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

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35456261752553147646, 16, 19328593545654159208573613254114transcription regulationexact function unknownheparan synthesis and cartilage formationunknown functionchr11:43,940,000unknown functionN-CAM promoterchr11:46,020,000SPPL2CVANGL1L-vinylglycinekeratan 6'-sulfateALX4HBEGFTP53TP53I11HLA-DMBO2succinateB4GALT4MAPK8IP1an N1-methyladenosine in mRNACD19CLOCK3'-phospho-5'-adenylyl sulfateRESTSYT13TSPAN18B4GAT1CRY2PRDM11MS4A1ACCSC11orf96HLA-DRAAMP residueHLA-DMAadenosine 3',5'-bisphosphateCD63CO2CHST13-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]KeratanFe2+SLC35C1LEF1SyndecanB3GNT7ITGA6IZUMO1EXT2SHHPHF21ASDCBP3-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]ITGA3ITGB1ITGA4UDP-N-acetyl-alpha-D-glucosamineALKBH3TIMP1LGALS3BPCD82CD4EXT1UDPCD151GLI3Mg2+CD532-oxoglutarateBHC complexITGB2NDST1IGSF8formaldehydeCD63CHST6BMAL1Alpha-Dystroglycan503, 22, 3349395237, 63433746NRXN1GDP-b-L-fucose (in)GMP (out)GDP-b-L-fucose (out)GMP (in)Circadian regulationMAPK signallingC11orf94PEX16PMP34Pex3LARGE2Histone modificationsEXT24545ALX45757574747unknown function476, 16, 196, 16, 19PHF21A


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
134455view00:13, 22 July 2024EweitzOntology Term : 'Potocki-Shaffer syndrome' added !
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

External references

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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