H3-7
gene geneOn this page
Also known as p06H3.7
Summary
H3-7 (H3.7 histone (putative), HGNC:32060) is a protein-coding gene on chromosome 1q21.1, encoding Histone H3-7 (Q5TEC6). Core component of nucleosome.
Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is a member of the H3 family, but is found outside of the histone cluster. There is evidence that it is transcribed and has an intact CDS, but residue changes in the protein suggest that it may be on its way to becoming a psuedogene.
Source: NCBI Gene 440686 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 2 total
- MANE Select transcript:
NM_001372105
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:32060 |
| Approved symbol | H3-7 |
| Name | H3.7 histone (putative) |
| Location | 1q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | p06, H3.7 |
| Ensembl gene | ENSG00000273213 |
| Ensembl biotype | protein_coding |
| Entrez | 440686 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay
ENST00000392948, ENST00000609879, ENST00000650532
RefSeq mRNA: 2 — MANE Select: NM_001372105
NM_001355409, NM_001372105
CCDS: CCDS30842
Canonical transcript exons
ENST00000392948 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001513688 | 143905510 | 143905977 |
Expression profiles
Bgee: expression breadth ubiquitous, 183 present calls, max score 86.56.
Top tissues by expression
234 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ovary | UBERON:0002119 | 86.56 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.30 | gold quality |
| right ovary | UBERON:0002118 | 85.16 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 84.60 | gold quality |
| left adrenal gland | UBERON:0001234 | 84.58 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 84.40 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.15 | gold quality |
| adrenal cortex | UBERON:0001235 | 82.70 | gold quality |
| body of stomach | UBERON:0001161 | 82.67 | gold quality |
| adrenal gland | UBERON:0002369 | 82.67 | gold quality |
| ovary | UBERON:0000992 | 82.04 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 81.24 | gold quality |
| cerebellar cortex | UBERON:0002129 | 81.17 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 80.74 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 80.38 | gold quality |
| stomach | UBERON:0000945 | 79.70 | gold quality |
| cerebellum | UBERON:0002037 | 79.52 | gold quality |
| buccal mucosa cell | CL:0002336 | 76.49 | gold quality |
| monocyte | CL:0000576 | 76.14 | gold quality |
| spleen | UBERON:0002106 | 76.12 | gold quality |
| ventricular zone | UBERON:0003053 | 75.43 | gold quality |
| leukocyte | CL:0000738 | 75.29 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 74.68 | gold quality |
| stromal cell of endometrium | CL:0002255 | 74.19 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 74.04 | silver quality |
| medial globus pallidus | UBERON:0002477 | 73.98 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 73.86 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 72.97 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 72.86 | gold quality |
| spinal cord | UBERON:0002240 | 72.65 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.87 |
Regulation
Is transcription factor: no
Cross-species orthologs
23 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:173552 | ENSDARG00000051737 |
| danio_rerio | si:ch1073-153i20.2 | ENSDARG00000105345 |
| danio_rerio | zgc:173552 | ENSDARG00000110909 |
| danio_rerio | si:ch211-113a14.27 | ENSDARG00000111396 |
| danio_rerio | si:ch211-113a14.20 | ENSDARG00000112131 |
| danio_rerio | zgc:173552 | ENSDARG00000112175 |
| danio_rerio | si:ch211-113a14.23 | ENSDARG00000114334 |
| drosophila_melanogaster | His3:CG33812 | FBGN0053812 |
| caenorhabditis_elegans | WBGENE00001876 | |
| caenorhabditis_elegans | WBGENE00001880 | |
| caenorhabditis_elegans | WBGENE00001883 | |
| caenorhabditis_elegans | WBGENE00001887 | |
| caenorhabditis_elegans | WBGENE00001891 | |
| caenorhabditis_elegans | WBGENE00001899 | |
| caenorhabditis_elegans | WBGENE00001901 | |
| caenorhabditis_elegans | WBGENE00001906 | |
| caenorhabditis_elegans | WBGENE00001914 | |
| caenorhabditis_elegans | WBGENE00001916 | |
| caenorhabditis_elegans | WBGENE00001919 | |
| caenorhabditis_elegans | WBGENE00001923 | |
| caenorhabditis_elegans | WBGENE00001929 | |
| caenorhabditis_elegans | WBGENE00001933 | |
| caenorhabditis_elegans | WBGENE00001937 |
Paralogs (20): CENPA (ENSG00000115163), H3-3B (ENSG00000132475), H3-3A (ENSG00000163041), H3-4 (ENSG00000168148), H3C13 (ENSG00000183598), H3-5 (ENSG00000188375), H3C12 (ENSG00000197153), H3C4 (ENSG00000197409), H3C14 (ENSG00000203811), H3C15 (ENSG00000203852), H3Y2 (ENSG00000268799), H3Y1 (ENSG00000269466), H3C8 (ENSG00000273983), H3C6 (ENSG00000274750), H3C11 (ENSG00000275379), H3C1 (ENSG00000275714), H3C7 (ENSG00000277775), H3C10 (ENSG00000278828), H3C2 (ENSG00000286522), H3C3 (ENSG00000287080)
Protein
Protein identifiers
Histone H3-7 — Q5TEC6 (reviewed: Q5TEC6)
All UniProt accessions (2): A0A590UJL8, Q5TEC6
UniProt curated annotations — full annotation on UniProt →
Function. Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
Subunit / interactions. The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. During nucleosome assembly the chaperone ASF1A interacts with the histone H3-H4 heterodimer.
