H1-6
gene geneOn this page
Also known as H1t
Summary
H1-6 (H1.6 linker histone, cluster member, HGNC:4720) is a protein-coding gene on chromosome 6p22.2, encoding Histone H1t (P22492). Testis-specific histone H1 that forms less compacted chromatin compared to other H1 histone subtypes.
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 intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6.
Source: NCBI Gene 3010 — RefSeq curated summary.
At a glance
- GWAS associations: 38
- Clinical variants (ClinVar): 96 total
- MANE Select transcript:
NM_005323
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4720 |
| Approved symbol | H1-6 |
| Name | H1.6 linker histone, cluster member |
| Location | 6p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | H1t |
| Ensembl gene | ENSG00000187475 |
| Ensembl biotype | protein_coding |
| OMIM | 142712 |
| Entrez | 3010 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000338379
RefSeq mRNA: 1 — MANE Select: NM_005323
NM_005323
CCDS: CCDS34349
Canonical transcript exons
ENST00000338379 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001379722 | 26107412 | 26108135 |
Expression profiles
Bgee: expression breadth broad, 50 present calls, max score 87.71.
FANTOM5 (CAGE): breadth broad, TPM avg 5.0806 / max 2730.4174, expressed in 403 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72306 | 5.0806 | 403 |
Top tissues by expression
200 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.71 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.80 | gold quality |
| monocyte | CL:0000576 | 61.00 | gold quality |
| leukocyte | CL:0000738 | 58.76 | gold quality |
| bone marrow cell | CL:0002092 | 58.26 | silver quality |
| endometrium epithelium | UBERON:0004811 | 57.27 | gold quality |
| upper leg skin | UBERON:0004262 | 56.90 | silver quality |
| metanephric glomerulus | UBERON:0004736 | 55.97 | gold quality |
| corpus callosum | UBERON:0002336 | 54.45 | gold quality |
| frontal pole | UBERON:0002795 | 50.41 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 50.30 | gold quality |
| paraflocculus | UBERON:0005351 | 50.18 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 50.18 | gold quality |
| blood | UBERON:0000178 | 49.46 | gold quality |
| cerebellar vermis | UBERON:0004720 | 49.25 | gold quality |
| testis | UBERON:0000473 | 46.21 | gold quality |
| left testis | UBERON:0004533 | 45.65 | gold quality |
| quadriceps femoris | UBERON:0001377 | 44.95 | gold quality |
| vastus lateralis | UBERON:0001379 | 44.01 | gold quality |
| bone marrow | UBERON:0002371 | 43.95 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
| right testis | UBERON:0004534 | 43.01 | gold quality |
| granulocyte | CL:0000094 | 42.72 | silver quality |
| secondary oocyte | CL:0000655 | 42.57 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 42.57 | gold quality |
| thymus | UBERON:0002370 | 42.23 | gold quality |
| biceps brachii | UBERON:0001507 | 42.13 | gold quality |
| oviduct epithelium | UBERON:0004804 | 41.74 | gold quality |
| superficial temporal artery | UBERON:0001614 | 41.33 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 41.12 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.13 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXC1, HOXD13, OVOL2, PAX1, PAX3, RFX1, RFX2, RFX4, SP1, SP3
Literature-anchored findings (GeneRIF, showing 1)
- These results suggested that the testis-specific linker histone, H1T, possesses a specific function to produce the chromatin architecture required for proper chromosome regulation, such as homologous recombination. (PMID:26757249)
Cross-species orthologs
23 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:dkey-261m9.12 | ENSDARG00000032637 |
| danio_rerio | histh1l1 | ENSDARG00000035519 |
| danio_rerio | si:ch211-113a14.24 | ENSDARG00000051718 |
