TRAPPC8
gene geneOn this page
Also known as HsT2706TRS85GSG1
Summary
TRAPPC8 (trafficking protein particle complex subunit 8, HGNC:29169) is a protein-coding gene on chromosome 18q12.1, encoding Trafficking protein particle complex subunit 8 (Q9Y2L5). Plays a role in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage. It is a common-essential gene (DepMap: required in 98.7% of cancer cell lines).
Involved in Golgi organization and collagen biosynthetic process. Part of TRAPP complex.
Source: NCBI Gene 22878 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 234 total
- Cancer dependency (DepMap): dependent in 98.7% of screened cell lines (common-essential)
- MANE Select transcript:
NM_014939
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29169 |
| Approved symbol | TRAPPC8 |
| Name | trafficking protein particle complex subunit 8 |
| Location | 18q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HsT2706, TRS85, GSG1 |
| Ensembl gene | ENSG00000153339 |
| Ensembl biotype | protein_coding |
| OMIM | 614136 |
| Entrez | 22878 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 11 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000283351, ENST00000577426, ENST00000577474, ENST00000578252, ENST00000578658, ENST00000578886, ENST00000580104, ENST00000581057, ENST00000582509, ENST00000582513, ENST00000582539, ENST00000584604, ENST00000584876, ENST00000865827, ENST00000865828, ENST00000865829, ENST00000865830, ENST00000923366, ENST00000923367
RefSeq mRNA: 1 — MANE Select: NM_014939
NM_014939
CCDS: CCDS11901
Canonical transcript exons
ENST00000283351 — 29 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001010236 | 31907460 | 31907610 |
| ENSE00001010242 | 31913369 | 31913522 |
| ENSE00001010245 | 31908303 | 31908418 |
| ENSE00001108131 | 31917578 | 31917667 |
| ENSE00001108134 | 31900925 | 31901025 |
| ENSE00001108136 | 31870372 | 31870502 |
| ENSE00001108137 | 31890735 | 31890866 |
| ENSE00001108141 | 31870926 | 31871120 |
| ENSE00001108142 | 31908754 | 31909010 |
| ENSE00001108143 | 31857540 | 31857982 |
| ENSE00001108146 | 31897786 | 31897891 |
| ENSE00001108149 | 31909667 | 31909760 |
| ENSE00001108154 | 31916272 | 31916446 |
| ENSE00001108156 | 31867402 | 31867476 |
| ENSE00001108158 | 31866849 | 31866975 |
| ENSE00001108162 | 31864627 | 31864781 |
| ENSE00001834739 | 31942608 | 31943128 |
| ENSE00001860632 | 31829197 | 31830989 |
| ENSE00003500604 | 31839312 | 31839457 |
| ENSE00003506125 | 31849566 | 31849739 |
| ENSE00003515212 | 31855660 | 31855807 |
| ENSE00003573473 | 31931329 | 31931523 |
| ENSE00003595905 | 31852446 | 31852504 |
| ENSE00003599252 | 31853849 | 31853945 |
| ENSE00003621235 | 31846716 | 31846817 |
| ENSE00003647124 | 31852595 | 31852663 |
| ENSE00003668210 | 31832084 | 31832173 |
| ENSE00003725280 | 31874480 | 31874704 |
| ENSE00003749622 | 31873430 | 31873538 |
Expression profiles
Bgee: expression breadth ubiquitous, 300 present calls, max score 98.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.4013 / max 158.4253, expressed in 1814 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 171593 | 22.0818 | 1812 |
| 171594 | 1.9189 | 1042 |
| 171595 | 0.4005 | 168 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hair follicle | UBERON:0002073 | 98.42 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 97.48 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 97.34 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.32 | gold quality |
| caput epididymis | UBERON:0004358 | 97.24 | gold quality |
| sperm | CL:0000019 | 97.08 | gold quality |
| superior surface of tongue | UBERON:0007371 | 97.04 | gold quality |
| renal medulla | UBERON:0000362 | 96.71 | gold quality |
| male germ cell | CL:0000015 | 96.68 | gold quality |
| cardia of stomach | UBERON:0001162 | 96.68 | gold quality |
| bronchial epithelial cell | CL:0002328 | 96.65 | gold quality |
| corpus epididymis | UBERON:0004359 | 96.62 | gold quality |
| pylorus | UBERON:0001166 | 96.54 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.54 | gold quality |
| mammary duct | UBERON:0001765 | 96.48 | gold quality |
| tongue | UBERON:0001723 | 96.43 | gold quality |
