THOC7
gene geneOn this page
Also known as NIF3L1BP1FLJ23445fSAP24
Summary
THOC7 (THO complex subunit 7, HGNC:29874) is a protein-coding gene on chromosome 3p14.1, encoding THO complex subunit 7 (Q6I9Y2). Component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. It is a common-essential gene (DepMap: required in 99.3% of cancer cell lines).
Predicted to enable RNA binding activity. Involved in mRNA export from nucleus. Located in chromosome, telomeric region; cytosol; and nuclear speck. Part of THO complex part of transcription export complex.
Source: NCBI Gene 80145 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 3 total
- Cancer dependency (DepMap): dependent in 99.3% of screened cell lines (common-essential)
- MANE Select transcript:
NM_025075
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29874 |
| Approved symbol | THOC7 |
| Name | THO complex subunit 7 |
| Location | 3p14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NIF3L1BP1, FLJ23445, fSAP24 |
| Ensembl gene | ENSG00000163634 |
| Ensembl biotype | protein_coding |
| OMIM | 611965 |
| Entrez | 80145 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000295899, ENST00000464327, ENST00000469153, ENST00000469584, ENST00000473141, ENST00000487570, ENST00000498422
RefSeq mRNA: 3 — MANE Select: NM_025075
NM_001285387, NM_001285404, NM_025075
CCDS: CCDS2900, CCDS74957
Canonical transcript exons
ENST00000295899 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001348935 | 63863772 | 63863805 |
| ENSE00001874756 | 63833870 | 63834199 |
| ENSE00003461528 | 63835154 | 63835223 |
| ENSE00003465617 | 63838372 | 63838499 |
| ENSE00003556677 | 63835324 | 63835390 |
| ENSE00003560576 | 63836301 | 63836358 |
| ENSE00003615881 | 63839656 | 63839773 |
| ENSE00003638247 | 63837976 | 63838062 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 98.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.4318 / max 1263.1084, expressed in 1809 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42829 | 32.3701 | 1805 |
| 42833 | 1.9695 | 802 |
| 42834 | 1.2978 | 600 |
| 42827 | 0.5161 | 256 |
| 42832 | 0.3788 | 163 |
| 42828 | 0.3214 | 119 |
| 42831 | 0.2979 | 127 |
| 42826 | 0.2801 | 107 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 98.55 | gold quality |
| oocyte | CL:0000023 | 98.01 | gold quality |
| rectum | UBERON:0001052 | 97.11 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.03 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.01 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.97 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.93 | gold quality |
| body of pancreas | UBERON:0001150 | 96.91 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.91 | gold quality |
| lower esophagus | UBERON:0013473 | 96.91 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.91 | gold quality |
| tibial artery | UBERON:0007610 | 96.76 | gold quality |
| popliteal artery | UBERON:0002250 | 96.75 | gold quality |
| esophagus | UBERON:0001043 | 96.73 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.68 | gold quality |
| muscle of leg | UBERON:0001383 | 96.64 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.62 | gold quality |
| amygdala | UBERON:0001876 | 96.62 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.62 | gold quality |
| pancreas | UBERON:0001264 | 96.60 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.54 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.51 | gold quality |
| gingival epithelium | UBERON:0001949 | 96.46 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.46 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.44 | gold quality |
| left coronary artery | UBERON:0001626 | 96.43 | gold quality |
| monocyte | CL:0000576 | 96.40 | gold quality |