| danio_rerio | si:ch211-113a14.18 | ENSDARG00000051735 |
| danio_rerio | zgc:110425 | ENSDARG00000058479 |
| danio_rerio | si:dkey-108k21.10 | ENSDARG00000075508 |
| danio_rerio | zgc:163061 | ENSDARG00000075538 |
| danio_rerio | ENSDARG00000076766 | |
| danio_rerio | zgc:110216 | ENSDARG00000077456 |
| danio_rerio | si:ch211-103n10.5 | ENSDARG00000077504 |
| danio_rerio | si:dkey-108k21.21 | ENSDARG00000091905 |
| danio_rerio | zgc:153405 | ENSDARG00000096992 |
| danio_rerio | si:dkey-23a13.17 | ENSDARG00000105328 |
| danio_rerio | histh1l2 | ENSDARG00000105350 |
| danio_rerio | si:ch73-368j24.11 | ENSDARG00000105430 |
| danio_rerio | si:dkey-108k21.14 | ENSDARG00000110841 |
| danio_rerio | histh1l3 | ENSDARG00000115766 |
| mus_musculus | H1f6 | ENSMUSG00000036211 |
| caenorhabditis_elegans | WBGENE00001853 | |
| caenorhabditis_elegans | WBGENE00001854 | |
| caenorhabditis_elegans | WBGENE00001855 | |
| caenorhabditis_elegans | hil-5 | WBGENE00001856 |
| caenorhabditis_elegans | WBGENE00001857 |
Paralogs (9): H1-3 (ENSG00000124575), H1-1 (ENSG00000124610), H1-4 (ENSG00000168298), H1-8 (ENSG00000178804), H1-5 (ENSG00000184357), H1-10 (ENSG00000184897), H1-7 (ENSG00000187166), H1-2 (ENSG00000187837), H1-0 (ENSG00000189060)
Protein
Protein identifiers
Histone H1t — P22492 (reviewed: P22492)
Alternative names: Testicular H1 histone
All UniProt accessions (1): P22492
UniProt curated annotations — full annotation on UniProt →
Function. Testis-specific histone H1 that forms less compacted chromatin compared to other H1 histone subtypes. Formation of more relaxed chromatin may be required to promote chromatin architecture required for proper chromosome regulation during meiosis, such as homologous recombination. Histones H1 act as linkers that bind to nucleosomes and compact polynucleosomes into a higher-order chromatin configuration.
Subcellular location. Nucleus. Chromosome.
Tissue specificity. Testis-specific.
Post-translational modifications. Phosphorylated in early spermatids. Citrullination at Arg-58 (H1R54ci) by PADI4 takes place within the DNA-binding site of H1 and results in its displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance. Deamidation of Asn-80 and Asn-81 by CTPS1 in response to DNA damage promotes subsequent acetylation of histone H1 at Lys-79 (H1K75ac). Acetylated at Lys-79 (H1K75ac) by EP300 following deamidation of Asn-80 and Asn-81 by CTPS1 in response to DNA damage, thereby increasing chromatin accessibility to facilitate the recruitment of DNA repair proteins.
Similarity. Belongs to the histone H1/H5 family.
RefSeq proteins (1): NP_005314* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005818 | Histone_H1/H5_H15 | Domain |
| IPR005819 | H1/H5 | Family |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
Pfam: PF00538
UniProt features (31 total): modified residue 18, compositionally biased region 4, sequence variant 3, region of interest 2, initiator methionine 1, chain 1, domain 1, site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P22492-F1 | 63.53 | 0.30 |
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): 56 (important for nucleosome binding properties)
Post-translational modifications (18): 9, 38, 58, 67, 68, 79, 80, 81, 89, 94, 94, 110, 143, 159, 162, 166, 181, 190
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 83 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_NEGATIVE_REGULATION_OF_DNA_RECOMBINATION, GOBP_MALE_GAMETE_GENERATION, GOBP_CHROMOSOME_CONDENSATION, HOSHIDA_LIVER_CANCER_LATE_RECURRENCE_DN, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, GFI1_01, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, MODULE_203, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, LEE_AGING_CEREBELLUM_DN, GOBP_CHROMATIN_REMODELING, MEF2_Q6_01, TTTNNANAGCYR_UNKNOWN
