DELE1
gene geneOn this page
Also known as DELE
Summary
DELE1 (DAP3 binding cell death enhancer 1, HGNC:28969) is a protein-coding gene on chromosome 5q31.3, encoding DAP3-binding cell death enhancer 1 (Q14154). Protein kinase activator that acts as a key activator of the integrated stress response (ISR) following various stresses, such as iron deficiency, mitochondrial stress or mitochondrial DNA breaks.
Enables protein kinase binding activity and protein serine/threonine kinase activator activity. Involved in several processes, including HRI-mediated signaling; positive regulation of mitophagy; and response to iron ion starvation. Located in mitochondrial inner membrane. Is active in cytosol and mitochondrial outer membrane.
Source: NCBI Gene 9812 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 116 total
- MANE Select transcript:
NM_014773
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28969 |
| Approved symbol | DELE1 |
| Name | DAP3 binding cell death enhancer 1 |
| Location | 5q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DELE |
| Ensembl gene | ENSG00000081791 |
| Ensembl biotype | protein_coding |
| OMIM | 615741 |
| Entrez | 9812 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 12 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000194118, ENST00000432126, ENST00000502729, ENST00000506775, ENST00000507481, ENST00000508751, ENST00000509110, ENST00000895929, ENST00000895930, ENST00000895931, ENST00000895932, ENST00000924856, ENST00000959461, ENST00000959462, ENST00000959463
RefSeq mRNA: 2 — MANE Select: NM_014773
NM_001142603, NM_014773
CCDS: CCDS4268
Canonical transcript exons
ENST00000432126 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000447191 | 141928151 | 141928298 |
| ENSE00000447198 | 141937198 | 141937357 |
| ENSE00000766679 | 141934494 | 141934586 |
| ENSE00000766683 | 141929989 | 141930074 |
| ENSE00000766684 | 141929582 | 141929740 |
| ENSE00000766686 | 141925410 | 141925527 |
| ENSE00000814316 | 141924581 | 141924695 |
| ENSE00001157065 | 141930178 | 141930274 |
| ENSE00001747703 | 141938521 | 141942047 |
| ENSE00001862276 | 141923871 | 141923972 |
| ENSE00003546685 | 141933259 | 141933401 |
| ENSE00003641318 | 141934240 | 141934398 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 97.70.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 61.8155 / max 320.8463, expressed in 1826 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 59054 | 31.2524 | 1817 |
| 59055 | 28.7983 | 1818 |
| 59056 | 1.7648 | 1095 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 97.70 | gold quality |
| apex of heart | UBERON:0002098 | 97.38 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.19 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.88 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.87 | gold quality |
| body of uterus | UBERON:0009853 | 96.62 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.62 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.53 | gold quality |
| rectum | UBERON:0001052 | 96.46 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.37 | gold quality |
| right lung | UBERON:0002167 | 96.32 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.31 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.25 | gold quality |
| granulocyte | CL:0000094 | 96.24 | gold quality |
| endocervix | UBERON:0000458 | 96.22 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.15 | gold quality |
| transverse colon | UBERON:0001157 | 96.14 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.13 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.07 | gold quality |
| monocyte | CL:0000576 | 96.03 | gold quality |
| spleen | UBERON:0002106 | 96.01 | gold quality |
| mononuclear cell | CL:0000842 | 95.93 | gold quality |
| left ovary | UBERON:0002119 | 95.91 | gold quality |
| ectocervix | UBERON:0012249 | 95.89 | gold quality |
| body of stomach | UBERON:0001161 | 95.88 | gold quality |
| leukocyte | CL:0000738 | 95.84 | gold quality |
| right ovary | UBERON:0002118 | 95.83 | gold quality |
| left uterine tube | UBERON:0001303 | 95.79 | gold quality |
| cardiac ventricle | UBERON:0002082 | 95.79 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.74 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
