INTS4
gene geneOn this page
Also known as INT4MGC16733MST093
Summary
INTS4 (integrator complex subunit 4, HGNC:25048) is a protein-coding gene on chromosome 11q14.1, encoding Integrator complex subunit 4 (Q96HW7). Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes. It is a common-essential gene (DepMap: required in 99.2% of cancer cell lines).
INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).
Source: NCBI Gene 92105 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 90 total
- Cancer dependency (DepMap): dependent in 99.2% of screened cell lines (common-essential)
- MANE Select transcript:
NM_033547
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25048 |
| Approved symbol | INTS4 |
| Name | integrator complex subunit 4 |
| Location | 11q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | INT4, MGC16733, MST093 |
| Ensembl gene | ENSG00000149262 |
| Ensembl biotype | protein_coding |
| OMIM | 611348 |
| Entrez | 92105 |
Gene structure
Transcript identifiers
Ensembl transcripts: 53 — 24 protein_coding, 18 nonsense_mediated_decay, 10 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000433818, ENST00000524766, ENST00000525931, ENST00000527522, ENST00000529807, ENST00000531059, ENST00000533180, ENST00000534064, ENST00000534408, ENST00000535943, ENST00000695096, ENST00000695097, ENST00000695098, ENST00000695099, ENST00000695100, ENST00000695101, ENST00000695102, ENST00000695103, ENST00000695104, ENST00000695105, ENST00000695303, ENST00000695304, ENST00000695305, ENST00000695306, ENST00000695307, ENST00000695308, ENST00000695309, ENST00000695310, ENST00000695311, ENST00000695312, ENST00000695313, ENST00000695314, ENST00000695315, ENST00000695316, ENST00000695317, ENST00000695318, ENST00000695319, ENST00000695320, ENST00000695321, ENST00000695332, ENST00000695333, ENST00000696971, ENST00000889292, ENST00000889293, ENST00000925639, ENST00000925640, ENST00000925641, ENST00000925642, ENST00000925643, ENST00000925644, ENST00000925645, ENST00000942459, ENST00000942460
RefSeq mRNA: 1 — MANE Select: NM_033547
NM_033547
CCDS: CCDS31644
Canonical transcript exons
ENST00000534064 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001469652 | 77978996 | 77979102 |
| ENSE00001469654 | 77991108 | 77991299 |
| ENSE00003482013 | 77955942 | 77956062 |
| ENSE00003505229 | 77960341 | 77960391 |
| ENSE00003534900 | 77981459 | 77981576 |
| ENSE00003561017 | 77907717 | 77907810 |
| ENSE00003562726 | 77938651 | 77938825 |
| ENSE00003578539 | 77894290 | 77894349 |
| ENSE00003580029 | 77903540 | 77903620 |
| ENSE00003590092 | 77924750 | 77924892 |
| ENSE00003592938 | 77901421 | 77901551 |
| ENSE00003605819 | 77921340 | 77921473 |
| ENSE00003636767 | 77941180 | 77941251 |
| ENSE00003655990 | 77928342 | 77928547 |
| ENSE00003660862 | 77918821 | 77918978 |
| ENSE00003664620 | 77922356 | 77922471 |
| ENSE00003665613 | 77958746 | 77958834 |
| ENSE00003667799 | 77960953 | 77961138 |
| ENSE00003963392 | 77878720 | 77879127 |
| ENSE00003963393 | 77994590 | 77994668 |
| ENSE00003963407 | 77883832 | 77883952 |
| ENSE00003963411 | 77891681 | 77891840 |
| ENSE00003963416 | 77891319 | 77891462 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 97.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.1524 / max 221.5980, expressed in 1797 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 121452 | 15.5953 | 1779 |
| 121453 | 1.2936 | 565 |
| 121454 | 1.2636 | 414 |
Top tissues by expression
261 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 97.42 | gold quality |
| pancreatic ductal cell | CL:0002079 | 95.50 | silver quality |
| adrenal tissue | UBERON:0018303 | 93.00 | gold quality |
| granulocyte | CL:0000094 | 91.76 | gold quality |
| right uterine tube | UBERON:0001302 | 91.39 | gold quality |
