10q22q23 copy number variation (Homo sapiens)

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161511, 12112123106-85113, 1442unknown functionpossibly involved inT-cell signallingspermatogenesisunknown functionchr10:88,931,651chr10:82,045,4729ROPN1LSUSD2GLUD1FAM25AMAT1AGRID1Ca2+BMPR1AL-methionineC10orf99ADIRFRSPH4ATSPAN14LDB3ATPSH2D4BH2ODYDC1K+GHITMMIR346RGRWAPALRSPH1RSPH9ADAM10OPN4SNCGMAS1LRIT2FAM35ADYDC2NFKB1NME5SH3GL3axonemal radial spoke complex 1 (RS1)RSPH14AFG3L2CDHR1RSPH6AMg2+LINC00858H+CCSER2IQUBERBB4K+LRIT1TNFSF11NRG3DNAJB13GPR15MAPK signaling pathwayMMRN2RSPH3PRXL2ADiphosphatePhosphateS-adenosyl-L-methionineDYDC1K+H+Ca2+12


Description

10q22q23 copy number variation syndrome

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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
ADAM10GeneProductENSG00000137845 (Ensembl)
ADIRFGeneProductENSG00000148671 (Ensembl)
AFG3L2GeneProductENSG00000141385 (Ensembl)
ATPMetabolite30616 (ChEBI)
BMPR1AGeneProductENSG00000107779 (Ensembl)
C10orf99GeneProductENSG00000188373 (Ensembl)
CCSER2GeneProductENSG00000107771 (Ensembl)
CDHR1GeneProductENSG00000148600 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
DNAJB13GeneProductENSG00000187726 (Ensembl)
DYDC1GeneProductENSG00000170788 (Ensembl)
DYDC2GeneProductENSG00000133665 (Ensembl)
DiphosphateMetabolite33019 (ChEBI)
ERBB4GeneProductENSG00000178568 (Ensembl)
FAM25AGeneProductENSG00000188100 (Ensembl)
FAM35AGeneProductENSG00000122376 (Ensembl)
GHITMGeneProductENSG00000165678 (Ensembl)
GLUD1GeneProductENSG00000148672 (Ensembl)
GPR15GeneProductENSG00000154165 (Ensembl)
GRID1GeneProductENSG00000182771 (Ensembl)
H+MetaboliteCHEBI:15378 (ChEBI)
H2OMetabolite15377 (ChEBI)
IQUBGeneProductENSG00000164675 (Ensembl)
K+MetaboliteCHEBI:29103 (ChEBI)
L-methionineMetabolite57844 (ChEBI)
LDB3GeneProductENSG00000122367 (Ensembl)
LINC00858GeneProductENSG00000229404 (Ensembl)
LRIT1GeneProductENSG00000148602 (Ensembl)
LRIT2GeneProductENSG00000204033 (Ensembl)
MAPK signaling pathwayPathwayWP382 (WikiPathways)
MAS1GeneProductENSG00000130368 (Ensembl)
MAT1AGeneProductENSG00000151224 (Ensembl)
MIR346GeneProductENSG00000199104 (Ensembl)
MMRN2GeneProductENSG00000173269 (Ensembl)
Mg2+MetaboliteCHEBI:18420 (ChEBI)
NFKB1GeneProductENSG00000109320 (Ensembl)
NME5GeneProductENSG00000112981 (Ensembl)
NRG3GeneProductENSG00000185737 (Ensembl)
OPN4GeneProductENSG00000122375 (Ensembl)
PRXL2AGeneProductENSG00000122378 (Ensembl) FAM213A
PhosphateMetabolite43474 (ChEBI)
RGRGeneProductENSG00000148604 (Ensembl)
ROPN1LGeneProductENSG00000145491 (Ensembl)
RSPH14GeneProductENSG00000100218 (Ensembl)
RSPH1GeneProductENSG00000160188 (Ensembl)
RSPH3GeneProductENSG00000130363 (Ensembl)
RSPH4AGeneProductENSG00000111834 (Ensembl)
RSPH6AGeneProductENSG00000104941 (Ensembl)
RSPH9GeneProductENSG00000172426 (Ensembl)
S-adenosyl-L-methionineMetabolite59789 (ChEBI)
SH2D4BGeneProductENSG00000178217 (Ensembl)
SH3GL3GeneProductENSG00000140600 (Ensembl) SH3P13
SNCGGeneProductENSG00000173267 (Ensembl)
SUSD2GeneProductENSG00000099994 (Ensembl)
TNFSF11GeneProductENSG00000120659 (Ensembl)
TSPAN14GeneProductENSG00000108219 (Ensembl)
WAPALGeneProductENSG00000062650 (Ensembl)
axonemal radial spoke complex 1 (RS1)Complex

Annotated Interactions

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