111 targeting DELE1, 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-3913-5P | 99.78 | 67.26 | 968 |
| HSA-MIR-370-5P | 99.78 | 66.81 | 706 |
| HSA-MIR-3129-5P | 99.75 | 70.46 | 914 |
Literature-anchored findings (GeneRIF, showing 7)
- identifies a novel DAP3-binding protein termed death ligand signal enhancer (DELE); demonstrates the biological significance of DELE for apoptosis signal mediated by death receptors (PMID:20563667)
- the mitochondrial protease OMA1 and the poorly characterized protein DELE1, together with HRI, constitute the missing pathway that is triggered by mitochondrial stress; these findings could be used to inform future strategies to modulate the cellular response to mitochondrial dysfunction in the context of human disease (PMID:32132706)
- mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway; the OMA1-DELE1-HRI pathway represents a potential therapeutic target that could enable fine-tuning of the integrated stress response for beneficial outcomes in diseases that involve mitochondrial dysfunction (PMID:32132707)
- The Mitochondrial PHB2/OMA1/DELE1 Pathway Cooperates with Endoplasmic Reticulum Stress to Facilitate the Response to Chemotherapeutics in Ovarian Cancer. (PMID:35163244)
- Death associated protein3 (DAP3) and DAP3 binding cell death enhancer1 (DELE1) in human colorectal cancer, and their impacts on clinical outcome and chemoresistance. (PMID:36382667)
- DELE1 is protective for mitochondrial cardiomyopathy. (PMID:36539111)
- DELE1 haploinsufficiency causes resistance to mitochondrial stress-induced apoptosis in monosomy 5/del(5q) AML. (PMID:38102204)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dele1 | ENSDARG00000104789 |
| mus_musculus | Dele1 | ENSMUSG00000024442 |
| rattus_norvegicus | Dele1 | ENSRNOG00000019276 |
| caenorhabditis_elegans | WBGENE00004759 |
Paralogs (4): SEL1L (ENSG00000071537), SEL1L3 (ENSG00000091490), SEL1L2 (ENSG00000101251), LRP2BP (ENSG00000109771)
Protein
Protein identifiers
DAP3-binding cell death enhancer 1 — Q14154 (reviewed: Q14154)
Alternative names: DAP3-binding cell death enhancer 1, long form, Death ligand signal enhancer
All UniProt accessions (3): Q14154, D6RBI8, H0YA48
UniProt curated annotations — full annotation on UniProt →
Function. Protein kinase activator that acts as a key activator of the integrated stress response (ISR) following various stresses, such as iron deficiency, mitochondrial stress or mitochondrial DNA breaks. Detects impaired protein import and processing in mitochondria, activating the ISR. May also required for the induction of death receptor-mediated apoptosis through the regulation of caspase activation. Protein kinase activator that activates the ISR in response to iron deficiency: iron deficiency impairs mitochondrial import, promoting DELE1 localization at the mitochondrial surface, where it binds and activates EIF2AK1/HRI to trigger the ISR. Protein kinase activator generated by protein cleavage in response to mitochondrial stress, which accumulates in the cytosol and specifically binds to and activates the protein kinase activity of EIF2AK1/HRI. It thereby activates the integrated stress response (ISR): EIF2AK1/HRI activation promotes eIF-2-alpha (EIF2S1) phosphorylation, leading to a decrease in global protein synthesis and the induction of selected genes, including the transcription factor ATF4, the master transcriptional regulator of the ISR. Also acts as an activator of PRKN-independent mitophagy: activates the protein kinase activity of EIF2AK1/HRI in response to mitochondrial damage, promoting eIF-2-alpha (EIF2S1) phosphorylation, leading to mitochondrial localization of EIF2S1 followed by induction of mitophagy.
Subunit / interactions. Interacts with DAP3. Interacts (via TPR repeats) with EIF2AK1/HRI; activating the protein kinase activity of EIF2AK1/HRI, thereby promoting the integrated stress response (ISR). Homooctamer; oligomerization is required to activate EIF2AK1/HRI. Interacts (via TPR repeats) with EIF2AK1/HRI; activating the protein kinase activity of EIF2AK1/HRI, thereby promoting the integrated stress response (ISR).
