NF1 copy number variation syndrome (WP5366)
Homo sapiens
The NF1 deletion and NF1 duplication, ranging from chr17: 29,100,000 to chr17: 30,280,000 can result in a loss of up to 14 protein coding genes, including NF1.
Authors
Ninagerrekens , Friederike Ehrhart , Egon Willighagen , Kristina Hanspers , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Annotations
Disease Ontology
neurofibromatosis 1Pathway Ontology
disease pathwayLabel | Type | Compact URI | Comment |
---|---|---|---|
GABA | Metabolite | chebi:59888 | |
InsP4 | Metabolite | pubchem.compound:107758 | |
Double strandedDNA | Metabolite | chebi:75909 | |
cAMP | Metabolite | hmdb:HMDB0000058 | |
PtdInsP3 | Metabolite | pubchem.compound:101362114 | |
InsP3 | Metabolite | pubchem.compound:439456 | |
GTP | Metabolite | chebi:15996 | |
GDP | Metabolite | chebi:17552 | |
SUZ12 | GeneProduct | ensembl:ENSG00000178691 | |
NF1 | GeneProduct | ensembl:ENSG00000196712 | |
CRLF3 | GeneProduct | ensembl:ENSG00000176390 | |
ADAP2 | GeneProduct | ensembl:ENSG00000184060 | centaurin aplha2 is a synonym for ADAP2concentrated at the plasma membrane in unstilmulated cells during human foetal development it was found to be expressed in the skeletal muscle, heart and brain |
UTP6 | GeneProduct | ensembl:ENSG00000108651 | |
CCNE1 | GeneProduct | ensembl:ENSG00000105173 | |
ATAD5 | GeneProduct | ensembl:ENSG00000176208 | |
EVI2A | GeneProduct | ensembl:ENSG00000126860 | |
CRY1 | GeneProduct | ensembl:ENSG00000008405 | |
RAD9A | GeneProduct | ensembl:ENSG00000172613 | |
SUZ12P | GeneProduct | ensembl:ENSG00000264538 | pseudogene |
EGFR | GeneProduct | ensembl:ENSG00000146648 | |
PCNA | GeneProduct | ensembl:ENSG00000132646 | |
EVI2B | GeneProduct | ensembl:ENSG00000185862 | |
HOXA9 | GeneProduct | ensembl:ENSG00000078399 | |
COPRS | GeneProduct | ensembl:ENSG00000172301 | |
TEFM | GeneProduct | ensembl:ENSG00000172171 | |
RNF135 | GeneProduct | ensembl:ENSG00000181481 | |
OMG | GeneProduct | ensembl:ENSG00000126861 | |
CTD-2370N5.3 | GeneProduct | ensembl:ENSG00000265118 | |
BCL2 | GeneProduct | ensembl:ENSG00000171791 | |
ADAP2 | GeneProduct | ensembl:ENSG00000184060 | centaurin aplha2 is a synonym for ADAP2concentrated at the plasma membrane in unstilmulated cellsduring human foetal development it was found to be expressed in the skeletal muscle, heart and brain |
CTD-2349P21.10 | GeneProduct | ensembl:ENSG00000265791 | sense intronic |
CTD-2349P21.9 | GeneProduct | ensembl:ENSG00000266490 | LincRNA |
CTD-2349P21.1 | GeneProduct | ensembl:ENSG00000242439 | pseudogene |
CTD-2349P21.11 | GeneProduct | ensembl:ENSG00000265334 | antisense RNA |
RNU6-298P | GeneProduct | ensembl:ENSG00000212190 | |
RP13-753N3.1 | GeneProduct | ensembl:ENSG00000263531 | antisene RNA |
AC091177.1 | GeneProduct | ensembl:ENSG00000230113 | antisense RNA |
RN7SL138P | GeneProduct | ensembl:ENSG00000266274 | |
RP11-848P1.3 | GeneProduct | ensembl:ENSG00000265743 | |
RP11-848P1.2 | GeneProduct | ensembl:ENSG00000264456 | sense intronic |
DPRXP4 | GeneProduct | ensembl:ENSG00000264743 | pseudogene |
RP11-848P1.4 | GeneProduct | ensembl:ENSG00000266340 | antisense RNA |
RP11-848P1.7 | GeneProduct | ensembl:ENSG00000264148 | pseudogene |
RP11-848P1.9 | GeneProduct | ensembl:ENSG00000266865 | pseudogene |
RP11-271K11.5 | GeneProduct | ensembl:ENSG00000265798 | pseudogene |
RP11-848P1.2 | GeneProduct | ensembl:ENSG00000264456 | antisense RNA |
MIR4733 | GeneProduct | ensembl:ENSG00000265444 | miRNA |
RP11-142O6.1 | GeneProduct | ensembl:ENSG00000266371 | sense intronic |
AK4P1 | GeneProduct | ensembl:ENSG00000263535 | pseudogene |
RN7SL79P | GeneProduct | ensembl:ENSG00000239595 | Misc RNA |
RN7SL45P | GeneProduct | ensembl:ENSG00000264862 | Misc RNA |
MIR4724 | GeneProduct | ensembl:ENSG00000266459 | Micro RNA |
MIR193A | GeneProduct | ensembl:ENSG00000207614 | Micro RNA |
RNU6ATAC7P | GeneProduct | ensembl:ENSG00000221038 | SnRNA |
AC003101.1 | GeneProduct | ensembl:ENSG00000228768 | |
MIR4725 | GeneProduct | ensembl:ENSG00000265976 | miRNA |
