RBPMS

Summary

RBPMS (RNA binding protein, mRNA processing factor, HGNC:19097) is a protein-coding gene on chromosome 8p12, encoding RNA-binding protein with multiple splicing (Q93062). RNA binding protein that mediates the regulation of pre-mRNA alternative splicing (AS).

This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 11030 — RefSeq curated summary.

At a glance

• GWAS associations: 36
• Clinical variants (ClinVar): 36 total
• MANE Select transcript: NM_001008710

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19097
Approved symbol	RBPMS
Name	RNA binding protein, mRNA processing factor
Location	8p12
Locus type	gene with protein product
Status	Approved
Aliases	HERMES
Ensembl gene	ENSG00000157110
Ensembl biotype	protein_coding
OMIM	601558
Entrez	11030

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 14 protein_coding, 9 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000287771, ENST00000320203, ENST00000339877, ENST00000397323, ENST00000517860, ENST00000519359, ENST00000519647, ENST00000519657, ENST00000520161, ENST00000520191, ENST00000520916, ENST00000520971, ENST00000521370, ENST00000521816, ENST00000522099, ENST00000522694, ENST00000522708, ENST00000523104, ENST00000523115, ENST00000523717, ENST00000903177, ENST00000903178, ENST00000903179, ENST00000903180

RefSeq mRNA: 4 — MANE Select: NM_001008710 NM_001008710, NM_001008711, NM_001008712, NM_006867

CCDS: CCDS34875, CCDS34876, CCDS6077

Canonical transcript exons

ENST00000397323 — 9 exons

Exon	Start	End
ENSE00001158815	30566257	30566360
ENSE00002102832	30384541	30385158
ENSE00002123633	30570637	30572256
ENSE00003495146	30474779	30474856
ENSE00003516534	30544494	30544624
ENSE00003569425	30558887	30558956
ENSE00003570675	30477799	30477837
ENSE00003578262	30504286	30504436
ENSE00003680773	30479315	30479377

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 99.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 96.5589 / max 1412.9283, expressed in 1385 samples.

FANTOM5 promoters (19 alternative TSS)

Promoter ID	TPM avg	Samples expressed
88301	73.6299	1368
88302	4.9093	1221
88300	4.1001	1208
88299	3.6523	1028
88309	2.1208	1046
88298	1.4190	851
88303	1.2653	537
88307	1.2020	863
88308	0.9156	589
205146	0.8887	578

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
popliteal artery	UBERON:0002250	99.65	gold quality
tibial artery	UBERON:0007610	99.65	gold quality
lower esophagus	UBERON:0013473	99.64	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.64	gold quality
mucosa of stomach	UBERON:0001199	99.57	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.57	gold quality
aorta	UBERON:0000947	99.54	gold quality
right coronary artery	UBERON:0001625	99.50	gold quality
ascending aorta	UBERON:0001496	99.42	gold quality
thoracic aorta	UBERON:0001515	99.42	gold quality
left coronary artery	UBERON:0001626	99.42	gold quality
descending thoracic aorta	UBERON:0002345	99.39	gold quality
metanephros cortex	UBERON:0010533	99.38	gold quality
body of uterus	UBERON:0009853	99.36	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.36	gold quality
coronary artery	UBERON:0001621	99.33	gold quality
endocervix	UBERON:0000458	99.31	gold quality
right ovary	UBERON:0002118	99.25	gold quality
right lobe of thyroid gland	UBERON:0001119	99.13	gold quality
left uterine tube	UBERON:0001303	99.11	gold quality
left lobe of thyroid gland	UBERON:0001120	99.10	gold quality
left ovary	UBERON:0002119	99.09	gold quality
colonic epithelium	UBERON:0000397	98.98	gold quality
omental fat pad	UBERON:0010414	98.96	gold quality
peritoneum	UBERON:0002358	98.93	gold quality
thyroid gland	UBERON:0002046	98.91	gold quality
adipose tissue of abdominal region	UBERON:0007808	98.86	gold quality
blood vessel layer	UBERON:0004797	98.81	gold quality
subcutaneous adipose tissue	UBERON:0002190	98.70	gold quality
right uterine tube	UBERON:0001302	98.65	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	5653.07
E-HCAD-30	yes	723.61
E-MTAB-9067	yes	141.51
E-MTAB-6701	yes	39.76
E-CURD-119	yes	38.06
E-GEOD-135922	yes	33.61
E-MTAB-8410	yes	22.20
E-ANND-3	yes	19.67
E-HCAD-35	yes	12.54
E-GEOD-84465	yes	8.00
E-CURD-46	yes	7.97
E-MTAB-9388	yes	6.83