Subcellular location. Mitochondrion. Mitochondrion outer membrane. Mitochondrion inner membrane Cytoplasm. Cytosol.
Tissue specificity. Detected in liver, skeletal muscle, kidney, pancreas, spleen, thyroid, testis, ovary, small intestine and colon.
Post-translational modifications. Unstable protein in absence of stress: imported in the mitochondrial matrix following processing by the mitochondrial-processing peptidase (MPP), where it is degraded by LONP1. Stabilized in response to iron deficiency: iron deficiency impairs mitochondrial import, promoting localization at the mitochondrial surface and stabilization. Cleaved by OMA1 in response to mitochondrial stress, generating the DAP3-binding cell death enhancer 1 short form (DELE1(S) or S-DELE1) that accumulates in the cytosol and activates the protein kinase activity of EIF2AK1/HRI. Protein cleavage by OMA1 can take place at different positions, and apparently does not require a specific sequence motif. Ubiquitinated and degraded by the SIFI complex once the mitochondrial stress has been resolved, thereby providing stress response silencing. Within the SIFI complex, UBR4 initiates ubiquitin chain that are further elongated or branched by KCMF1.
Domain organisation. The TPR repeats bind to and activate EIF2AK1/HRI.
Similarity. Belongs to the DELE1 family.
RefSeq proteins (2): NP_001136075, NP_055588* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006597 | Sel1-like | Repeat |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR052748 | ISR_Activator | Family |
Pfam: PF08238
UniProt features (29 total): mutagenesis site 8, repeat 7, sequence variant 5, region of interest 2, chain 2, transit peptide 1, propeptide 1, short sequence motif 1, compositionally biased region 1, site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8D9X | ELECTRON MICROSCOPY | 3.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14154-F1 | 61.63 | 0.36 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 142–143 (cleavage; by oma1)
Mutagenesis-validated functional residues (8):
| Position | Phenotype |
|---|---|
| 239–251 | impaired oligomerization and ability to activate eif2ak1/hri. |
| 239 | impaired oligomerization. |
| 242–251 | impaired oligomerization and ability to activate eif2ak1/hri. |
| 242 | impaired oligomerization. |
| 244 | impaired oligomerization and ability to activate eif2ak1/hri. |
| 250–251 | impaired oligomerization and ability to activate eif2ak1/hri. |
| 403 | impaired oligomerization; when associated with s-431. |
| 431 | impaired oligomerization; when associated with s-403. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9840373 | Cellular response to mitochondrial stress |
MSigDB gene sets: 137 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, RRAGTTGT_UNKNOWN, GOBP_REGULATION_OF_AUTOPHAGY, HOEGERKORP_CD44_TARGETS_TEMPORAL_DN, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GOBP_MACROAUTOPHAGY, GOMF_KINASE_ACTIVATOR_ACTIVITY, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, BROWNE_HCMV_INFECTION_14HR_DN, GOBP_DNA_DAMAGE_RESPONSE
GO Biological Process (10): DNA damage response (GO:0006974), extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625), cellular response to stress (GO:0033554), HRI-mediated signaling (GO:0140468), positive regulation of mitophagy (GO:1901526), response to iron ion starvation (GO:1990641), mitophagy (GO:0000423), translational initiation (GO:0006413), apoptotic process (GO:0006915), protein localization to mitochondrion (GO:0070585)
