22q11.2 copy number variation syndrome (Homo sapiens)

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8117492217338543, 8089622011, 1929604537326113473, 48, 56, 86617659, 9431, 46136674452859, 6827cell division cycle regulatory proteincytoskeleton organizationneurotransmitter releaseLCR22D21,500,000Amino acid transporter activity questionedSchizophrenia risk geneunknown functionpossible candidate forretinitis pigmentosaunknownfunctionneurite outgrowthcandidate gene foroculo-auriculo-vertebral spectrum (OAVS) asymmetryLegendincreased expressionin gastric and othercancersunknown functionubiquitin carboxyl-terminal hydrolase activityunclear functionpossibly involved in mitochondria functionneurodevelopmentTranslocationchr22:21,465,672unknown functionno informationavailable, yetExocytosisexact function unknownUbiquitinated protein528704473RBX1TMEM191ACUL3BCR(KLHL22) E3 ubiquitin ligase complexXPO1LINC00895SREBF1SyntaxinRELNRNU6-225PMALT1CLDN3SEPTIN8Cell junction organizationMitochondrial translationNCOR1TSSK1ASLC9A3P21-phosphatidyl-1D-myo-inositol(1−)KRT18P5POM121L4PPRKNRCC1PAK4DGCR9RTN4Complement and Coagulation CascadesLINC01637POLR2ANPRL3SEPTIN11C22orf39GATOR1 complexIGLL4PCDH15argininetRNA modification in the nucleus and cytosollysinecellular proliferation1-phosphatidyl-1D-myo-inositol 4-phosphate(3−)Dermatan sulfateKRT18P62Activation of gene expressionby SREBF (SREBP)Tight junctionornithineADP(3−)POM121L7PDEPDC5TP53ABHD17AP4DGCR10SMPD4P1RANGAP1TUBA3FPRN7SL168PSNORA77B39S mitochondrial large ribosomal subunitReelin signalling pathwayP2RX6PFAM230EApoptosismRNA ProcessingHDAC3HeparinRN7SL812PRANARNTLBCRP5CA15P1TUBA3GPNPRL2TNPO1DGCR11BCL2ATP(4−)CCDC74BP1p75 NTR receptor-mediated signallingPLK1SREBF2ATPHIST1H4AMAGCLDN1RORCRNY1P9G Protein SignalingpathwaysBCRP2nuclear transportFAM230GPurinergic signalingLINC013115193786238412Gene ProductMetabolitemiRnareward-mediating mesocorticolimbicpathwaysMIM-stimulation of an enzyme or a gene leading to its activation or expressionData node for a micro RNA or another RNA geneData node for a pathwayMIM-inhibition of a compound's function or a processMIM-catalysis of a compound by an enzymePathwayComplexMIM-gap of knowledge on the exact nature of the interactionMIM-transcription-translation of a geneData node for a metaboliteDashed line indicates unclear mechanismof interaction/unclear intermediatesData node for a gene or its productMIM-conversion of a compound to anotherMIM-binding of a compound to anotherSynaptic transmissionat thalamocortical glutamatergic projectionshsa-miR-9-5pInsulin SignallingVWFDopamine metabolismBlood Clotting CascadeHeart developmentGP1BBGP1BANeurotransmitter clearanceDRD2GP5LINC00037GP9Translocation of SLC2A4 to the plasma membrane 7261514551145042249191671840958769905740679054, 7221, 722, 67, 9295959569PPCentromeredegradation of ubiquitinfusion proteinsnucleosome assemblyduring sperm nucleus decondensationApoptosisthrough caspase activationNeurite outgrowthin neural precursorcellsmitochondrial redoxhomeostasis MitochondrionDNA unwinding during replication elongation cell cycle-dependenthistone genetranscriptionMesenchymevesicle fusion at the endoplasmic reticulum or Golgi membranesAsymmetric remodelling of PAASecond heart fieldAxonal Growth(Premature) differentiation of SHF cellsNeuronal inhibitionIncreased RA signallingintracellular signalingSERPIND1GLUD1CCDC188hsa-mir-4761ARVCFRAF1MED15ALDH4A1KLHL22LZTR1UFD12-oxoglutaric acidTHAP7SLC7A4DGCR6LcitrateL-Glutamic gamma-semialdehydeLRRC74BOATTSSK2RAF1hsa-mir-1286HIRIP3prolineHAND2SHOC2RTN4RCDC45SLC2A4SEPTIN5RAS/MAPK signal