| tibial nerve | UBERON:0001323 | 90.97 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.47 | gold quality |
| body of pancreas | UBERON:0001150 | 90.44 | gold quality |
| ventricular zone | UBERON:0003053 | 90.33 | gold quality |
| spleen | UBERON:0002106 | 90.26 | gold quality |
| left ovary | UBERON:0002119 | 90.25 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.13 | gold quality |
| right ovary | UBERON:0002118 | 90.10 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.08 | gold quality |
| body of uterus | UBERON:0009853 | 90.03 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.92 | gold quality |
| bone marrow cell | CL:0002092 | 89.88 | gold quality |
| right lobe of liver | UBERON:0001114 | 89.80 | gold quality |
| endocervix | UBERON:0000458 | 89.78 | gold quality |
| sural nerve | UBERON:0015488 | 89.75 | gold quality |
| ectocervix | UBERON:0012249 | 89.61 | gold quality |
| lymph node | UBERON:0000029 | 89.29 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 89.17 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 89.10 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.04 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.99 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.96 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.93 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.87 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.83 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
9 targeting INTS4, 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-513C-5P | 99.50 | 68.42 | 1730 |
| HSA-MIR-514B-5P | 99.50 | 68.19 | 1766 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-3138 | 98.41 | 67.53 | 744 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-411-5P | 97.11 | 66.82 | 601 |
| HSA-MIR-6730-3P | 97.03 | 67.54 | 889 |
| HSA-MIR-873-3P | 96.84 | 66.09 | 786 |
| HSA-MIR-555 | 95.92 | 65.25 | 564 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.2% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- findings demonstrate that the integrator complex is essential for snRNA maturation and Cajal body homeostasis (PMID:22250197)
- INTS4 is a specific and conserved interaction partner of INTS9/11 that does not interact with either subunit individually. (PMID:29471365)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ints4 | ENSDARG00000102953 |
| mus_musculus | Ints4 | ENSMUSG00000025133 |
| rattus_norvegicus | Ints4 | ENSRNOG00000012552 |
| drosophila_melanogaster | IntS4 | FBGN0026679 |
| caenorhabditis_elegans | ints-4 | WBGENE00012234 |
Protein
Protein identifiers
Integrator complex subunit 4 — Q96HW7 (reviewed: Q96HW7)
All UniProt accessions (19): Q96HW7, A0A8C8UVZ7, A0A8Q3SHK8, A0A8Q3SHL8, A0A8Q3SHM4, A0A8Q3SHR8, A0A8Q3SHT4, A0A8Q3SHU3, A0A8Q3SII1, A0A8Q3WKB5, A0A8Q3WKB9, A0A8Q3WKC2, A0A8Q3WKC3, A0A8Q3WKC7, A0A8Q3WKC9, A0A8Q3WKW5, A0A8V8TLR7, E9PIM3, F8WAA7
UniProt curated annotations — full annotation on UniProt →
Function. Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes. The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA. The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs). Within the integrator complex, INTS4 acts as an scaffold that links INTS9 and INTS11. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex.
Subunit / interactions. Component of the Integrator complex, composed of core subunits INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, INTS11/CPSF3L, INTS12, INTS13, INTS14 and INTS15. The core complex associates with protein phosphatase 2A subunits PPP2CA and PPP2R1A, to form the Integrator-PP2A (INTAC) complex. INTS4 is part of the RNA endonuclease subcomplex, composed of INTS4, INTS9, INTS11 and inositol hexakisphosphate (InsP6). Interacts with BRAT1; interaction is required for the assembly of the RNA endonuclease subcomplex.