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, GLI1

miRNA regulators (miRDB)

69 targeting RBPMS, 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-MIR-513B-5P	99.99	69.96	2150
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-489-3P	99.80	66.46	839
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-891B	99.59	69.81	1083
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-19A-5P	99.36	66.93	1675
HSA-MIR-19B-1-5P	99.36	67.07	1669
HSA-MIR-19B-2-5P	99.36	67.07	1669

Literature-anchored findings (GeneRIF, showing 16)

• RBPMS1 is a critical repressor of AP-1 signaling and RBPMS1 activation may be a useful strategy for cancer treatment. (PMID:25281386)
• Data indicate RNA Binding Protein with Multiple Splicing (RBPMS), Regulator of Chromosome Condensation and POZ Domain Containing Protein 1 (RCBTB1), and Zinc Finger protein 608 (ZNF608) as miR-21-3p target genes. (PMID:27166999)
• ERG is recruited to mRNAs via interaction with the RNA-binding protein RBPMS, and it promotes mRNA decay by binding CNOT2, a component of the CCR4-NOT deadenylation complex. (PMID:27273514)
• Study indicates that the RNA binding increases the stability of RNA-recognition motif (RRM) in RBPMS domain, but residue mutations of RRM domain induce the fluctuation of complex systems through weakening of hydrogen bonds, conformational change or loss of binding affinity. (PMID:27592836)
• Conserved binding of GCAC motifs by MEC-8, couch potato, and the RBPMS protein family has been reported. (PMID:28003515)
• observation of a strong in vivo erythropoietic effect for RBPMS but not for GTF2E2, supporting the statistical fine-mapping at this locus and demonstrating that RBPMS is a regulator of erythropoiesis (PMID:28017375)
• The possible involvement of the GC box 1 at position - 54 in transcriptional regulation of Rbpms was corroborated by EMSA, which showed formation of a DNA-protein complex in the presence of the oligonucleotide corresponding to this Sp1-binding site. (PMID:29423656)
• the key role of miR-21-3p in CRC (PMID:29542167)
• RBPMS silencing confers resistance to MM cells. (PMID:29743723)
• Reduced RBPMS Levels Promote Cell Proliferation and Decrease Cisplatin Sensitivity in Ovarian Cancer Cells. (PMID:35008958)
• Loss of RBPMS in ovarian cancer compromises the efficacy of EGFR inhibitor gefitinib through activating HER2/AKT/mTOR/P70S6K signaling. (PMID:36423381)
• Increased Expression of the RBPMS Splice Variants Inhibits Cell Proliferation in Ovarian Cancer Cells. (PMID:36499073)
• mRNA translational specialization by RBPMS presets the competence for cardiac commitment in hESCs. (PMID:36989351)
• Cell-type specific regulator RBPMS switches alternative splicing via higher-order oligomerization and heterotypic interactions with other splicing regulators. (PMID:37548402)
• RBPMS regulates cardiomyocyte contraction and cardiac function through RNA alternative splicing. (PMID:37890031)
• SH3RF2 contributes to cisplatin resistance in ovarian cancer cells by promoting RBPMS degradation. (PMID:38195842)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbpms	ENSDARG00000099396
mus_musculus	Rbpms	ENSMUSG00000031586
rattus_norvegicus	Rbpms	ENSRNOG00000013328
caenorhabditis_elegans	mec-8	WBGENE00003172

Paralogs (1): RBPMS2 (ENSG00000166831)

Protein

Protein identifiers

RNA-binding protein with multiple splicing — Q93062 (reviewed: Q93062)

Alternative names: Heart and RRM expressed sequence

All UniProt accessions (7): Q93062, B4E3T4, E5RFP4, E5RJ31, E5RJD7, H0YBU9, H0YC46

