11p11.2 copy number variation syndrome (Homo sapiens)

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418323562353645176412531206445571354759146, 16, 1925565859chr11:43,940,000unknown functionheparan synthesis and cartilage formationN-CAM promoterunknown functionchr11:46,020,000transcription regulationexact function unknownHLA-DRAC11orf96succinateIGSF83'-phospho-5'-adenylyl sulfateSYT13ITGA3VANGL1adenosine 3',5'-bisphosphateCD53UDPBMAL1LGALS3BPHBEGFFe2+RESTCD63CHST6O2EXT2SDCBP3-O-{α-D-GlcNAc-[(1→4)-β-D-GlcA-(1→4)-α-D-GlcNAc](n)-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl}-L-seryl-[protein]GLI3TSPAN18ITGB2B4GALT4MAPK8IP1HLA-DMAITGB1IZUMO1PRDM11Alpha-DystroglycanUDP-N-acetyl-alpha-D-glucosamineCD63HLA-DMBan N1-methyladenosine in mRNAITGA4CD4keratan 6'-sulfate2-oxoglutarateL-vinylglycineTIMP1NDST1PHF21AMg2+SHHB3GNT7MS4A1formaldehydeCO2TP53TP53I11EXT1CD19LEF1CD82CD151CHST1ALX4AMP residueACCSITGA6CLOCKSyndecanCRY2SLC35C1BHC complexSPPL2CALKBH33-O-{[(1→4)-β-D-GlcA-(1→4)-α-D-GlcNAc](n)-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl}-L-seryl-[protein]B4GAT1Keratan37434650493, 22, 333937, 6352NRXN1GDP-b-L-fucose (in)GMP (out)GDP-b-L-fucose (out)GMP (in)Circadian regulationMAPK signallingC11orf94PEX16PMP34Pex3LARGE2Histone modificationsEXT24545ALX4575757474747unknown function6, 16, 19PHF21A6, 16, 19


Description

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).

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History

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CompareRevisionActionTimeUserComment
127123view14:11, 4 August 2023FehrhartModified description
127122view14:10, 4 August 2023FehrhartModified description
127121view13:59, 4 August 2023Fehrhartcorrections in progress
127120view12:29, 4 August 2023Fehrhartcorrection in progress
127119view12:10, 4 August 2023Fehrhartcorrection in progress
126436view11:00, 28 April 2023EgonwRemoved weird characters in the Ensembl ID
126179view05:44, 13 April 2023EgonwMade three pathways clickable
126150view14:04, 11 April 2023Ash iyerFixed some interactions
126110view15:19, 6 April 2023FehrhartOntology Term : 'disease pathway' added !
126101view17:23, 5 April 2023Melrose2023Highlighted the deleted regions EXT2, ALX4 and PHF21A in the CNV syndrome Potocki-Shaffer
126095view09:04, 5 April 2023Melrose2023corrected spelling of GDP-β-L-fucose
126091view22:04, 4 April 2023Melrose2023rectangle around pathway nodes
126090view21:55, 4 April 2023Melrose2023C11orf94, TCTN3 and TP53I11 - Identifier changed Ras related protein Rab-10 - Change database
126025view16:44, 28 March 2023Melrose2023Modified title
126024view16:43, 28 March 2023Melrose2023Modified title
126023view16:42, 28 March 2023Melrose2023Modified description
126022view16:40, 28 March 2023Melrose2023New pathway

