NF1 copy number variation syndrome (Homo sapiens)

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4421, 49, 551964521845330, 6510433261, 6753393123504022, 58466492518175349, 608, 675, 19913, 54583, 155226, 6465, 195, 196, 6234, 57523120, 662518, 483843, 593743, 597, 5324, 287307564212111642, 41173537612922347, 535, 1911322535, 476, 6229734, 425316211218, 24, 284034274543, 59343212, 3645microtubules stabillityactin stabilizationcell proliferation, survival, growth and differentiationInvolved in the regulation of dendritic spine development, contributing to the regulation of dendritic branching and filopodia extension change behavior ofAML cellsChr17:29,100,000DNA-damage inducedapoptosis granulocyte differentiation and functionality of hematopoietic progenitor cellscalcium influx function unknownsecond messengers in cell growth, survival and movementRibosome formationand cell growthfunction unknown cell cycle progressionG1/S phaserestriction of excitatory synaps formation in the hippocampustranscription of mtDNA into RNA replication primer formation in mtDNAprogressioncell cycledendritic filopodia formation and contributing to spinogenesis(hippocampal nerves)restart of stalled replication forks axon growth andregenerationData node for a RNA gene EGFREGF/EGFR signaling pathway MAPK signaling pathwayADAP2MEK1DNMT1RHOAInsP4ATRSPT5TUBULIN-βCCNE1INPP5ARAS signaling pathwayPOLRMTRNA Polymerase IIPRMT5ARF6RAD51WDR48InsP3RNF135RFC2SOS1BCL2RAD9AATAD5IFN type 1 signaling pathwayIFN-βMetabolitefocal adhesionRFC3RP11-848P1.3-001USP1rRNA processingCOPRSCTD-2370N5.3MCL1NOGORROCK2RAFEGF SSU ProcessomeATAD5ENA/VASPRIG-IEZH1PtdInsP3RnaSUZ12PTEFMPCNACell cycleOMGEVI2ACOFILINIPS-1HOXA9MAP2LIMKGeneProductcAMPNGFRSUZ12Histone H4EVI2BProteinApoptosisSYNDECAN-2UTP6Double strandedDNANF1Circadian Clock DNA damage bypass pathway GeneProductPathwayE2F6CRLF3CRY1P18RFC5RFC4RAD51PPCNAUb3518, 6618RIG-IUbRAS familyRAS family34MEK2MEK1PMEK2P34, 4234ERK1ERK2PPERK2ERK134, 5734, 5734, 5734, 5734, 57PKAENA/VASPPLIMK1PCOFILINPADAP2RAF18RAFCTD-2349P21.10CTD-2349P21.9CTD-2349P21.1CTD-2349P21.11 RNU6-298PRP13-753N3.1AC091177.1RN7SL138PRP11-848P1.3RP11-848P1.2DPRXP4RP11-848P1.4RP11-848P1.7RP11-848P1.9RP11-271K11.5RP11-848P1.2MIR4733stimulates proliferationRP11-142O6.1NGFAK4P1RN7SL79PRN7SL45PMIR4724MIR193A64RNU6ATAC7PAC003101.1MIR4725MIR365BRP1-41C23.1RP11-805L22.1RNU6-1134PRP11-805L22.2 RP11-805L22.3CTC-542B22.1SPT5MeCCNE25056EGFRMeSOS1PER1CTC-542B22.2SUZ12JARID2EEDRBBP7UTP6Histone H3.1MeHistone H3.2MeHistone H3.1Histone H3.2MYT1HOXA1CCNA2PSMD11SYBL1MGAT4BEML4SRD6A1RBMS1EIF3AChr17: 30,280,000GTP GDP GeneProductData node for a protein coding gene Data node for a pseudogene Data node for a RNA transcriptData node for a protein productData node for a metabolite Data node for a pathwayPMIM-necessary stimulation of an enzyme or a gene that is necessary for activation or expressionMIM-binding of compound to another MIM-conversion of a compound to another MIM-stimulation of an enzyme or a gene leading to activation or expressionMIM-catalysis of a compound by an enzyme MIM-inhibition of a compound's function or a process MIM-transcription of a gene MeComplex Complex Phosphorylated protein UbUbiquitinated protein Methylated protein or gene1414, 33Ciliogenesis RAB11FIP4RAB11Exocyst EXOC1 33EXOC4EXOC3EXOC2EXOC7EXOC5EXOC8EXOC6recycling of endocytosed proteins63vesicle exocytosis33Legend 52


Description

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.

