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 WeitzActivity
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Pathway Ontology
disease pathwayDisease Ontology
Potocki-Lupski syndrome Smith-Magenis syndromeLabel | 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 synonymsexpressed on CD27+ B memory cellsreceptor 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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