17q12 copy number variation syndrome (Homo sapiens)

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chr17: 33,500,001Centromerechr17: 39,800,000Deleted Genes on 17q12 Microdeletion SyndromeMethionine metabolism leading to sulfur aminoacids and related disordersARHGAP23Ion ChannelTransport RFFLC-C motif chemokine 2Plexin domain-containing protein 1 Brain-derived neurotrophic factor (BDNF) signaling pathwayPhenylethanolamine N-methyltransferase Protein HEATR9NEUROD2Protein AF-17Voltage-dependent L-type calcium channel subunit beta-1T-complex protein 1 subunit zeta-2 MED1PGAP3RAD51D G protein signaling pathwaysG-protein betagamma signalingSLFN12CCL1C-C motif chemokine 1C-C motif chemokine 18EGFR tyrosine kinase inhibitor resistanceCDK12Mitochondrial protein importLIM and SH3 domain protein 1 Dual specificity protein phosphatase 14E3 ubiquitin-protein ligase rififylinTBC1D3GCACNB1TBC1 domain family member 3ISLFN13Interactome of polycomb repressive complex 2 (PRC2)TBC1 domain family member 3Degradation of beta-catenin by the destruction complex MRPL45RNA Polymerase II TranscriptionTBC1D3LIG3ZNF830PIGWGRB7CCL13Pre-mRNA-splicing factor CWC25 homolog CCL14Protein AATF MYO19Schlafen familymember 13C-C motif chemokine 15Zinc finger protein 830 TADA2APNMTTCAPAcetyl-CoA carboxylase 1 TBC1D3HSolute carrier family 35 member G3DNA ReplicationSynergin gammaMIEN1Schlafen family member 5NRF2 pathway STARD3PIP4K2BAcid-sensing ion channel 2HostInteractions of HIV factorsCCL7GGNBP2F-box/LRR-repeat protein 20TATA-binding protein-associated factor 2NTECUnconventional myosin-XIXPhosphatidylinositol-glycan biosynthesis class W proteinCCL4FBXL20Tyrosine-protein kinase Tec HNF1BPhosphatidylinositol 5-phosphate 4-kinase type-2 betaSLC35G3CCT6BASIC2 Elongin BC and Polycomb repressive complex 2-associated proteinTBC1D3BTBC1D3IC17orf98AP2B1C-C motif chemokine 3C-C motif chemokine 4Ras-like proteinfamily member 10BCCL3Mediator of RNA polymerase II transcription subunit 1 Cyclin-dependent kinase 12 TMEM132E-DTMLLT6TBC1 domain family member 3KMatrix metalloproteinase-28IKZF3CWC25FamilialHyperlipidemiatype 1C-C motif chemokine 14LYZL6Zinc finger protein Aiolos PathwayPutative ADP-ribosylation factor-like protein 5CCCL15Zinc finger HIT domain-containing protein 3DUSP14CCL5Polycomb group RING finger protein 2C-C motif chemokine 13Brain-derived neurotrophic factor (BDNF) signaling pathwayGamma-glutamyl cycle for the biosynthesis and degradation of glutathione, including diseasesUncharacterized protein C17orf50Costimulation by the CD28 familyHEATR9Presynaptic depolarizationand calciumchannel openingLIM/homeobox protein Lhx1 STAC2Dehydrogenase/reductase SDR family member 11TBC1 domain family member 3LSchlafen family member 11Growth factor receptor-bound protein 7 CCL8LASP1Protein SLFN14SLFN5TBC1 domain family member 3BFibronectin type III domain-containing protein 8EPOPCCL4L2ERBB260S ribosomal protein L23Peroxisomal protein import Receptortyrosine-protein kinase erbB-2ZNHIT3RAD52 motif-containing protein 1Prolactin receptor signalingAATFUncharacterized protein C17orf98TMEM132EHepatocyte nuclearfactor 1-betaTBC1 domain family member 3G Protein unc-45 homolog BPPP1R1BDNA repair protein RAD51 homolog 4p53 transcriptional gene networkGPR179C17orf78 Rho GTPase-activating protein 23ARL5CMRM1TBC1D3KTBC1D3CNotchless protein homolog 1 C-C motif chemokine 5 UNC45BGAS2-like protein 2Uncharacterized protein C17orf78 CCL16C-C motif