensive Pharmacogenomics Studies). (PMID:31423876)
• Diagnosis of paroxysmal nocturnal hemoglobinuria with flowcytometry panels including CD157: Data from the real world. (PMID:31571381)
• The Roles of CD38 and CD157 in the Solid Tumor Microenvironment and Cancer Immunotherapy. (PMID:31861847)
• Utility of FLAER and CD157 in a five-color single-tube high sensitivity assay, for diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH)-A standalone flow cytometry laboratory experience. (PMID:33058446)
• Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder. (PMID:33397775)
• Association of BST1 polymorphism with idiopathic restless legs syndrome in Chinese population. (PMID:33625657)
• CD157 signaling promotes survival of acute myeloid leukemia cells and modulates sensitivity to cytarabine through regulation of anti-apoptotic Mcl-1. (PMID:34707185)
• Genetic polymorphisms of bone marrow stromal cell antigen-1 (BST-1/CD157): implications for immune/inflammatory dysfunction in neuropsychiatric disorders. (PMID:37313401)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Bst1	ENSMUSG00000029082
rattus_norvegicus	Bst1	ENSRNOG00000003064

Paralogs (1): CD38 (ENSG00000004468)

Protein

Protein identifiers

ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 — Q10588 (reviewed: Q10588)

Alternative names: ADP-ribosyl cyclase 2, Bone marrow stromal cell antigen 1, Cyclic ADP-ribose hydrolase 2

All UniProt accessions (5): Q10588, A6NC48, H0Y8G4, H0Y984, H0Y9Q9

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes both the synthesis of cyclic ADP-beta-D-ribose (cADPR) from NAD(+), and its hydrolysis to ADP-D-ribose (ADPR). Cyclic ADPR is known to serve as an endogenous second messenger that elicits calcium release from intracellular stores, and thus regulates the mobilization of intracellular calcium. May be involved in pre-B-cell growth.

Subunit / interactions. Homodimer.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in various tissues including placenta, lung, liver and kidney.

Activity regulation. ADP-ribosyl cyclase and cADPR hydrolase activities are both activated by Zn(2+) or Mn(2+), and inhibited by Cu(2+), while Mg(2+) and Ca(2+) do not have any significant influence.

Similarity. Belongs to the ADP-ribosyl cyclase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q10588-1	1	yes
Q10588-2	2

RefSeq proteins (1): NP_004325* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003193	ADP-ribosyl_cyclase	Family

Pfam: PF02267

Catalyzed reactions (Rhea), 3 shown:

• NAD(+) + H2O = ADP-D-ribose + nicotinamide + H(+) (RHEA:16301)
• NAD(+) = cyclic ADP-beta-D-ribose + nicotinamide + H(+) (RHEA:38611)
• cyclic ADP-beta-D-ribose + H2O = ADP-D-ribose (RHEA:38615)

UniProt features (49 total): helix 16, strand 7, disulfide bond 5, glycosylation site 4, sequence variant 4, binding site 4, turn 3, signal peptide 1, chain 1, splice variant 1, propeptide 1, sequence conflict 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
1ISI	X-RAY DIFFRACTION	2.1
1ISJ	X-RAY DIFFRACTION	2.3
1ISH	X-RAY DIFFRACTION	2.4
1ISF	X-RAY DIFFRACTION	2.5
1ISG	X-RAY DIFFRACTION	2.6
1ISM	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q10588-F1	90.33	0.81

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 109; 109; 172; 210

Post-translational modifications (1): 293

Disulfide bonds (5): 51–67, 83–163, 144–157, 238–259, 271–280

Glycosylation sites (4): 148, 192, 66, 95

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-196807	Nicotinate metabolism
R-HSA-6798695	Neutrophil degranulation
R-HSA-1430728	Metabolism
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-196849	Metabolism of water-soluble vitamins and cofactors
R-HSA-196854	Metabolism of vitamins and cofactors
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 289 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_B_CELL_ACTIVATION, GOCC_SECRETORY_GRANULE, GOBP_B_CELL_PROLIFERATION, GOBP_SUPEROXIDE_METABOLIC_PROCESS, MODULE_308, GOBP_POSITIVE_REGULATION_OF_B_CELL_PROLIFERATION, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_LEUKOCYTE_CHEMOTAXIS

GO Biological Process (12): regulation of cell-matrix adhesion (GO:0001952), regulation of cellular extravasation (GO:0002691), humoral immune response (GO:0006959), signal transduction (GO:0007165), positive regulation of cell population proliferation (GO:0008284), positive regulation of B cell proliferation (GO:0030890), regulation of actin cytoskeleton organization (GO:0032956), regulation of inflammatory response (GO:0050727), regulation of calcium-mediated signaling (GO:0050848), regulation of neutrophil chemotaxis (GO:0090022), regulation of superoxide metabolic process (GO:0090322), regulation of integrin-mediated signaling pathway (GO:2001044)

