11p11.2 copy number variation syndrome (WP5348)

Homo sapiens

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The molecular pathways of genes located at the region 11p11.2. A deletion in 11p11.2 can cause the Potocki-Shaffer syndrome (MIM # 601224) which is characterised by malformations in the heart, kidney and urinary tract. The chromosomal location was taken from Kirov et al. 2014 and literature cited there (chr11:43940000-46020000, GRCh37).

Authors

Esther Umwamikazi , Friederike Ehrhart , Aishwarya Iyer , Egon Willighagen , Eric Weitz , and Kristina Hanspers

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Diseases ONTOX Rare Diseases

Annotations

Disease Ontology

Potocki-Shaffer syndrome

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
Mg2+ Metabolite chebi:18420
O3-(poly[(1→4)-β-D-glucuronosyl-(1→4)-N-acetyl-α-D-glucosaminyl]-(1→4)-β-D-glucuronosyl-(1→3)-β-D-galactosyl-(1→3)-β-D-galactosyl-(1→4)-β-D-xylosyl)-L-serine residue Metabolite chebi:132415
adenosine 3',5'-bisphosphate Metabolite pubchem.compound:159296
keratan 6'-sulfate Metabolite chebi:18331
Alpha-Dystroglycan Metabolite pubchem.compound:405235951
Keratan Metabolite pubchem.compound:446715
an N1-methyladenosine in mRNA Metabolite chebi:74491
O2 Metabolite chebi:15379
2-oxoglutarate Metabolite chebi:16810
O3-(N-acetyl-α-D-glucosaminyl-poly[(1→4)-β-D-glucuronosyl-(1→4)-N-acetyl-α-D-glucosaminyl]-(1→4)-β-D-glucuronosyl-(1→3)-β-D-galactosyl-(1→3)-β-D-galactosyl-(1→4)-β-D-xylosyl)-L-serine residue Metabolite chebi:132416
formaldehyde Metabolite chebi:16842
Fe2+ Metabolite chebi:29033
L-vinylglycine Metabolite pubchem.compound:156126
succinate Metabolite chebi:30031
UDP Metabolite chebi:58223
AMP residue Metabolite chebi:74411
CO2 Metabolite chebi:16526
UDP-N-acetyl-alpha-D-glucosamine Metabolite chebi:57705
3'-phospho-5'-adenylyl sulfate Metabolite drugbank:DB02902
GDP-b-L-fucose (in) Metabolite chebi:57273
GMP (out) Metabolite chebi:58115
GDP-b-L-fucose (out) Metabolite chebi:57273
GMP (in) Metabolite chebi:58115
ITGB2 GeneProduct ensembl:ENSG00000160255
SHH GeneProduct ensembl:ENSG00000164690
CLOCK GeneProduct ensembl:ENSG00000134852
REST GeneProduct ensembl:ENSG00000084093
CHST6 GeneProduct ensembl:ENSG00000183196
HLA-DMB GeneProduct ensembl:ENSG00000242574
PRDM11 GeneProduct ensembl:ENSG00000019485
GLI3 GeneProduct ensembl:ENSG00000106571
ITGA6 GeneProduct ensembl:ENSG00000091409
TIMP1 GeneProduct ensembl:ENSG00000102265
LEF1 GeneProduct ensembl:ENSG00000138795
IGSF8 GeneProduct ensembl:ENSG00000162729
SPPL2C GeneProduct ensembl:ENSG00000185294
HLA-DRA GeneProduct ensembl:ENSG00000204287
HLA-DMA GeneProduct ensembl:ENSG00000204257
IZUMO1 GeneProduct ensembl:ENSG00000182264
NDST1 GeneProduct ensembl:ENSG00000070614
SLC35C1 GeneProduct ensembl:ENSG00000181830
CD4 GeneProduct ensembl:ENSG00000010610
CHST1 GeneProduct ensembl:ENSG00000175264
CD63 GeneProduct ensembl:ENSG00000135404
HBEGF GeneProduct ensembl:ENSG00000113070
SYT13 GeneProduct ensembl:ENSG00000019505
CD53 GeneProduct ensembl:ENSG00000143119
Syndecan GeneProduct pfam:PF01034
CRY2 GeneProduct ensembl:ENSG00000121671
ALKBH3 GeneProduct ensembl:ENSG00000166199
CD19 GeneProduct ensembl:ENSG00000177455
ITGA4 GeneProduct ensembl:ENSG00000115232
TP53I11 GeneProduct ensembl:ENSG00000175274
VANGL1 GeneProduct ensembl:ENSG00000173218
C11orf96 GeneProduct ensembl:ENSG00000187479
MAPK8IP1 GeneProduct ensembl:ENSG00000121653
LGALS3BP GeneProduct ensembl:ENSG00000108679
CD82 GeneProduct ensembl:ENSG00000085117 KAI1
CD151 GeneProduct ensembl:ENSG00000177697
ACCS GeneProduct ensembl:ENSG00000110455
B4GALT4 GeneProduct ensembl:ENSG00000121578
BMAL1 GeneProduct uniprot:O00327
B4GAT1 GeneProduct ensembl:ENSG00000174684
SDCBP GeneProduct ensembl:ENSG00000137575
MS4A1 GeneProduct ensembl:ENSG00000156738
TSPAN18 GeneProduct ensembl:ENSG00000157570
EXT2 GeneProduct ensembl:ENSG00000151348
PHF21A GeneProduct ensembl:ENSG00000135365
B3GNT7 GeneProduct ensembl:ENSG00000156966
ITGB1 GeneProduct ensembl:ENSG00000150093
TP53 GeneProduct ensembl:ENSG00000141510
ITGA3 GeneProduct ensembl:ENSG00000005884
EXT1 GeneProduct ensembl:ENSG00000182197
ALX4 GeneProduct ensembl:ENSG00000052850
NRXN1 GeneProduct ensembl:ENSG00000179915
C11orf94 GeneProduct ensembl:ENSG00000234776
PEX16 GeneProduct ensembl:ENSG00000121680
LARGE2 GeneProduct ensembl:ENSG00000165905 GYLTL1B
PMP34 Protein uniprot:O43808
Pex3 Protein uniprot:P56589

References

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