transductionTANGO2DGCR2hsa-miR-3618LINC00896Urea cycleGSC277CLDN5GNB1LOrnithineAIFM3TXNRD2RANBP1glutamineRTL10ZNF74PPP1CBP2RX6ESS2glutamateCBX5TCA cycleTRMT2API4KAASF1AMRPL40hsa-mir-681634USP41riluzoleCLTCL1HIRAhsa-mir-1306PAX3TSKShsa-mir-649FGF10SLC25A153CRKL1-pyrroline-5-carboxylateSCARF2retinalEMC10NormetanephrineHomovanillic acidRetinoic acidSRFDROSHAFOXA2hsa-miR-194-1PRODHFGF8CYP26B14-oxo-Retinoic acidCOMTCHRDFOXC1CRKLSHHNorepinephrineCYP26A1DopaminePITX2ZDHHC8FGF8FGFR2DGCR8DL-MetanephrineEpinephrineTBX1hsa-miR-185CYP26C1FOXC2Retinoic acidFGFR14-hydroxyretinoic acidhsa-miR-363NKX2-5hsa-miR-150ALDH1A2DOPAC3-MethoxytyramineSNAP29FGFR2FGFR1CDC427571DGCR8hsa-miR-18558EctodermcNCC patterningNeurogenesis and neural differentiationHES1HES1GBX2Notch signalling(Premature) muscular differentiation 64GP1BB4158RAF1PcitrateTCA cycleGP1b-IX-V activation signalling6ACTA26ACTC1DopamineFOXA2FOXC1FOXC2TBX1DGCR595EGFRchr22:18,912,231TSKSBCRP730Data node for a pseudo gene33, 63RORCcircadian expressioncycle27SEPTIN515, 35USEPTIN5U65, 79RANBP1KPNB125POLR2APhosphorylated proteinKLHL22PLK1UDEPDC5DEPDC5UP2RX674Uornithineargininelysine60604747LCR22C21,000,000LCR22B20,500,000LCR22A<19,000,000454536


The 22q11.2 deletion syndrome can result in the loss of up to 46 protein-coding genes, which have wide-spread effects on human development. The loss of TBX1 is thought to be responsible for a large proportion of the 22q11.2DS phenotype, due its role in the development of the heart, thymus, thyroid, parathyroids and more.

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120007view13:13, 11 October 2021FehrhartReverted to version '11:20, 17 September 2021' by Fehrhart
120003view15:30, 9 October 2021MlatorreModified title
119921view11:20, 17 September 2021FehrhartUpdate HIST1H4A for H4C1
116172view14:56, 15 April 2021Fehrhartadded literature reference
115785view07:45, 12 March 2021Fehrhartgraphical update
115783view16:08, 11 March 2021Fehrhartupdate in progress
115782view15:48, 11 March 2021Fehrhartupdate in progress
115781view15:46, 11 March 2021Fehrhartupdated to GRCH37
113893view11:05, 7 December 2020Fehrhartcorrected a typo
113890view18:26, 6 December 2020EgonwAdded the missing Complex Portal data source
113889view18:23, 6 December 2020EgonwUpdated the HMDB identifiers.
113876view15:55, 3 December 2020Fehrhartadded breakpoints LCR22A-D
113874view11:33, 3 December 2020Fehrhartmajor update done
113873view10:57, 3 December 2020Fehrhartupdate in progress
113872view10:48, 3 December 2020Fehrhartupdate in progress
113840view16:41, 30 November 2020Fehrhartupdate in progress
113839view16:31, 30 November 2020Fehrhartupdate in progress
113816view15:39, 27 November 2020Fehrhartupdate in progress
113815view15:10, 27 November 2020Fehrhartupdate in progress
113653view20:50, 9 November 2020FehrhartUpdate in progress
113640view15:06, 9 November 2020Fehrhartupdate in progress
113597view10:08, 4 November 2020Fehrhartupdate
113591view08:17, 4 November 2020Fehrhartupdate
113590view08:01, 4 November 2020Fehrhartupdate
113589view14:24, 3 November 2020Fehrhartupdate legend
113588view13:55, 3 November 2020FehrhartUpdate
112047view14:35, 17 September 2020FehrhartModified title
111568view12:43, 25 August 2020Fehrhartupdate in progress
111567view11:56, 25 August 2020Fehrhartupdate in progress
111564view11:16, 25 August 2020Fehrhartupdate in progress
111262view16:20, 27 July 2020FehrhartUndergoing reconstruction and completion of deleted gene list
109347view12:55, 16 March 2020L DupuisConnected unconnected line
109316view10:45, 11 March 2020FehrhartAdded DGCR5 path, aligned genes with red line.
