RRP7A
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Also known as CGI-96Rrp7
Summary
RRP7A (ribosomal RNA processing 7 homolog A, HGNC:24286) is a protein-coding gene on chromosome 22q13.2, encoding Ribosomal RNA-processing protein 7 homolog A (Q9Y3A4). Nucleolar protein that is involved in ribosomal RNA (rRNA) processing. It is a selective cancer dependency (DepMap: 84.8% of cell lines).
Enables RNA binding activity. Involved in cilium disassembly; protein localization to nucleolus; and ribosome biogenesis. Located in several cellular components, including centrosome; cilium; and nuclear lumen. Part of small-subunit processome. Implicated in primary autosomal recessive microcephaly 28.
Source: NCBI Gene 27341 — RefSeq curated summary.
At a glance
- Gene–disease (curated): microcephaly 28, primary, autosomal recessive (Moderate, GenCC)
- Clinical variants (ClinVar): 72 total — 1 pathogenic
- Phenotypes (HPO): 6
- Cancer dependency (DepMap): dependent in 84.8% of screened cell lines
- MANE Select transcript:
NM_015703
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24286 |
| Approved symbol | RRP7A |
| Name | ribosomal RNA processing 7 homolog A |
| Location | 22q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-96, Rrp7 |
| Ensembl gene | ENSG00000189306 |
| Ensembl biotype | protein_coding |
| OMIM | 619449 |
| Entrez | 27341 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 12 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000323013, ENST00000416699, ENST00000483303, ENST00000718430, ENST00000871842, ENST00000871843, ENST00000871844, ENST00000915990, ENST00000915991, ENST00000915992, ENST00000915993, ENST00000915994, ENST00000915995, ENST00000950948
RefSeq mRNA: 1 — MANE Select: NM_015703
NM_015703
CCDS: CCDS14036
Canonical transcript exons
ENST00000323013 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001244434 | 42514106 | 42514304 |
| ENSE00002527726 | 42514682 | 42514779 |
| ENSE00003624235 | 42515151 | 42515268 |
| ENSE00003628918 | 42518005 | 42518147 |
| ENSE00003646083 | 42516011 | 42516136 |
| ENSE00004035065 | 42508344 | 42512995 |
| ENSE00004035067 | 42519714 | 42519796 |
Expression profiles
Bgee: expression breadth ubiquitous, 190 present calls, max score 90.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.7187 / max 113.1475, expressed in 1807 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 194431 | 14.8705 | 1799 |
| 194432 | 1.5367 | 878 |
| 194430 | 0.3116 | 83 |
Top tissues by expression
270 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 90.96 | gold quality |
| granulocyte | CL:0000094 | 90.34 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 90.16 | gold quality |
| apex of heart | UBERON:0002098 | 87.71 | gold quality |
| metanephros cortex | UBERON:0010533 | 87.68 | gold quality |
| sural nerve | UBERON:0015488 | 87.53 | gold quality |
| stromal cell of endometrium | CL:0002255 | 86.83 | gold quality |
| monocyte | CL:0000576 | 86.67 | gold quality |
| leukocyte | CL:0000738 | 86.63 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.55 | gold quality |
| mononuclear cell | CL:0000842 | 86.34 | gold quality |
| esophagus mucosa | UBERON:0002469 | 86.34 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 86.30 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 86.26 | gold quality |
| ganglionic eminence | UBERON:0004023 | 86.23 | gold quality |
| cingulate cortex | UBERON:0003027 | 86.14 | gold quality |
| body of stomach | UBERON:0001161 | 86.10 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 86.06 | gold quality |
| left adrenal gland | UBERON:0001234 | 86.01 | gold quality |
| body of pancreas | UBERON:0001150 | 85.60 | gold quality |
| vermiform appendix | UBERON:0001154 | 85.43 | gold quality |
| left ovary | UBERON:0002119 | 85.40 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.39 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.32 | gold quality |
| esophagus | UBERON:0001043 | 85.30 | gold quality |
| thoracic aorta | UBERON:0001515 | 85.29 | gold quality |
| ascending aorta | UBERON:0001496 | 85.22 | gold quality |
| ventricular zone | UBERON:0003053 | 85.21 | gold quality |
| omental fat pad | UBERON:0010414 | 85.21 | gold quality |
| body of uterus | UBERON:0009853 | 85.20 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.60 |
| E-MTAB-6379 | no | 85.86 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
149 targeting RRP7A, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 84.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis. (PMID:33199730)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rrp7a | ENSDARG00000098934 |
| mus_musculus | Rrp7a | ENSMUSG00000018040 |
| rattus_norvegicus | Rrp7a | ENSRNOG00000022896 |
| drosophila_melanogaster | CG9107 | FBGN0031764 |
| caenorhabditis_elegans | ZC434.4 | WBGENE00013892 |
Protein
Protein identifiers
Ribosomal RNA-processing protein 7 homolog A — Q9Y3A4 (reviewed: Q9Y3A4)
Alternative names: Gastric cancer antigen Zg14
All UniProt accessions (2): F8WAT7, Q9Y3A4
UniProt curated annotations — full annotation on UniProt →
Function. Nucleolar protein that is involved in ribosomal RNA (rRNA) processing. Also plays a role in primary cilia resorption, and cell cycle progression in neurogenesis and neocortex development. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome.