UniProt curated annotations — full annotation on UniProt →

Function. RNA binding protein that mediates the regulation of pre-mRNA alternative splicing (AS). Acts either as activator (FLNB, HSPG2, LIPA1, MYOCD, PTPRF and PPFIBP1) or repressor (TPM1, ACTN1, ITGA7, PIEZO1, LSM14B, MBNL1 and MBML2) of splicing events on specific pre-mRNA targets. Together with RNA binding proteins RBFOX2 and MBNL1/2, activates a splicing program associated with differentiated contractile vascular smooth muscle cells (SMC) by regulating AS of numerous pre-mRNA involved in actin cytoskeleton and focal adhesion machineries, suggesting a role in promoting a cell differentiated state. Binds to introns, exons and 3’-UTR associated with tandem CAC trinucleotide motifs separated by a variable spacer region, at a minimum as a dimer. The minimal length of RNA required for RBPMS-binding tandem CAC motifs is 15 nt, with spacing ranging from 1 to 9 nt. Can also bind to CA dinucleotide repeats. Mediates repression of TPM1 exon 3 by binding to CAC tandem repeats in the flanking intronic regions, followed by higher-order oligomerization and heterotypic interactions with other splicing regulators including MBNL1 and RBFOX2, which prevents assembly of ATP-dependent splicing complexes. Acts as a regulator of pre-mRNA alternative splicing (AS). Binds mRNA. Regulates AS of ACTN1, FLNB, although with lower efficiency than isoform A / RBPMSA. Acts as coactivator of SMAD transcriptional activity in a TGFB1-dependent manner, possibly through increased phosphorylation of SMAD2 and SMAD3 at the C-terminal SSXS regions and promotion of the nuclear accumulation of SMAD proteins.

Subunit / interactions. Homodimer; each protein chain binds one RNA molecule via the external surface of the homodimer. Interacts with RNA binding proteins MBNL1, RBFOX2, RBM4 and RBM14; the interaction allows cooperative assembly of stable cell-specific alternative splicing regulatory complexes. Interacts with SMAD2, SMAD3 and SMAD4; the interactions are direct.

Subcellular location. Nucleus. Cytoplasm. Stress granule. P-body.

Tissue specificity. Ubiquitously expressed, at various levels depending on the isoform and the tissue. Strongly expressed in the heart, prostate, small intestine, large intestine, and ovary; moderately expressed in the placenta, lung, liver, kidney, pancreas, and testis; and poorly expressed in the skeletal muscle, spleen, thymus and peripheral leukocytes.

Domain organisation. The RNA recognition motif (RRM) domain mediates homodimerization. The RRM domain also mediates binding to tandem CAC trinucleotide motif-containing single-stranded RNA. The RRM domain is also necessary for interaction with SMAD4 and for TGFB1/Smad-mediated transactivation activity. The C-terminal 20 amino acids region, without homology to other proteins, is essential for higher-order oligomerization. Also essential for RBPMS cooperative RNA binding. The C-terminal is required for TGFB1/Smad-mediated transactivation activity.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (5)

UniProt ID	Names	Canonical?
Q93062-1	A	yes
Q93062-2	B
Q93062-3	C
Q93062-4	D
Q93062-5	E

RefSeq proteins (4): NP_001008710, NP_001008711, NP_001008712, NP_006858 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR035979	RBD_domain_sf	Homologous_superfamily

Pfam: PF00076

UniProt features (28 total): mutagenesis site 7, strand 6, splice variant 4, helix 3, modified residue 3, site 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5CYJ	X-RAY DIFFRACTION	1.79
5DET	X-RAY DIFFRACTION	1.95

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q93062-F1	69.30	0.39

Functional residue map

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

Catalytic / active sites (2): 27 (interaction with rna); 61 (interaction with rna)

Post-translational modifications (3): 1, 12, 113

Mutagenesis-validated functional residues (7):

Position	Phenotype
27	abolishes rna binding.
36–38	impairs dimerization and rna binding.
65	abolishes rna binding.
97	abolishes rna binding; when associated with a-100.
100	abolishes rna binding; when associated with a-97.
100	abolishes rna binding.
103–104	abolishes rna binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 259 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, VERHAAK_AML_WITH_NPM1_MUTATED_DN, GGTGTGT_MIR329, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, GOZGIT_ESR1_TARGETS_DN, HSIAO_HOUSEKEEPING_GENES, TGACCTY_ERR1_Q2, TOMLINS_PROSTATE_CANCER_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GRAHAM_CML_QUIESCENT_VS_NORMAL_QUIESCENT_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_SUSTAINDED_IN_ERYTHROCYTE_UP, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, BROWNE_HCMV_INFECTION_48HR_DN

