RAVER1
gene geneOn this page
Also known as KIAA1978
Summary
RAVER1 (ribonucleoprotein, PTB binding 1, HGNC:30296) is a protein-coding gene on chromosome 19p13.2, encoding Ribonucleoprotein PTB-binding 1 (Q8IY67). Cooperates with PTBP1 to modulate regulated alternative splicing events.
Enables RNA binding activity. Predicted to be located in cytoplasm and nucleus.
Source: NCBI Gene 125950 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 152 total
- Druggable target: yes
- MANE Select transcript:
NM_133452
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30296 |
| Approved symbol | RAVER1 |
| Name | ribonucleoprotein, PTB binding 1 |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1978 |
| Ensembl gene | ENSG00000161847 |
| Ensembl biotype | protein_coding |
| OMIM | 609950 |
| Entrez | 125950 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 11 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000585935, ENST00000591969, ENST00000592208, ENST00000593136, ENST00000617231, ENST00000706673, ENST00000706674, ENST00000910893, ENST00000910894, ENST00000910898, ENST00000910900, ENST00000910901, ENST00000910904, ENST00000910905, ENST00000910906, ENST00000911330, ENST00000911331
RefSeq mRNA: 2 — MANE Select: NM_133452
NM_001366174, NM_133452
CCDS: CCDS45960
Canonical transcript exons
ENST00000617231 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001188023 | 10321048 | 10321259 |
| ENSE00001301420 | 10321531 | 10321618 |
| ENSE00001310430 | 10330460 | 10330526 |
| ENSE00001324128 | 10322645 | 10322739 |
| ENSE00002901311 | 10316212 | 10317600 |
| ENSE00003468546 | 10320655 | 10320951 |
| ENSE00003475821 | 10323145 | 10323274 |
| ENSE00003477210 | 10318229 | 10318372 |
| ENSE00003520343 | 10317690 | 10317773 |
| ENSE00003555338 | 10328642 | 10329111 |
| ENSE00003617008 | 10323375 | 10323566 |
| ENSE00003666897 | 10319166 | 10319240 |
| ENSE00003741834 | 10333289 | 10333529 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 91.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.9071 / max 732.1322, expressed in 1821 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179111 | 47.6942 | 1821 |
| 179110 | 0.2128 | 95 |
Top tissues by expression
133 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 91.15 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.78 | gold quality |
| blood | UBERON:0000178 | 89.33 | gold quality |
| transverse colon | UBERON:0001157 | 88.05 | gold quality |
| ventricular zone | UBERON:0003053 | 87.85 | gold quality |
| left uterine tube | UBERON:0001303 | 87.70 | gold quality |
| stromal cell of endometrium | CL:0002255 | 87.66 | gold quality |
| bone marrow cell | CL:0002092 | 87.64 | gold quality |
| right uterine tube | UBERON:0001302 | 87.62 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 87.35 | gold quality |
| small intestine | UBERON:0002108 | 87.14 | gold quality |
| right ovary | UBERON:0002118 | 87.00 | gold quality |
| body of uterus | UBERON:0009853 | 86.96 | gold quality |
| bone marrow | UBERON:0002371 | 86.38 | gold quality |
| spleen | UBERON:0002106 | 86.34 | gold quality |
| duodenum | UBERON:0002114 | 86.15 | gold quality |
| vermiform appendix | UBERON:0001154 | 85.96 | gold quality |
| left ovary | UBERON:0002119 | 85.93 | gold quality |
| endocervix | UBERON:0000458 | 85.80 | gold quality |
| ectocervix | UBERON:0012249 | 85.74 | gold quality |
| ovary | UBERON:0000992 | 85.47 | gold quality |
| colon | UBERON:0001155 | 85.30 | gold quality |
| right coronary artery | UBERON:0001625 | 85.16 | gold quality |
| leukocyte | CL:0000738 | 85.13 | gold quality |
| intestine | UBERON:0000160 | 85.11 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 85.09 | gold quality |
| body of stomach | UBERON:0001161 | 85.08 | gold quality |
| lower esophagus | UBERON:0013473 | 85.08 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.04 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 85.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.03 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): YY1
miRNA regulators (miRDB)
93 targeting RAVER1, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
Literature-anchored findings (GeneRIF, showing 6)
- Raver1 gene promoter region shares common features of ubiquitously expressed gene with the interacting splicing regulator PTB (PMID:17931803)
- RAVER1 interactions with vinculin and RNA suggest a feed forward pathway in directing messenger RNA to focal adhesions. (PMID:19523901)
- These binding assays show that raver1 forms a ternary complex with metavinculin and vinculin mRNA. (PMID:22709580)
- RAVER1 specifically regulates MDA5 activity, revealing a mechanism of differential regulation of MDA5- and RIG-I-mediated innate antiviral response. (PMID:23390309)
- CRISPRi links COVID-19 GWAS loci to LZTFL1 and RAVER1. (PMID:34998241)
- RAVER1 hinders lethal EMT and modulates miR/RISC activity by the control of alternative splicing. (PMID:38300787)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | raver1 | ENSDARG00000052617 |
| mus_musculus | Raver1 | ENSMUSG00000010205 |
| rattus_norvegicus | Raver1 | ENSRNOG00000020710 |
| drosophila_melanogaster | nito | FBGN0027548 |
Paralogs (7): SPEN (ENSG00000065526), SFPQ (ENSG00000116560), PSPC1 (ENSG00000121390), NONO (ENSG00000147140), RAVER2 (ENSG00000162437), RBM15 (ENSG00000162775), RBM15B (ENSG00000259956)
Protein
Protein identifiers
Ribonucleoprotein PTB-binding 1 — Q8IY67 (reviewed: Q8IY67)
Alternative names: Protein raver-1
All UniProt accessions (2): A0A087WZ13, K7EKR9
UniProt curated annotations — full annotation on UniProt →
Function. Cooperates with PTBP1 to modulate regulated alternative splicing events. Promotes exon skipping. Cooperates with PTBP1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA.