| gingiva | UBERON:0001828 | 96.39 | gold quality |
| mononuclear cell | CL:0000842 | 96.34 | gold quality |
| heart right ventricle | UBERON:0002080 | 96.30 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10042 | yes | 13.30 |
| E-ANND-3 | yes | 9.13 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
31 targeting THOC7, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-586 | 99.65 | 70.40 | 2051 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-4797-5P | 99.39 | 68.01 | 1354 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-3125 | 99.14 | 68.49 | 2269 |
| HSA-MIR-3916 | 98.99 | 68.04 | 2155 |
| HSA-MIR-6859-5P | 98.99 | 68.07 | 2049 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-1-5P | 98.70 | 68.66 | 1017 |
| HSA-MIR-1255B-2-3P | 97.80 | 67.04 | 880 |
| HSA-MIR-335-5P | 97.10 | 68.12 | 1022 |
| HSA-MIR-541-3P | 96.07 | 66.11 | 1271 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.3% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 3)
- THOC7 (50-137, amino acid numbers) binds to the N-terminal portion (1-199) of FMIP directly. (PMID:19059247)
- THOC7 negatively regulates type I IFN production by promoting TBK1 proteasomal degradation in Sendai virus infection (PMID:30769920)
- Human THO maintains the stability of repetitive DNA. (PMID:32065701)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | thoc7 | ENSDARG00000015394 |
| mus_musculus | Thoc7 | ENSMUSG00000053453 |
| rattus_norvegicus | Thoc7 | ENSRNOG00000007701 |
| drosophila_melanogaster | thoc7 | FBGN0035110 |
| caenorhabditis_elegans | WBGENE00007195 |
Protein
Protein identifiers
THO complex subunit 7 — Q6I9Y2 (reviewed: Q6I9Y2)
Alternative names: Functional spliceosome-associated protein 24, Ngg1-interacting factor 3-like protein 1-binding protein 1, hTREX30
All UniProt accessions (4): Q6I9Y2, A0A5S6STF9, F8WF22, H7C5E3
UniProt curated annotations — full annotation on UniProt →
Function. Component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. Required for efficient export of polyadenylated RNA. Plays a key structural role in the oligomerization of the THO-DDX39B complex. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5’ end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NXF1 pathway. (Microbial infection) The TREX complex is essential for the export of Kaposi’s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production.
Subunit / interactions. Tetramer; as part of a THO-DDX39B complex. Component of the THO subcomplex, which is composed of THOC1, THOC2, THOC3, THOC5, THOC6 and THOC7. Component of the transcription/export (TREX) complex at least composed of ALYREF/THOC4, DDX39B, SARNP/CIP29, CHTOP and the THO subcomplex; in the complex interacts with THOC1, THOC2 and THOC5; forms a coiled-coil dimer with THOC5; together with THOC5 and THOC6, plays a key structural role in the oligomerization of the THO-DDX39B complex. TREX seems to have a dynamic structure involving ATP-dependent remodeling. Interacts with NIF3L1.
Subcellular location. Cytoplasm. Nucleus. Nucleus speckle.
Similarity. Belongs to the THOC7 family.
RefSeq proteins (3): NP_001272316, NP_001272333, NP_079351* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008501 | THOC7/Mft1 | Family |
Pfam: PF05615
UniProt features (16 total): helix 4, sequence conflict 3, region of interest 3, modified residue 3, initiator methionine 1, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7APK | ELECTRON MICROSCOPY | 3.3 |
| 7ZNL | ELECTRON MICROSCOPY | 3.45 |
| 7ZNK | ELECTRON MICROSCOPY | 3.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6I9Y2-F1 | 88.31 | 0.68 |
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 (3): 2, 5, 36
