TISSUE BIOLOGY · EXPRESSION
ASH1L is broadly expressed—including brain, but not brain-only.
Normal reference atlases identify candidate tissues and cell classes. They do not measure altered dosage, protein function, a patient allele, tissue vulnerability, or clinical effect.
HUMAN TISSUE RNA
All 51 displayed HPA/GTEx consensus values.
Different tissues contain different mixtures of cells, so RNA levels do not rank clinical vulnerability. These values compare transcript abundance—not protein activity, variant dosage, cell vulnerability, or clinical effect. Other HPA tissue, cell, and protein modalities are separate datasets.
REFERENCE METHODSOpen classification, protein, and source context
CLASSIFICATION
Low tissue specificityBroad distribution rather than one organ-enriched RNA patternPROTEIN
General nuclear expressionProtein estimates vary by assay; RNA and protein are not interchangeableSOURCE
HPA/GTEx consensus tissue display (51 values shown)Normal-tissue reference data; not patient-specific and not a measure of tissue vulnerabilitySource: Human Protein Atlas / GTEx consensus tissue data. These are normal-tissue reference measurements, and the source may change over time. Detectable RNA does not show that a person's ASH1L variant has altered that tissue. Field definitions and source notes are included in the downloads below.
Browse all 51 displayed tissue values
Values are source-reported consensus RNA abundance in normal reference tissue. They do not measure protein activity or an ASH1L-related phenotype.
Scroll horizontally to review every column.
| Organ system | Tissue | Consensus RNA (nTPM) |
|---|---|---|
| Brain & eyeCentral nervous system, choroid plexus, and retina | Cerebral cortex | 26.4 |
| Cerebellum | 34.5 | |
| Basal ganglia | 23.9 | |
| Hypothalamus | 19.0 | |
| Midbrain | 18.6 | |
| Amygdala | 21.0 | |
| Choroid plexus | 7.5 | |
| Hippocampal formation | 21.0 | |
| Spinal cord | 17.5 | |
| Retina | 24.2 | |
| EndocrineHormone-producing organs | Thyroid gland | 17.4 |
| Parathyroid gland | 17.1 | |
| Adrenal gland | 16.2 | |
| Pituitary gland | 17.6 | |
| Respiratory & upper digestiveAirway and proximal oral–digestive tissues | Lung | 15.4 |
| Salivary gland | 17.7 | |
| Esophagus | 16.5 | |
| Tongue | 22.7 | |
| Gastrointestinal tractLuminal digestive organs | Stomach | 17.1 |
| Duodenum | 9.2 | |
| Small intestine | 17.1 | |
| Colon | 23.9 | |
| Rectum | 10.8 | |
| Liver, gallbladder & pancreasMetabolic, biliary, exocrine, and endocrine compartments | Liver | 12.8 |
| Gallbladder | 8.5 | |
| Pancreas | 16.5 | |
| Kidney & urinary tractRenal and bladder tissue | Kidney | 13.2 |
| Urinary bladder | 21.3 | |
| Male reproductiveGonadal and reproductive tract tissues | Testis | 11.0 |
| Epididymis | 19.6 | |
| Seminal vesicle | 14.5 | |
| Prostate | 17.4 | |
| Female reproductive & breastGonadal, reproductive, placental, and breast tissues | Vagina | 18.0 |
| Ovary | 24.5 | |
| Fallopian tube | 17.7 | |
| Endometrium | 20.7 | |
| Cervix | 19.2 | |
| Placenta | 9.7 | |
| Breast | 18.5 | |
| Muscle & vascularCardiac, skeletal, smooth-muscle, and vessel tissue | Blood vessel | 27.4 |
| Heart muscle | 18.5 | |
| Smooth muscle | 11.9 | |
| Skeletal muscle | 33.7 | |
| Connective, adipose & skinBarrier and soft-tissue compartments | Adipose tissue | 19.3 |
| Skin | 20.9 | |
| Bone marrow & lymphoidHematopoietic and immune-organ tissues | Appendix | 8.0 |
| Spleen | 13.9 | |
| Lymph node | 10.2 | |
| Tonsil | 9.1 | |
| Bone marrow | 11.2 | |
| Thymus | 11.3 |
CELL-TYPE RESOLUTION
The signal spans neural, epithelial, metabolic, muscle, reproductive, vascular, and immune cells.
Human single-cell and single-nucleus atlases refine the bulk-tissue map. HPA classifies ASH1L as low-specificity across single cells and immune cells, while highlighting adrenal-cortex cells and spermatocytes in its tissue-cell analysis and a neuron-enriched signal in deep visual proteomics.
6 HUMAN CELL-CLASS CONTEXTSOpen the cell-class table and source links
Scroll horizontally to review every column.
| Cell class | Examples detected | What the atlas can support |
|---|---|---|
| Neural & glial | Brain-region single-cell types and separate deep-visual-proteomics categories | The brain-region atlas includes neurons, astrocytes, Bergmann glia, oligodendroglial lineages, microglia, and vascular cells. Separate DVP categories include neurons, astrocytes/neuropil, and microglia/neuropil; those modalities are not one cell-level measurement. |
| Airway & epithelial | Ciliated cells, alveolar type 1 and type 2 cells, keratinocytes, secretory cells, and pancreatic epithelial cells | Detection identifies cell contexts for experiments; it does not establish epithelial disease in ASH1L haploinsufficiency. |
| Metabolic & renal | Hepatocytes, pancreatic islets, glomerular cells, proximal and distal tubules, and collecting ducts | Human atlas detection is broad. Direct germline loss-of-function mechanisms in these lineages remain largely untested. |
| Muscle & vascular | Cardiomyocytes, skeletal myofibers, capillaries, smooth-muscle cells, and vascular support cells | Human expression is supported; direct functional evidence is strongest for myoblast fusion in a mouse/cell model. |
| Reproductive | Granulosa cells, oocytes, spermatocytes, and reproductive-tract cell populations | HPA predicts enrichment in spermatocytes and adrenal-cortex cells. A mouse fetal-ovary overexpression study is a dosage-perturbation model, not a germline loss-of-function result. |
| Immune | Neutrophils, macrophages, CD4 and CD8 T cells, B cells, dendritic cells, and other blood lineages | Human immune-cell RNA has low specificity. Mouse macrophage and T-cell studies supply direct lineage mechanisms, but not a human ASH1L immune phenotype. |