Subunit / interactions. Interacts with PTBP1, RAVER2, VCL and ACTN1. Part of a complex containing RAVER1, VCL and ACTN1.
Subcellular location. Nucleus. Cytoplasm.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IY67-1 | 1 | yes |
| Q8IY67-2 | 2 | |
| Q8IY67-3 | 3 |
RefSeq proteins (2): NP_001353103, NP_597709* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034633 | RAVER1_RRM1 | Domain |
| IPR034635 | RAVER1_RRM3 | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR050502 | Euk_RNA-bind_prot | Family |
Pfam: PF00076
UniProt features (53 total): strand 14, helix 10, modified residue 8, region of interest 5, splice variant 4, turn 4, domain 3, compositionally biased region 2, initiator methionine 1, chain 1, short sequence motif 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3SMZ | X-RAY DIFFRACTION | 1.99 |
| 3VF0 | X-RAY DIFFRACTION | 2.54 |
| 3H2U | X-RAY DIFFRACTION | 2.75 |
| 3H2V | X-RAY DIFFRACTION | 2.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IY67-F1 | 68.33 | 0.46 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (8): 2, 6, 14, 463, 474, 562, 488, 567
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 105 (showing top):
E2F_Q4, E2F4DP1_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MODULE_453, CACCAGC_MIR138, GTGCCTT_MIR506, CATRRAGC_UNKNOWN, E2F1DP1_01, E2F1DP2_01, LIAO_METASTASIS, CYTAGCAAY_UNKNOWN, E2F1_Q3, MODULE_277, TGCCTTA_MIR124A
GO Biological Process (0):
GO Molecular Function (2): RNA binding (GO:0003723), nucleic acid binding (GO:0003676)
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1554 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RAVER1 | RRM2 | P31350 | 931 |
| RAVER1 | VCL | P18206 | 904 |
| RAVER1 | PTBP1 | P26599 | 861 |
| RAVER1 | PTBP2 | Q9UKA9 | 843 |
| RAVER1 | HNRNPDL | O14979 | 816 |
| RAVER1 | HNRNPC | P07910 | 779 |
| RAVER1 | TPM1 | P09493 | 687 |
| RAVER1 | PTBP3 | O95758 | 672 |
| RAVER1 | CELF1 | Q92879 | 616 |
| RAVER1 | KHSRP | Q92945 | 578 |
| RAVER1 | HNRNPL | P14866 | 543 |
| RAVER1 | PXN | P49023 | 529 |
| RAVER1 | RRM1 | P23921 | 507 |
| RAVER1 | SRSF5 | Q13243 | 494 |
| RAVER1 | HNRNPA1 | P09651 | 487 |
| RAVER1 | NOVA1 | P51513 | 487 |
IntAct
90 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CNOT7 | CNOT1 | psi-mi:“MI:0914”(association) | 0.880 |
| CNOT6L | CNOT1 | psi-mi:“MI:0914”(association) | 0.810 |
| CNOT11 | CNOT1 | psi-mi:“MI:0914”(association) | 0.770 |
| CNOT3 | CNOT1 | psi-mi:“MI:0914”(association) | 0.740 |
| TOB1 | CNOT1 | psi-mi:“MI:0914”(association) | 0.710 |
| CAPZA2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| CAPZB | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| GRAP2 | RAVER1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CNOT10 | RAVER1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCGN | SNAP23 | psi-mi:“MI:0914”(association) | 0.550 |
| TOB1 | RAVER1 | psi-mi:“MI:0914”(association) | 0.530 |
| CNOT10 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| FHL2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| FKBP9 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | CNOT1 | psi-mi:“MI:0914”(association) | 0.480 |
| RBM45 | HNRNPDL | psi-mi:“MI:0914”(association) | 0.460 |
| HTRA2 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.420 |