GO Molecular Function (5): transferase activity (GO:0016740), phosphorus-oxygen lyase activity (GO:0016849), NAD+ nucleosidase activity, cyclic ADP-ribose generating (GO:0061809), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798)

GO Cellular Component (7): uropod (GO:0001931), extracellular region (GO:0005576), plasma membrane (GO:0005886), specific granule membrane (GO:0035579), extracellular exosome (GO:0070062), side of membrane (GO:0098552), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Post-translational protein modification	1
Metabolism of water-soluble vitamins and cofactors	1
Innate Immune System	1
Immune System	1
Metabolism of vitamins and cofactors	1
Metabolism	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
catalytic activity	2
membrane	2
cell-matrix adhesion	1
regulation of cell-substrate adhesion	1
regulation of leukocyte migration	1
cellular extravasation	1
immune response	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
regulation of B cell proliferation	1
B cell proliferation	1
positive regulation of lymphocyte proliferation	1
positive regulation of B cell activation	1
actin cytoskeleton organization	1
regulation of actin filament-based process	1
regulation of cytoskeleton organization	1
inflammatory response	1
regulation of defense response	1
regulation of response to external stimulus	1
calcium-mediated signaling	1
regulation of intracellular signal transduction	1
neutrophil chemotaxis	1
regulation of granulocyte chemotaxis	1
regulation of neutrophil migration	1
superoxide metabolic process	1
regulation of reactive oxygen species metabolic process	1
integrin-mediated signaling pathway	1
regulation of signal transduction	1
lyase activity	1
hydrolase activity, hydrolyzing N-glycosyl compounds	1
hydrolase activity	1
cell trailing edge	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

810 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BST1	SCRG1	O75711	741
BST1	NMNAT1	Q9HAN9	616
BST1	NAMPT	P43490	609
BST1	SLC12A8	A0AV02	605
BST1	SARM1	Q6SZW1	571
BST1	A0A2R8YFG2	A0A2R8YFG2	569
BST1	OXT	P01178	562
BST1	NAPRT	Q6XQN6	549
BST1	NMNAT2	Q9BZQ4	531
BST1	ITGB3	P05106	520
BST1	NMRK1	Q9NWW6	513
BST1	FCGR1A	P12314	476
BST1	IGHV4-38-2	P0DP08	468
BST1	CD9	P21926	463
BST1	NT5E	P21589	432
BST1	FCGR3A	P08637	432

IntAct

4 interactions, top by confidence:

A	B	Type	Score
LBP	BST1	psi-mi:“MI:0915”(physical association)	0.370
BST1	GXYLT2	psi-mi:“MI:0914”(association)	0.350
OR14J1	BST1	psi-mi:“MI:0914”(association)	0.350

BioGRID (15): BST1 (Co-crystal Structure), BST1 (Proximity Label-MS), ITGA7 (Affinity Capture-MS), DHODH (Affinity Capture-MS), PRSS21 (Affinity Capture-MS), POGLUT1 (Affinity Capture-MS), GXYLT2 (Affinity Capture-MS), ITGA8 (Affinity Capture-MS), TUBB3 (Affinity Capture-MS), GALNS (Affinity Capture-MS), PPCS (Affinity Capture-MS), BST1 (Affinity Capture-MS), ARSK (Affinity Capture-MS), HAPLN3 (Affinity Capture-MS), LBP (Two-hybrid)

ESM2 similar proteins: A3RM19, A4IFN2, A4UHQ3, A6NNL5, E1C762, O12165, O55611, O75489, P06025, P06501, P0DOF3, P11824, P15197, P16285, P23709, P24932, P29917, P36551, P49408, P84066, Q04350, Q08314, Q09110, Q0GBX9, Q0GBY4, Q0MQG6, Q0MQG7, Q0MQG8, Q10588, Q14BA6, Q24434, Q29498, Q42840, Q42946, Q4V7D2, Q5VYS4, Q66453, Q68667, Q68668, Q68669

Diamond homologs: P28907, P29241, P56528, Q10588, Q27312, Q5VAN0, Q63072, Q64244, Q64277, Q9MZ03

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
BST1	“up-regulates quantity”	“cyclic ADP-ribose”	“chemical modification”
BST1	“up-regulates quantity”	“nicotinic acid-adenine dinucleotide phosphate”	“chemical modification”
BST1	“down-regulates quantity”	NAD(+)	“chemical modification”
BST1	“down-regulates quantity”	NADP(+)	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

82 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	52
Likely benign	5
Benign	4

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
57509	GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1	Pathogenic
58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	Pathogenic
814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	Pathogenic

SpliceAI

1254 predictions. Top by Δscore:

