10q22q23 copy number variation (Homo sapiens)

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2, 5, 73131, 21202481831615301321710622, 3314, 192625292712, 1328918, 341114chr10:88,931,651spermatogenesischr10:82,045,472unknown functionunknown functionunknown functionpossibly involved inT-cell signallinglight23STAG1LRIT1RSPH3L-methionineCDHR1RSPH4APKCK+RSPH14L-glutamateRGRDNAJB1311-cis-Retinaldehydeaxonemal radial spoke complex 1 (RS1)DYDC1AFG3L2Nuclear mitotic cohesin complexRSPH1MIR346PRXL2AADAM10FAM25ACCSER2RSPH6AMAD2L2SUSD2RetinalTSPAN14PPARGH+SH2D4BNME5BMP2BUB1BC10orf99SHLD3TNFSF11ERBB4GHITMNRG3K+IQUBCa2+MAS1RAD21SIRT4PDS5BACTN2NFKB1GLUD1SMC1ACEBPAGRID1WAPALSH3GL3ROPN1LBMPR1ASMC3ATPH2OSHLD1DYDC2PDS5AMAPK signaling pathwayMg2+MAT1AWNT signalingOPN4SHLD22-oxoglutarateLRIT2GPR15VEGFAPKARSPH9MMRN2ADIRFLINC00858LDB3Shieldin complexSNCGSF3B4ZMYND11DiphosphatePhosphateS-adenosyl-L-methionineDYDC1K+H+Ca2+unknown function1darkunknown functionlikely microtubulebindingWAPAL2628unknown functionSHLD2


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

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CompareRevisionActionTimeUserComment
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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