Subunit / interactions. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. Interacts with NOL6; required for NOL6 localization to nucleolus.
Subcellular location. Nucleus. Nucleolus. Cell projection. Cilium. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Tissue specificity. Expressed in the apical radial glial cells in the developing brain.
Disease relevance. Microcephaly 28, primary, autosomal recessive (MCPH28) [MIM:619453] A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH28 is an autosomal recessive form characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the RRP7 family.
RefSeq proteins (1): NP_056518* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR024326 | RRP7_C | Domain |
| IPR034890 | Rrp7A_RRM | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR040446 | RRP7 | Family |
| IPR040447 | RRM_Rrp7 | Domain |
Pfam: PF12923, PF17799
UniProt features (9 total): sequence variant 4, sequence conflict 2, chain 1, domain 1, modified residue 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQA | ELECTRON MICROSCOPY | 2.7 |
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y3A4-F1 | 79.56 | 0.23 |
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 (1): 99
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-6790901 | rRNA modification in the nucleus and cytosol |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72312 | rRNA processing |
| R-HSA-8868773 | rRNA processing in the nucleus and cytosol |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 177 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GOBP_RIBOSOME_BIOGENESIS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_MATURATION_OF_SSU_RRNA, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_RIBOSOME_ASSEMBLY, MODULE_16, GOBP_BLASTOCYST_FORMATION, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, PUJANA_CHEK2_PCC_NETWORK, MODULE_118, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS
GO Biological Process (7): ribosomal small subunit assembly (GO:0000028), blastocyst formation (GO:0001825), rRNA processing (GO:0006364), ribosome biogenesis (GO:0042254), ribosomal small subunit biogenesis (GO:0042274), cilium disassembly (GO:0061523), protein localization to nucleolus (GO:1902570)
GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (12): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), centrosome (GO:0005813), cilium (GO:0005929), cell junction (GO:0030054), small-subunit processome (GO:0032040), CURI complex (GO:0032545), UTP-C complex (GO:0034456), nucleus (GO:0005634), cytoskeleton (GO:0005856), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
| Metabolism of RNA | 1 |
| rRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| nuclear protein-containing complex | 3 |
| ribosome biogenesis | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| binding | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| nucleolus | 2 |
| protein-RNA complex assembly | 1 |
| ribosome assembly | 1 |
| ribosomal small subunit biogenesis | 1 |
| blastocyst development | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| cilium organization | 1 |
| organelle disassembly | 1 |
| protein localization to nucleus | 1 |
| nucleic acid binding | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| 90S preribosome | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1891 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RRP7A | NOL6 | Q9H6R4 | 992 |
| RRP7A | CSNK2A1 | P19138 | 891 |
| RRP7A | CSNK2B | P07312 | 874 |
| RRP7A | PDCD11 | Q14690 | 785 |
| RRP7A | DDX52 | Q9Y2R4 | 744 |
| RRP7A | KRR1 | Q13601 | 692 |
| RRP7A | UTP20 | O75691 | 689 |
| RRP7A | PWP2 | Q15269 | 678 |