| Cnot3 | CNOT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HIF1AN | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP36 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| UHMK1 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPZB | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| hspa1a_hspa1b_human-1 | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (223): RAVER1 (Affinity Capture-MS), RAVER1 (Affinity Capture-MS), RAVER1 (Affinity Capture-MS), RAVER1 (Affinity Capture-MS), RAVER1 (Affinity Capture-MS), RAVER1 (Affinity Capture-MS), RAVER1 (Affinity Capture-MS), PFAS (Co-fractionation), RAVER1 (Co-fractionation), RAVER1 (Co-fractionation), RAVER1 (Co-fractionation), RAVER1 (Co-fractionation), RAVER1 (Co-fractionation), RAVER1 (Co-fractionation), RAVER1 (Affinity Capture-RNA)
ESM2 similar proteins: A0A8I6AGW3, A2A9A2, A2AEV7, A6NEQ2, A6NMB9, A8MYZ6, E9PZZ1, J3QK54, O02755, O02756, O14813, O35392, O35767, O60548, O70220, P05554, P17676, P23813, P42582, P47902, P49715, P49716, P52952, P53566, Q02779, Q03484, Q13461, Q14526, Q3U0S6, Q60843, Q63250, Q63HR2, Q6BEB4, Q6ZQN5, Q70KY4, Q8IU81, Q8IY67, Q8N196, Q90850, Q96HB5
Diamond homologs: A0A0R4IEW8, B3DJT0, F4JHI7, O09032, O22315, O23212, O42847, O43040, P0CP46, P0CP47, P26368, P26369, P26378, P33240, P90727, P90978, P97343, Q12926, Q14576, Q24562, Q28FX0, Q28GD4, Q2HJG2, Q2QKB3, Q2QKB4, Q2QZL4, Q2R0Q1, Q3UEB3, Q5D018, Q5R469, Q5R9Z6, Q5RCY1, Q5RDA3, Q5U259, Q5XI28, Q60899, Q60900, Q61701, Q63285, Q6CEW9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RAVER1 | “up-regulates activity” | PTBP1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 112 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain | 6 | 39.9× | 1e-06 |
| Deadenylation of mRNA | 6 | 33.8× | 2e-06 |
| M-decay: degradation of maternal mRNAs by maternally stored factors | 7 | 29.3× | 1e-06 |
| mRNA Splicing | 7 | 9.8× | 4e-04 |
| Processing of Capped Intron-Containing Pre-mRNA | 8 | 8.4× | 3e-04 |
| mRNA Splicing - Major Pathway | 11 | 7.7× | 1e-05 |
| Metabolism of RNA | 9 | 4.8× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| nuclear-transcribed mRNA poly(A) tail shortening | 6 | 46.8× | 2e-06 |
| regulatory ncRNA-mediated gene silencing | 5 | 32.7× | 8e-05 |
| negative regulation of translation | 8 | 15.2× | 2e-05 |
| mRNA splicing, via spliceosome | 10 | 8.9× | 5e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
152 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 124 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1639 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:10317468:T:TA | donor_gain | 1.0000 |
| 19:10317684:CCGTA:C | donor_loss | 1.0000 |
| 19:10317685:CGTA:C | donor_loss | 1.0000 |
| 19:10317685:CGTAC:C | donor_loss | 1.0000 |
| 19:10317686:GTAC:G | donor_loss | 1.0000 |
| 19:10317687:TACC:T | donor_loss | 1.0000 |
| 19:10317687:TACCT:T | donor_loss | 1.0000 |
| 19:10317688:ACC:A | donor_loss | 1.0000 |
| 19:10317770:TTGC:T | acceptor_gain | 1.0000 |
| 19:10317772:GC:G | acceptor_gain | 1.0000 |
| 19:10317772:GCC:G | acceptor_loss | 1.0000 |
| 19:10317773:CC:C | acceptor_gain | 1.0000 |
| 19:10317773:CCTG:C | acceptor_loss | 1.0000 |
| 19:10317774:C:CC | acceptor_gain | 1.0000 |
| 19:10317774:C:CG | acceptor_loss | 1.0000 |
| 19:10317775:T:A | acceptor_loss | 1.0000 |
| 19:10317783:A:AC | acceptor_gain | 1.0000 |
| 19:10318224:CTCA:C | donor_loss | 1.0000 |
| 19:10318227:ACCTT:A | donor_loss | 1.0000 |
| 19:10318228:C:CG | donor_loss | 1.0000 |
| 19:10318228:CCTTA:C | donor_gain | 1.0000 |
| 19:10318232:A:AC | donor_gain | 1.0000 |
| 19:10318233:C:CC | donor_gain | 1.0000 |
| 19:10318370:CAT:C | acceptor_gain | 1.0000 |
| 19:10318373:C:CC | acceptor_gain | 1.0000 |
| 19:10318389:G:T | acceptor_gain | 1.0000 |
| 19:10319163:TACCT:T | donor_loss | 1.0000 |
| 19:10319164:A:AC | donor_gain | 1.0000 |
