Smith-Magenis and Potocki-Lupski syndrome copy number variation (WP5381)

Homo sapiens

The Smith-Magenis syndrome, is the result from a deletion of chr17:chr17:16,82-18,28, while the Potocki-Lupski syndrome is the result of a duplication of this area.

Authors

Ninagerrekens , Egon Willighagen , Aishwarya Iyer , Friederike Ehrhart , Kristina Hanspers , Lars Willighagen , and Eric Weitz

Activity

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

disease pathway

Disease Ontology

Potocki-Lupski syndrome Smith-Magenis syndrome

Participants

Label Type Compact URI Comment
Thymine Metabolite chebi:17821
PDME Metabolite chebi:64572
phosphatidate Metabolite chebi:57739
PE Metabolite chebi:16038
Uracil Metabolite chebi:17568
cardiolipin Metabolite chebi:28494
diacylglycerol Metabolite chebi:85694
ROS Metabolite chebi:26523
mRNA Metabolite chebi:33699
cortisol Metabolite chebi:17650
Zinc 2+ Metabolite chebi:29105
one-carbon compound Metabolite chebi:64708
L-serine Metabolite chebi:33384
melatonin Metabolite chebi:16796
glycine Metabolite chebi:57305
Magnesium 2+ Metabolite chebi:18420
pyridoxal 5'-phosphate(2-) Metabolite chebi:597326 cofactor
mRNA Metabolite chebi:33699 demethylation of N6-methyladenosine (m6A)
PMME Metabolite chebi:64573
phosphatidylcholine Metabolite chebi:64482
LRRC48 GeneProduct ensembl:ENSG00000171962
MPRIP GeneProduct ensembl:ENSG00000133030 KIAA0864, M-RIP, MRIP, RHOIP3, RIP3, p116Rip are other names for MPRIP
PEMT GeneProduct ensembl:ENSG00000133027
NT5M GeneProduct ensembl:ENSG00000205309
TNFRSF13B GeneProduct ensembl:ENSG00000240505 CD267, CVID, CVID2, RYZN, TACI, TNFRSF14B are synonyms
expressed on CD27+ B memory cells
receptor for TNFSF 13 and BAFF
COPS3 GeneProduct ensembl:ENSG00000141030
ATPAF2 GeneProduct ensembl:ENSG00000171953
RAI1 GeneProduct ensembl:ENSG00000108557
GID4 GeneProduct ensembl:ENSG00000141034
ALKBH5 GeneProduct ensembl:ENSG00000091542
DRG2 GeneProduct ensembl:ENSG00000108591
MIEF2 GeneProduct ensembl:ENSG00000177427 outer mitochondrial membrane
TOP3A GeneProduct ensembl:ENSG00000177302
FLII GeneProduct ensembl:ENSG00000177731
RASD1 GeneProduct ensembl:ENSG00000108551
TOM1L2 GeneProduct ensembl:ENSG00000175662
FLCN GeneProduct ensembl:ENSG00000154803
MYO15A GeneProduct ensembl:ENSG00000091536 expressed in hair cells of the inner ear
SREBF1 GeneProduct ensembl:ENSG00000072310
MED9 GeneProduct ensembl:ENSG00000141026
LLGL1 GeneProduct ensembl:ENSG00000131899
SHMT1 GeneProduct ensembl:ENSG00000176974
SMCR8 GeneProduct ensembl:ENSG00000176994
Y RNA GeneProduct ensembl:ENSG00000201378 misc RNA
MIR33B GeneProduct ensembl:ENSG00000207839 MiRNA
SMCR5 GeneProduct ensembl:ENSG00000226746 antisense
SMCR2 GeneProduct ensembl:ENSG00000223979 LincRNA
RP11-45M22.4 GeneProduct ensembl:ENSG00000264187
PLD6 GeneProduct ensembl:ENSG00000179598 ZUC and MitoPLD are different names for PLD6
TNFRSF13B GeneProduct ensembl:ENSG00000240505 CD267, CVID, CVID2, RYZN, TACI, TNFRSF14B are synonyms
expressed on CD27+ B memory cells
receptor for TNFSF 13 and BAFF
IRF8 Protein uniprot:Q02556
ITPK1 Protein uniprot:Q13572
JUN Protein uniprot:P05412
TFE3 Protein uniprot:P19532
TFEB Protein uniprot:P19484
PTEN Protein uniprot:P60484
CRY1 Protein ncbigene:1407
CREB1 Protein ensembl:ENSG00000118260
STAT3 Protein uniprot:P40763
lipin family Protein interpro:IPR026058
LDHA Protein uniprot:P00338
PRKAA1 Protein uniprot:Q13131
UBP8 Protein uniprot:P40818
FHOD1 Protein uniprot:Q9Y613
AP-1 family Protein uniprot:IPR000837
MLST8 Protein uniprot:Q9BVC4
RRAGA Protein uniprot:Q7L523
APP Protein uniprot:P05067
FE65 Protein uniprot:O00213
YAP1 Protein uniprot:P46937
MIGA1 Protein uniprot:Q8NAN2
MYC Protein uniprot:P01106
TP53 Protein uniprot:P04637
CARM1 Protein uniprot:Q86X55
MAEA Protein uniprot:Q7L5Y9
DRC1 Protein uniprot:Q96MC2
