22q11.2 distal CNV (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none Regulation of glutathione metabolismUnknown functionInvolved in craciofacial developmentchr22:21,920,127Degradtion of target proteinchr22:23,653,646Folding of nascent proteinInvolved in early B-cell developmentRSPH14BCRXBP1PRAMECDC16CCDC116MDM2UBE2L3IGLL5ZNF280BARIH1MAPK1G Protein SignallingCBLPRKNUBE3ASDF2L1MAPK signaling pathwayUBA1PPIL2ATF6Clustering of LAMP1-positive LysosomesGGTLC2RILPURPS14RAB36GTPRNF19BUBA6TP53YPEL1NEDD4UPTPALRP4VPREB1SOX9GNAZTranscriptional regulation of memory B cell differentiationZNF280ARPS14YDJCSNRNP200CRNKL1SRRM2PLRG1SF3A3SNRPB2SF3A1RNF113ACWC15SF3A2AQRPPIL4PHF5ASF3B5PPIL1RBM22XAB2SNRPD2DHX16SF3B3SNRPESF3B4SNRPFEFTUD2SNRPD1SNRPBSNRPD3CWC22CDC5LBUD31PRPF8SNRNP40PPIESNRPGSNW1SF3B2PPIL2SNRPA1SF3B1Major Spliceosomal B-act-II complexCANXERP29HSPA5PDIA2PPIBCALRDNAJB11SDF2L1CABP1HYOU1PDIA4HSP90B1UGGT1RSPH3RSPH6ARSPH9DYDC1NME5DNAJB13PPIL6AK8ROPN1LRSPH14DYNLL1IQUBRadial Spoke ComplexELOCE3 ubiquitin ligase complexELOBPRAMERBX1CUL2RPS11RPS29RACK1RPS15ARPS5RPS3RPS9RPS8RPS13RPS3ARPS18RPS16RPS14RPS28RPS25RPS23RPS20RPS26RPSARPS7RPS10RPS19RPS24RPS12RPS6RPS27AFAURPS17RPS15RPS2RPS2140S cytosolic small ribosomal subunitPre-BCR ComplexCD79BIGLL1CD79AVPREB1Alter DNA and RNA topologyPAK1TOP3BTDRD3TDRD3-TOP3B type IA topoisomerase complexTOP3BPCAMK1PAK2ApoptosisPCAMK4PCHEK1PCAMK2APPM1FMAPK1PRAMECHEK1PPAK1PPAK2CAMK1CAMK2ACAMK4UYDJCPTPAName: 22q11.2 distal CNVOrganism: Homo sapiens


Description

22q11.2 CNV pathways.

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Quality Tags

Ontology Terms

 

Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
139472view03:46, 19 June 2025EgonwModified description
139447view14:52, 17 June 2025KhanspersOntology Term : 'genetic disease' added !
139446view14:51, 17 June 2025KhanspersOntology Term : 'chromosome 22q11.2 deletion syndrome, distal' added !
139402view09:49, 15 June 2025EgonwRemoved two stock comments
139401view09:47, 15 June 2025EgonwFixed a few datasources
139383view17:42, 11 June 2025Khansperschanged chromosome arrows to gaphical lines, fixed unconnected interaction
139377view12:27, 10 June 2025Chris1330testing update
139376view11:46, 10 June 2025Chris1330changed a few genes and also added the remaining genes
139354view10:17, 5 June 2025Chris1330added some genes and changed some old ones
139353view15:04, 4 June 2025Chris1330added some more genes
139348view15:30, 3 June 2025Chris1330few new genes and changed some old ones
139141view10:14, 23 May 2025Chris1330added several more genes
139054view07:44, 14 May 2025Chris1330New pathway