MIR365B | GeneProduct | ensembl:ENSG00000199187 | miRNA |
RP1-41C23.1 | GeneProduct | ensembl:ENSG00000266877 | LincRNA |
RP11-805L22.1 | GeneProduct | ensembl:ENSG00000266448 | pseudogene |
RNU6-1134P | GeneProduct | ensembl:ENSG00000202026 | SnRNA |
RP11-805L22.2 | GeneProduct | ensembl:ENSG00000265863 | pseudogene |
RP11-805L22.3 | GeneProduct | ensembl:ENSG00000263567 | LincRNA |
CTC-542B22.1 | GeneProduct | ensembl:ENSG00000265046 | LincRNA |
CCNE2 | GeneProduct | ensembl:ENSG00000175305 | |
PER1 | GeneProduct | ensembl:ENSG00000179094 | |
CTC-542B22.2 | GeneProduct | ensembl:ENSG00000263990 | LincRNA |
MYT1 | GeneProduct | ensembl:ENSG00000196132 | |
HOXA1 | GeneProduct | ensembl:ENSG00000105991 | |
CCNA2 | GeneProduct | ensembl:ENSG00000145386 | |
PSMD11 | GeneProduct | ensembl:ENSG00000196132 | |
SYBL1 | GeneProduct | ensembl:ENSG00000196132 | |
MGAT4B | GeneProduct | ensembl:ENSG00000196132 | |
EML4 | GeneProduct | ensembl:ENSG00000196132 | |
SRD6A1 | GeneProduct | ensembl:ENSG00000196132 | |
RBMS1 | GeneProduct | ensembl:ENSG00000196132 | |
EIF3A | GeneProduct | ensembl:ENSG00000107581 | |
RAB11FIP4 | GeneProduct | ensembl:ENSG00000131242 | |
SPT5 | Protein | uniprot:O00267 | |
INPP5A | Protein | uniprot:Q14642 | protein is called inositol polyphosphate-5-phosphatase |
PRMT5 | Protein | uniprot:O14744 | COPRS binds to histone 4, this binding allows PRMT5 to bind to the DNA (chromatin) and the binding of PRMT5 to the DNA activates the function of PRMT5 |
DNMT1 | Protein | uniprot:P26358 | |
MCL1 | Protein | uniprot:Q07820 | |
SOS1 | Protein | uniprot:Q07889 | |
IFN-β | Protein | uniprot:P01574 | |
ARF6 | Protein | uniprot:P62330 | |
POLRMT | Protein | uniprot:O00411 | |
E2F6 | Protein | uniprot:O75461 | |
MEK1 | Protein | uniprot:Q13233 | |
RIG-I | Protein | uniprot:O95786 | |
RFC2 | Protein | uniprot:P35250 | |
Histone H4 | Protein | uniprot:P62805 | |
ATR | Protein | uniprot:Q13535 | |
MAP2 | Protein | uniprot:P50579 | |
RAF | Protein | uniprot:P04049 | |
NGFR | Protein | uniprot:P08138 | |
RAD51 | Protein | uniprot:Q06609 | |
ROCK2 | Protein | uniprot:O75116 | |
SYNDECAN-2 | Protein | uniprot:P34741 | |
IPS-1 | Protein | uniprot:Q7Z434 | |
RHOA | Protein | uniprot:P61586 | |
NOGOR | Protein | uniprot:Q9BZR6 | |
USP1 | Protein | uniprot:O94782 | |
LIMK | Protein | uniprot:P53667 | |
EZH1 | Protein | uniprot:Q92800 | |
TUBULIN-β | Protein | uniprot:P07437 | |
ENA/VASP | Protein | uniprot:Q9UI08 | |
ATAD5 | Protein | uniprot:Q96QE3 | |
COFILIN | Protein | uniprot:P23528 | |
WDR48 | Protein | uniprot:Q8TAF3 | |
RFC3 | Protein | uniprot:P40938 | |
EGF | Protein | uniprot:P01133 | |
SYN1 | Protein | uniprot:P17600 | |
RFC5 | Protein | uniprot:P40937 | |
RFC4 | Protein | uniprot:P35249 | |
RAS family | Protein | interpro:cd04138 | |
RAS family | Protein | interpro:cd04138 | This is the inactive state of RAS so NF1 downregulates the RAS signalling pathway and can be |
MEK2 | Protein | uniprot:Q9Y2U5 | |
ERK1 | Protein | uniprot:P27361 | |
ERK2 | Protein | uniprot:P28482 | |
PKA | Protein | brenda:2.7.11.11 | |
LIMK1 | Protein | uniprot:P53667 | |
COFILIN | Protein | uniprot:P23528 | by phosphorylating cofilin, cofilin becomes inactive |
RAF | Protein | uniprot:P04049 | formation of heterodimer of two RAF |
NGF | Protein | uniprot:P01138 | |
SUZ12 | Protein | uniprot:Q15022 | |
JARID2 | Protein | uniprot:Q92833 | |
EED | Protein | uniprot:O75530 | |
RBBP7 | Protein | uniprot:Q16576 | |
UTP6 | Protein | uniprot:Q9NYH9 | |
Histone H3.1 | Protein | uniprot:P68431 | |
Histone H3.2 | Protein | uniprot:Q71DI3 | |
RAB11 | Protein | uniprot:P62491 | |
EXOC1 | Protein | uniprot:Q9NV70 | SEC3 |
EXOC4 | Protein | uniprot:Q96A65 | SEC8 |
EXOC3 | Protein | uniprot:O60645 | SEC6 |
EXOC2 | Protein | uniprot:Q96KP1 | SEC 5 |
EXOC7 | Protein | uniprot:Q9UPT5 | EXO70 |
EXOC5 | Protein | uniprot:O00471 | |
EXOC8 | Protein | uniprot:Q8IYI6 | |
EXOC6 | Protein | uniprot:Q8TAG9 | SEC15 |
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