107179view14:26, 17 September 2019MaintBotChEBI identifier normalization
106807view13:28, 17 September 2019MaintBotHMDB identifier normalization
105133view06:22, 10 July 2019Fehrhartfixed unconnected lines and SHH part of pathway
105073view17:20, 4 July 2019Victoravrfixed interactions
105072view12:57, 4 July 2019VictoravrAdded CLTC1 pathways
105049view21:44, 2 July 2019Victoravr2 added pathways for COMT
105048view20:54, 2 July 2019VictoravrAdded legend and fixed interactions
105027view16:42, 30 June 2019VictoravrDGCR8 mediated DRD2 upregulation added
105025view10:40, 29 June 2019EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
104987view21:55, 27 June 2019Victoravradded pathway
104984view19:56, 27 June 2019VictoravrAdded downstream genes
104957view12:03, 27 June 2019VictoravrGP1BB downstream added
104955view10:21, 27 June 2019VictoravrAdding of gene functional descriptions
104952view07:25, 27 June 2019Fehrhartwork in progress
104941view11:53, 26 June 2019VictoravrOntology Term : 'neurological disorder pathway' added !
104940view11:50, 26 June 2019VictoravrOntology Term : 'disease pathway' added !
104939view11:50, 26 June 2019VictoravrOntology Term : 'velocardiofacial syndrome' added !

External references


View all...
NameTypeDatabase referenceComment
1-phosphatidyl-1D-myo-inositol 4-phosphate(3−)MetaboliteCHEBI:58178 (ChEBI)
1-phosphatidyl-1D-myo-inositol(1−)MetaboliteCHEBI:57880 (ChEBI)
1-pyrroline-5-carboxylateMetaboliteCHEBI:15893 (ChEBI)
2-oxoglutaric acidMetaboliteCHEBI:30915 (ChEBI)
3-MethoxytyramineMetaboliteCHEBI:1582 (ChEBI)
39S mitochondrial large ribosomal subunitComplexCPX-5226 (Complex Portal)
4-hydroxyretinoic acidMetaboliteCHEBI:63795 (ChEBI)
4-oxo-Retinoic acidMetaboliteHMDB0006285 (HMDB)
ABHD17AP4 GeneProductENSG00000229107 (Ensembl)
ACTA2GeneProductENSG00000107796 (Ensembl)
ACTC1GeneProductENSG00000159251 (Ensembl)
ADP(3−)MetaboliteCHEBI:456216 (ChEBI)
AIFM3GeneProductENSG00000183773 (Ensembl)
ALDH1A2GeneProductENSG00000128918 (Ensembl)
ALDH4A1GeneProductENSG00000159423 (Ensembl)
ARNTLGeneProductENSG00000133794 (Ensembl)
ARVCFGeneProductENSG00000099889 (Ensembl)
ASF1AGeneProductENSG00000111875 (Ensembl)
ATP(4−)MetaboliteCHEBI:30616 (ChEBI)
ATPMetabolite15422 (ChEBI)
Activation of gene expression by SREBF (SREBP)PathwayWP2706 (WikiPathways)
ApoptosisPathwayWP254 (WikiPathways)
BCL2GeneProductENSG00000171791 (Ensembl)
BCR(KLHL22) E3 ubiquitin ligase complexComplex
BCRP2GeneProductENSG00000169668 (Ensembl)
BCRP5GeneProductENSG00000235062 (Ensembl)
BCRP7GeneProductENSG00000215544 (Ensembl)
Blood Clotting CascadePathwayWP272 (WikiPathways)
C22orf39 GeneProductENSG00000242259 (Ensembl)
CA15P1GeneProductENSG00000241527 (Ensembl)
CBX5GeneProductENSG00000094916 (Ensembl)
