10q22q23 copy number variation (Homo sapiens)

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1527616491714, 1918, 3482532832, 5, 720113212, 1318312430102922, 33261, 2111lightunknown functionunknown functionpossibly involved inT-cell signallingspermatogenesischr10:88,931,651chr10:82,045,472unknown function23TSPAN14SMC1ARSPH4ANuclear mitotic cohesin complexRSPH14PRXL2Aaxonemal radial spoke complex 1 (RS1)MIR346ROPN1LCCSER2RetinalNME5SHLD2MMRN2LINC00858SHLD3MAPK signaling pathwayPKCRSPH9RSPH3NRG3Shieldin complexK+ACTN2DNAJB13SIRT4SMC3NFKB1GLUD1SH3GL3SNCGH+DYDC1ADIRFSUSD2SHLD1Ca2+LRIT2LRIT1PKAOPN4TNFSF11K+L-glutamateSTAG1MAT1ALDB3CEBPAPDS5BRAD21MAD2L2BUB1BADAM10BMP2GPR15IQUBGHITMMAS1H2OL-methionineBMPR1AERBB4SH2D4BGRID1CDHR1DYDC2C10orf99ZMYND11VEGFAPPARGMg2+FAM25ASF3B4ATPRSPH6APDS5A2-oxoglutarateWAPALRGRWNT signalingRSPH1AFG3L211-cis-RetinaldehydeDiphosphatePhosphateS-adenosyl-L-methionineDYDC1K+H+Ca2+unknown function1darkunknown functionlikely microtubulebindingWAPAL26unknown function28SHLD2


Description

10q22q23 copy number variation syndrome is a rare genetic syndrome caused by a deletion or duplication in the region 10q22q23 of chromosome 10. The exact position (chr10:82,045,472-88,931,651, GRCh37) was taken from Kirov et al. 2014 and literature cited there. Patients usually suffer from developmental delay and psychiatric disorders as well as facial dyspmorphisms, and cardiac abnormalities.