GO Biological Process (6): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), RNA processing (GO:0006396), response to oxidative stress (GO:0006979), SMAD protein signal transduction (GO:0060395), protein-containing complex assembly (GO:0065003), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (12): transcription coactivator activity (GO:0003713), RNA binding (GO:0003723), mRNA binding (GO:0003729), mRNA 3’-UTR binding (GO:0003730), protein homodimerization activity (GO:0042803), molecular adaptor activity (GO:0060090), pre-mRNA intronic binding (GO:0097157), mRNA CDS binding (GO:1990715), nucleic acid binding (GO:0003676), protein binding (GO:0005515), pre-mRNA binding (GO:0036002), identical protein binding (GO:0042802)

GO Cellular Component (6): P-body (GO:0000932), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoplasmic stress granule (GO:0010494)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	3
cellular anatomical structure	3
RNA binding	2
mRNA binding	2
cytoplasmic ribonucleoprotein granule	2
alternative mRNA splicing, via spliceosome	1
regulation of mRNA splicing, via spliceosome	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
response to stress	1
cell surface receptor protein serine/threonine kinase signaling pathway	1
intracellular signaling cassette	1
cellular component assembly	1
protein-containing complex organization	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
nucleic acid binding	1
identical protein binding	1
protein dimerization activity	1
molecular_function	1
pre-mRNA binding	1
protein binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1164 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBPMS	QKI	Q96PU8	850
RBPMS	RBFOX2	O43251	809
RBPMS	DCTN6	O00399	767
RBPMS	RBFOX1	Q9NWB1	715
RBPMS	ATN1	P54259	712
RBPMS	POU4F1	Q01851	712
RBPMS	ATXN1	P54253	649
RBPMS	BCAS1	O75363	634
RBPMS	OPN4	Q9UHM6	631
RBPMS	POU4F2	Q12837	621
RBPMS	SPTA1	P02549	553
RBPMS	ACTG1	P02571	549
RBPMS	ATP5F1C	P36542	547
RBPMS	UBQLN4	Q9NRR5	547
RBPMS	CALB2	P22676	539
RBPMS	SNCG	O76070	539

IntAct

582 interactions, top by confidence:

A	B	Type	Score
RBPMS	PITX1	psi-mi:“MI:0915”(physical association)	0.800
RBPMS	GCM2	psi-mi:“MI:0915”(physical association)	0.740
RBPMS	TUSC2	psi-mi:“MI:0915”(physical association)	0.740
RBPMS	FOXP3	psi-mi:“MI:0915”(physical association)	0.740
TUSC2	RBPMS	psi-mi:“MI:0915”(physical association)	0.740
RBPMS	ATXN1	psi-mi:“MI:0915”(physical association)	0.700
RBPMS	QKI	psi-mi:“MI:0915”(physical association)	0.700
PHF1	RBPMS	psi-mi:“MI:0915”(physical association)	0.670
RBPMS	CCNK	psi-mi:“MI:0915”(physical association)	0.670
RHOBTB3	RBPMS	psi-mi:“MI:0915”(physical association)	0.670
VENTX	RBPMS	psi-mi:“MI:0915”(physical association)	0.670
RBPMS	CSN3	psi-mi:“MI:0915”(physical association)	0.670
OTX1	RBPMS	psi-mi:“MI:0915”(physical association)	0.670
RBPMS	PIN1	psi-mi:“MI:0915”(physical association)	0.670
RBPMS	DAZAP2	psi-mi:“MI:0915”(physical association)	0.670
RBPMS	DTX2	psi-mi:“MI:0915”(physical association)	0.670
NR1D2	RBPMS	psi-mi:“MI:0915”(physical association)	0.670
RBPMS	C1orf94	psi-mi:“MI:0915”(physical association)	0.670
SPATA8	RBPMS	psi-mi:“MI:0915”(physical association)	0.670
DAZAP2	RBPMS	psi-mi:“MI:0915”(physical association)	0.670
RHOXF2	RBPMS	psi-mi:“MI:0915”(physical association)	0.670
RBPMS	POM121	psi-mi:“MI:0915”(physical association)	0.670
ZC3H10	RBPMS	psi-mi:“MI:0915”(physical association)	0.670
RBPMS	SPMIP9	psi-mi:“MI:0915”(physical association)	0.670
ZNF488	RBPMS	psi-mi:“MI:0915”(physical association)	0.670
STRBP	RBPMS	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (493): RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid), RBPMS (Two-hybrid)