Subcellular location. Nucleus. Chromosome.
Post-translational modifications. Acetylation is generally linked to gene activation. Acetylation on Lys-10 (H3K9ac) impairs methylation at Arg-9 (H3R8me2s). Acetylation on Lys-19 (H3K18ac) and Lys-24 (H3K24ac) favors methylation at Arg-18 (H3R17me). Acetylation at Lys-123 (H3K122ac) by EP300/p300 plays a central role in chromatin structure: localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability. Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) by PADI4 impairs methylation and represses transcription. Asymmetric dimethylation at Arg-18 (H3R17me2a) by CARM1 is linked to gene activation. Symmetric dimethylation at Arg-9 (H3R8me2s) by PRMT5 is linked to gene repression. Asymmetric dimethylation at Arg-3 (H3R2me2a) by PRMT6 is linked to gene repression and is mutually exclusive with H3 Lys-5 methylation (H3K4me2 and H3K4me3). H3R2me2a is present at the 3’ of genes regardless of their transcription state and is enriched on inactive promoters, while it is absent on active promoters. Methylation at Lys-5 (H3K4me), Lys-37 (H3K36me) and Lys-80 (H3K79me) are linked to gene activation. Methylation at Lys-5 (H3K4me) facilitates subsequent acetylation of H3 and H4. Methylation at Lys-80 (H3K79me) is associated with DNA double-strand break (DSB) responses and is a specific target for TP53BP1. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are linked to gene repression. Methylation at Lys-10 (H3K9me) is a specific target for HP1 proteins (CBX1, CBX3 and CBX5) and prevents subsequent phosphorylation at Ser-11 (H3S10ph) and acetylation of H3 and H4. Methylation at Lys-5 (H3K4me) and Lys-80 (H3K79me) require preliminary monoubiquitination of H2B at ‘Lys-120’. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are enriched in inactive X chromosome chromatin. Monomethylation at Lys-57 (H3K56me1) by EHMT2/G9A in G1 phase promotes interaction with PCNA and is required for DNA replication. Phosphorylated at Thr-4 (H3T3ph) by HASPIN during prophase and dephosphorylated during anaphase. Phosphorylation at Ser-11 (H3S10ph) by AURKB is crucial for chromosome condensation and cell-cycle progression during mitosis and meiosis. In addition phosphorylation at Ser-11 (H3S10ph) by RPS6KA4 and RPS6KA5 is important during interphase because it enables the transcription of genes following external stimulation, like mitogens, stress, growth factors or UV irradiation and result in the activation of genes, such as c-fos and c-jun. Phosphorylation at Ser-11 (H3S10ph), which is linked to gene activation, prevents methylation at Lys-10 (H3K9me) but facilitates acetylation of H3 and H4. Phosphorylation at Ser-11 (H3S10ph) by AURKB mediates the dissociation of HP1 proteins (CBX1, CBX3 and CBX5) from heterochromatin. Phosphorylation at Ser-11 (H3S10ph) is also an essential regulatory mechanism for neoplastic cell transformation. Phosphorylated at Ser-29 (H3S28ph) by MAP3K20 isoform 1, RPS6KA5 or AURKB during mitosis or upon ultraviolet B irradiation. Phosphorylation at Thr-7 (H3T6ph) by PRKCB is a specific tag for epigenetic transcriptional activation that prevents demethylation of Lys-5 (H3K4me) by LSD1/KDM1A. At centromeres, specifically phosphorylated at Thr-12 (H3T11ph) from prophase to early anaphase, by DAPK3 and PKN1. Phosphorylation at Thr-12 (H3T11ph) by PKN1 or isoform M2 of PKM (PKM2) is a specific tag for epigenetic transcriptional activation that promotes demethylation of Lys-10 (H3K9me) by KDM4C/JMJD2C. Phosphorylation at Tyr-42 (H3Y41ph) by JAK2 promotes exclusion of CBX5 (HP1 alpha) from chromatin. Ubiquitinated. Lysine deamination at Lys-5 (H3K4all) to form allysine is mediated by LOXL2. Allysine formation by LOXL2 only takes place on H3K4me3 and results in gene repression. Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis. Succinylation at Lys-80 (H3K79succ) by KAT2A takes place with a maximum frequency around the transcription start sites of genes. It gives a specific tag for epigenetic transcription activation. Desuccinylation at Lys-123 (H3K122succ) by SIRT7 in response to DNA damage promotes chromatin condensation and double-strand breaks (DSBs) repair. Serine ADP-ribosylation constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage. Serine ADP-ribosylation at Ser-11 (H3S10ADPr) is mutually exclusive with phosphorylation at Ser-11 (H3S10ph) and impairs acetylation at Lys-10 (H3K9ac).
Similarity. Belongs to the histone H3 family.
RefSeq proteins (2): NP_001342338, NP_001359034* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000164 | Histone_H3/CENP-A | Family |
| IPR007125 | H2A/H2B/H3 | Domain |
| IPR009072 | Histone-fold | Homologous_superfamily |
Pfam: PF00125
UniProt features (116 total): modified residue 110, cross-link 3, initiator methionine 1, chain 1, region of interest 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5MR8 | X-RAY DIFFRACTION | 1.74 |
| 4H75 | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5TEC6-F1 | 86.42 | 0.71 |
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 (113): 5, 80, 81, 87, 108, 116, 116, 123, 123, 123, 123, 5, 123, 123, 123, 15, 19, 24, 5, 5 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 47 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, GOBP_CHROMOSOME_LOCALIZATION, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_ORGANELLE_FISSION, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_ORGANELLE_ASSEMBLY, GOBP_MITOTIC_CELL_CYCLE, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, GOBP_ORGANELLE_LOCALIZATION, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOBP_KINETOCHORE_ORGANIZATION, GOBP_NUCLEAR_CHROMOSOME_SEGREGATION, GOBP_METAPHASE_CHROMOSOME_ALIGNMENT, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN
GO Biological Process (0):
GO Molecular Function (3): DNA binding (GO:0003677), structural constituent of chromatin (GO:0030527), protein heterodimerization activity (GO:0046982)
GO Cellular Component (4): nucleosome (GO:0000786), nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| chromatin | 2 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| protein dimerization activity | 1 |
| protein-DNA complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
8476 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| H3-7 | H2AC20 | Q16777 | 998 |
| H3-7 | H2BC21 | Q16778 | 998 |
| H3-7 | H2AC19 | P20670 | 998 |
| H3-7 | H4C16 | P02304 | 997 |
| H3-7 | WDR5 | P61964 | 997 |
| H3-7 | H4C7 | Q99525 | 997 |
| H3-7 | CBX5 | P45973 | 995 |
| H3-7 | DNMT3L | Q9UJW3 | 994 |
| H3-7 | CBX3 | Q13185 | 991 |
| H3-7 | BRD4 | O60885 | 989 |
| H3-7 | DNMT3A | Q9Y6K1 | 987 |
| H3-7 | RAG2 | P55895 | 977 |
| H3-7 | DNMT1 | P26358 | 973 |
| H3-7 | CBX1 | P23197 | 973 |
| H3-7 | HDAC1 | Q13547 | 966 |
IntAct
110 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HSPA8 | GAK | psi-mi:“MI:0914”(association) | 0.760 |
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| ANXA9 | PPL | psi-mi:“MI:0914”(association) | 0.660 |
