1q21.1 Copy Number Variation - CNVPathwayAtlas

1q21.1 Copy Number Variation

Description

The distal 1q21.1 copy number variation syndrome can result in the loss or duplication of up to 20 protein-coding genes.

Genomic location GRCh37/hg19

Chr1:145394955-145807817

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Disorder Information from Orphanet

  1. ORPHA: 250989 Microdeletion syndrome
    612474
    Disease definition: 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.
  2. ORPHA: 250994 Microduplication syndrome
    612475
    Disease definition: 1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.
    World-wide prevalence: <1 / 1 000 000
    Very frequent (99–80%) phenotypic features: No phenotypic features available.

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Gene Information

HGNC Gene Name NCBI Ensembl UniProt
HJV hemojuvelin BMP co-receptor 148738 ENSG00000168509 Q6ZVN8
TXNIP thioredoxin interacting protein 10628 ENSG00000265972 Q9H3M7
POLR3GL RNA polymerase III subunit GL 84265 ENSG00000121851 Q9BT43
ANKRD34A ankyrin repeat domain 34A 284615 ENSG00000272031 Q69YU3
LIX1L limb and CNS expressed 1 like 128077 ENSG00000271601 Q8IVB5
RBM8A RNA binding motif protein 8A 9939 ENSG00000265241 Q9Y5S9
PEX11B peroxisomal biogenesis factor 11 beta 8799 ENSG00000131779 O96011
ITGA10 integrin subunit alpha 10 8515 ENSG00000143127 O75578
ANKRD35 ankyrin repeat domain 35 148741 ENSG00000198483 Q8N283
PIAS3 protein inhibitor of activated STAT 3 10401 ENSG00000131788 Q9Y6X2
NUDT17 nudix hydrolase 17 200035 ENSG00000186364 P0C025
POLR3C RNA polymerase III subunit C 10623 ENSG00000186141 Q9BUI4
RNF115 ring finger protein 115 27246 ENSG00000265491 Q9Y4L5
CD160 CD160 molecule 11126 ENSG00000117281 O95971
PDZK1 PDZ domain containing 1 5174 ENSG00000174827 Q5T2W1
GPR89A G protein-coupled receptor 89A 653519 ENSG00000117262 B7ZAQ6