GO Biological Process (5): nucleosome assembly (GO:0006334), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), chromosome condensation (GO:0030261), negative regulation of DNA recombination (GO:0045910)
GO Molecular Function (5): double-stranded DNA binding (GO:0003690), structural constituent of chromatin (GO:0030527), nucleosomal DNA binding (GO:0031492), DNA binding (GO:0003677), chromatin DNA binding (GO:0031490)
GO Cellular Component (4): nucleosome (GO:0000786), nucleus (GO:0005634), chromatin (GO:0000785), chromosome (GO:0005694)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA binding | 2 |
| chromatin | 2 |
| chromatin organization | 1 |
| nucleosome organization | 1 |
| protein-DNA complex assembly | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular developmental process | 1 |
| chromosome organization | 1 |
| regulation of DNA recombination | 1 |
| DNA recombination | 1 |
| negative regulation of DNA metabolic process | 1 |
| structural molecule activity | 1 |
| chromatin DNA binding | 1 |
| nucleosome binding | 1 |
| nucleic acid binding | 1 |
| chromatin binding | 1 |
| protein-DNA complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
998 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| H1-6 | H1-8 | Q8IZA3 | 976 |
| H1-6 | H1-7 | Q75WM6 | 955 |
| H1-6 | H1-10 | Q92522 | 903 |
| H1-6 | NASP | P49321 | 791 |
| H1-6 | SLBP | Q14493 | 738 |
| H1-6 | SYCP3 | Q8IZU3 | 690 |
| H1-6 | DHX29 | Q7Z478 | 653 |
| H1-6 | H3-4 | Q16695 | 626 |
| H1-6 | SYCP1 | Q15431 | 621 |
| H1-6 | RPS20 | P17075 | 593 |
| H1-6 | RPS3 | P23396 | 552 |
| H1-6 | RPS26 | P02383 | 544 |
| H1-6 | TNP2 | Q05952 | 541 |
| H1-6 | SPO11 | Q9Y5K1 | 528 |
| H1-6 | H2BC1 | Q96A08 | 527 |
| H1-6 | H1-4 | P10412 | 527 |
IntAct
89 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| UBASH3B | EGFR | psi-mi:“MI:0914”(association) | 0.690 |
| H2AC4 | PPM1G | psi-mi:“MI:0914”(association) | 0.670 |
| H2BC1 | PPM1G | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| MECP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| OPG200 | IKBKB | psi-mi:“MI:0914”(association) | 0.620 |
| YWHAZ | LMNA | psi-mi:“MI:0914”(association) | 0.560 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| NPDC1 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF71 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| BHLHA15 | RPLP0 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| THAP3 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| H2BC26 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| H2AC20 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| RPL7A | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| P/V/C | KPNA3 | psi-mi:“MI:0914”(association) | 0.530 |
| TSC22D1 | KRT1 | psi-mi:“MI:0914”(association) | 0.460 |
| H1-6 | H2BC15 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (310): HIST1H1T (Affinity Capture-MS), HIST1H1T (Affinity Capture-MS), HIST1H1T (Proximity Label-MS), HIST1H1T (Affinity Capture-MS), HIST1H1T (Affinity Capture-MS), ZC3HAV1 (Affinity Capture-MS), HIST1H1T (Affinity Capture-MS), HIST1H1E (Affinity Capture-MS), HIST1H1T (Affinity Capture-MS), YBX2 (Affinity Capture-MS), TUBA8 (Affinity Capture-MS), RPL30 (Affinity Capture-MS), ELAVL2 (Affinity Capture-MS), HIST1H1T (Affinity Capture-MS), ZNF724P (Affinity Capture-MS)
ESM2 similar proteins: A4FV97, B8QB46, D3Z8Y2, D3ZZW6, P06348, P06349, P0CB48, P22492, P23497, P38432, P40286, P48778, Q07133, Q08DU9, Q0VEE6, Q18336, Q28EG9, Q3TEA8, Q3TYG6, Q3U1C4, Q3V1H1, Q4R8T4, Q5RFC2, Q5RKG3, Q5SSJ5, Q5ZJ20, Q5ZM33, Q61464, Q62187, Q66H19, Q6K0P9, Q6P747, Q75WM6, Q7L190, Q7Z7J5, Q80VM8, Q8BVK9, Q8BVY0, Q8CJI4, Q8VIK3