Subcellular location. Nucleus. Cytoplasm.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the Integrator subunit 4 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96HW7-1 | 1 | yes |
| Q96HW7-2 | 2 | |
| Q96HW7-3 | 3 |
RefSeq proteins (1): NP_291025* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR056235 | INTS4_8HBD | Domain |
| IPR057412 | INTS4_C | Domain |
Pfam: PF13646, PF20168, PF24493, PF25458
UniProt features (92 total): helix 49, strand 20, repeat 8, splice variant 5, turn 3, cross-link 2, mutagenesis site 2, chain 1, sequence conflict 1, modified residue 1
Structure
Experimental structures (PDB)
11 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8RC4 | ELECTRON MICROSCOPY | 3.1 |
| 7CUN | ELECTRON MICROSCOPY | 3.5 |
| 7BFP | ELECTRON MICROSCOPY | 3.56 |
| 7PKS | ELECTRON MICROSCOPY | 3.6 |
| 8RBZ | ELECTRON MICROSCOPY | 3.7 |
| 8R2D | ELECTRON MICROSCOPY | 3.9 |
| 8RBX | ELECTRON MICROSCOPY | 4.1 |
| 8YJB | ELECTRON MICROSCOPY | 4.1 |
| 7BFQ | ELECTRON MICROSCOPY | 4.15 |
| 7YCX | ELECTRON MICROSCOPY | 4.18 |
| 9VD9 | ELECTRON MICROSCOPY | 4.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96HW7-F1 | 83.40 | 0.49 |
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): 791, 791, 26
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 164–167 | decreased processing activity of the integrator complex. |
| 210 | decreased processing activity of the integrator complex. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807505 | RNA polymerase II transcribes snRNA genes |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 110 (showing top):
GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_RNA_SURVEILLANCE, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, GOBP_SNRNA_PROCESSING, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GOCC_INTEGRATOR_COMPLEX, GOCC_NUCLEOLUS, LIU_COMMON_CANCER_GENES, GOBP_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, TERAO_AOX4_TARGETS_HG_UP, REACTOME_RNA_POLYMERASE_II_TRANSCRIBES_SNRNA_GENES
GO Biological Process (3): snRNA processing (GO:0016180), regulation of transcription elongation by RNA polymerase II (GO:0034243), RNA polymerase II transcription initiation surveillance (GO:0160240)
GO Molecular Function (2): protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), integrator complex (GO:0032039), INTAC complex (GO:0160232)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
| Gene expression (Transcription) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| nuclear protein-containing complex | 2 |
| RNA processing | 1 |
| snRNA metabolic process | 1 |
| transcription elongation by RNA polymerase II | 1 |
| regulation of DNA-templated transcription elongation | 1 |
| transcription initiation at RNA polymerase II promoter | 1 |
| nuclear RNA surveillance | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| integrator complex | 1 |
Protein interactions and networks
STRING
1278 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| INTS4 | INTS11 | Q5TA45 | 983 |
| INTS4 | INTS9 | Q9NV88 | 937 |
| INTS4 | KIAA0513 | O60268 | 915 |
| INTS4 | INTS3 | Q68E01 | 890 |
| INTS4 | INTS1 | Q8N201 | 888 |
| INTS4 | INTS5 | Q6P9B9 | 852 |
| INTS4 | INTS7 | Q9NVH2 | 843 |
| INTS4 | INTS2 | Q9H0H0 | 831 |
| INTS4 | INTS12 | Q96CB8 | 810 |
| INTS4 | INTS10 | Q9NVR2 | 807 |
| INTS4 | WWC1 | Q8IX03 | 785 |
| INTS4 | INTS8 | Q75QN2 | 780 |
| INTS4 | INTS6 | Q9UL03 | 744 |