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-159236 | Transport of Mature mRNA derived from an Intron-Containing Transcript |
| R-HSA-72187 | mRNA 3’-end processing |
| R-HSA-73856 | RNA Polymerase II Transcription Termination |
| R-HSA-72202 | Transport of Mature Transcript to Cytoplasm |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 143 (showing top):
MODULE_97, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MODULE_182, GOBP_NUCLEAR_TRANSPORT, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GAZDA_DIAMOND_BLACKFAN_ANEMIA_PROGENITOR_DN, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_RNA_SPLICING, GOBP_NUCLEAR_EXPORT, GOBP_RNA_LOCALIZATION, chr3p14, REACTOME_METABOLISM_OF_RNA, GOCC_TRANSCRIPTION_EXPORT_COMPLEX
GO Biological Process (4): mRNA processing (GO:0006397), mRNA export from nucleus (GO:0006406), RNA splicing (GO:0008380), mRNA transport (GO:0051028)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (9): transcription export complex (GO:0000346), THO complex (GO:0000347), THO complex part of transcription export complex (GO:0000445), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear speck (GO:0016607), chromosome, telomeric region (GO:0000781)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Processing of Capped Intron-Containing Pre-mRNA | 2 |
| Transport of Mature Transcript to Cytoplasm | 1 |
| RNA Polymerase II Transcription | 1 |
| Metabolism of RNA | 1 |
| Gene expression (Transcription) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| RNA processing | 2 |
| nuclear protein-containing complex | 2 |
| mRNA metabolic process | 1 |
| RNA export from nucleus | 1 |
| gene expression | 1 |
| mRNA transport | 1 |
| RNA transport | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| transcription export complex | 1 |
| THO complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| nuclear ribonucleoprotein granule | 1 |
| chromosomal region | 1 |
Protein interactions and networks
STRING
1486 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| THOC7 | THOC5 | Q13769 | 998 |
| THOC7 | THOC6 | Q86W42 | 998 |
| THOC7 | THOC2 | Q8NI27 | 997 |
| THOC7 | THOC1 | Q96FV9 | 997 |
| THOC7 | THOC3 | Q96J01 | 997 |
| THOC7 | NIF3L1 | Q9GZT8 | 939 |
| THOC7 | DDX39B | Q13838 | 876 |
| THOC7 | SARNP | P82979 | 855 |
| THOC7 | ALYREF | Q86V81 | 790 |
| THOC7 | NCBP1 | Q09161 | 740 |
| THOC7 | DDX39A | O00148 | 640 |
| THOC7 | CHTOP | Q9Y3Y2 | 638 |
| THOC7 | FYTTD1 | Q96QD9 | 624 |
| THOC7 | NXF1 | Q9UBU9 | 621 |
| THOC7 | NXT1 | Q9UKK6 | 593 |
IntAct
104 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| THOC1 | THOC5 | psi-mi:“MI:0914”(association) | 0.930 |
| RBM8A | CASC3 | psi-mi:“MI:0914”(association) | 0.900 |
| DDX39B | THOC5 | psi-mi:“MI:0915”(physical association) | 0.800 |
| THOC1 | EIF4A3 | psi-mi:“MI:0914”(association) | 0.660 |
| THOC7 | THOC5 | psi-mi:“MI:0915”(physical association) | 0.650 |
| THOC5 | THOC7 | psi-mi:“MI:0915”(physical association) | 0.650 |
| THOC5 | THOC7 | psi-mi:“MI:0914”(association) | 0.650 |
| THOC7 | THOC5 | psi-mi:“MI:0914”(association) | 0.650 |
| THOC7 | THOC5 | psi-mi:“MI:0403”(colocalization) | 0.650 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| THOC1 | DDX39A | psi-mi:“MI:0914”(association) | 0.640 |
| NDC80 | THOC7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| THOC7 | SMARCD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| THOC7 | MNS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| THOC7 | CCDC146 | psi-mi:“MI:0915”(physical association) | 0.560 |
| THOC3 | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| NCBP3 | SAP18 | psi-mi:“MI:0914”(association) | 0.530 |