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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
134450view00:00, 22 July 2024EweitzRefine legend
129271view14:07, 16 March 2024EgonwAdded a missing datasource
127454view18:37, 3 October 2023Khanspersconnected one interaction and updated legend from interactions to graphical lines
127185view18:09, 9 August 2023EgonwAdded a gene ID for COPRS
126926view16:41, 6 July 2023EgonwCorrected the EC format
126889view09:34, 30 June 2023Egonw'Complex Portal' data source
126810view19:57, 22 June 2023Ninagerrekens
126641view14:18, 8 June 2023Ninagerrekens
126589view13:36, 5 June 2023Ninagerrekens
126588view13:17, 5 June 2023FehrhartOntology Term : 'disease pathway' added !
126587view13:17, 5 June 2023FehrhartOntology Term : 'neurofibromatosis 1' added !
126554view08:47, 1 June 2023Ninagerrekens
126549view14:29, 31 May 2023Ninagerrekens
126548view14:24, 31 May 2023Ninagerrekens
126547view14:18, 31 May 2023Ninagerrekens
126546view11:31, 31 May 2023Ninagerrekens
126545view11:27, 31 May 2023NinagerrekensNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
Protein
DNA damage bypass pathway PathwayWP1803 (WikiPathways)
AC003101.1GeneProductENSG00000228768 (Ensembl)
AC091177.1GeneProductENSG00000230113 (Ensembl) antisense RNA
ADAP2GeneProductENSG00000184060 (Ensembl)
  • centaurin aplha2 is a synonym for ADAP2
  • concentrated at the plasma membrane in unstilmulated cells
  • during human foetal development it was found to be expressed in the skeletal muscle, heart and brain
AK4P1GeneProductENSG00000263535 (Ensembl) pseudogene
ARF6ProteinP62330 (Uniprot-TrEMBL)
ATAD5GeneProductENSG00000176208 (Ensembl)
ATAD5ProteinQ96QE3 (Uniprot-TrEMBL)
ATRProteinQ13535 (Uniprot-TrEMBL)
ApoptosisPathwayWP254 (WikiPathways)
BCL2GeneProductENSG00000171791 (Ensembl)
CCNA2GeneProductENSG00000145386 (Ensembl)
CCNE1GeneProductENSG00000105173 (Ensembl)
CCNE2GeneProductENSG00000175305 (Ensembl)
COFILINProteinP23528 (Uniprot-TrEMBL) by phosphorylating cofilin, cofilin becomes inactive
COPRSGeneProductCOPRS (Ensembl)
CRLF3GeneProductENSG00000176390 (Ensembl)
CRY1GeneProductENSG00000008405 (Ensembl)
CTC-542B22.1GeneProductENSG00000265046 (Ensembl) LincRNA
CTC-542B22.2GeneProductENSG00000263990 (Ensembl) LincRNA
CTD-2349P21.10GeneProductENSG00000265791 (Ensembl) sense intronic
CTD-2349P21.11 GeneProductENSG00000265334 (Ensembl) antisense RNA
CTD-2349P21.1GeneProductENSG00000242439 (Ensembl) pseudogene
CTD-2349P21.9GeneProductENSG00000266490 (Ensembl) LincRNA
CTD-2370N5.3GeneProductENSG00000265118 (Ensembl)
Cell cyclePathwayWP179 (WikiPathways)
Circadian ClockPathwayWP1797 (WikiPathways)
DNMT1ProteinP26358 (Uniprot-TrEMBL)
DPRXP4GeneProductENSG00000264743 (Ensembl) pseudogene