| INTS4 | INTS13 | Q9NVM9 | 717 |
| INTS4 | HAX1 | O00165 | 679 |
IntAct
152 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| INTS9 | INTS11 | psi-mi:“MI:0915”(physical association) | 0.940 |
| INTS9 | INTS11 | psi-mi:“MI:0914”(association) | 0.940 |
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| INTS11 | INTS4 | psi-mi:“MI:0915”(physical association) | 0.860 |
| INTS10 | INTS11 | psi-mi:“MI:0915”(physical association) | 0.740 |
| INTS13 | INTS11 | psi-mi:“MI:0915”(physical association) | 0.690 |
| INTS4 | INTS9 | psi-mi:“MI:0915”(physical association) | 0.680 |
| INTS4 | HGS | psi-mi:“MI:0915”(physical association) | 0.670 |
| HGS | INTS4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| FAF2 | UBB | psi-mi:“MI:0914”(association) | 0.640 |
| VSIG1 | TTI1 | psi-mi:“MI:0914”(association) | 0.640 |
| PMPCB | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (155): INTS4 (Two-hybrid), INTS4 (Two-hybrid), INTS4 (Two-hybrid), INTS4 (Affinity Capture-MS), INTS4 (Affinity Capture-MS), INTS4 (Affinity Capture-MS), INTS4 (Affinity Capture-MS), INTS4 (Affinity Capture-MS), INTS4 (Affinity Capture-MS), INTS4 (Affinity Capture-MS), INTS4 (Affinity Capture-MS), C7orf26 (Co-fractionation), CPSF3L (Co-fractionation), FAM98A (Co-fractionation), INTS4 (Co-fractionation)
ESM2 similar proteins: A0A1L8F8I9, A0A2R8QPS5, A1A5P5, A7S2N8, B0BM28, B4FGS2, B8AXB6, B8B624, B8JKF4, B9FM64, F1QNV4, F4IQJ2, P49842, P97564, Q08CY4, Q08DB2, Q0P5W1, Q0VA04, Q14AI0, Q2KI89, Q32PH0, Q3SYG4, Q3U0M1, Q4R804, Q5R629, Q61586, Q66I84, Q68F70, Q6DHG8, Q6GL75, Q6GMB0, Q6GN08, Q6GPP1, Q6NU25, Q6PA97, Q7T006, Q7XAM0, Q7Z3E5, Q811G0, Q8CIM8
Diamond homologs: Q54LH5, Q68F70, Q8CIM8, Q96HW7, Q9W3E1
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| INTS4 | “up-regulates activity” | POLR2A | binding |
| INTS4 | “up-regulates quantity” | DYNC1H1 | |
| INTS4 | “form complex” | “Integrator complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 159 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 |
|---|---|---|---|
| FGFR2 mutant receptor activation | 5 | 37.3× | 7e-06 |
| Spry regulation of FGF signaling | 5 | 35.0× | 9e-06 |
| Signaling by FGFR2 IIIa TM | 5 | 29.5× | 2e-05 |
| Abortive elongation of HIV-1 transcript in the absence of Tat | 6 | 29.2× | 3e-06 |
| Activation of HOX genes during differentiation | 6 | 25.8× | 7e-06 |
| Pausing and recovery of Tat-mediated HIV elongation | 7 | 25.3× | 2e-06 |
| Tat-mediated HIV elongation arrest and recovery | 7 | 25.3× | 2e-06 |
| RNA Pol II CTD phosphorylation and interaction with CE during HIV infection | 6 | 24.0× | 7e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| RNA polymerase II transcription initiation surveillance | 9 | 59.1× | 7e-12 |
| snRNA processing | 7 | 54.6× | 5e-09 |
| regulation of transcription elongation by RNA polymerase II | 8 | 47.5× | 1e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
90 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 70 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4410 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:77883827:CTTAC:C | donor_loss | 1.0000 |
| 11:77883828:TTAC:T | donor_loss | 1.0000 |
| 11:77883829:TACC:T | donor_loss | 1.0000 |
| 11:77891329:A:C | donor_gain | 1.0000 |
| 11:77891675:CCTGA:C | donor_loss | 1.0000 |
| 11:77891676:CTGA:C | donor_loss | 1.0000 |
| 11:77891677:TGAC:T | donor_loss | 1.0000 |