GO Molecular Function (2): protein serine/threonine kinase activator activity (GO:0043539), protein binding (GO:0005515)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), mitochondrial inner membrane (GO:0005743), cytosol (GO:0005829), cytoplasm (GO:0005737), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Cellular responses to stress | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| mitochondrial membrane | 2 |
| cellular response to stress | 1 |
| extrinsic apoptotic signaling pathway | 1 |
| response to stress | 1 |
| cellular response to stimulus | 1 |
| integrated stress response signaling | 1 |
| mitophagy | 1 |
| positive regulation of macroautophagy | 1 |
| regulation of mitophagy | 1 |
| positive regulation of autophagy of mitochondrion | 1 |
| response to metal ion starvation | 1 |
| autophagy of mitochondrion | 1 |
| macroautophagy | 1 |
| formation of translation initiation ternary complex | 1 |
| translation | 1 |
| metabolic process | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| protein localization to organelle | 1 |
| protein serine/threonine kinase activity | 1 |
| protein kinase activator activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle outer membrane | 1 |
| organelle inner membrane | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
668 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DELE1 | OMA1 | Q96E52 | 758 |
| DELE1 | TOR1A | O14656 | 714 |
| DELE1 | DAP3 | P51398 | 662 |
| DELE1 | LMNA | P02545 | 654 |
| DELE1 | ENO2 | P09104 | 648 |
| DELE1 | UBB | P02248 | 593 |
| DELE1 | CLPB | Q9H078 | 567 |
| DELE1 | ATF5 | Q9Y2D1 | 484 |
| DELE1 | RBM27 | Q9P2N5 | 436 |
| DELE1 | LONP1 | P36776 | 426 |
| DELE1 | THAP1 | Q9NVV9 | 424 |
| DELE1 | TOR1B | O14657 | 424 |
| DELE1 | HPCA | P32076 | 423 |
| DELE1 | EIF2AK1 | Q9BQI3 | 399 |
| DELE1 | EIF2A | Q9BY44 | 391 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BRAF | HRAS | psi-mi:“MI:0914”(association) | 0.940 |
| DELE1 | CRX | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRX | DELE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATP5PB | DELE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DELE1 | DNM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DELE1 | TOR1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| DELE1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| DELE1 | LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| NDUFS1 | DELE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLF11 | DELE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUP58 | DELE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | DELE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (12): KIAA0141 (Two-hybrid), KIAA0141 (Two-hybrid), EIF2AK1 (Affinity Capture-MS), EIF2AK1 (Affinity Capture-MS), KIAA0141 (Affinity Capture-MS), KIAA0141 (Affinity Capture-MS), KIAA0141 (Affinity Capture-RNA), EIF2AK1 (Affinity Capture-MS), KIAA0141 (Affinity Capture-MS), KIAA0141 (Affinity Capture-MS), KIAA0141 (PCA), KIAA0141 (PCA)
ESM2 similar proteins: A1L3T7, A2A3L6, A4IFI1, A7E3N7, A8MYJ7, A8VU90, O94761, O94812, O95153, O95382, P97680, Q0P5G1, Q13671, Q14154, Q3UYR4, Q4V896, Q53GL7, Q569K6, Q58CQ5, Q58EX7, Q66H85, Q6DT37, Q6F5E8, Q6ZVH7, Q76MJ5, Q7TNF8, Q7Z3H0, Q80UU1, Q80UW5, Q8BWA8, Q8BXP5, Q8BYG0, Q8CIE4, Q8CJ00, Q8IYJ3, Q8NAG6, Q8TE82, Q91WA6, Q91WE1, Q921Q7
Diamond homologs: P60924, Q14154, Q9DCV6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
116 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 85 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1602 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:141928148:CAG:C | acceptor_loss | 1.0000 |