| AIPL1 | PDE5A | psi-mi:“MI:0914”(association) | 0.640 |
| H2BC1 | PPM1G | psi-mi:“MI:0914”(association) | 0.640 |
| MACROD1 | PARP1 | psi-mi:“MI:0914”(association) | 0.620 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| HSD3B2 | NARS1 | psi-mi:“MI:0914”(association) | 0.530 |
| LACC1 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| HERC3 | H3-7 | psi-mi:“MI:0914”(association) | 0.530 |
| H2AC20 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| C1orf174 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP7A | ATP4A | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF428 | PIP4K2A | psi-mi:“MI:0914”(association) | 0.530 |
| NASP | H4C16 | psi-mi:“MI:0914”(association) | 0.530 |
| TOMM20 | TPP1 | psi-mi:“MI:0914”(association) | 0.480 |
| CENPQ | CENPX | psi-mi:“MI:0914”(association) | 0.350 |
| CCNYL1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| CDK15 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| CDX1 | ZNF724 | psi-mi:“MI:0914”(association) | 0.350 |
| RRP7A | MAPT | psi-mi:“MI:0914”(association) | 0.350 |
| CENPA | OIP5 | psi-mi:“MI:0914”(association) | 0.350 |
ESM2 similar proteins: A2XHJ3, C6Y4D0, G2TRL2, O60076, O97484, P06353, P06902, P15512, P16890, P22843, P41353, P59169, P68431, P68432, P68433, P69071, P69074, P69076, P69078, P69149, P69150, P69244, P69245, P80553, Q0JCT1, Q16695, Q22RG7, Q27489, Q27490, Q2Z2F4, Q3C2E5, Q3E835, Q55BN9, Q55BP0, Q5MYA4, Q5TEC6, Q64400, Q6LBF0, Q6LED0, Q6NXT2
Diamond homologs: A2XHJ3, A2Y533, A5DWE2, A5PK61, C0HL66, C0HL67, P02299, P02301, P02302, P06352, P08437, P08898, P08903, P09988, P22843, P50564, P59169, P59226, P68427, P68428, P68429, P68430, P68431, P68432, P68433, P69071, P69072, P69073, P69074, P69075, P69076, P69077, P69078, P69079, P69244, P69245, P69246, P69248, P80553, P84227
SIGNOR signaling
12 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SLBP | “up-regulates quantity by expression” | H3-2 | “translation regulation” |
| BAZ2B | “down-regulates activity” | H3-2 | binding |
| KAT2A | “down-regulates activity” | H3-2 | acetylation |
| KAT2B | “down-regulates activity” | H3-2 | acetylation |
| “SAGA complex” | “down-regulates activity” | H3-2 | acetylation |
| KDM3A | “up-regulates activity” | H3-2 | demethylation |
| SIRT7 | “up-regulates activity” | H3-2 | deacetylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 139 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 |
|---|---|---|---|
| Nucleosome assembly | 5 | 27.7× | 4e-05 |
| Deposition of new CENPA-containing nucleosomes at the centromere | 10 | 18.4× | 7e-08 |
| SIRT1 negatively regulates rRNA expression | 9 | 17.8× | 4e-07 |
| FXIIa activates plasma kallikrein-kinin system | 8 | 16.1× | 5e-06 |
| Packaging Of Telomere Ends | 6 | 15.3× | 6e-05 |
| RNA Polymerase I Promoter Opening | 7 | 15.0× | 4e-05 |
| Chromosome Maintenance | 6 | 14.8× | 7e-05 |
| DNA methylation | 7 | 14.5× | 4e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| heterochromatin formation | 9 | 18.2× | 1e-06 |
| nucleosome assembly | 9 | 10.0× | 1e-04 |
| double-strand break repair | 6 | 9.7× | 6e-03 |
| chromatin organization | 9 | 7.1× | 2e-03 |
| DNA damage response | 11 | 4.7× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
2 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
89 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:143905798:T:TA | donor_gain | 0.7600 |
| 1:143905730:AAACT:A | donor_gain | 0.7500 |
| 1:143905912:T:TA | donor_gain | 0.7400 |