Diamond homologs: A7MAZ5, D3ZBN0, D3ZZW6, D4A3K5, G3N131, O01833, O16277, P02251, P02252, P02253, P02254, P02255, P02256, P02257, P02258, P02259, P06144, P06348, P06349, P06350, P06513, P06892, P06893, P06894, P07305, P07796, P08284, P08285, P08286, P08287, P08288, P09426, P09987, P10412, P10922, P15796, P15864, P15865, P15866, P15867
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 94 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 |
|---|---|---|---|
| Replacement of protamines by nucleosomes in the male pronucleus | 10 | 43.2× | 2e-12 |
| FXIIa activates plasma kallikrein-kinin system | 13 | 35.7× | 1e-14 |
| Packaging Of Telomere Ends | 10 | 34.9× | 5e-12 |
| SIRT1 negatively regulates rRNA expression | 12 | 32.5× | 3e-13 |
| Recognition and association of DNA glycosylase with site containing an affected purine | 10 | 32.4× | 8e-12 |
| Cleavage of the damaged purine | 10 | 32.4× | 8e-12 |
| Recognition and association of DNA glycosylase with site containing an affected pyrimidine | 11 | 32.2× | 2e-12 |
| Cleavage of the damaged pyrimidine | 11 | 32.2× | 2e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| heterochromatin formation | 8 | 24.9× | 3e-07 |
| nucleosome assembly | 12 | 20.6× | 3e-10 |
| cytoplasmic translation | 6 | 13.6× | 7e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
96 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 87 |
| Likely benign | 9 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
192 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:26108012:T:TA | donor_gain | 0.7800 |
| 6:26107911:CATA:C | donor_loss | 0.7600 |
| 6:26107912:ATACC:A | donor_loss | 0.7600 |
| 6:26107913:TA:T | donor_loss | 0.7600 |
| 6:26107914:A:AG | donor_loss | 0.7600 |
| 6:26107915:C:CA | donor_loss | 0.7600 |
| 6:26107981:TTGCG:T | donor_gain | 0.7500 |
| 6:26107997:T:C | donor_gain | 0.7500 |
| 6:26107909:GACAT:G | donor_loss | 0.7400 |
| 6:26107910:ACATA:A | donor_loss | 0.7400 |
| 6:26107916:C:T | donor_loss | 0.7400 |
| 6:26107915:CCTA:C | donor_gain | 0.7100 |
| 6:26107919:CT:C | donor_gain | 0.6900 |
| 6:26107569:AC:A | donor_gain | 0.6700 |
| 6:26107570:CC:C | donor_gain | 0.6700 |
| 6:26107996:A:AC | donor_gain | 0.6600 |
| 6:26107715:A:AC | donor_gain | 0.6500 |
| 6:26107716:C:CC | donor_gain | 0.6500 |
| 6:26107759:CTAAG:C | donor_gain | 0.6400 |
| 6:26107763:G:C | donor_gain | 0.6300 |
| 6:26107924:T:A | donor_gain | 0.6300 |
| 6:26107918:A:AC | donor_gain | 0.6200 |
| 6:26107919:C:CC | donor_gain | 0.6200 |
| 6:26107565:GCTTA:G | donor_loss | 0.6000 |
| 6:26107567:TTACC:T | donor_loss | 0.6000 |
| 6:26107568:TACCC:T | donor_loss | 0.6000 |
| 6:26107569:ACCCT:A | donor_loss | 0.6000 |
| 6:26107570:C:CG | donor_loss | 0.6000 |
| 6:26107501:A:C | donor_gain | 0.5900 |
| 6:26107569:A:AC | donor_gain | 0.5900 |
AlphaMissense
1322 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:26107767:A:C | F109L | 0.994 |
| 6:26107767:A:T | F109L | 0.994 |
| 6:26107769:A:G | F109L | 0.994 |
| 6:26107768:A:G | F109S | 0.988 |
| 6:26107893:C:A | K67N | 0.985 |
| 6:26107893:C:G | K67N | 0.985 |
| 6:26107843:A:C | I84S | 0.984 |
| 6:26107843:A:G | I84T | 0.983 |
| 6:26107831:A:T | L88H | 0.979 |
| 6:26107885:A:G | L70S | 0.978 |
| 6:26107768:A:C | F109C | 0.976 |
| 6:26107846:C:G | R83P | 0.975 |
| 6:26107897:A:T | L66H | 0.974 |
| 6:26107951:A:C | I48S | 0.974 |
| 6:26107804:A:T | L97Q | 0.973 |
| 6:26107772:A:G | S108P | 0.969 |
| 6:26107897:A:G | L66P | 0.969 |
| 6:26107951:A:G | I48T | 0.966 |
| 6:26107951:A:T | I48N | 0.965 |
| 6:26107831:A:G | L88P | 0.960 |
| 6:26107843:A:T | I84N | 0.960 |
| 6:26107774:C:T | G107D | 0.958 |
| 6:26107789:C:T | G102D | 0.956 |
| 6:26107847:G:T | R83S | 0.956 |
| 6:26107871:A:C | Y75D | 0.952 |
| 6:26107783:C:T | G104D | 0.950 |
| 6:26107889:C:G | A69P | 0.950 |
| 6:26107790:C:G | G102R | 0.949 |
| 6:26107894:T:G | K67T | 0.948 |
| 6:26107804:A:G | L97P | 0.946 |