| EIF4A3 | psi-mi:“MI:0915”(physical association) | 0.490 | |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| CHTOP | SAP18 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (167): THOC7 (Affinity Capture-RNA), THOC7 (Affinity Capture-RNA), THOC7 (Affinity Capture-RNA), THOC7 (Affinity Capture-RNA), THOC7 (Affinity Capture-MS), THOC7 (Affinity Capture-MS), THOC1 (Co-fractionation), THOC3 (Co-fractionation), THOC7 (Co-fractionation), THOC7 (Co-fractionation), THOC7 (Co-fractionation), THOC7 (Proximity Label-MS), ADAR (Affinity Capture-MS), BCL2L2 (Affinity Capture-MS), DHX9 (Affinity Capture-MS)
ESM2 similar proteins: A4IFK9, A4IGK3, A6H6W9, A9YWH3, O54941, O70166, O93388, P13668, P16949, P21818, P31395, P54227, P55821, P63042, P63043, Q2KI04, Q32KT0, Q32M00, Q3SZ60, Q3T0C7, Q4R4N5, Q4R712, Q5BJU6, Q5R4C5, Q5R8C6, Q5RBB8, Q5RE12, Q5SQY2, Q5XIA2, Q5ZK25, Q642H2, Q6AYJ2, Q6DUB7, Q6I9Y2, Q6NXN1, Q6PH81, Q7TMY4, Q7Z422, Q8BR65, Q8CJ19
Diamond homologs: A7RX34, Q3SZ60, Q552L5, Q6DGZ3, Q6I9Y2, Q6P643, Q7SZ78, Q7TMY4, Q8IRJ8, Q8LDS5, Q9M8T6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| THOC7 | “form complex” | “TREX complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 106 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 |
|---|---|---|---|
| mRNA 3’-end processing | 16 | 42.0× | 3e-20 |
| Transport of Mature Transcript to Cytoplasm | 7 | 35.5× | 3e-08 |
| RNA Polymerase II Transcription Termination | 12 | 35.1× | 4e-14 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 13 | 26.4× | 8e-14 |
| Processing of Capped Intron-Containing Pre-mRNA | 18 | 19.7× | 8e-17 |
| mRNA Splicing | 13 | 19.0× | 5e-12 |
| mRNA Splicing - Major Pathway | 23 | 16.8× | 3e-20 |
| mRNA Polyadenylation | 14 | 16.4× | 5e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA export from nucleus | 13 | 40.5× | 1e-15 |
| U2-type prespliceosome assembly | 5 | 32.9× | 4e-05 |
| mRNA splicing, via spliceosome | 19 | 18.3× | 3e-16 |
| RNA splicing | 18 | 16.7× | 3e-15 |
| mRNA processing | 19 | 15.8× | 1e-15 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 12.8× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
3 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1146 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:63834200:C:CC | acceptor_gain | 1.0000 |
| 3:63835152:A:AC | donor_gain | 1.0000 |
| 3:63835152:ACTTT:A | donor_gain | 1.0000 |
| 3:63835153:C:CC | donor_gain | 1.0000 |
| 3:63835153:CTTTC:C | donor_gain | 1.0000 |
| 3:63835156:T:A | donor_gain | 1.0000 |
| 3:63835220:CCAG:C | acceptor_gain | 1.0000 |
| 3:63835221:CAG:C | acceptor_gain | 1.0000 |
| 3:63835221:CAGC:C | acceptor_gain | 1.0000 |
| 3:63835222:AGC:A | acceptor_loss | 1.0000 |
| 3:63835224:C:CC | acceptor_gain | 1.0000 |
| 3:63835225:T:A | acceptor_loss | 1.0000 |
| 3:63835226:G:C | acceptor_gain | 1.0000 |
| 3:63835226:G:GC | acceptor_gain | 1.0000 |
| 3:63835229:T:TC | acceptor_gain | 1.0000 |
| 3:63835328:T:C | donor_gain | 1.0000 |
| 3:63835388:TCCC:T | acceptor_loss | 1.0000 |
| 3:63835389:CC:C | acceptor_gain | 1.0000 |
| 3:63835390:CC:C | acceptor_gain | 1.0000 |
| 3:63835391:C:A | acceptor_loss | 1.0000 |
| 3:63835391:C:CC | acceptor_gain | 1.0000 |
| 3:63835392:T:A | acceptor_loss | 1.0000 |
| 3:63836294:CACTT:C | donor_loss | 1.0000 |
| 3:63836295:ACTT:A | donor_loss | 1.0000 |
| 3:63836296:CT:C | donor_loss | 1.0000 |
| 3:63836297:T:TC | donor_loss | 1.0000 |
| 3:63836298:T:TC | donor_loss | 1.0000 |
| 3:63836299:A:AC | donor_gain | 1.0000 |
| 3:63836299:AC:A | donor_loss | 1.0000 |
| 3:63836300:C:CA | donor_gain | 1.0000 |
AlphaMissense
1353 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:63835171:A:G | L177P | 1.000 |
| 3:63835192:A:G | L170P | 1.000 |
| 3:63836334:A:T | I126N | 1.000 |
| 3:63836356:A:G | Y119H | 1.000 |
| 3:63837981:C:G | R116P | 1.000 |
| 3:63837990:C:G | R113P | 1.000 |
| 3:63838003:C:G | A109P | 1.000 |