| superficial temporal artery | UBERON:0001614 | 96.34 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.32 | gold quality |
| oral cavity | UBERON:0000167 | 96.22 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 96.21 | gold quality |
| jejunum | UBERON:0002115 | 96.09 | gold quality |
| body of tongue | UBERON:0011876 | 95.91 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 95.88 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 95.82 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 95.81 | gold quality |
| pericardium | UBERON:0002407 | 95.74 | gold quality |
| biceps brachii | UBERON:0001507 | 95.65 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 95.60 | gold quality |
| pons | UBERON:0000988 | 95.58 | gold quality |
| upper leg skin | UBERON:0004262 | 95.45 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-100618 | yes | 718.37 |
| E-ANND-3 | yes | 6.52 |
| E-MTAB-6386 | no | 390.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
139 targeting TRAPPC8, 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-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-371A-3P | 99.99 | 66.77 | 91 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.7% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- Data show that a disease-causing mutation of TRAPPC2, D47Y, failed to interact with either TRAPPC9 or TRAPPC8, suggesting that aspartate 47 in TRAPPC2 is at or near the site of interaction with TRAPPC9 or TRAPPC8. (PMID:21858081)
- TRAPPC8 modulates autophagy and secretory trafficking and is required for TBC1D14 to bind TRAPPIII. (PMID:26711178)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | trappc8 | ENSDARG00000038866 |
| mus_musculus | Trappc8 | ENSMUSG00000033382 |
| rattus_norvegicus | Trappc8 | ENSRNOG00000022202 |
| drosophila_melanogaster | l(3)76BDm | FBGN0260655 |
| caenorhabditis_elegans | trpp-8 | WBGENE00018512 |
Protein
Protein identifiers
Trafficking protein particle complex subunit 8 — Q9Y2L5 (reviewed: Q9Y2L5)
Alternative names: Protein TRS85 homolog
All UniProt accessions (6): Q9Y2L5, J3KSL8, J3QQJ5, J3QQS5, J3QR00, J3QSA1
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage. Maintains together with TBC1D14 the cycling pool of ATG9 required for initiation of autophagy. Involved in collagen secretion.
Subunit / interactions. Component of the multisubunit TRAPP (transport protein particle) complex, which includes TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12. Interacts with TBC1D14. Interacts (via C-terminus) with TMEM131 (via C-terminus); the interaction is direct and is involved in collagen secretion.
Subcellular location. Golgi apparatus. cis-Golgi network.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the TRS85 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2L5-1 | 1 | yes |
| Q9Y2L5-2 | 2 |
RefSeq proteins (1): NP_055754* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR024420 | TRAPP_III_complex_Trs85 | Family |
| IPR057651 | Ig_TPPC8_C | Domain |
| IPR058538 | Ig_TPPC8_2nd | Domain |
| IPR058540 | Ig_TPPC8_3rd | Domain |
| IPR058541 | Ig_TPPC8_1st | Domain |
Pfam: PF12739, PF24542, PF24544, PF24545, PF24546
UniProt features (21 total): sequence variant 9, sequence conflict 3, modified residue 3, splice variant 2, chain 1, region of interest 1, mutagenesis site 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2L5-F1 | 79.53 | 0.44 |
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): 273, 279, 309
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 1035–1040 | attenuates interaction with tmem131. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs |
MSigDB gene sets: 254 (showing top):
LI_CISPLATIN_RESISTANCE_DN, FAELT_B_CLL_WITH_VH_REARRANGEMENTS_DN, GOBP_VESICLE_LOCALIZATION, GNF2_BNIP2, GOBP_VESICLE_ORGANIZATION, AAGCCAT_MIR135A_MIR135B, KORKOLA_CHORIOCARCINOMA_DN, GOBP_VESICLE_TARGETING, TATTATA_MIR374, GENTILE_RESPONSE_CLUSTER_D3, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, chr18q12, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT
GO Biological Process (6): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), Golgi organization (GO:0007030), collagen biosynthetic process (GO:0032964), COPII vesicle coat assembly (GO:0048208), obsolete vesicle tethering (GO:0099022), vesicle-mediated transport (GO:0016192)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), TRAPP complex (GO:0030008), TRAPPIII protein complex (GO:1990072), Golgi apparatus (GO:0005794)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Rab regulation of trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| cellular anatomical structure | 2 |
| intercellular transport | 1 |
| intracellular transport | 1 |
| Golgi vesicle transport | 1 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| biosynthetic process | 1 |
| collagen metabolic process | 1 |
| vesicle coat assembly | 1 |
| protein-containing complex assembly | 1 |
| COPII-coated vesicle budding | 1 |
| transport | 1 |
| cellular process | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| vesicle tethering complex | 1 |
| intracellular protein-containing complex | 1 |
| Golgi apparatus | 1 |
| TRAPP complex | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1770 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRAPPC8 | TRAPPC2 | P0DI81 | 993 |
| TRAPPC8 | TRAPPC4 | Q9Y296 | 989 |
| TRAPPC8 | TRAPPC5 | Q8IUR0 | 980 |
| TRAPPC8 | TRAPPC13 | A5PLN9 | 973 |
| TRAPPC8 | TRAPPC11 | Q7Z392 | 971 |
| TRAPPC8 | TRAPPC12 | Q8WVT3 | 970 |
| TRAPPC8 | TRAPPC6A | O75865 | 966 |
| TRAPPC8 | TRAPPC1 | Q9Y5R8 | 966 |
| TRAPPC8 | TRAPPC10 | P48553 | 947 |
| TRAPPC8 | TRAPPC9 | Q96Q05 | 932 |
| TRAPPC8 | TRAPPC3 | O43617 | 916 |
| TRAPPC8 | TRAPPC2L | Q9UL33 | 845 |
| TRAPPC8 | TRAPPC6B | Q86SZ2 | 805 |
| TRAPPC8 | RAB1A | P11476 | 796 |
| TRAPPC8 | TBC1D14 | Q9P2M4 | 754 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRAPPC2L | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.560 |
| TRAPPC2L | TRAPPC8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MIS12 | SPC24 | psi-mi:“MI:0914”(association) | 0.530 |
| TRAPPC1 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.530 |
| TKT | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| TPCN2 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| TRAPPC12 | TRAPPC3 | psi-mi:“MI:0914”(association) | 0.530 |
| MYL6 | MYL6B | psi-mi:“MI:0914”(association) | 0.530 |
| TRAPPC8 | TRAPPC3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TRAPPC13 | TRAPPC8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TRAPPC8 | TRAPPC13 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TRAPPC8 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| Trappc11 | TRAPPC3 | psi-mi:“MI:0914”(association) | 0.350 |
| TRAPPC9 | TRAPPC8 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| TECPR1 | PLOD3 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| ACTR2 | psi-mi:“MI:0914”(association) | 0.350 | |
| ARL3 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| ARL8B | ARPC2 | psi-mi:“MI:0914”(association) | 0.350 |
| KRAS | ARPC1B | psi-mi:“MI:0914”(association) | 0.350 |
| TRAPPC11 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (126): TRAPPC8 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-RNA), TRAPPC8 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-MS), TRAPPC8 (Proximity Label-MS), TRAPPC8 (Proximity Label-MS)
ESM2 similar proteins: A0A0R4IES7, A0JN62, A0JNW5, A2AAE1, A2AGL3, A2RSJ4, A2RT67, A2RUS2, A2RV80, B0LPN4, B1H2P5, E7F240, E9Q401, O00507, O94967, P30957, P48553, P51593, Q14161, Q2LD37, Q3TLI0, Q3UHE1, Q3UVG3, Q3UX43, Q5F361, Q5M7Q1, Q5RAQ5, Q5ZJK1, Q658Y4, Q68CL5, Q6BDS2, Q6P6Y1, Q6TEP1, Q6VNB8, Q7TMY8, Q7TSG1, Q7Z6Z7, Q8BHY8, Q8CB44, Q8CGF6
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TRAPPC8 | “form complex” | “TRAPP III complex, TRAPPC2 variant” | binding |
| TRAPPC8 | “form complex” | “TRAPP III complex, TRAPPC2B variant” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 57 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 |
|---|---|---|---|
| COPII-mediated vesicle transport | 8 | 27.8× | 6e-08 |
| RAB GEFs exchange GTP for GDP on RABs | 10 | 26.4× | 1e-09 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 5 | 10.3× | 4e-03 |
| RHO GTPase Effectors | 7 | 10.1× | 6e-04 |
| PIP3 activates AKT signaling | 6 | 8.5× | 4e-03 |
| RAF/MAP kinase cascade | 6 | 7.8× | 4e-03 |