dbSNP variants (sampled 300 via entrez): RS1000644003 (6:26110004 T>G), RS1002618064 (6:26107122 C>CT), RS1004489154 (6:26107997 T>A,C,G), RS1004518794 (6:26108094 A>G), RS1004547727 (6:26107545 C>A,T), RS1005523727 (6:26109466 G>C), RS1007382201 (6:26107314 C>T), RS1008621441 (6:26107186 A>G), RS1009388328 (6:26107071 G>A), RS1009420846 (6:26107208 G>A), RS1009484180 (6:26107280 G>A,T), RS1009803759 (6:26107176 G>A,C), RS1010393876 (6:26107641 C>G,T), RS1011426698 (6:26108246 A>T), RS1012028253 (6:26109425 G>A)
Disease associations
OMIM: gene MIM:142712 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
38 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004003_10 | Hematocrit | 1.000000e-08 |
| GCST004004_34 | Mean corpuscular volume | 3.000000e-37 |
| GCST004005_11 | Hemoglobin levels | 1.000000e-08 |
| GCST004006_19 | Mean corpuscular hemoglobin | 3.000000e-31 |
| GCST004007_10 | Mean corpuscular hemoglobin concentration | 1.000000e-08 |
| GCST004521_113 | Autism spectrum disorder or schizophrenia | 3.000000e-19 |
| GCST004521_169 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_69 | Autism spectrum disorder or schizophrenia | 8.000000e-24 |
| GCST004521_83 | Autism spectrum disorder or schizophrenia | 1.000000e-13 |
| GCST004602_48 | Mean corpuscular volume | 2.000000e-229 |
| GCST004612_9 | High light scatter reticulocyte percentage of red cells | 1.000000e-09 |
| GCST004621_95 | Red cell distribution width | 3.000000e-161 |
| GCST004630_84 | Mean corpuscular hemoglobin | 0.000000e+00 |
| GCST006011_62 | Mean corpuscular volume | 3.000000e-12 |
| GCST006231_29 | Mean arterial pressure | 1.000000e-17 |
| GCST007483_46 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 4.000000e-08 |
| GCST007487_27 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 8.000000e-08 |
| GCST007494_7 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 8.000000e-06 |
| GCST010002_50 | Refractive error | 4.000000e-34 |
| GCST010142_16 | Fish- and plant-related diet | 2.000000e-10 |
| GCST010142_19 | Fish- and plant-related diet | 4.000000e-10 |
| GCST010142_34 | Fish- and plant-related diet | 7.000000e-09 |
| GCST010142_35 | Fish- and plant-related diet | 8.000000e-09 |
| GCST010142_42 | Fish- and plant-related diet | 1.000000e-08 |
| GCST010142_7 | Fish- and plant-related diet | 3.000000e-12 |
| GCST012226_37 | Waist circumference adjusted for body mass index | 3.000000e-09 |
| GCST012227_884 | Hip circumference adjusted for BMI | 5.000000e-19 |
| GCST90002383_405 | Hematocrit | 3.000000e-178 |
| GCST90002384_81 | Hemoglobin | 0.000000e+00 |
| GCST90002385_363 | High light scatter reticulocyte count | 3.000000e-69 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0007986 | reticulocyte count |
| EFO:0009188 | Red cell distribution width |
| EFO:0006340 | mean arterial pressure |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008111 | diet measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007984 | platelet component distribution width |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | increases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| sodium arsenite | decreases expression, increases abundance, affects cotreatment | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| ochratoxin A | increases expression | 1 |
| versicolorin A | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Caffeine | increases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Hydrogen Peroxide | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Rotenone | decreases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Cyclosporine | increases methylation | 1 |
| Aflatoxin B1 | affects expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Copper Sulfate | 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.