RegionAllelesStatement

A statement about the positional relationship between a region of genomic sequence and one or more alleles. (i.e. whether the region overlaps or is adjacent to the allele).

SEPIO:0000244
Descended from Statement

Scope and Usage

Attributes

Name Type Cardinality Description IRI Defined in
allele ContextualAllele 0..* Alleles that are being explicited assessed as either included or excluded from the region. SEPIO:0000275 RegionAllelesStatement
region SequenceLocation 1..1 Region within which alleles are being measured SEPIO:0000279 RegionAllelesStatement
statementOutcome @id 1..1 Assessed outcome of specified alleles as either included or excluded. SEPIO:0000197 RegionAllelesStatement
label string 0..1 A name given to the resource. RDFS:label Entity
description string 0..1 Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. DC:description Entity
userLabelDictionary UserLabel 0..* An optional label defined by the user. Used for custom entities or to clarify the preferred user label on existing entities with non-preferred labels. SEPIO:0000422 Statement
outcomeQualifier string 0..1 Use “NOT” as the value of this property to assert that the statement is negated. SEPIO:0000346 Statement
evidenceLine EvidenceLine 0..* supporting evidence SEPIO:0000006 Statement
contribution Contribution 0..* The contributions (agent, time and role) made to this entity SEPIO:0000159 Statement
source string 0..* A string indicating the source of a Statement DC:source Statement

Instances

ID label description userLabelDictionary outcomeQualifier evidenceLine allele region statementOutcome

CGEX:RegAll380

This region is the catalytic (kinase) domain.

CGEX:CtxAll126

CGEX:Loc432

RO:0002656

(overlaps region)

CGEX:RegAll382

This region is exon 15 in the transcript, and codes the serine-threonine-protein kinase catalytic domain.

CGEX:CtxAll029

CGEX:Loc433

RO:0002656

(overlaps region)

CGEX:RegAll384

The region contains the following pathogenic variants: c.886A>G, c.890C>T, c.899T>C, & c.902G>A.

CGEX:CtxAll031

CGEX:CtxAll032

CGEX:CtxAll033

CGEX:CtxAll034

CGEX:Loc434

RO:0002656

(overlaps region)

CGEX:RegAll391

region is repeating but does not have a known function.

CGEX:CtxAll106

CGEX:Loc438

RO:0002656

(overlaps region)

CGEX:RegAll393

Allele NM_133378.4 (TTN): c.26752_26761delACGGCAGAGC is contained by this region.

CGEX:CtxAll107

CGEX:Loc439

RO:0002656

(overlaps region)

CGEX:RegAll395

CGEX:CtxAll108

CGEX:Loc440

RO:0002656

(overlaps region)