| Signaling by Rho GTPases | 8 | 5.8× | 4e-03 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 8 | 5.7× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete vesicle tethering | 10 | 198.3× | 2e-19 |
| COPII vesicle coat assembly | 7 | 98.3× | 6e-11 |
| peptidyl-tyrosine phosphorylation | 5 | 42.1× | 1e-05 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 12 | 32.6× | 3e-13 |
| protein autophosphorylation | 6 | 17.4× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
234 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 182 |
| Likely benign | 7 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4917 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:31846816:GCCTA:G | acceptor_loss | 1.0000 |
| 18:31846818:C:A | acceptor_loss | 1.0000 |
| 18:31846819:T:C | acceptor_loss | 1.0000 |
| 18:31849599:A:AC | donor_gain | 1.0000 |
| 18:31849600:C:CC | donor_gain | 1.0000 |
| 18:31852436:A:AC | donor_gain | 1.0000 |
| 18:31852437:C:CC | donor_gain | 1.0000 |
| 18:31852502:CCG:C | acceptor_gain | 1.0000 |
| 18:31852503:CG:C | acceptor_gain | 1.0000 |
| 18:31852503:CGC:C | acceptor_gain | 1.0000 |
| 18:31852505:C:CC | acceptor_gain | 1.0000 |
| 18:31852590:TTTA:T | donor_loss | 1.0000 |
| 18:31852591:TTA:T | donor_loss | 1.0000 |
| 18:31852592:TACCT:T | donor_loss | 1.0000 |
| 18:31852593:A:AG | donor_loss | 1.0000 |
| 18:31852664:C:CC | acceptor_gain | 1.0000 |
| 18:31853845:AAAC:A | donor_loss | 1.0000 |
| 18:31853846:AAC:A | donor_loss | 1.0000 |
| 18:31853848:C:A | donor_loss | 1.0000 |
| 18:31853885:T:TA | donor_gain | 1.0000 |
| 18:31853899:C:CT | donor_gain | 1.0000 |
| 18:31853900:T:TT | donor_gain | 1.0000 |
| 18:31853903:TTGA:T | donor_gain | 1.0000 |
| 18:31853904:TGAT:T | donor_gain | 1.0000 |
| 18:31853942:CACT:C | acceptor_gain | 1.0000 |
| 18:31853944:CT:C | acceptor_gain | 1.0000 |
| 18:31853946:C:CC | acceptor_gain | 1.0000 |
| 18:31853946:CTGTC:C | acceptor_loss | 1.0000 |
| 18:31853947:T:A | acceptor_loss | 1.0000 |
| 18:31855654:A:AC | donor_gain | 1.0000 |
AlphaMissense
9452 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:31874574:G:T | A620D | 1.000 |
| 18:31874602:A:G | S611P | 1.000 |
| 18:31874607:C:G | R609P | 1.000 |
| 18:31874610:C:T | G608E | 1.000 |
| 18:31874611:C:A | G608W | 1.000 |
| 18:31874611:C:G | G608R | 1.000 |
| 18:31874611:C:T | G608R | 1.000 |
| 18:31874627:G:C | H602Q | 1.000 |
| 18:31874627:G:T | H602Q | 1.000 |
| 18:31874628:T:G | H602P | 1.000 |
| 18:31874629:G:C | H602D | 1.000 |
| 18:31874645:C:A | W596C | 1.000 |
| 18:31874645:C:G | W596C | 1.000 |
| 18:31874647:A:G | W596R | 1.000 |
| 18:31874647:A:T | W596R | 1.000 |
| 18:31874688:C:G | R582P | 1.000 |
| 18:31874695:C:G | A580P | 1.000 |
| 18:31890754:C:G | R570P | 1.000 |
| 18:31890760:C:A | G568V | 1.000 |
| 18:31890760:C:T | G568D | 1.000 |
| 18:31890761:C:G | G568R | 1.000 |
| 18:31890764:C:G | A567P | 1.000 |
| 18:31890766:A:G | L566S | 1.000 |
| 18:31890769:A:C | I565R | 1.000 |
| 18:31890769:A:T | I565K | 1.000 |
| 18:31890776:G:C | H563D | 1.000 |
| 18:31890777:A:C | F562L | 1.000 |
| 18:31890777:A:T | F562L | 1.000 |
| 18:31890778:A:G | F562S | 1.000 |
| 18:31890779:A:G | F562L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001596 (18:31834921 T>C), RS1000002891 (18:31910586 T>C), RS1000029841 (18:31920503 TATAAA>T), RS1000039731 (18:31928294 T>C), RS1000068587 (18:31836317 T>C,G), RS1000082757 (18:31889335 C>G), RS1000102158 (18:31848258 G>A), RS1000135549 (18:31864245 T>C), RS1000157752 (18:31840567 A>G), RS1000178256 (18:31942038 T>C), RS1000234168 (18:31873372 A>C,G), RS1000272813 (18:31901281 G>C), RS1000296736 (18:31906468 C>T), RS1000310050 (18:31847277 A>G), RS1000355743 (18:31930878 T>A)
Disease associations
OMIM: gene MIM:614136 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| ginger extract | decreases expression, increases abundance | 1 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Oils, Volatile | decreases expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Potassium Dichromate | decreases expression | 1 |
| Selenium | decreases expression | 1 |
| Vitamin E | decreases expression | 1 |
| Cadmium Chloride | increases expression, increases abundance | 1 |
| Particulate Matter | decreases expression, increases abundance | 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.