Panel: DD Gene: PURA Disease: INTELLECTUAL DISABILITY

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PURA

Gene symbol
PURA
OMIM MIM
Ensembl stable ID
ENSG00000185129
Synonyms
Location

INTELLECTUAL DISABILITY

Disease ontology accessions

  • Intellectual disability HP:0001249
  • mental retardation EFO:0003847

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Gene-Disease Attributes

Disease confidence
confirmed

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Allelic requirement
monoallelic
Mutation consequence summary
loss of function

Edit allelic requirements and mutation consequence:


biallelic
digenic
hemizygous
imprinted
mitochondrial
monoallelic
monoallelic (Y)
mosaic
uncertain
x-linked dominant
x-linked over-dominance

Phenotypes

Organ specificity

  • Brain/Cognition

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Bone Marrow/Immune
Brain/Cognition
Cancer predisposition
Ear
Endocrine
Endocrine/Metabolic
Eye
Face
GI tract
Genitalia
Hair/Nails
Heart/Cardiovasculature/Lymphatic
Kidney Renal Tract
Liver
Lungs
Multisystem
Musculature
Peripheral nerves
Respiratory tract
Skeleton
Skin
Spinal cord/Peripheral nerves
Teeth & Dentitian

Variants

The following variants are retrieved from Ensembl. We only select variants that have been annotated as pathogenic by ClinVar. For each of the variants we display the most severe consequence. If there are multiple transcripts producing the consequence, we choose the canonical transcript, otherwise we select the transcript randomly.

Location Variant name Variant source Alleles REF/ALT Most severe consequence Transcript ID Amino acid change PolyPhen prediction SIFT prediction
5:139493767 rs793888530 ClinVar A/T start_lost ENST00000331327 M/L unknown deleterious - low confidence
5:139493770-139493774 rs793888537 ClinVar GCGGA/- frameshift_variant ENST00000331327 AD/X - -
5:139493984 rs793888535 ClinVar T/C missense_variant ENST00000331327 F/S probably damaging deleterious
5:139494029-139494031 rs587783000 dbSNP TCG/- inframe_deletion ENST00000331327 IA/T - -
5:139494031 rs587782999 dbSNP G/C missense_variant ENST00000331327 A/P probably damaging deleterious
5:139494055 rs587782994 dbSNP A/G missense_variant ENST00000331327 K/E possibly damaging deleterious
5:139494065 rs587782995 dbSNP T/C missense_variant ENST00000331327 L/P probably damaging deleterious
5:139494068-139494076 rs793888533 ClinVar CTCTCTCCA/- inframe_deletion ENST00000331327 TLSM/M - -
5:139494071 rs793888531 ClinVar T/G missense_variant ENST00000331327 L/R probably damaging deleterious
5:139494073-139494074 rs587782992 dbSNP TC/- frameshift_variant ENST00000331327 S/X - -
5:139494129 rs587782996 dbSNP C/G/T stop_gained ENST00000331327 Y - -
5:139494129 rs587782996 dbSNP C/G/T stop_gained ENST00000331327 Y/* - -
5:139494145 rs793888538 ClinVar -/A frameshift_variant ENST00000331327 S/X - -
5:139494236 rs587782998 dbSNP T/A missense_variant ENST00000331327 M/K possibly damaging deleterious
5:139494322 rs587782993 dbSNP C/T stop_gained ENST00000331327 Q/* - -
5:139494329 rs793888527 ClinVar T/C missense_variant ENST00000331327 I/T probably damaging deleterious
5:139494362 rs587783001 dbSNP G/C missense_variant ENST00000331327 R/P probably damaging deleterious
5:139494511 rs793888539 ClinVar G/- frameshift_variant ENST00000331327 V/X - -
5:139494534 rs793888532 ClinVar -/C frameshift_variant ENST00000331327 S/X - -
5:139494549 rs587782997 dbSNP C/G stop_gained ENST00000331327 Y/* - -
5:139494558 rs793888534 ClinVar G/A stop_gained ENST00000331327 W/* - -
5:139494562 rs793888529 ClinVar A/T stop_gained ENST00000331327 K/* - -
5:139494578-139494580 rs587782991 dbSNP TCT/- inframe_deletion ENST00000331327 FC/C - -