External references

DataNodes

View all...
Name  â†“Type  â†“Database reference  â†“Comment  â†“
40S cytosolic small ribosomal subunit
AK8GeneProductENSG00000165695 (Ensembl)
AQRGeneProductENSG00000021776 (Ensembl)
ARIH1GeneProductENSG00000166233 (Ensembl)
ATF6GeneProductENSG00000118217 (Ensembl)
ApoptosisPathwayWP5530 (WikiPathways)
BCRGeneProductENSG00000186716 (Ensembl)
BUD31GeneProductENSG00000106245 (Ensembl)
CABP1GeneProductENSG00000157782 (Ensembl)
CALRGeneProductENSG00000179218 (Ensembl)
CAMK1GeneProductENSG00000134072 (Ensembl)
CAMK2AGeneProductENSG00000070808 (Ensembl)
CAMK4GeneProductENSG00000152495 (Ensembl)
CANXGeneProductENSG00000127022 (Ensembl)
CBLGeneProductENSG00000110395 (Ensembl)
CCDC116GeneProductENSG00000161180 (Ensembl)
CD79AGeneProductENSG00000105369 (Ensembl)
CD79BGeneProductENSG00000007312 (Ensembl)
CDC16GeneProductENSG00000130177 (Ensembl)
CDC5LGeneProductENSG00000096401 (Ensembl)
CHEK1GeneProductENSG00000149554 (Ensembl)
CRNKL1GeneProductENSG00000101343 (Ensembl)
CUL2GeneProductENSG00000108094 (Ensembl)
CWC15GeneProductENSG00000150316 (Ensembl)
CWC22GeneProductENSG00000163510 (Ensembl)
Clustering of LAMP1-positive Lysosomes
DHX16GeneProductENSG00000204560 (Ensembl)
DNAJB11GeneProductENSG00000090520 (Ensembl)
DNAJB13GeneProductENSG00000187726 (Ensembl)
DYDC1GeneProductENSG00000170788 (Ensembl)
DYNLL1GeneProductENSG00000088986  (Ensembl)
E3 ubiquitin ligase complex
EFTUD2GeneProductENSG00000108883 (Ensembl)
ELOBGeneProductENSG00000103363 (Ensembl)
ELOCGeneProductENSG00000154582 (Ensembl)
ERP29GeneProductENSG00000089248 (Ensembl)
FAUGeneProductENSG00000149806 (Ensembl)
G Protein SignallingPathwayWP35 (WikiPathways)
GGTLC2GeneProductENSG00000100121 (Ensembl)
GNAZGeneProductENSG00000128266 (Ensembl)
GTPMetaboliteCHEBI:37565 (ChEBI)
HSP90B1GeneProductENSG00000166598 (Ensembl)
HSPA5GeneProductENSG00000044574 (Ensembl)
HYOU1GeneProductENSG00000149428 (Ensembl)
IGLL1GeneProductENSG00000128322 (Ensembl)
IGLL5GeneProductENSG00000254709 (Ensembl)
IQUBGeneProductENSG00000164675 (Ensembl)
LRP4GeneProductENSG00000134569 (Ensembl)
MAPK signaling pathwayPathwayWP769 (WikiPathways)
MAPK1GeneProductENSG00000100030 (Ensembl)
MDM2GeneProductENSG00000135679 (Ensembl)
Major Spliceosomal B-act-II complex
NEDD4GeneProductENSG00000069869 (Ensembl)
NME5GeneProductENSG00000112981 (Ensembl)
PAK1GeneProductENSG00000149269 (Ensembl)
PAK2GeneProductENSG00000180370 (Ensembl)
PDIA2GeneProductENSG00000185615 (Ensembl)
PDIA4GeneProductENSG00000155660 (Ensembl)
PHF5AGeneProductENSG00000100410 (Ensembl)
PLRG1GeneProductENSG00000171566 (Ensembl)
PPIBGeneProductENSG00000166794 (Ensembl)
PPIEGeneProductENSG00000084072 (Ensembl)
PPIL1GeneProductENSG00000137168 (Ensembl)
PPIL2GeneProductENSG00000100023 (Ensembl)
PPIL4GeneProductENSG00000131013 (Ensembl)
PPIL6GeneProductENSG00000185250 (Ensembl)
PPM1FGeneProductENSG00000100034 (Ensembl)
PRAMEGeneProductENSG00000185686 (Ensembl)
PRKNGeneProductENSG00000185345 (Ensembl)
PRPF8GeneProductENSG00000174231 (Ensembl)
PTPAGeneProductENSG00000119383 (Ensembl)
Pre-BCR Complex
RAB36GeneProductENSG00000100228 (Ensembl)
RACK1GeneProductENSG00000204628 (Ensembl)
RBM22GeneProductENSG00000086589 (Ensembl)
RBX1GeneProductENSG00000100387 (Ensembl)
RILPGeneProductENSG00000167705 (Ensembl)
RNF113AGeneProductENSG00000125352 (Ensembl)