| RRP7A | WDR43 | Q15061 | 671 |
| RRP7A | UTP6 | Q9NYH9 | 664 |
| RRP7A | HEATR1 | Q9H583 | 664 |
| RRP7A | UTP18 | Q9Y5J1 | 657 |
| RRP7A | RCL1 | Q9Y2P8 | 640 |
| RRP7A | UTP4 | Q969X6 | 607 |
| RRP7A | BMS1 | Q14692 | 604 |
IntAct
82 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| TFIP11 | RRP7A | psi-mi:“MI:0915”(physical association) | 0.670 |
| RRP7A | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| LRRC46 | TFPT | psi-mi:“MI:0914”(association) | 0.640 |
| ARMC7 | RRP7A | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDCA7L | RRP7A | psi-mi:“MI:0915”(physical association) | 0.560 |
| GADD45G | RRP7A | psi-mi:“MI:0915”(physical association) | 0.560 |
| RRP7A | CDCA7L | psi-mi:“MI:0915”(physical association) | 0.560 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| NAP1L5 | RPS2 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP7A | ATP4A | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (141): RRP7A (Two-hybrid), RRP7A (Affinity Capture-MS), ATP4A (Affinity Capture-MS), STXBP1 (Affinity Capture-MS), CRMP1 (Affinity Capture-MS), DPYSL3 (Affinity Capture-MS), DPYSL2 (Affinity Capture-MS), NOL6 (Affinity Capture-MS), GNG2 (Affinity Capture-MS), CAMK2A (Affinity Capture-MS), HIST2H3PS2 (Affinity Capture-MS), RRP7A (Affinity Capture-MS), RRP7A (Affinity Capture-MS), RPL24 (Co-fractionation), RPS7 (Co-fractionation)
ESM2 similar proteins: B0K012, D3ZV31, O09172, O35465, O60613, O75817, P0CL18, P24522, P41214, P48507, P50747, Q0II25, Q0V8R7, Q14318, Q1JQA1, Q2TBK2, Q3B7U9, Q3T0J1, Q3U2J5, Q3UX43, Q3ZBN6, Q496Y0, Q58CR3, Q5BK68, Q5C9Z4, Q5PPG7, Q5RA17, Q5RA63, Q5ZLS2, Q60GI5, Q641X9, Q6NYU2, Q7T076, Q80YV4, Q86WV5, Q8BKW4, Q8BXK4, Q8CHQ0, Q8K2D3, Q8K2I9
Diamond homologs: O94683, P25368, Q9D1C9, Q9NSQ0, Q9Y3A4, Q5RA17, Q23314
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 97 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 |
|---|---|---|---|
| Eukaryotic Translation Initiation | 6 | 29.4× | 2e-06 |
| Cap-dependent Translation Initiation | 6 | 29.4× | 2e-06 |
| SARS-CoV-1 modulates host translation machinery | 6 | 29.4× | 2e-06 |
| Eukaryotic Translation Elongation | 6 | 26.5× | 2e-06 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 6 | 25.9× | 2e-06 |
| rRNA processing in the nucleus and cytosol | 9 | 23.0× | 3e-08 |
| Nonsense-Mediated Decay (NMD) | 6 | 22.2× | 5e-06 |
| SARS-CoV-2 modulates host translation machinery | 6 | 21.3× | 6e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 8 | 16.6× | 1e-05 |
| ribosomal small subunit biogenesis | 6 | 15.3× | 4e-04 |
| rRNA processing | 7 | 11.1× | 4e-04 |
| translation | 9 | 10.4× | 5e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1184440 | NM_015703.5(RRP7A):c.465G>C (p.Trp155Cys) | Pathogenic |
SpliceAI
944 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:42512991:TAGAT:T | acceptor_gain | 1.0000 |
| 22:42512993:GAT:G | acceptor_gain | 1.0000 |
| 22:42512994:AT:A | acceptor_gain | 1.0000 |
| 22:42512996:C:CC | acceptor_gain | 1.0000 |
| 22:42512996:C:G | acceptor_loss | 1.0000 |
| 22:42512997:T:C | acceptor_loss | 1.0000 |
| 22:42513002:G:C | acceptor_gain | 1.0000 |
| 22:42513002:G:GC | acceptor_gain | 1.0000 |
| 22:42514104:A:AC | donor_gain | 1.0000 |
| 22:42514104:ACGCT:A | donor_gain | 1.0000 |
| 22:42514105:C:CA | donor_gain | 1.0000 |
| 22:42514105:CG:C | donor_gain | 1.0000 |
| 22:42514105:CGCT:C | donor_gain | 1.0000 |
| 22:42514105:CGCTC:C | donor_gain | 1.0000 |
| 22:42514108:T:A | donor_gain | 1.0000 |
| 22:42514302:TTCC:T | acceptor_loss | 1.0000 |
| 22:42514678:CTACC:C | donor_loss | 1.0000 |
| 22:42514679:TA:T | donor_loss | 1.0000 |
| 22:42514680:ACCT:A | donor_loss | 1.0000 |