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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
134532view16:37, 22 July 2024EgonwAdded missing datasources
134425view23:20, 21 July 2024EweitzRefine node alignment, standardize case
129008view18:46, 2 March 2024PklemmerRemoved line break from 'axonemal radial spoke complex 1 (RS1)' label to avoid issues in WikiPathways backend
127208view09:38, 17 August 2023Fehrhartadded new complex ID
127141view13:21, 6 August 2023FehrhartModified description
127140view13:20, 6 August 2023FehrhartModified description
127139view13:11, 6 August 2023Fehrhartprogress save
127138view12:56, 6 August 2023Fehrhartwork in progress
127127view16:11, 4 August 2023FehrhartOntology Term : 'chromosomal duplication syndrome' added !
127126view16:11, 4 August 2023FehrhartOntology Term : 'chromosomal deletion syndrome' added !
127125view16:11, 4 August 2023FehrhartOntology Term : 'disease pathway' added !
127124view16:09, 4 August 2023FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
11-cis-RetinaldehydeMetaboliteHMDB0002152 (HMDB) 11-cis-retinal
2-oxoglutarateMetabolite16810 (ChEBI)
ACTN2GeneProductENSG00000077522 (Ensembl)
ADAM10GeneProductENSG00000137845 (Ensembl)
ADIRFGeneProductENSG00000148671 (Ensembl)
AFG3L2GeneProductENSG00000141385 (Ensembl)
ATPMetabolite30616 (ChEBI)
BMP2GeneProductENSG00000125845 (Ensembl)
BMPR1AGeneProductENSG00000107779 (Ensembl) CD292
BUB1BGeneProductENSG00000156970 (Ensembl)
C10orf99GeneProductENSG00000188373 (Ensembl)
CCSER2GeneProductENSG00000107771 (Ensembl)
CDHR1GeneProductENSG00000148600 (Ensembl)
CEBPAGeneProductENSG00000245848 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
DNAJB13GeneProductENSG00000187726 (Ensembl)
DYDC1GeneProductENSG00000170788 (Ensembl)
DYDC2GeneProductENSG00000133665 (Ensembl)
DiphosphateMetabolite33019 (ChEBI)
ERBB4GeneProductENSG00000178568 (Ensembl)
FAM25AGeneProductENSG00000188100 (Ensembl)
GHITMGeneProductENSG00000165678 (Ensembl)
GLUD1GeneProductENSG00000148672 (Ensembl)
GPR15GeneProductENSG00000154165 (Ensembl)
GRID1GeneProductENSG00000182771 (Ensembl)
H+MetaboliteCHEBI:15378 (ChEBI)
H2OMetabolite15377 (ChEBI)
IQUBGeneProductENSG00000164675 (Ensembl)
K+MetaboliteCHEBI:29103 (ChEBI)
L-glutamateMetabolite29985 (ChEBI)
L-methionineMetabolite57844 (ChEBI)
LDB3GeneProductENSG00000122367 (Ensembl)
LINC00858GeneProductENSG00000229404 (Ensembl)
LRIT1GeneProductENSG00000148602 (Ensembl)
LRIT2GeneProductENSG00000204033 (Ensembl)
MAD2L2GeneProductENSG00000116670 (Ensembl)
MAPK signaling pathwayPathwayWP382 (WikiPathways)
MAS1GeneProductENSG00000130368 (Ensembl)
MAT1AGeneProductENSG00000151224 (Ensembl)
MIR346GeneProductENSG00000199104 (Ensembl)
MMRN2GeneProductENSG00000173269 (Ensembl)
Mg2+MetaboliteCHEBI:18420 (ChEBI)
NFKB1GeneProductENSG00000109320 (Ensembl)
NME5GeneProductENSG00000112981 (Ensembl)
NRG3GeneProductENSG00000185737 (Ensembl)
Nuclear mitotic cohesin complexComplexCPX-5989
OPN4GeneProductENSG00000122375 (Ensembl)
PDS5AGeneProductENSG00000121892 (Ensembl)
PDS5BGeneProductENSG00000083642 (Ensembl)
PKAGeneProduct
PKCGeneProduct
PPARGGeneProductENSG00000132170 (Ensembl)
PRXL2AGeneProductENSG00000122378 (Ensembl) FAM213A
PhosphateMetabolite43474 (ChEBI)
RAD21GeneProductENSG00000164754 (Ensembl)
RGRGeneProductENSG00000148604 (Ensembl)
ROPN1LGeneProductENSG00000145491 (Ensembl)
RSPH14GeneProductENSG00000100218 (Ensembl)
RSPH1GeneProductENSG00000160188 (Ensembl)
RSPH3GeneProductENSG00000130363 (Ensembl)
RSPH4AGeneProductENSG00000111834 (Ensembl)
RSPH6AGeneProductENSG00000104941 (Ensembl)
RSPH9GeneProductENSG00000172426 (Ensembl)
RetinalMetaboliteHMDB0001358 (HMDB) all-trans-retinal
S-adenosyl-L-methionineMetabolite59789 (ChEBI)
SF3B4GeneProductENSG00000143368 (Ensembl)
SH2D4BGeneProductENSG00000178217 (Ensembl)
SH3GL3GeneProductENSG00000140600 (Ensembl) SH3P13
SHLD1GeneProductENSG00000171984 (Ensembl)
SHLD2GeneProductENSG00000122376 (Ensembl) FAM35A
SHLD3GeneProductENSG00000253251 (Ensembl)
SIRT4GeneProductENSG00000089163 (Ensembl)
SMC1AGeneProductENSG00000072501 (Ensembl)
SMC3GeneProductENSG00000108055 (Ensembl)
SNCGGeneProductENSG00000173267 (Ensembl)
STAG1GeneProductENSG00000118007 (Ensembl)
SUSD2GeneProductENSG00000099994 (Ensembl)
Shieldin complexComplexCPX-3481
TNFSF11GeneProductENSG00000120659 (Ensembl)
TSPAN14GeneProductENSG00000108219 (Ensembl)
VEGFAGeneProductENSG00000112715 (Ensembl)
WAPALGeneProductENSG00000062650 (Ensembl)
WNT signalingPathwayWP428 (WikiPathways)
ZMYND11GeneProductENSG00000015171 (Ensembl)
axonemal radial spoke complex 1 (RS1)ComplexCPX-8163complex portal

Annotated Interactions

SourceTargetTypeDatabase referenceComment
L-glutamate2-oxoglutaratemim-conversion15133 (Rhea)
MAT1Amim-catalysis21080 (Rhea)
mim-conversion21080 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5402"
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