Variant	Effect	Δscore
4:15703316:C:G	donor_gain	1.0000
4:15703330:GCG:G	donor_gain	1.0000
4:15707509:A:AG	acceptor_gain	1.0000
4:15707510:G:GG	acceptor_gain	1.0000
4:15715283:A:AG	acceptor_gain	1.0000
4:15715284:G:GG	acceptor_gain	1.0000
4:15715284:GT:G	acceptor_gain	1.0000
4:15718905:AG:A	acceptor_gain	1.0000
4:15718906:GG:G	acceptor_gain	1.0000
4:15722874:GACCA:G	acceptor_gain	1.0000
4:15722932:GTC:G	donor_gain	1.0000
4:15722935:G:GG	donor_gain	1.0000
4:15703103:G:T	donor_gain	0.9900
4:15703331:CGG:C	donor_loss	0.9900
4:15703332:GGTG:G	donor_loss	0.9900
4:15703333:G:GG	donor_gain	0.9900
4:15703334:T:C	donor_loss	0.9900
4:15703338:G:GT	donor_gain	0.9900
4:15703351:TGG:T	donor_gain	0.9900
4:15703358:G:T	donor_gain	0.9900
4:15705637:A:G	donor_gain	0.9900
4:15707510:GTC:G	acceptor_gain	0.9900
4:15707645:TGGT:T	donor_loss	0.9900
4:15707646:GGT:G	donor_loss	0.9900
4:15707647:G:GC	donor_loss	0.9900
4:15707648:T:TC	donor_loss	0.9900
4:15711885:TCCAG:T	donor_loss	0.9900
4:15711886:CCAGG:C	donor_loss	0.9900
4:15711887:CAG:C	donor_loss	0.9900
4:15711888:AGGT:A	donor_loss	0.9900

AlphaMissense

2078 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:15707622:T:A	W143R	0.991
4:15707622:T:C	W143R	0.991
4:15711871:G:C	W172C	0.991
4:15711871:G:T	W172C	0.991
4:15715297:A:C	S183R	0.991
4:15715299:T:A	S183R	0.991
4:15715299:T:G	S183R	0.991
4:15707522:G:C	W109C	0.990
4:15707522:G:T	W109C	0.990
4:15711824:T:A	C157S	0.989
4:15711825:G:C	C157S	0.989
4:15711881:T:C	S176P	0.988
4:15707624:G:C	W143C	0.987
4:15707624:G:T	W143C	0.987
4:15707625:T:A	C144S	0.987
4:15707626:G:C	C144S	0.987
4:15711824:T:C	C157R	0.987
4:15718951:T:C	L250P	0.986
4:15715322:T:C	L191P	0.985
4:15718914:T:A	C238S	0.984
4:15718915:G:C	C238S	0.984
4:15711869:T:A	W172R	0.983
4:15711869:T:C	W172R	0.983
4:15705539:G:C	W71C	0.982
4:15705539:G:T	W71C	0.982
4:15707625:T:C	C144R	0.982
4:15707520:T:A	W109R	0.981
4:15707520:T:C	W109R	0.981
4:15707627:T:G	C144W	0.981
4:15711826:C:G	C157W	0.981

dbSNP variants (sampled 300 via entrez): RS1000011921 (4:15755854 A>C,G), RS10000290 (4:15751676 A>G), RS1000081414 (4:15708670 C>G,T), RS1000094008 (4:15718550 G>A), RS1000098287 (4:15711582 A>G), RS10001565 (4:15720950 C>T), RS1000162543 (4:15713063 C>G), RS10002171 (4:15766129 C>T), RS1000231265 (4:15755527 A>G), RS10002394 (4:15766409 C>T), RS1000265981 (4:15752178 A>G,T), RS1000266688 (4:15723913 A>G), RS1000272270 (4:15745938 A>G), RS10003136 (4:15754677 G>A), RS1000372649 (4:15705811 T>G)

Disease associations

OMIM: gene MIM:600387 | disease phenotypes: MIM:213300, MIM:249000

GenCC curated gene-disease

Mondo (2): Joubert syndrome (MONDO:0018772), Meckel syndrome (MONDO:0018921)

Orphanet (2): Isolated Joubert syndrome (Orphanet:475), Meckel syndrome (Orphanet:564)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5169147 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs28404156	Efficacy	3	Beta blocking agents;selective	Hypertension

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs28404156	BST1	3	1.75	1	Beta blocking agents;selective

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
Aflatoxin B1	increases expression, increases methylation, decreases expression	3
bisphenol F	increases expression, affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
deoxynivalenol	decreases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
sulforaphane	increases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
cotylenin A	increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, decreases expression, increases expression	1
incobotulinumtoxinA	increases expression	1
bisphenol AF	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Troglitazone	decreases expression	1
Artesunate	increases response to substance	1
Acetaminophen	decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5148896	Binding	Inhibition of human CD157 expressed in expressed in Escherichia coli at 10 uM by spectrophotometer based microplate reader method relative to control	Orally Bioavailable Enzymatic Inhibitor of CD38, MK-0159, Protects against Ischemia/Reperfusion Injury in the Murine Heart. — J Med Chem

Clinical trials (associated diseases)

3 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00873678	Not specified	COMPLETED	Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)