PRKN Protein uniprot:O60260
C9ORF72 Protein uniprot:Q96LT7
NR1H3 Protein uniprot:Q13133
TLR4 Protein uniprot:O00206
RAB8A Protein uniprot:P61006
RNF41 Protein uniprot:Q9H4P4
NFKB1 Protein uniprot:P19838
IFT81 Protein uniprot:Q8WYA0
PCK1 Protein uniprot:P35558
NR1H2 Protein uniprot:P55055
TOLLIP Protein uniprot:Q9H0E2
WDR41 Protein uniprot:Q9HAD4
RO60 Protein ensembl:P10155
MYH2 Protein uniprot:Q9UKX2
CLTC Protein uniprot:Q00610
TNF Protein uniprot:P01375
GRIP1 Protein uniprot:Q9Y3R0
PARD6B Protein uniprot:Q9BYG5
CLTA Protein uniprot:P09496
SREB2 Protein uniprot:P60893
HBP1 Protein uniprot:O60381
MYO16 Protein uniprot:Q9Y6X6
ARG2 Protein uniprot:P78540
SMCR8 Protein uniprot:Q8TEV9
DRP1 Protein uniprot:O43583
GDI2 Protein uniprot:P50395
FOXA1 Protein uniprot:P55317
FNIP2 Protein uniprot:Q9P278
MAP3K14 Protein uniprot:Q99558 NIK is short for NF-κB-inducing kinase
MYPT1 Protein uniprot:O14974
BAFF Protein uniprot:Q8JHJ4 Blys is a synonym
PRDM1 Protein uniprot:O75626
BAX Protein uniprot:Q07812
CLEC16A Protein uniprot:Q2KHT3
CFL2 Protein uniprot:Q9Y281
CRY1 Protein uniprot:Q16526
BCL2L11 Protein uniprot:O43521 also known as BCL2L11
CRY2 Protein uniprot:Q49AN0
PER1 Protein uniprot:O15534
CRY2 Protein ncbigene:1408
PER1 Protein ncbigene:5187
ROCK1 Protein uniprot:Q13464
LIMK1 Protein uniprot:P53667
BML Protein uniprot:P54132
TNFSF13 Protein uniprot:O75888 APRIL is a synonym of TNFSF13
RMI2 Protein uniprot:Q96E14
RMI1 Protein uniprot:Q9H9A7
TOP3A Protein uniprot:Q13472
BMAL1 Protein uniprot:O00327
RhoA Protein uniprot:P61586
CDK1 Protein uniprot:P06493
BIRC2 Protein uniprot:E9PI77 cIAP-1 is a synonym for BIRC2
BCL6 Protein uniprot:A0A0C4DH53
CLOCK Protein uniprot:O15516
RAB39B Protein uniprot:Q96DA2
ULK1 Protein uniprot:O75385
RB1CC1 Protein uniprot:Q8TDY2 FIP200
ATG13 Protein uniprot:O75143
ATG101 Protein uniprot:Q9BSB4
RPTOR Protein uniprot:Q8N122
MTOR Protein uniprot:P42345
MYD88 Protein uniprot:Q99836
RELA Protein uniprot:Q04206
IL1B Protein uniprot:P01584 proinflammatory cytokine
PRKCI Protein uniprot:P41743
PARD3 Protein uniprot:Q8TEW0
RAB10 Protein uniprot:P61026
DRC3 Protein uniprot:Q9H069 Is protein of LRRC48
CCDC65 Protein uniprot:Q8IXS2
GAS8 Protein uniprot:O95995
TCTE1 Protein uniprot:Q5JU00
FBXL13 Protein uniprot:Q8NEE6
DRC7 Protein uniprot:Q8IY82
EFCAB2 Protein uniprot:Q5VUJ9
IQCG Protein uniprot:Q9H095
IQCD Protein uniprot:Q96DY2
IQCA1 Protein uniprot:Q86XH1
IFT74 Protein uniprot:Q96LB3
IFT22 Protein uniprot:Q9H7X7
TTC26 Protein uniprot:A0AVF1
IFT46 Protein uniprot:Q9NQC8
IFT52 Protein uniprot:Q9Y366
IFT172 Protein uniprot:Q9UG01
IFT80 Protein uniprot:Q9P2H3
IFT88 Protein uniprot:Q13099
TTC30B Protein uniprot:Q8N4P2
IFT57 Protein uniprot:Q9NWB7
CLUAP1 Protein uniprot:Q96AJ1
IFT20 Protein uniprot:Q8IY31
IFT27 Protein uniprot:Q9BW83
IFT25 Protein uniprot:Q9Y547
TRAF3IP1 Protein uniprot:Q8TDR0
TOM1L2 Protein uniprot:Q6ZVM7
CLTA Protein uniprot:P09496 Clathrin a
CLTB Protein uniprot:P09497 Clathrin a
G6PC1 Protein uniprot:P35575
FOXA2 Protein uniprot:Q9Y261
HES6 Protein uniprot:Q96HZ4
FERD3L Protein uniprot:Q96RJ6
MKLN1 Protein uniprot:Q9UL63
ARMC8 Protein uniprot:Q8IUR7
WDR26 Protein uniprot:Q9H7D7
RMND5A Protein uniprot:Q9H871
RANBP9 Protein uniprot:Q96S59
GID4 Protein uniprot:Q8IVV7
MIGA2 Protein uniprot:Q7L4E1
PRKAG2 Protein uniprot:Q9UGJ0
PRKAB1 Protein uniprot:Q9Y478
WWTR1 Protein uniprot:Q9GZV5
ETV5 Protein uniprot:P41161
PPP1R14A Protein uniprot:Q96A00
FNIP1 Protein uniprot:Q8TF40
COPS7A Protein uniprot:Q9UBW8
COPS5 Protein uniprot:Q92905
COPS6 Protein uniprot:Q7L5N1
COPS8 Protein uniprot:Q99627
COPS3 Protein uniprot:Q9UNS2
COPS2 Protein uniprot:P61201
COPS4 Protein uniprot:Q9BT78
GPS1 Protein uniprot:Q13098
CREB Protein ensembl:ENSG00000118260

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