| 11:77891678:GAC:G | donor_loss | 1.0000 |
| 11:77891679:ACC:A | donor_loss | 1.0000 |
| 11:77901419:A:AC | donor_gain | 1.0000 |
| 11:77901419:AC:A | donor_gain | 1.0000 |
| 11:77901420:C:CC | donor_gain | 1.0000 |
| 11:77901420:CC:C | donor_gain | 1.0000 |
| 11:77901420:CCCT:C | donor_gain | 1.0000 |
| 11:77901547:ATAAT:A | acceptor_gain | 1.0000 |
| 11:77901548:TAAT:T | acceptor_gain | 1.0000 |
| 11:77901549:AAT:A | acceptor_gain | 1.0000 |
| 11:77901550:AT:A | acceptor_gain | 1.0000 |
| 11:77901552:C:CA | acceptor_loss | 1.0000 |
| 11:77901552:C:CC | acceptor_gain | 1.0000 |
| 11:77901553:T:C | acceptor_loss | 1.0000 |
| 11:77901554:A:C | acceptor_gain | 1.0000 |
| 11:77907714:AACCT:A | donor_loss | 1.0000 |
| 11:77907715:A:AT | donor_loss | 1.0000 |
| 11:77907716:C:CT | donor_loss | 1.0000 |
| 11:77918819:A:AT | donor_loss | 1.0000 |
| 11:77918820:C:CA | donor_loss | 1.0000 |
| 11:77918974:GGTAA:G | acceptor_gain | 1.0000 |
| 11:77918975:GTAA:G | acceptor_gain | 1.0000 |
| 11:77918977:AA:A | acceptor_gain | 1.0000 |
AlphaMissense
6312 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:77883838:A:G | W903R | 1.000 |
| 11:77883838:A:T | W903R | 1.000 |
| 11:77883870:A:G | L892P | 1.000 |
| 11:77891366:C:G | A849P | 1.000 |
| 11:77921377:A:G | L576P | 1.000 |
| 11:77922454:C:T | G511E | 1.000 |
| 11:77922455:C:G | G511R | 1.000 |
| 11:77922455:C:T | G511R | 1.000 |
| 11:77924855:A:G | L470P | 1.000 |
| 11:77924873:C:G | R464P | 1.000 |
| 11:77924892:C:G | D458H | 1.000 |
| 11:77928418:A:T | I432K | 1.000 |
| 11:77928427:A:G | L429P | 1.000 |
| 11:77928445:T:A | E423V | 1.000 |
| 11:77928448:T:A | D422V | 1.000 |
| 11:77928448:T:C | D422G | 1.000 |
| 11:77928448:T:G | D422A | 1.000 |
| 11:77928449:C:A | D422Y | 1.000 |
| 11:77928449:C:G | D422H | 1.000 |
| 11:77928450:G:C | N421K | 1.000 |
| 11:77928450:G:T | N421K | 1.000 |
| 11:77928460:T:G | D418A | 1.000 |
| 11:77938662:T:A | D385V | 1.000 |
| 11:77938662:T:G | D385A | 1.000 |
| 11:77938663:C:G | D385H | 1.000 |
| 11:77938665:T:A | E384V | 1.000 |
| 11:77938677:A:T | V380D | 1.000 |
| 11:77938686:C:T | G377E | 1.000 |
| 11:77941201:C:A | K323N | 1.000 |
| 11:77941201:C:G | K323N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000011356 (11:77906766 G>T), RS1000072979 (11:77912728 T>C), RS1000105559 (11:77956997 T>A), RS1000147614 (11:77912436 C>CT), RS1000189282 (11:77878553 C>A), RS1000204855 (11:77885736 T>C), RS1000235866 (11:77992402 A>T), RS1000248003 (11:77982583 G>A), RS1000268342 (11:77939859 A>C), RS1000276358 (11:77969441 T>C), RS1000335991 (11:77888485 A>G), RS1000347656 (11:77986538 G>A), RS1000404813 (11:77888161 T>C), RS1000418583 (11:77919830 A>G), RS1000532786 (11:77952103 A>T)
Disease associations
OMIM: gene MIM:611348 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007277_15 | Tourette syndrome | 5.000000e-06 |
| GCST90002396_472 | Mean reticulocyte volume | 2.000000e-09 |
| GCST90002402_382 | Platelet count | 2.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010701 | mean reticulocyte volume |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | affects sumoylation | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 1 |
| exemestane | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | increases abundance, affects cotreatment, increases oxidation | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 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.