RNF19BGeneProductENSG00000116514 (Ensembl)
ROPN1LGeneProductENSG00000145491 (Ensembl)
RPS10GeneProductENSG00000124614 (Ensembl)
RPS11GeneProductENSG00000142534 (Ensembl)
RPS12GeneProductENSG00000112306 (Ensembl)
RPS13GeneProductENSG00000110700 (Ensembl)
RPS14GeneProductENSG00000164587 (Ensembl)
RPS15AGeneProductENSG00000134419 (Ensembl)
RPS15GeneProductENSG00000115268 (Ensembl)
RPS16GeneProductENSG00000105193 (Ensembl)
RPS17GeneProductENSG00000182774 (Ensembl)
RPS18GeneProductENSG00000231500 (Ensembl)
RPS19GeneProductENSG00000105372 (Ensembl)
RPS20GeneProductENSG00000008988 (Ensembl)
RPS21GeneProductENSG00000171858 (Ensembl)
RPS23GeneProductENSG00000186468 (Ensembl)
RPS24GeneProductENSG00000138326 (Ensembl)
RPS25GeneProductENSG00000280831 (Ensembl)
RPS26GeneProductENSG00000197728 (Ensembl)
RPS27AGeneProductENSG00000143947 (Ensembl)
RPS28GeneProductENSG00000233927 (Ensembl)
RPS29GeneProductENSG00000213741 (Ensembl)
RPS2GeneProductENSG00000140988 (Ensembl)
RPS3AGeneProductENSG00000292158 (Ensembl)
RPS3GeneProductENSG00000149273 (Ensembl)
RPS5GeneProductENSG00000083845 (Ensembl)
RPS6GeneProductENSG00000137154 (Ensembl)
RPS7GeneProductENSG00000171863 (Ensembl)
RPS8GeneProductENSG00000142937 (Ensembl)
RPS9GeneProductENSG00000170889 (Ensembl)
RPSAGeneProductENSG00000168028 (Ensembl)
RSPH14GeneProductENSG00000100218 (Ensembl)
RSPH3GeneProductENSG00000130363 (Ensembl)
RSPH6AGeneProductENSG00000104941 (Ensembl)
RSPH9GeneProductENSG00000172426 (Ensembl)
Radial Spoke Complex
SDF2L1GeneProductENSG00000128228 (Ensembl)
SF3A1GeneProductENSG00000099995 (Ensembl)
SF3A2GeneProductENSG00000104897 (Ensembl)
SF3A3GeneProductENSG00000183431 (Ensembl)
SF3B1GeneProductENSG00000115524 (Ensembl)
SF3B2GeneProductENSG00000087365 (Ensembl)
SF3B3GeneProductENSG00000189091 (Ensembl)
SF3B4GeneProductENSG00000143368 (Ensembl)
SF3B5GeneProductENSG00000169976 (Ensembl)
SNRNP200GeneProductENSG00000144028 (Ensembl)
SNRNP40GeneProductENSG00000060688 (Ensembl)
SNRPA1GeneProductENSG00000131876 (Ensembl)
SNRPB2GeneProductENSG00000125870 (Ensembl)
SNRPBGeneProductENSG00000125835 (Ensembl)
SNRPD1GeneProductENSG00000167088 (Ensembl)
SNRPD2GeneProductENSG00000125743 (Ensembl)
SNRPD3GeneProductENSG00000100028 (Ensembl)
SNRPEGeneProductENSG00000182004 (Ensembl)
SNRPFGeneProductENSG00000139343 (Ensembl)
SNRPGGeneProductENSG00000143977 (Ensembl)
SNW1GeneProductENSG00000100603 (Ensembl)
SOX9GeneProductENSG00000125398 (Ensembl)
SRRM2GeneProductENSG00000167978 (Ensembl)
TDRD3-TOP3B type IA topoisomerase complex
TDRD3GeneProductENSG00000083544 (Ensembl)
TOP3BProteinC9JEI7 (Uniprot-TrEMBL)
TP53GeneProductENSG00000141510 (Ensembl)
Transcriptional regulation of memory B cell differentiationPathwayWP5491 (WikiPathways)
UBA1GeneProductENSG00000130985 (Ensembl)
UBA6GeneProductENSG00000033178 (Ensembl)
UBE2L3GeneProductENSG00000185651 (Ensembl)
UBE3AGeneProductENSG00000114062 (Ensembl)
UGGT1GeneProductENSG00000136731 (Ensembl)
VPREB1GeneProductENSG00000169575 (Ensembl)
XAB2GeneProductENSG00000076924 (Ensembl)
XBP1GeneProductENSG00000100219 (Ensembl)
YDJCGeneProductENSG00000161179 (Ensembl) degardation
YPEL1GeneProductENSG00000100027 (Ensembl)
ZNF280AGeneProductENSG00000169548 (Ensembl)
ZNF280BGeneProductENSG00000275004 (Ensembl)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5546"
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