NF1 copy number variation syndrome (Homo sapiens)

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28, 40, 503961196445475654, 555061, 5651, 63379243, 6229, 53266535, 52723501766455454, 55157627, 3664354, 27, 44163514, 4121478, 6018, 349, 13311717514510532311, 38186507, 2517, 4528, 46318, 3429, 535718, 341049, 66337583154712306017422829, 533155929, 5343, 446420, 225048, 5724, 32472316664, 27917, 45Data node for a RNA gene DNA-damage inducedapoptosis granulocyte differentiation and functionality of hematopoietic progenitor cellsInvolved in the regulation of dendritic spine development, contributing to the regulation of dendritic branching and filopodia extension restriction of excitatory synaps formation in the hippocampusRibosome formationand cell growthchange behavior ofAML cellsCiliogenesis calcium influx dendritic filopodia formation and contributing to spinogenesis(hippocampal nerves)cell cycle progressionG1/S phasesecond messengers in cell growth, survival and movementtranscription of mtDNA into RNA axon growth andregenerationfunction unknownChr17:29,100,000cell proliferation, survival, growth and differentiationprogressioncell cyclemicrotubules stabillityactin stabilizationrestart of stalled replication forks recycling of endocytosed proteinsreplication primer formation in mtDNAfunction unknown USP1RAB11ATAD5EVI2BCCNE1Circadian Clock DNA damage bypass pathway CRY1LIMKADAP2RFC2EVI2AATRRAD51ApoptosisARF6rRNA processingTEFMcAMPHistone H4MetaboliteINPP5ARAFRnaRNA Polymerase IINOGORRP11-848P1.3-001E2F6IPS-1RIG-ISUZ12RAS signaling pathwayHOXA9PtdInsP3MEK1NGFRInsP4BCL2Exocyst CRLF3NF1MAP2EGF/EGFR signaling pathway EGF COFILINOMGSUZ12PSYNDECAN-2RAD9ASOS1COPRSGeneProductSPT5TUBULIN-βROCK2methyl groupMAPK signaling pathwayATAD5EZH1RAB11FIP4MCL1DNMT1RFC3SEC15PathwayIFN-βEGFRfocal adhesionPRMT5ENA/VASPCTD-2370N5.3RHOAWDR48PCNARNF135POLRMTCell cycleInsP3IFN type 1 signaling pathwayProteinUTP6SSU ProcessomeGeneProductRFC5P57RFC4RAD51PPCNAUb6041, 57RIG-I57UbRAS familyRAS family7MEK2MEK1MEK2PP7, 367ERK1ERK2PERK2PERK17, 257, 257, 257, 257, 25PKAENA/VASPPLIMK1PCOFILINPADAP257RAFRAFCTD-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 proliferationRP11-142O6.1NGFAK4P163vesicle exocytosis63RN7SL79PRN7SL45PMIR4724MIR193A66RNU6ATAC7PAC003101.1MIR4725MIR365BRP1-41C23.1RP11-805L22.1RNU6-1134PRP11-805L22.2 RP11-805L22.3CTC-542B22.1SPT5CCNE265EGFR61methyl groupSOS1PER1CTC-542B22.2SUZ12JARID2EEDRBBP7UTP6Histone H3.1Histone H3.2methyl groupHistone 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 pathway


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
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
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)
EZH1ProteinQ92800 (Uniprot-TrEMBL)
Exocyst ComplexR-HSA-264974 (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 (Ensembl)
PSMD11GeneProductENSG00000196132 (Ensembl)
PathwayPathway
ProteinProtein
PtdInsP3Metabolite101362114 (PubChem-compound)
RAB11FIP4GeneProductENSG00000131242 (Ensembl)
RAB11ProteinP62491 (Uniprot-SwissProt)
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
SEC15ProteinQ9Y2D4 (Uniprot-TrEMBL)
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)
methyl groupMetabolite32875 (ChEBI)
rRNA processingPathwayWP3797 (WikiPathways)

Annotated Interactions

No annotated interactions

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