5q35.2-q35.3 Copy Number Variation - CNVPathwayAtlas

5q35.2-q35.3 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr5:175720924-177052594

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Disorder Information from Orphanet

  1. ORPHA: 1627 Deletion syndrome

    Disease definition: Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.
    World-wide prevalence: <1 / 1 000 000
    Very frequent (99–80%) phenotypic features: No phenotypic features available.
  2. ORPHA: 228415 Microduplication syndrome

    Disease definition: The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.
    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
SIMC1 SUMO interacting motifs containing 1 375484 ENSG00000170085 Q8NDZ2
KIAA1191 KIAA1191 57179 ENSG00000122203 Q96A73
ARL10 ARF like GTPase 10 285598 ENSG00000175414 Q8N8L6
NOP16 NOP16 nucleolar protein 51491 ENSG00000048162 Q9Y3C1
HIGD2A HIG1 hypoxia inducible domain family member 2A 192286 ENSG00000146066 Q9BW72
CLTB clathrin light chain B 1212 ENSG00000175416 P09497
FAF2 Fas associated factor family member 2 23197 ENSG00000113194 Q96CS3
RNF44 ring finger protein 44 22838 ENSG00000146083 Q7L0R7
CDHR2 cadherin related family member 2 54825 ENSG00000074276 Q9BYE9
GPRIN1 G protein regulated inducer of neurite outgrowth 1 114787 ENSG00000169258 Q7Z2K8
SNCB synuclein beta 6620 ENSG00000074317 Q16143
EIF4E1B eukaryotic translation initiation factor 4E family member 1B 253314 ENSG00000175766 A6NMX2
TSPAN17 tetraspanin 17 26262 ENSG00000048140 Q96FV3
UNC5A unc-5 netrin receptor A 90249 ENSG00000113763 Q6ZN44
HK3 hexokinase 3 3101 ENSG00000160883 P52790
UIMC1 ubiquitin interaction motif containing 1 51720 ENSG00000087206 Q96RL1
ZNF346 zinc finger protein 346 23567 ENSG00000113761 Q9UL40
FGFR4 fibroblast growth factor receptor 4 2264 ENSG00000160867 P22455
NSD1 nuclear receptor binding SET domain protein 1 64324 ENSG00000165671 Q96L73
RAB24 RAB24, member RAS oncogene family 53917 ENSG00000169228 Q969Q5
MXD3 MAX dimerization protein 3 83463 ENSG00000213347 Q9BW11
PRELID1 PRELI domain containing 1 27166 ENSG00000169230 Q9Y255
LMAN2 lectin, mannose binding 2 10960 ENSG00000169223 Q12907
RGS14 regulator of G protein signaling 14 10636 ENSG00000169220 O43566
SLC34A1 solute carrier family 34 member 1 6569 ENSG00000131183 Q06495
PFN3 profilin 3 345456 ENSG00000196570 P60673
F12 coagulation factor XII 2161 ENSG00000131187 P00748
GRK6 G protein-coupled receptor kinase 6 2870 ENSG00000198055 P43250
PRR7 proline rich 7, synaptic 80758 ENSG00000131188 Q8TB68
DBN1 drebrin 1 1627 ENSG00000113758 Q16643
PDLIM7 PDZ and LIM domain 7 9260 ENSG00000196923 Q9NR12
DOK3 docking protein 3 79930 ENSG00000146094 Q7L591
DDX41 DEAD-box helicase 41 51428 ENSG00000183258 Q9UJV9
FAM193B family with sequence similarity 193 member B 54540 ENSG00000146067 Q96PV7
TMED9 transmembrane p24 trafficking protein 9 54732 ENSG00000184840 Q9BVK6
B4GALT7 beta-1,4-galactosyltransferase 7 11285 ENSG00000027847 Q9UBV7