5q35 copy number variation (WP5380)
Homo sapiens
A deletion in the chromosomal region 5q35 can cause the rare genetic disorder Sotos syndrome. Sotos syndrome is characterised by psychiatric disorders (autism, intellectual disability, developmental delay) and excessive growth. Also, duplication of 5q35 have been recorded.
Authors
Ewoud , Egon Willighagen , Friederike Ehrhart , Alex Pico , Kristina Hanspers , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Annotations
Disease Ontology
disease of mental health Sotos syndromePathway Ontology
disease pathwayLabel | Type | Compact URI | Comment |
---|---|---|---|
Phosphatidylinositol 4,5-bisphosphate | Metabolite | chebi:18348 | |
dsDNA | Metabolite | chebi:4705 | |
Phosphatidylinositol 3-phosphate | Metabolite | chebi:26034 | |
D-fructose-6-phosphate | Metabolite | wikidata:Q32039197 | |
D-glucose 6-phosphate | Metabolite | chebi:4170 | |
6-Hydroxydopamine | Metabolite | chebi:78741 | |
Polyproline | Metabolite | chebi:8321 | |
cardiolipins | Metabolite | chebi:28494 | |
RNA | Metabolite | chebi:33697 | |
D-glucose | Metabolite | chebi:17634 | |
O3-(β-D-xylosyl)-L-serine residue | Metabolite | chebi:132085 | |
Phosphate | Metabolite | chebi:43474 | |
D-fructose | Metabolite | chebi:15824 | |
UDP-α-D-galactose | Metabolite | chebi:66914 | |
Phosphatidylinositol 4-phosphate | Metabolite | chebi:17526 | |
UDP | Metabolite | chebi:58223 | |
O3-(4-β-D-galactosyl-β-D-xylosyl)-L-serine residue | Metabolite | chebi:132088 | |
High-mannose N-glycan group | Metabolite | chebi:156208 | |
phosphatidic acids | Metabolite | chebi:16337 | |
N-acetyl-D-galactosamine | Metabolite | chebi:28037 | |
O-glycans | Metabolite | chebi:59521 | |
Inositol 1,4,5-trisphosphate | Metabolite | chebi:16595 | |
Diacylglycerol | Metabolite | hmdb:HMDB0242173 | |
Ca2+ | Metabolite | chebi:29108 | |
Staurosporine | Metabolite | chebi:57491 | |
Na+ | Metabolite | chebi:29101 | |
MIR1271 | GeneProduct | ensembl:ENSG00000221464 | |
PDLIM7 | GeneProduct | ensembl:ENSG00000196923 | |
PTPRN2 | GeneProduct | ensembl:ENSG00000155093 | |
DOK3 | GeneProduct | ensembl:ENSG00000146094 | |
TMED9 | GeneProduct | ensembl:ENSG00000184840 | |
COX5B | GeneProduct | ensembl:ENSG00000135940 | |
PRELID1 | GeneProduct | ensembl:ENSG00000169230 | |
MT-CO1 | GeneProduct | ensembl:ENSG00000198804 | |
HIGD2A | GeneProduct | ensembl:ENSG00000146066 | |
NSD1 | GeneProduct | ensembl:ENSG00000165671 | |
F12 | GeneProduct | ensembl:ENSG00000131187 | |
PRR7 | GeneProduct | ensembl:ENSG00000131188 | |
MAGED1 | GeneProduct | ensembl:ENSG00000179222 | |
SRC | GeneProduct | ensembl:ENSG00000197122 | |
BABAM2 | GeneProduct | ensembl:ENSG00000158019 | |
HIC2 | GeneProduct | ensembl:ENSG00000169635 | |
UNC5A | GeneProduct | ensembl:ENSG00000113763 | |
FAF2 | GeneProduct | ensembl:ENSG00000113194 | |
MAX | GeneProduct | ensembl:ENSG00000125952 | |
LMAN2 | GeneProduct | ensembl:ENSG00000169223 | |
MIR4281 | GeneProduct | ensembl:ENSG00000266329 | |
SNCA | GeneProduct | ensembl:ENSG00000145335 | |
FRS2 | GeneProduct | ensembl:ENSG00000166225 | |
COX5A | GeneProduct | ensembl:ENSG00000178741 | |
ANKS4B | GeneProduct | ensembl:ENSG00000175311 | |
GRIN1 | GeneProduct | ensembl:ENSG00000176884 | |
HIP1 | GeneProduct | ensembl:ENSG00000127946 | |
SLC34A1 | GeneProduct | ensembl:ENSG00000131183 | |
ZNF346 | GeneProduct | ensembl:ENSG00000113761 | |
MYC | GeneProduct | ensembl:ENSG00000136997 | |
SNCB | GeneProduct | ensembl:ENSG00000074317 | |
TPM2 | GeneProduct | ensembl:ENSG00000198467 | |
RAB24 | GeneProduct | ensembl:ENSG00000169228 | |
PTH | GeneProduct | ensembl:ENSG00000152266 | |
COX6A1 | GeneProduct | ensembl:ENSG00000111775 | |
TSPAN17 | GeneProduct | ensembl:ENSG00000048140 | |
KIAA1191 | GeneProduct | ensembl:ENSG00000122203 | |
FGF1 | GeneProduct | ensembl:ENSG00000113578 | |