| 22:42514776:CACT:C | acceptor_gain | 1.0000 |
| 22:42514778:CT:C | acceptor_gain | 1.0000 |
| 22:42514780:C:CC | acceptor_gain | 1.0000 |
| 22:42515146:CTAA:C | donor_gain | 1.0000 |
| 22:42515149:A:C | donor_gain | 1.0000 |
| 22:42515150:C:CA | donor_loss | 1.0000 |
| 22:42515150:C:CC | donor_gain | 1.0000 |
| 22:42515150:CT:C | donor_gain | 1.0000 |
| 22:42515265:AACC:A | acceptor_gain | 1.0000 |
| 22:42515266:ACC:A | acceptor_gain | 1.0000 |
| 22:42515267:CCC:C | acceptor_gain | 1.0000 |
AlphaMissense
1810 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:42512922:G:C | F277L | 0.998 |
| 22:42512922:G:T | F277L | 0.998 |
| 22:42512924:A:G | F277L | 0.998 |
| 22:42512970:G:C | F261L | 0.997 |
| 22:42512970:G:T | F261L | 0.997 |
| 22:42512972:A:G | F261L | 0.997 |
| 22:42514254:C:A | W203C | 0.996 |
| 22:42514254:C:G | W203C | 0.996 |
| 22:42512983:A:G | L257P | 0.995 |
| 22:42514256:A:G | W203R | 0.994 |
| 22:42514256:A:T | W203R | 0.994 |
| 22:42512923:A:C | F277C | 0.993 |
| 22:42512923:A:G | F277S | 0.993 |
| 22:42512930:G:T | R275S | 0.992 |
| 22:42512963:C:G | D264H | 0.992 |
| 22:42512980:C:G | R258P | 0.992 |
| 22:42512981:G:T | R258S | 0.992 |
| 22:42512958:C:A | K265N | 0.991 |
| 22:42512958:C:G | K265N | 0.991 |
| 22:42512971:A:C | F261C | 0.991 |
| 22:42512962:T:A | D264V | 0.988 |
| 22:42512929:C:G | R275P | 0.986 |
| 22:42512971:A:G | F261S | 0.986 |
| 22:42514141:A:G | F241S | 0.986 |
| 22:42514255:C:G | W203S | 0.985 |
| 22:42518033:A:T | V63D | 0.985 |
| 22:42512936:C:G | A273P | 0.984 |
| 22:42514133:A:G | W244R | 0.984 |
| 22:42514133:A:T | W244R | 0.984 |
| 22:42514123:C:G | R247P | 0.983 |
dbSNP variants (sampled 300 via entrez): RS1000237348 (22:42519634 G>A), RS1000453511 (22:42510506 G>A,T), RS1000749859 (22:42514885 G>A), RS1001187455 (22:42518499 C>G), RS1001238180 (22:42518855 C>T), RS1001353801 (22:42513885 A>G), RS1001457710 (22:42509628 C>A), RS1002026652 (22:42521579 T>C), RS1002176858 (22:42517330 G>A,T), RS1002744032 (22:42512714 C>T), RS1003076570 (22:42520736 ACCCGCCAG>A), RS1003237183 (22:42520373 G>T), RS1003435550 (22:42520534 C>T), RS1003646459 (22:42516351 G>C,T), RS1004187144 (22:42517814 C>G)
Disease associations
OMIM: gene MIM:619449 | disease phenotypes: MIM:619453
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| microcephaly 28, primary, autosomal recessive | Moderate | Autosomal recessive |
Mondo (1): microcephaly 28, primary, autosomal recessive (MONDO:0030339)
Orphanet (0):
HPO phenotypes
6 total (6 of 6 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000340 | Sloping forehead |
| HP:0000750 | Delayed speech and language development |
| HP:0001249 | Intellectual disability |
| HP:0003577 | Congenital onset |
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs11553441 | Efficacy | 3 | methylphenidate | Attention Deficit Disorder with Hyperactivity |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs11553441 | RRP7A | 3 | 0.00 | 1 | methylphenidate |
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Smoke | increases expression, decreases expression, increases abundance | 2 |
| afuresertib | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| testosterone enanthate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| zinc chromate | increases abundance, decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| coumarin | increases phosphorylation | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Dimethyl Sulfoxide | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: microcephaly 28, primary, autosomal recessive
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): microcephaly 28, primary, autosomal recessive