22q11.2 distal CNV (Homo sapiens)

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Description

This is the molecular pathway around the 22q11.2 distal copy number variation (CNV). For the more common proximal CNV, please see WP4657.

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Ontology Terms

 

Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
140338view19:28, 11 August 2025EgonwModified description
140289view07:45, 11 August 2025FehrhartModified description
140288view07:43, 11 August 2025FehrhartSmall graphical changes to make it more compact
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

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NameTypeDatabase referenceComment
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"