CCDC188GeneProductENSG00000234409 (Ensembl)
CCDC74BP1 GeneProductENSG00000250261 (Ensembl)
CDC42GeneProductENSG00000070831 (Ensembl) ONLY isoform 2, which is brain-specific; CDC42PALM
CDC45GeneProductENSG00000093009 (Ensembl)
CDH15GeneProductENSG00000129910 (Ensembl)
CHRDGeneProductENSG00000090539 (Ensembl)
CLDN1GeneProductENSG00000163347 (Ensembl)
CLDN3GeneProductENSG00000165215 (Ensembl)
CLDN5GeneProductENSG00000184113 (Ensembl)
CLTCL1GeneProductENSG00000070371 (Ensembl)
COMTGeneProductENSG00000093010 (Ensembl)
CRKLGeneProductENSG00000099942 (Ensembl)
CUL3GeneProductENSG00000036257 (Ensembl)
CYP26A1GeneProductENSG00000095596 (Ensembl)
CYP26B1GeneProductENSG00000003137 (Ensembl)
CYP26C1GeneProductENSG00000187553 (Ensembl)
Cell junction organizationPathwayWP1793 (WikiPathways)
Complement and Coagulation CascadesPathwayWP558 (WikiPathways)
DEPDC5GeneProductENSG00000100150 (Ensembl)
DGCR10GeneProductENSG00000273164 (Ensembl)
DGCR11GeneProductENSG00000273311 (Ensembl)
DGCR2GeneProductENSG00000070413 (Ensembl)
DGCR5GeneProductENSG00000237517 (Ensembl)
DGCR6LGeneProductENSG00000128185 (Ensembl)
DGCR8GeneProductENSG00000128191 (Ensembl)
DGCR9GeneProductENSG00000273032 (Ensembl)
DL-MetanephrineMetaboliteCHEBI:89633 (ChEBI)
DOPACMetaboliteCHEBI:41941 (ChEBI)
DRD2GeneProductENSG00000149295 (Ensembl)
DROSHAGeneProductENSG00000113360 (Ensembl)
Dermatan sulfateMetaboliteCHEMBL1909290 (ChEMBL compound)
Dopamine metabolismPathwayWP2436 (WikiPathways)
DopamineMetaboliteCHEBI:18243 (ChEBI)
EGFRGeneProductENSG00000146648 (Ensembl)
EMC10GeneProductENSG00000161671 (Ensembl)
ESS2GeneProductENSG00000100056 (Ensembl) DGCR14
EpinephrineMetaboliteCHEBI:33568 (ChEBI)
FAM230EGeneProductENSG00000182824 (Ensembl)
FAM230G GeneProductENSG00000188280 (Ensembl)
FGF10GeneProductENSG00000070193 (Ensembl)
FGF8GeneProductENSG00000107831 (Ensembl)
FGFR1GeneProductENSG00000077782 (Ensembl)
FGFR2GeneProductENSG00000066468 (Ensembl)
FOXA2GeneProductENSG00000125798 (Ensembl)
FOXC1GeneProductENSG00000054598 (Ensembl)
FOXC2GeneProductENSG00000176692 (Ensembl)
G Protein Signaling pathwaysPathwayWP35 (WikiPathways)
GATOR1 complexComplexCPX-6226 (Complex Portal)
GBX2GeneProductENSG00000168505 (Ensembl)
GLUD1GeneProductENSG00000148672 (Ensembl)
GNB1LGeneProductENSG00000185838 (Ensembl)
GP1BAGeneProductENSG00000185245 (Ensembl)
GP1BBGeneProductENSG00000203618 (Ensembl)
  • Involved in Macrothrombocytopenia development
  • Responsible for Bernard-Soulier syndrome
GP1b-IX-V activation signallingPathwayWP1823 (WikiPathways)
GP5GeneProductENSG00000178732 (Ensembl)
GP9GeneProductENSG00000169704 (Ensembl)
GSC2GeneProductENSG00000063515 (Ensembl) DNA sequence-specific recognition of sites bound by the Drosophila anterior morphogen, Bicoid
HAND2GeneProductENSG00000164107 (Ensembl)