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DataNodes

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NameTypeDatabase referenceComment
2-oxoglutarateMetabolite16810 (ChEBI)
3'-phospho-5'-adenylyl sulfateMetaboliteDB02902 (DrugBank)
3-O-{[(1→4)-β-D-GlcA-(1→4)-α-D-GlcNAc](n)-(1→4)-β-D-GlcA-(1→3)- β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl}-L-seryl-[protein]Metabolite132415 (ChEBI)
3-O-{α-D-GlcNAc-[(1→4)-β-D-GlcA-(1→4)-α-D-GlcNAc](n)-(1→4)-β-D-GlcA- (1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl}-L-seryl-[protein]Metabolite132416 (ChEBI)
ACCSGeneProductENSG00000110455 (Ensembl)
ALKBH3GeneProductENSG00000166199 (Ensembl)
ALX4GeneProductENSG00000052850 (Ensembl)
AMP residueMetabolite74411 (ChEBI)
Alpha-DystroglycanMetabolite405235951 (PubChem-compound)
B3GNT7GeneProductENSG00000156966 (Ensembl)
B4GALT4GeneProductENSG00000121578 (Ensembl)
B4GAT1GeneProductENSG00000174684 (Ensembl)
BHC complexComplex
BMAL1GeneProductO00327 (Uniprot-TrEMBL)
C11orf94GeneProductENSG00000234776 (Ensembl)
C11orf96GeneProductENSG00000187479 (Ensembl)
CD151GeneProductENSG00000177697 (Ensembl)
CD19GeneProductENSG00000177455 (Ensembl)
CD4GeneProductENSG00000010610 (Ensembl)
CD53GeneProductENSG00000143119 (Ensembl)
CD63GeneProductENSG00000135404 (Ensembl)
CD82GeneProductENSG00000085117 (Ensembl) KAI1
CHST1GeneProductENSG00000175264 (Ensembl)
CHST6GeneProductENSG00000183196 (Ensembl)
CLOCKGeneProductENSG00000134852 (Ensembl)
CO2Metabolite16526 (ChEBI)
CRY2GeneProductENSG00000121671 (Ensembl)
Circadian regulationPathwayWP410 (WikiPathways)
EXT1GeneProductENSG00000182197 (Ensembl)
EXT2GeneProductENSG00000151348 (Ensembl)
Fe2+MetaboliteCHEBI:29033 (ChEBI)
GDP-b-L-fucose (in)MetaboliteCHEBI:57273 (ChEBI)
GDP-b-L-fucose (out)MetaboliteCHEBI:57273 (ChEBI)
GLI3GeneProductENSG00000106571 (Ensembl)
GMP (in)MetaboliteCHEBI:58115 (ChEBI)
GMP (out)MetaboliteCHEBI:58115 (ChEBI)
HBEGFGeneProductENSG00000113070 (Ensembl)
HLA-DMAGeneProductENSG00000204257 (Ensembl)
HLA-DMBGeneProductENSG00000242574 (Ensembl)
HLA-DRAGeneProductENSG00000204287 (Ensembl)
Histone modificationsPathwayWP3123 (WikiPathways)
IGSF8GeneProductENSG00000162729 (Ensembl)
ITGA3GeneProductENSG00000005884 (Ensembl)
ITGA4GeneProductENSG00000115232 (Ensembl)
ITGA6GeneProductENSG00000091409 (Ensembl)
ITGB1GeneProductENSG00000150093 (Ensembl)
ITGB2GeneProductENSG00000160255 (Ensembl)
IZUMO1GeneProductENSG00000182264 (Ensembl)
KeratanMetabolite446715 (PubChem-compound)
L-vinylglycineMetabolite156126 (PubChem-compound)
LARGE2GeneProductENSG00000165905 (Ensembl) GYLTL1B
LEF1GeneProductENSG00000138795 (Ensembl)
LGALS3BPGeneProductENSG00000108679 (Ensembl)
MAPK signallingPathwayWP880 (WikiPathways)
MAPK8IP1GeneProductENSG00000121653 (Ensembl)
MS4A1GeneProductENSG00000156738 (Ensembl)
Mg2+MetaboliteCHEBI:18420 (ChEBI)
NDST1GeneProductENSG00000070614 (Ensembl)
NRXN1GeneProductENSG00000179915 (Ensembl)
O2MetaboliteCHEBI:15379 (ChEBI)
PEX16GeneProductENSG00000121680 (Ensembl)
PHF21AGeneProductENSG00000135365 (Ensembl)
PMP34ProteinO43808 (Uniprot-TrEMBL)
PRDM11GeneProductENSG00000019485 (Ensembl)
Pex3ProteinP56589 (Uniprot-TrEMBL)
RESTGeneProductENSG00000084093 (Ensembl)
SDCBPGeneProductENSG00000137575 (Ensembl)
SHHGeneProductENSG00000164690 (Ensembl)
SLC35C1GeneProductENSG00000181830 (Ensembl)
SPPL2CGeneProductENSG00000185294 (Ensembl)
SYT13GeneProductENSG00000019505 (Ensembl)
SyndecanGeneProductPF01034 (Pfam)
TIMP1GeneProductENSG00000102265 (Ensembl)
TP53GeneProductENSG00000141510 (Ensembl)
TP53I11GeneProductENSG00000175274 (Ensembl)
TSPAN18GeneProductENSG00000157570 (Ensembl)
UDP-N-acetyl-alpha-D-glucosamineMetabolite57705 (ChEBI)
UDPMetabolite58223 (ChEBI)
VANGL1GeneProductENSG00000173218 (Ensembl)
adenosine 3',5'-bisphosphateMetabolite159296 (PubChem-compound)
an N1-methyladenosine in mRNAMetabolite74491 (ChEBI)
formaldehydeMetaboliteCHEBI:16842 (ChEBI)
keratan 6'-sulfateMetabolite18331 (ChEBI)
succinateMetaboliteCHEBI:30031 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
3-O-{[(1→4)-β-D-GlcA-(1→4)-α-D-GlcNAc](n)-(1→4)-β-D-GlcA-(1→3)- β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl}-L-seryl-[protein]3-O-{α-D-GlcNAc-[(1→4)-β-D-GlcA-(1→4)-α-D-GlcNAc](n)-(1→4)-β-D-GlcA- (1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl}-L-seryl-[protein]mim-conversion16213 (Rhea)
UDP-N-acetyl-alpha-D-glucosamineUDPmim-conversion16213 (Rhea)
mim-catalysis16213 (Rhea)
mim-conversion49516 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5348"
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