| 5:141928299:G:GG | donor_gain | 1.0000 |
| 5:141930244:C:G | donor_gain | 1.0000 |
| 5:141934238:AGGC:A | acceptor_gain | 1.0000 |
| 5:141934239:GGCG:G | acceptor_gain | 1.0000 |
| 5:141923969:CGAGG:C | donor_loss | 0.9900 |
| 5:141923971:AGG:A | donor_loss | 0.9900 |
| 5:141923972:GGTAA:G | donor_loss | 0.9900 |
| 5:141923973:G:A | donor_loss | 0.9900 |
| 5:141923974:T:A | donor_loss | 0.9900 |
| 5:141928149:A:AG | acceptor_gain | 0.9900 |
| 5:141928149:AG:A | acceptor_gain | 0.9900 |
| 5:141928150:G:A | acceptor_gain | 0.9900 |
| 5:141928150:G:GG | acceptor_gain | 0.9900 |
| 5:141928150:GGGC:G | acceptor_gain | 0.9900 |
| 5:141928294:CTCCT:C | donor_gain | 0.9900 |
| 5:141928295:TCCT:T | donor_gain | 0.9900 |
| 5:141928296:CCT:C | donor_gain | 0.9900 |
| 5:141928297:CT:C | donor_gain | 0.9900 |
| 5:141928298:TGTG:T | donor_loss | 0.9900 |
| 5:141928299:G:GA | donor_loss | 0.9900 |
| 5:141928300:TGA:T | donor_loss | 0.9900 |
| 5:141928301:GAGT:G | donor_loss | 0.9900 |
| 5:141928302:AGT:A | donor_loss | 0.9900 |
| 5:141929576:TTCCA:T | acceptor_loss | 0.9900 |
| 5:141929578:CCAGC:C | acceptor_loss | 0.9900 |
| 5:141929579:CAGCA:C | acceptor_loss | 0.9900 |
| 5:141929580:A:AG | acceptor_gain | 0.9900 |
| 5:141929580:A:AT | acceptor_loss | 0.9900 |
| 5:141929581:G:GG | acceptor_gain | 0.9900 |
AlphaMissense
3306 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:141933355:G:A | G284D | 0.993 |
| 5:141937207:A:C | S387R | 0.993 |
| 5:141937209:C:A | S387R | 0.993 |
| 5:141937209:C:G | S387R | 0.993 |
| 5:141937223:G:A | G392E | 0.991 |
| 5:141937222:G:A | G392R | 0.990 |
| 5:141937222:G:C | G392R | 0.990 |
| 5:141934509:G:T | G358W | 0.989 |
| 5:141934575:G:C | A380P | 0.989 |
| 5:141934262:C:A | A307D | 0.988 |
| 5:141934264:G:C | A308P | 0.988 |
| 5:141933318:G:C | A272P | 0.987 |
| 5:141933345:T:G | Y281D | 0.987 |
| 5:141934378:G:C | A346P | 0.987 |
| 5:141930274:G:A | G252R | 0.986 |
| 5:141930274:G:C | G252R | 0.986 |
| 5:141933354:G:C | G284R | 0.986 |
| 5:141934509:G:A | G358R | 0.986 |
| 5:141934509:G:C | G358R | 0.986 |
| 5:141934510:G:A | G358E | 0.986 |
| 5:141930267:C:A | N249K | 0.985 |
| 5:141930267:C:G | N249K | 0.985 |
| 5:141934564:T:C | L376P | 0.984 |
| 5:141933259:G:A | G252E | 0.983 |
| 5:141933307:T:C | F268S | 0.983 |
| 5:141937282:T:G | Y412D | 0.983 |
| 5:141933315:G:C | A271P | 0.982 |
| 5:141934286:C:A | A315D | 0.982 |
| 5:141934295:G:C | R318P | 0.982 |
| 5:141937220:T:C | L391P | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000284609 (5:141927042 T>C), RS1000465484 (5:141922030 C>A,T), RS1000649715 (5:141922859 A>G), RS1000840304 (5:141937998 G>A), RS1000894208 (5:141937598 G>A), RS1001004538 (5:141925649 T>C,G), RS1001233574 (5:141931429 T>C), RS1001326536 (5:141927622 C>G,T), RS1001379079 (5:141927981 T>G), RS1001461217 (5:141926265 C>T), RS1001625024 (5:141933473 C>A), RS1001803026 (5:141925302 C>G,T), RS1001886839 (5:141922008 T>A), RS1001961117 (5:141931365 G>A,T), RS1002016004 (5:141932798 A>G)
Disease associations
OMIM: gene MIM:615741 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST012322_31 | Triglyceride levels x SSRI defined daily dose interaction in schizophrenia or bipolar disorder | 3.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 3 |
| quercitrin | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Manganese | decreases expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Acrylamide | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C8SY | HeLa S3 DELE1 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.