| 1:143905858:TC:T | donor_gain | 0.6200 |
| 1:143905855:TCTTC:T | donor_gain | 0.5900 |
| 1:143905753:CCAG:C | donor_gain | 0.5800 |
| 1:143905567:C:CA | donor_gain | 0.5200 |
| 1:143905558:AGG:A | donor_gain | 0.4600 |
| 1:143905752:A:AC | donor_gain | 0.4600 |
| 1:143905753:C:CC | donor_gain | 0.4600 |
| 1:143905583:G:T | donor_gain | 0.4500 |
| 1:143905683:T:TA | donor_gain | 0.4500 |
| 1:143905925:G:A | donor_gain | 0.4500 |
| 1:143905752:ACCAG:A | donor_gain | 0.4400 |
| 1:143905753:CCAGC:C | donor_gain | 0.4400 |
| 1:143905748:GCGT:G | donor_loss | 0.4300 |
| 1:143905749:CGTA:C | donor_loss | 0.4300 |
| 1:143905750:GT:G | donor_loss | 0.4300 |
| 1:143905751:T:TG | donor_loss | 0.4300 |
| 1:143905752:A:AA | donor_loss | 0.4300 |
| 1:143905753:C:CG | donor_loss | 0.4300 |
| 1:143905775:G:A | donor_gain | 0.4300 |
| 1:143905558:AGGC:A | donor_gain | 0.4100 |
| 1:143905568:C:A | donor_gain | 0.4000 |
| 1:143905596:T:TA | donor_gain | 0.4000 |
| 1:143905717:G:GA | acceptor_gain | 0.4000 |
| 1:143905754:C:G | donor_loss | 0.3900 |
| 1:143905772:C:A | acceptor_gain | 0.3900 |
| 1:143905816:C:CA | donor_gain | 0.3900 |
| 1:143905940:G:A | donor_gain | 0.3900 |
AlphaMissense
862 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:143905712:G:C | F85L | 0.910 |
| 1:143905712:G:T | F85L | 0.910 |
| 1:143905714:A:G | F85L | 0.910 |
| 1:143905763:G:C | F68L | 0.909 |
| 1:143905763:G:T | F68L | 0.909 |
| 1:143905765:A:G | F68L | 0.909 |
| 1:143905952:C:A | K5N | 0.861 |
| 1:143905952:C:G | K5N | 0.861 |
| 1:143905799:C:A | Q56H | 0.830 |
| 1:143905799:C:G | Q56H | 0.830 |
| 1:143905812:A:G | I52T | 0.828 |
| 1:143905910:C:A | K19N | 0.801 |
| 1:143905910:C:G | K19N | 0.801 |
| 1:143905856:C:A | K37N | 0.768 |
| 1:143905856:C:G | K37N | 0.768 |
| 1:143905730:A:C | F79L | 0.758 |
| 1:143905730:A:T | F79L | 0.758 |
| 1:143905732:A:G | F79L | 0.758 |
| 1:143905809:C:G | R53P | 0.758 |
| 1:143905758:C:G | R70P | 0.754 |
| 1:143905749:C:G | R73P | 0.738 |
| 1:143905652:G:C | F105L | 0.733 |
| 1:143905652:G:T | F105L | 0.733 |
| 1:143905654:A:G | F105L | 0.733 |
| 1:143905806:C:G | R54P | 0.733 |
| 1:143905818:C:G | R50P | 0.729 |
| 1:143905937:C:A | K10N | 0.728 |
| 1:143905937:C:G | K10N | 0.728 |
| 1:143905824:G:T | A48D | 0.727 |
| 1:143905895:T:A | K24N | 0.718 |
dbSNP variants (sampled 300 via entrez): RS1156929433 (1:143903097 C>T), RS1157042980 (1:143903836 C>T), RS1157280492 (1:143902329 GA>G,GAA), RS1157324457 (1:143903149 G>A,T), RS1157807124 (1:143903415 C>T), RS1157997993 (1:143904687 C>A,T), RS1158140485 (1:143906799 C>T), RS1158163975 (1:143901953 T>G), RS1158265921 (1:143907715 G>A,C), RS1158281554 (1:143902843 C>CCA), RS1158473865 (1:143905365 G>A,C,T), RS1158570697 (1:143903325 C>A,G,T), RS1159402450 (1:143904659 AC>A), RS1159408857 (1:143907600 C>T), RS1159698047 (1:143906688 A>C)
Disease associations
OMIM: gene `` | 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
11 total (human), top 11 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| ferrous chloride | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Doxorubicin | affects response to substance | 1 |
| Fluorouracil | decreases expression | 1 |
| Furaldehyde | affects cotreatment, affects localization, increases expression | 1 |
| Ivermectin | increases expression | 1 |
| Oxygen | decreases expression | 1 |
| Sodium Chloride | increases expression, affects cotreatment, affects localization | 1 |
| Thiram | 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.