| 19:10319164:A:C | donor_loss | 1.0000 |
| 19:10319165:C:CC | donor_gain | 1.0000 |
AlphaMissense
4687 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:10328820:A:G | L193P | 1.000 |
| 19:10328841:G:T | A186D | 1.000 |
| 19:10328860:A:C | Y180D | 1.000 |
| 19:10328868:A:G | F177S | 1.000 |
| 19:10329107:G:C | F97L | 1.000 |
| 19:10329107:G:T | F97L | 1.000 |
| 19:10329109:A:G | F97L | 1.000 |
| 19:10329111:G:T | A96D | 1.000 |
| 19:10330468:T:A | K93I | 1.000 |
| 19:10330477:T:A | D90V | 1.000 |
| 19:10330482:A:C | F88L | 1.000 |
| 19:10330482:A:T | F88L | 1.000 |
| 19:10330484:A:G | F88L | 1.000 |
| 19:10330490:A:G | Y86H | 1.000 |
| 19:10333311:A:T | L66H | 1.000 |
| 19:10333320:A:T | I63N | 1.000 |
| 19:10333326:A:T | I61K | 1.000 |
| 19:10333328:C:A | K60N | 1.000 |
| 19:10333328:C:G | K60N | 1.000 |
| 19:10333333:G:T | R59S | 1.000 |
| 19:10323394:A:G | L310P | 0.999 |
| 19:10323531:G:C | F264L | 0.999 |
| 19:10323531:G:T | F264L | 0.999 |
| 19:10323533:A:G | F264L | 0.999 |
| 19:10328739:G:A | S220F | 0.999 |
| 19:10328779:A:G | W207R | 0.999 |
| 19:10328779:A:T | W207R | 0.999 |
| 19:10328828:C:A | K190N | 0.999 |
| 19:10328828:C:G | K190N | 0.999 |
| 19:10328832:G:T | A189D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000176100 (19:10332020 T>C), RS1000406097 (19:10325905 A>G), RS1000544895 (19:10333036 C>T), RS1000639468 (19:10333737 TG>T), RS1000737969 (19:10327106 A>C,G), RS1000850149 (19:10335514 G>A,C), RS1000868412 (19:10322489 G>A,C,T), RS1000881031 (19:10316684 G>A,C), RS1000932653 (19:10319322 T>C,G), RS1001245362 (19:10317612 G>A,C,T), RS1001605353 (19:10323536 C>T), RS1002138147 (19:10329180 T>A,C,G), RS1002310878 (19:10323731 A>C), RS1002340435 (19:10328785 C>T), RS1002386527 (19:10318455 T>C)
Disease associations
OMIM: gene MIM:609950 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004131_88 | Inflammatory bowel disease | 2.000000e-11 |
| GCST004132_111 | Crohn’s disease | 3.000000e-13 |
| GCST004607_13 | Plateletcrit | 2.000000e-15 |
| GCST005537_45 | Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | 2.000000e-22 |
| GCST005568_15 | Rheumatoid arthritis (ACPA-positive) | 2.000000e-14 |
| GCST005569_38 | Rheumatoid arthritis | 3.000000e-13 |
| GCST009875_18 | Type 1 diabetes | 5.000000e-10 |
| GCST009877_3 | Rheumatoid arthritis | 4.000000e-15 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007985 | platelet crit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067144 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.90 | Kd | 12.67 | nM | CHEMBL5653589 |
| 7.90 | ED50 | 12.67 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149198: Binding affinity to human RAVER1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0127 | uM |
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | increases expression, affects expression, increases abundance | 2 |
| Silicon Dioxide | decreases expression, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression | 2 |
| 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| titanium dioxide | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| cupric chloride | increases expression | 1 |
| diallyl trisulfide | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Cadmium | increases abundance, decreases expression | 1 |
| Cannabidiol | decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652240 | Binding | Binding affinity to human RAVER1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2DG | Abcam HeLa RAVER1 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.