Human proteome
Is disorder where the variation is? The chain's own composition, then how far each source departs from it.
Where the mutations fall
Missense variants per source, split by structural context. The dotted spine is the chain's own disordered share — a source reaching past it puts more of its variants in disorder than there is disorder to put them in.
| Source | Mutations with a call | Disordered | Ordered |
|---|
Disorder across the set
Share of proteins by how much of the chain is disordered, against the whole proteome on the same axis.
Missense burden
Share of proteins by missense mutations per residue.
Which conditions this set is implicated in, and what kinds of variant carry them.
Where in the body
Tumour types by the organ they were sampled from; diseases by the system their ontology path runs through.
Body diagram from EBI Expression Atlas, Apache-2.0 / CC BY 4.0. Organ ids from Uberon.
Tumour types
Somatic mutations in this set, by the cancer cohort they were sequenced in (TCGA, cBioPortal).
Diseases
Germline variants in this set, by the condition they were submitted under (ClinVar, OMIM).
ClinVar disease groups
Organ-system categories, as this set's share of a group divided by the whole proteome's. Right of the 1× spine means enriched for that kind of disease.
Variant classes
What each source's count is made of. A blank cell in the numbers means the source has no table for that class here — not that the count is zero.
| Source | Missense | Frameshift | Indel | Mix |
|---|
What is annotated here, and how this set's scores compare with the proteome.
What this set is made of
click a bar to open its rowsAnnotated regions carried by the selected proteins, by kind — whether a question is answerable on this set before you go looking for its rows.
Mutations by annotation
Which kind of span the mutations land on. A kind can be numerous without carrying much, and the pair is the finding.
…in cancer drivers
Census genes inside this set.
Pathogenicity predictors vs the proteome
Mean dbNSFP rankscore over this set's annotated regions, as a ratio to the whole proteome on a log axis. The same predictors the rest of the page offers, under the same licence gate.
| Score | This set | Disordered | Ordered | Proteome | Ratio |
|---|
Conservation vs the proteome
Mean conservation per clade, read the same way. A level above the spine is more conserved here than across the proteome.
| Level | This set | Disordered | Ordered | Proteome | Ratio |
|---|
Disorder & binding vs the proteome
Read over this set's disordered regions only — the two go together, and a binding propensity means nothing outside the disorder it is measured in.
| Score | This set | Disordered | Ordered | Proteome | Ratio |
|---|
The individual genes and spans the set is carried by.
Most mutated regions
Significantly mutated spans, ranked and drawn by p-value. Hover for the mutated share and which density run found it.
Most damaging
The scores strip says whether this set is called more damaging than the proteome; it cannot say which gene in it is. Mean rankscore over the set's regions, highest first.