ESM2 similar proteins: A0A8I6G705, A1L3K1, B5DFF2, B5DFI8, G3MWR8, O19048, O19137, O88508, P06730, P29338, P57721, P57722, P60335, Q12800, Q13888, Q15365, Q15366, Q16763, Q1LZ53, Q1RML1, Q28D01, Q2TBV5, Q4W5Z4, Q5E9A3, Q5FVR7, Q5NVP9, Q5TDH0, Q61990, Q6AYU1, Q6DH13, Q6P1K8, Q6ZRY4, Q7RTP6, Q8C6G8, Q8CCI5, Q8CJ19, Q8IY57, Q8N488, Q8VC52, Q921J4

Diamond homologs: A0A8I6G705, A1A6K6, B5DFF2, F4HWF9, G7ID19, Q01617, Q12926, Q28GD4, Q5R9Z6, Q60899, Q6DH13, Q6JB11, Q6ZRY4, Q8CH84, Q8H0P8, Q8VC52, Q91903, Q93062, Q9W6I1, Q9WVB0, Q9YGP5, O74452, P34761, Q15020, Q4WJT7, Q5REG1, P08579, Q8LGD5, Q9LS54, P09012, Q06AA4, Q07655, Q2KIR1, Q62189, Q9CQI7, B8AM21, P43332, P45429, Q10MR0, Q6JB10

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NUP98-HOXA9	“up-regulates quantity by expression”	RBPMS	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 127 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
regulation of circadian rhythm	6	15.0×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3474 predictions. Top by Δscore:

Variant	Effect	Δscore
8:30385150:G:GT	donor_gain	1.0000
8:30385156:G:GT	donor_gain	1.0000
8:30474773:TTCCA:T	acceptor_loss	1.0000
8:30474774:TCCA:T	acceptor_loss	1.0000
8:30474775:CCA:C	acceptor_loss	1.0000
8:30474776:CA:C	acceptor_loss	1.0000
8:30474777:A:AC	acceptor_loss	1.0000
8:30474852:TTAAG:T	donor_loss	1.0000
8:30474853:TAAG:T	donor_loss	1.0000
8:30474854:AAG:A	donor_loss	1.0000
8:30474855:AGGTA:A	donor_loss	1.0000
8:30474856:GGT:G	donor_loss	1.0000
8:30474857:GTAC:G	donor_loss	1.0000
8:30474858:T:A	donor_loss	1.0000
8:30477793:TTTCA:T	acceptor_loss	1.0000
8:30477794:TTCA:T	acceptor_loss	1.0000
8:30477795:TCAGG:T	acceptor_loss	1.0000
8:30477796:CAG:C	acceptor_loss	1.0000
8:30477797:A:AG	acceptor_gain	1.0000
8:30477797:A:T	acceptor_loss	1.0000
8:30477797:AG:A	acceptor_gain	1.0000
8:30477798:G:GG	acceptor_gain	1.0000
8:30477798:GG:G	acceptor_gain	1.0000
8:30477834:ACAGG:A	acceptor_loss	1.0000
8:30477837:GGTAA:G	acceptor_loss	1.0000
8:30477838:G:A	donor_loss	1.0000
8:30477838:G:GC	acceptor_loss	1.0000
8:30479374:GAAT:G	donor_gain	1.0000
8:30479376:AT:A	donor_gain	1.0000
8:30479376:ATGTA:A	donor_loss	1.0000

AlphaMissense

1265 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:30474783:G:C	R24P	1.000
8:30474785:A:G	T25A	1.000
8:30474786:C:T	T25I	1.000
8:30474789:T:A	L26Q	1.000
8:30474789:T:C	L26P	1.000
8:30474789:T:G	L26R	1.000
8:30474791:T:A	F27I	1.000
8:30474791:T:C	F27L	1.000
8:30474791:T:G	F27V	1.000
8:30474792:T:C	F27S	1.000
8:30474792:T:G	F27C	1.000
8:30474793:T:A	F27L	1.000
8:30474793:T:G	F27L	1.000
8:30474794:G:T	V28F	1.000
8:30474795:T:A	V28D	1.000
8:30474797:A:C	S29R	1.000
8:30474798:G:T	S29I	1.000
8:30474799:T:A	S29R	1.000
8:30474799:T:G	S29R	1.000
8:30474800:G:C	G30R	1.000
8:30474800:G:T	G30C	1.000
8:30474801:G:A	G30D	1.000
8:30474801:G:T	G30V	1.000
8:30474804:T:A	L31H	1.000
8:30474804:T:C	L31P	1.000
8:30474804:T:G	L31R	1.000
8:30474806:C:A	P32T	1.000
8:30474806:C:T	P32S	1.000
8:30474807:C:A	P32H	1.000
8:30474807:C:G	P32R	1.000