BRCA1 | GeneProduct | ensembl:ENSG00000012048 | |
COX7A1 | GeneProduct | ensembl:ENSG00000161281 | |
JUN | GeneProduct | ensembl:ENSG00000177606 | |
PLCG1 | GeneProduct | ensembl:ENSG00000124181 | |
B4GALT7 | GeneProduct | ensembl:ENSG00000027847 | |
PTPN2 | GeneProduct | ensembl:ENSG00000175354 | |
GNAI3 | GeneProduct | ensembl:ENSG00000065135 | |
TMED10 | GeneProduct | ensembl:ENSG00000170348 | |
NELFB | GeneProduct | ensembl:ENSG00000188986 | |
ABHD5 | GeneProduct | ensembl:ENSG00000011198 | |
COX8A | GeneProduct | ensembl:ENSG00000176340 | |
FGFR4 | GeneProduct | ensembl:ENSG00000160867 | |
DRD2 | GeneProduct | ensembl:ENSG00000149295 | |
GNAI2 | GeneProduct | ensembl:ENSG00000114353 | |
COX4I1 | GeneProduct | ensembl:ENSG00000131143 | |
Histone 3 | GeneProduct | ensembl:ENSG00000163041 | |
ABRAXAS1 | GeneProduct | ensembl:ENSG00000163322 | |
MAPK9 | GeneProduct | ensembl:ENSG00000050748 | |
DBN1 | GeneProduct | ensembl:ENSG00000113758 | |
KDM6B | GeneProduct | ensembl:ENSG00000132510 | JMJD3 |
FAM193B | GeneProduct | ensembl:ENSG00000146067 | |
GPRIN1 | GeneProduct | ensembl:ENSG00000169258 | |
IGF1R | GeneProduct | ensembl:ENSG00000140443 | |
MAPK10 | GeneProduct | ensembl:ENSG00000109339 | |
BRCC3 | GeneProduct | ensembl:ENSG00000185515 | |
DDX41 | GeneProduct | ensembl:ENSG00000183258 | |
GRB2 | GeneProduct | ensembl:ENSG00000177885 | |
USH1C | GeneProduct | ensembl:ENSG00000006611 | |
CDHR5 | GeneProduct | ensembl:ENSG00000099834 | |
TMED2 | GeneProduct | ensembl:ENSG00000086598 | |
GRIN2B | GeneProduct | ensembl:ENSG00000273079 | |
ARL10 | GeneProduct | ensembl:ENSG00000175414 | |
NOP16 | GeneProduct | ensembl:ENSG00000048162 | |
PFN3 | GeneProduct | ensembl:ENSG00000196570 | |
COX7C | GeneProduct | ensembl:ENSG00000127184 | |
SOS1 | GeneProduct | ensembl:ENSG00000115904 | |
PIK3R1 | GeneProduct | ensembl:ENSG00000145675 | |
F-Actin | GeneProduct | pfam:PF00022 | |
MT-CO3 | GeneProduct | ensembl:ENSG00000198938 | |
FBXW7 | GeneProduct | ensembl:ENSG00000109670 | |
H2AX | GeneProduct | ensembl:ENSG00000188486 | |
HK3 | GeneProduct | ensembl:ENSG00000160883 | |
SIMC1 | GeneProduct | ensembl:ENSG00000170085 | |
GAB1 | GeneProduct | ensembl:ENSG00000109458 | |
Actin | GeneProduct | rfam:PF00022 | |
ABL1 | GeneProduct | ensembl:ENSG00000097007 | |
NTN1 | GeneProduct | ensembl:ENSG00000065320 | |
BARD1 | GeneProduct | ensembl:ENSG00000138376 | |
ARFGAP2 | GeneProduct | ensembl:ENSG00000149182 | |
FGF19 | GeneProduct | ensembl:ENSG00000162344 | |
UIMC1 | GeneProduct | ensembl:ENSG00000087206 | |
GRK6 | GeneProduct | ensembl:ENSG00000198055 | |
RNF44 | GeneProduct | ensembl:ENSG00000146083 | |
EIF4E1B | GeneProduct | ensembl:ENSG00000175766 | |
RGS14 | GeneProduct | ensembl:ENSG00000169220 | |
CXCR4 | GeneProduct | ensembl:ENSG00000121966 | |
MYO7B | GeneProduct | ensembl:ENSG00000169994 | |
TRIAP1 | GeneProduct | ensembl:ENSG00000170855 | |
PNPLA2 | GeneProduct | ensembl:ENSG00000177666 | |
COX6B1 | GeneProduct | ensembl:ENSG00000126267 | |
MAPK8 | GeneProduct | ensembl:ENSG00000107643 | |
MXD3 | GeneProduct | ensembl:ENSG00000213347 | |
GNAI1 | GeneProduct | ensembl:ENSG00000127955 | |
HIP1R | GeneProduct | ensembl:ENSG00000130787 | |
COX6C | GeneProduct | ensembl:ENSG00000164919 | |
CYP7A1 | GeneProduct | ensembl:ENSG00000167910 | |
MT-CO2 | GeneProduct | ensembl:ENSG00000198712 | |
INPP5D | GeneProduct | ensembl:ENSG00000168918 | |
CLTB | GeneProduct | ensembl:ENSG00000175416 | |
BABAM1 | GeneProduct | ensembl:ENSG00000105393 | |
COX7B | GeneProduct | ensembl:ENSG00000131174 | |
CAPN3 | GeneProduct | ensembl:ENSG00000092529 | |
EED | GeneProduct | ensembl:ENSG00000074266 | |
RN7SL684P | GeneProduct | ensembl:ENSG00000243959 | |
ADAM10 | GeneProduct | ensembl:ENSG00000137845 | |
CDHR2 | GeneProduct | ensembl:ENSG00000074276 |
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