Double stranded DNAMetabolite75909 (ChEBI)
E2F6ProteinO75461 (Uniprot-TrEMBL)
EEDProteinO75530 (Uniprot-TrEMBL)
EGF ProteinP01133 (Uniprot-TrEMBL)
EGF/EGFR signaling pathway PathwayWP437 (WikiPathways)
EGFRGeneProductENSG00000146648 (Ensembl)
EIF3AGeneProductENSG00000107581 (Ensembl)
EML4GeneProductENSG00000196132 (Ensembl)
ENA/VASPProteinQ9UI08 (Uniprot-TrEMBL)
ERK1ProteinP27361 (Uniprot-TrEMBL)
ERK2ProteinP28482 (Uniprot-TrEMBL)
EVI2AGeneProductENSG00000126860 (Ensembl)
EVI2BGeneProductENSG00000185862 (Ensembl)
EXOC1 ProteinQ9NV70 (Uniprot-TrEMBL) SEC3
EXOC2ProteinQ96KP1 (Uniprot-TrEMBL) SEC 5
EXOC3ProteinO60645 (Uniprot-TrEMBL) SEC6
EXOC4ProteinQ96A65 (Uniprot-TrEMBL) SEC8
EXOC5ProteinO00471 (Uniprot-TrEMBL)
EXOC6ProteinQ8TAG9 (Uniprot-TrEMBL) SEC15
EXOC7ProteinQ9UPT5 (Uniprot-TrEMBL) EXO70
EXOC8ProteinQ8IYI6 (Uniprot-TrEMBL)
EZH1ProteinQ92800 (Uniprot-TrEMBL)
Exocyst ComplexCPX-4943 (ChEBI)
GDP Metabolite17552 (ChEBI)
GTP Metabolite15996 (ChEBI)
GeneProductGeneProduct
HOXA1GeneProductENSG00000105991 (Ensembl)
HOXA9GeneProductENSG00000078399 (Ensembl)
Histone H3.1ProteinP68431 (Uniprot-TrEMBL)
Histone H3.2ProteinQ71DI3 (Uniprot-TrEMBL)
Histone H4ProteinP62805 (Uniprot-TrEMBL)
IFN type 1 signaling pathwayPathwayWP585 (WikiPathways)
IFN-βProteinP01574 (Uniprot-TrEMBL)
INPP5AProteinQ14642 (Uniprot-TrEMBL) protein is called inositol polyphosphate-5-phosphatase
IPS-1ProteinQ7Z434 (Uniprot-TrEMBL)
InsP3Metabolite439456 (PubChem-compound)
InsP4Metabolite107758 (PubChem-compound)
JARID2ProteinQ92833 (Uniprot-TrEMBL)
LIMK1ProteinP53667 (Uniprot-TrEMBL)
LIMKProteinP53667 (Uniprot-TrEMBL)
MAP2ProteinP50579 (Uniprot-TrEMBL)
MAPK signaling pathwayPathwayhsa04010 (KEGG Pathway)
MCL1ProteinQ07820 (Uniprot-TrEMBL)
MEK1ProteinQ13233 (Uniprot-TrEMBL)
MEK2ProteinQ9Y2U5 (Uniprot-TrEMBL)
MGAT4BGeneProductENSG00000196132 (Ensembl)
MIR193AGeneProductENSG00000207614 (Ensembl) Micro RNA
MIR365BGeneProductENSG00000199187 (Ensembl) miRNA
MIR4724GeneProductENSG00000266459 (Ensembl) Micro RNA
MIR4725GeneProductENSG00000265976 (Ensembl) miRNA
MIR4733GeneProductENSG00000265444 (Ensembl) miRNA
MYT1GeneProductENSG00000196132 (Ensembl)
MetaboliteMetabolite
NF1GeneProductENSG00000196712 (Ensembl)
NGFProteinP01138 (Uniprot-TrEMBL)
NGFRProteinP08138 (Uniprot-TrEMBL)
NOGORProteinQ9BZR6 (Uniprot-TrEMBL)
OMGGeneProductENSG00000126861 (Ensembl)
PCNAGeneProductENSG00000132646 (Ensembl)
PER1GeneProductENSG00000179094 (Ensembl)
PKAProteinEC2.7.11.11 (BRENDA)
POLRMTProteinO00411 (Uniprot-TrEMBL)
PRMT5ProteinO14744 (Uniprot-TrEMBL) 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
PSMD11GeneProductENSG00000196132 (Ensembl)
PathwayPathway
ProteinProtein
PtdInsP3Metabolite101362114 (PubChem-compound)