| 3:63838467:A:G | L57P | 1.000 |
| 3:63839684:A:G | W37R | 1.000 |
| 3:63839684:A:T | W37R | 1.000 |
| 3:63839704:A:G | L30P | 1.000 |
| 3:63839715:T:A | R26S | 1.000 |
| 3:63839715:T:G | R26S | 1.000 |
| 3:63839726:C:G | D23H | 1.000 |
| 3:63839728:C:T | G22E | 1.000 |
| 3:63839734:C:T | G20D | 1.000 |
| 3:63839735:C:A | G20C | 1.000 |
| 3:63839735:C:G | G20R | 1.000 |
| 3:63839740:C:A | G18V | 1.000 |
| 3:63839740:C:T | G18E | 1.000 |
| 3:63839741:C:G | G18R | 1.000 |
| 3:63839741:C:T | G18R | 1.000 |
| 3:63839744:C:G | D17H | 1.000 |
| 3:63839749:A:G | L15P | 1.000 |
| 3:63839752:A:G | L14P | 1.000 |
| 3:63839752:A:T | L14H | 1.000 |
| 3:63839755:C:G | R13P | 1.000 |
| 3:63839756:G:T | R13S | 1.000 |
| 3:63839761:C:G | R11P | 1.000 |
| 3:63839764:A:T | I10K | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000039641 (3:63856130 A>G), RS1000074512 (3:63835748 A>C), RS1000120340 (3:63848844 T>C), RS1000126641 (3:63836040 T>G), RS1000312104 (3:63861860 T>C), RS1000374389 (3:63843151 C>T), RS1000427573 (3:63860359 T>C), RS1000483033 (3:63860144 A>G), RS1000630319 (3:63844028 G>A), RS1000659857 (3:63844407 T>C), RS1000771606 (3:63847474 A>C,G), RS1000898147 (3:63853733 C>A,G,T), RS1000982902 (3:63841704 C>T), RS1001131757 (3:63834580 A>T), RS1001258430 (3:63836468 G>C)
Disease associations
OMIM: gene MIM:611965 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_49 | Schizophrenia | 1.000000e-08 |
| GCST004946_63 | Schizophrenia | 4.000000e-08 |
| GCST006803_106 | Schizophrenia | 1.000000e-10 |
| GCST007201_143 | Schizophrenia | 5.000000e-09 |
| GCST007201_208 | Schizophrenia | 6.000000e-10 |
| GCST008506_1 | Stress sensitivity (neuroticism score x major depressive disorder status interaction) | 2.000000e-06 |
| GCST008506_6 | Stress sensitivity (neuroticism score x major depressive disorder status interaction) | 7.000000e-06 |
| GCST008595_34 | Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) | 2.000000e-08 |
| GCST009600_13 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 4.000000e-09 |
| GCST010002_428 | Refractive error | 5.000000e-11 |
| GCST010698_66 | Subcortical volume (min-P) | 1.000000e-16 |
| GCST010699_21 | Brain morphology (min-P) | 9.000000e-10 |
| GCST010701_75 | Cortical surface area (MOSTest) | 4.000000e-09 |
| GCST010702_127 | Subcortical volume (MOSTest) | 4.000000e-09 |
| GCST010703_71 | Brain morphology (MOSTest) | 3.000000e-08 |
| GCST90002398_124 | Neutrophil count | 2.000000e-09 |
| GCST90002407_49 | White blood cell count | 5.000000e-11 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007660 | neuroticism measurement |
| EFO:0004337 | intelligence |
| EFO:0004784 | self reported educational attainment |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004833 | neutrophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Particulate Matter | decreases expression, increases abundance, increases expression, affects cotreatment | 3 |
| bisphenol A | affects expression, increases abundance, decreases expression, affects cotreatment | 2 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| bufotalin | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Ethanol | decreases expression, increases abundance, affects cotreatment | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diuron | decreases expression | 1 |
| Gasoline | decreases expression, increases abundance, affects cotreatment | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Oils, Volatile | affects cotreatment, affects expression, increases abundance | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Urethane | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Aflatoxin M1 | decreases expression | 1 |
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.