16p11.2-proximal Copy Number Variation - CNVPathwayAtlas

16p11.2-proximal Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr16:29592751-30190593

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Disorder Information from Orphanet

  1. ORPHA: 370079 Microduplication syndrome
    614671
    Disease definition: Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.
  2. ORPHA: 261197 Microdeletion syndrome
    611913
    Disease definition: The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.

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Gene Information

HGNC Gene Name NCBI Ensembl UniProt
SPN sialophorin 6693 ENSG00000197471 P16150
QPRT quinolinate phosphoribosyltransferase 23475 ENSG00000103485 Q15274
C16orf54 chromosome 16 open reading frame 54 283897 ENSG00000185905 Q6UWD8
ZG16 zymogen granule protein 16 653808 ENSG00000174992 O60844
KIF22 kinesin family member 22 3835 ENSG00000079616 Q14807
MAZ MYC associated zinc finger protein 4150 ENSG00000103495 P56270
PRRT2 proline rich transmembrane protein 2 112476 ENSG00000167371 Q7Z6L0
PAGR1 PAXIP1 associated glutamate rich protein 1 79447 ENSG00000280789 Q9BTK6
MVP major vault protein 9961 ENSG00000013364 Q14764
CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase 10423 ENSG00000103502 O14735
SEZ6L2 seizure related 6 homolog like 2 26470 ENSG00000174938 Q6UXD5
ASPHD1 aspartate beta-hydroxylase domain containing 1 253982 ENSG00000174939 Q5U4P2
KCTD13 potassium channel tetramerization domain containing 13 253980 ENSG00000174943 Q8WZ19
TMEM219 transmembrane protein 219 124446 ENSG00000149932 Q86XT9
TAOK2 TAO kinase 2 9344 ENSG00000149930 Q9UL54
HIRIP3 HIRA interacting protein 3 8479 ENSG00000149929 Q9BW71
INO80E INO80 complex subunit E 283899 ENSG00000169592 Q8NBZ0
DOC2A double C2 domain alpha 8448 ENSG00000149927 Q14183
C16orf92 chromosome 16 open reading frame 92 146378 ENSG00000167194 Q96LL3
TLCD3B TLC domain containing 3B 83723 ENSG00000149926 Q71RH2
ALDOA aldolase, fructose-bisphosphate A 226 ENSG00000149925 P04075
PPP4C protein phosphatase 4 catalytic subunit 5531 ENSG00000149923 P60510
TBX6 T-box transcription factor 6 6911 ENSG00000149922 O95947
YPEL3 yippee like 3 83719 ENSG00000090238 P61236
GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 79153 ENSG00000102886 Q7L5L3
MAPK3 mitogen-activated protein kinase 3 5595 ENSG00000102882 P27361