chemokine 7Suppressor of cytokine signaling 7 LHX1Familial Hyperlipidemia type 3 Transcriptional adapter 2-alphaNLE1rRNA modification in the mitochondrion SLFN14SLFN11rRNA methyltransferase1, mitochondrial MMP28Protein phosphatase 1 regulatory subunit 1BNuclear receptorsCCL11 CCL18DHRS11PCGF2Probable G-protein coupled receptor 179ProteinRPL23DDX52C-C motif chemokine 16 SYNRGAP-2 complex subunit betaPeroxisomallipid metabolismDNA Repair PathwaysProbable ATP-dependentRNA helicase DDX52SH3 and cysteine-rich domain-containing protein 2 Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signalingTMEM132E-DTC-C motif chemokine 4-like Transmembrane protein 132EHepatocyte growth factor receptor signaling39S ribosomal protein L45, mitochondrialHepatitis B infectionRAF/MAP kinase cascadeTAF15Migration and invasion enhancer 1TBC1 domain family member 3CDNA ligase 3 Neurogenic differentiation factor 2StAR-related lipid transfer protein 3 Lysozyme-like protein 6 SRCIN1FNDC8FBXO47Post-GPI attachment to proteins factor 3 PLXDC1Ribonuclease SLFN12TBC1D3LRDM1C-C motif chemokine 3-like 1GAS2L2C-C motif chemokine 8RASL10BACACAC17orf50Protein FoldingCDGSH iron-sulfur domain-containing protein 3, mitochondrial EotaxinPEX12CCL3L1Class I peroxisomal membrane protein importMitochondrial iron-sulfur cluster biogenesis Telethonin CISD3TBC1 domain family member 3HF-box only protein 47GenePeroxisome assembly protein 12Gametogenetin-binding protein 2SRC kinase signaling inhibitor 1SOCS759141541055660, 1602315438, 81, 110, 15023113281201148839, 124238382, 967714226235815514014634, 1318013154732044, 4511927, 1411498521, 1616563, 129238510215485, 15187, 912314357, 132108422364, 139, 167119411771592367, 78, 17818481501442315, 1971160134137130122, 152174154129118TLK2P1 111101367622, 52154106, 1121006817035170862317368249185, 128, 1511452323262314554136154611271737123117, 15798, 1241522379124979095, 1382350371151661077017169, 742343231542154733330101153136, 16929, 854121231657, 1021389455459844715425, 72, 1261564015492551, 1645514814553, 11666891631271301471571384916171135154123175615450, 1252110117293461045114592, 16269621681031441672375708, 140, 1583615610923129414858, 17611CCL2133Chemokine Signaling Pathway99Chemokine Signaling Pathway99Chemokine Signaling PathwayChemokine Signaling Pathway9999Chemokine Signaling PathwayChemokine Signaling Pathway9999E3 ubiquitin ligases ubiquitinate target proteins31Protein Folding86Costimulation by the CD28 family94Protein Folding86Costimulation by the CD28 family94Protein Folding86Protein Folding86FamilialHyperlipidemiatype 1Protein Folding2886Costimulation by the CD28 family94Costimulation by the CD28 family94Protein Folding86Protein Folding86Costimulation by the CD28 family94Protein Folding86G protein signaling pathways101Protein Folding86FamilialHyperlipidemiatype 128G protein signaling pathways101Costimulation by the CD28 family94Protein Folding86Protein Folding86Protein Folding86Brain-derived neurotrophic factor (BDNF) signaling pathwayProtein Folding86Protein Folding86FamilialHyperlipidemiatype 1Protein Folding2886FamilialHyperlipidemiatype 128Protein Folding86Protein Folding86RNA Polymerase II Transcription90RAF/MAP kinase cascade142Protein Folding86Brain-derived neurotrophic factor (BDNF) signaling pathwayRAF/MAP kinase cascade142FamilialHyperlipidemiatype 128Protein Folding86


Description

17q12 copy number variaton syndrome

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