dbSNP variants (sampled 300 via entrez): RS1000020676 (8:30556798 G>A), RS1000034051 (8:30512721 G>A), RS1000056607 (8:30417812 G>A), RS1000068424 (8:30518090 C>T), RS1000068754 (8:30458989 G>A), RS1000087464 (8:30562054 G>A), RS1000114748 (8:30529219 GAA>G,GA,GAAA), RS1000126158 (8:30522744 T>C), RS1000177752 (8:30478949 C>T), RS1000195049 (8:30567292 C>G,T), RS1000196176 (8:30412536 T>C), RS1000204997 (8:30567102 C>A,G), RS1000209258 (8:30439043 C>T), RS1000212997 (8:30394702 CAG>C), RS1000270720 (8:30522872 A>G)

Disease associations

OMIM: gene MIM:601558 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

36 associations (top):

Study	Trait	p-value
GCST001354_2	Heart rate variability traits	4.000000e-06
GCST003985_22	Breast size	1.000000e-06
GCST004004_11	Mean corpuscular volume	1.000000e-10
GCST004006_2	Mean corpuscular hemoglobin	5.000000e-07
GCST004602_66	Mean corpuscular volume	1.000000e-12
GCST004603_74	Platelet count	6.000000e-10
GCST004607_166	Plateletcrit	5.000000e-14
GCST004613_117	Sum neutrophil eosinophil counts	4.000000e-13
GCST004614_46	Granulocyte count	1.000000e-12
GCST004620_14	Sum basophil neutrophil counts	6.000000e-12
GCST004626_109	Myeloid white cell count	8.000000e-13
GCST004629_123	Neutrophil count	4.000000e-12
GCST004630_269	Mean corpuscular hemoglobin	3.000000e-12
GCST004632_61	Lymphocyte percentage of white cells	3.000000e-11
GCST006011_73	Mean corpuscular volume	3.000000e-08
GCST006628_59	Systolic blood pressure	5.000000e-11
GCST008062_15	Blood urea nitrogen levels	6.000000e-11
GCST009066_39	Mosaic loss of chromosome Y (Y chromosome dosage)	5.000000e-08
GCST009067_30	Mosaic loss of chromosome Y (Y chromosome dosage)	3.000000e-30
GCST009263_7	Total grey matter volume	9.000000e-06
GCST009375_12	Mosaic loss of chromosome Y (Y chromosome dosage)	1.000000e-11
GCST010320_55	PR interval	8.000000e-08
GCST010321_12	PR interval	2.000000e-08
GCST90002381_370	Eosinophil count	2.000000e-09
GCST90002389_174	Lymphocyte percentage of white cells	1.000000e-16
GCST90002390_603	Mean corpuscular hemoglobin	3.000000e-36
GCST90002392_575	Mean corpuscular volume	8.000000e-39
GCST90002393_567	Monocyte count	6.000000e-13
GCST90002396_368	Mean reticulocyte volume	5.000000e-27
GCST90002397_325	Mean spheric corpuscular volume	3.000000e-26

EFO canonical traits (16, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0004309	platelet count
EFO:0007985	platelet crit
EFO:0004833	neutrophil count
EFO:0004842	eosinophil count
EFO:0007987	granulocyte count
EFO:0005090	basophil count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0006335	systolic blood pressure
EFO:0007783	mosaic loss of chromosome Y measurement
EFO:0005420	grey matter volume measurement
EFO:0004462	PR interval
EFO:0005091	monocyte count
EFO:0010701	mean reticulocyte volume
EFO:0007990	neutrophil percentage of leukocytes
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	decreases expression, increases expression, affects cotreatment	4
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression, decreases methylation	4
bisphenol A	affects cotreatment, increases methylation, decreases methylation, increases expression	2
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
entinostat	affects cotreatment, increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Tretinoin	decreases expression, increases expression	2
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	increases expression	1
terbufos	increases methylation	1
trichostatin A	increases expression	1
arsenite	increases methylation	1
o,p’-DDT	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
2,3-dimethoxy-1,4-naphthoquinone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	decreases expression	1
Amiodarone	increases expression	1
Antimony	increases expression	1
Antimony Potassium Tartrate	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2DJ	Abcam HeLa RBPMS KO	Cancer cell line	Female

Clinical trials (associated diseases)

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