RAB11FIP4GeneProductENSG00000131242 (Ensembl)
RAB11ProteinP62491 (Uniprot-TrEMBL)
RAD51ProteinQ06609 (Uniprot-TrEMBL)
RAD9AGeneProductENSG00000172613 (Ensembl)
RAFProteinP04049 (Uniprot-TrEMBL) formation of heterodimer of two RAF
RAS familyProteincd04138 (InterPro) This is the inactive state of RAS so NF1 downregulates the RAS signalling pathway and can be
RAS signaling pathwayPathwayWP4223 (WikiPathways)
RBBP7ProteinQ16576 (Uniprot-TrEMBL)
RBMS1GeneProductENSG00000196132 (Ensembl)
RFC2ProteinP35250 (Uniprot-TrEMBL)
RFC3ProteinP40938 (Uniprot-TrEMBL)
RFC4ProteinP35249 (Uniprot-TrEMBL)
RFC5ProteinP40937 (Uniprot-TrEMBL)
RHOAProteinP61586 (Uniprot-TrEMBL)
RIG-IProteinO95786 (Uniprot-TrEMBL)
RN7SL138PGeneProductENSG00000266274 (Ensembl)
RN7SL45PGeneProductENSG00000264862 (Ensembl) Misc RNA
RN7SL79PGeneProductENSG00000239595 (Ensembl) Misc RNA
RNA Polymerase IIComplexR-HSA-113401 (Reactome)
RNF135GeneProductENSG00000181481 (Ensembl)
RNU6-1134PGeneProductENSG00000202026 (Ensembl) SnRNA
RNU6-298PGeneProductENSG00000212190 (Ensembl)
RNU6ATAC7PGeneProductENSG00000221038 (Ensembl) SnRNA
ROCK2ProteinO75116 (Uniprot-TrEMBL)
RP1-41C23.1GeneProductENSG00000266877 (Ensembl) LincRNA
RP11-142O6.1GeneProductENSG00000266371 (Ensembl) sense intronic
RP11-271K11.5GeneProductENSG00000265798 (Ensembl) pseudogene
RP11-805L22.1GeneProductENSG00000266448 (Ensembl) pseudogene
RP11-805L22.2 GeneProductENSG00000265863 (Ensembl) pseudogene
RP11-805L22.3GeneProductENSG00000263567 (Ensembl) LincRNA
RP11-848P1.2GeneProductENSG00000264456 (Ensembl) antisense RNA
RP11-848P1.3-001RnaENST00000579561.1 (Ensembl)
RP11-848P1.3GeneProductENSG00000265743 (Ensembl)
RP11-848P1.4GeneProductENSG00000266340 (Ensembl) antisense RNA
RP11-848P1.7GeneProductENSG00000264148 (Ensembl) pseudogene
RP11-848P1.9GeneProductENSG00000266865 (Ensembl) pseudogene
RP13-753N3.1GeneProductENSG00000263531 (Ensembl) antisene RNA
RnaRna
SOS1ProteinQ07889 (Uniprot-TrEMBL)
SPT5ProteinO00267 (Uniprot-TrEMBL)
SRD6A1GeneProductENSG00000196132 (Ensembl)
SSU ProcessomeComplexR-HSA-6790891 (Reactome)
SUZ12GeneProductENSG00000178691 (Ensembl)
SUZ12PGeneProductENSG00000264538 (Ensembl) pseudogene
SUZ12ProteinQ15022 (Uniprot-TrEMBL)
SYBL1GeneProductENSG00000196132 (Ensembl)
SYNDECAN-2ProteinP34741 (Uniprot-TrEMBL)
TEFMGeneProductENSG00000172171 (Ensembl)
TUBULIN-βProteinP07437 (Uniprot-TrEMBL)
USP1ProteinO94782 (Uniprot-TrEMBL)
UTP6GeneProductENSG00000108651
UTP6ProteinQ9NYH9 (Uniprot-TrEMBL)
WDR48ProteinQ8TAF3 (Uniprot-TrEMBL)
cAMPMetaboliteHMDB0000058 (HMDB)
focal adhesionPathwayWP306 (WikiPathways)
rRNA processingPathwayWP3797 (WikiPathways)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5366"
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