1q21.1 copy number variation syndrome (WP4905)

Homo sapiens

1q21.1 copy number variation (deletion or duplication) syndromes are known for a highly variable phenotype especially concerning psychiatric problems. The genes on the red DNA strand represents the deleted, or duplicated, region. The downstream effects and interaction partners of the different genes are shown according to available knowledge. The breakpoints (chr1:146,527,987-147,394,444, GRCh37/hg19) are defined as given in Kendall et al. 2017: https://doi.org/10.1016/j.biopsych.2016.08.014.


Friederike Ehrhart , Egon Willighagen , Marvin Martens , and Denise Slenter


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Homo sapiens


Rare Diseases


Disease Ontology

chromosomal disease chromosome 1q21.1 deletion syndrome major depressive disorder schizophrenia bipolar disorder chromosome 1q21.1 duplication syndrome

Pathway Ontology

inborn error of metabolism pathway congenital disease pathway


Label Type Compact URI Comment
N,N-dimethylaniline Metabolite chebi:16269
N,N-dimethylaniline N-oxide Metabolite chebi:17735
AMP Metabolite chebi:16027
ADP Metabolite chebi:16761
DNA Metabolite chebi:16991
1-(9Z-octadecenoyl)-sn-glycero-3-phosphate Metabolite chebi:62837
an alcohol Metabolite chebi:30879
Phosphate Metabolite hmdb:HMDB0001429
1-(9Z-octadecenoyl)-sn-glycerol Metabolite chebi:75757
phosphate monoesters Metabolite chebi:7794
Phosphate Metabolite hmdb:HMDB0001429
OCLN GeneProduct ensembl:ENSG00000197822
GJA1 GeneProduct ensembl:ENSG00000152661
TJP1 GeneProduct ensembl:ENSG00000104067
GJA3 GeneProduct ensembl:ENSG00000121743
F11R GeneProduct ensembl:ENSG00000158769 CD321
KIRREL1 GeneProduct ensembl:ENSG00000183853
AFDN GeneProduct ensembl:ENSG00000130396
TJP3 GeneProduct ensembl:ENSG00000105289
TJP2 GeneProduct ensembl:ENSG00000119139
PFN1P8 GeneProduct ensembl:ENSG00000244371 pseudo gene
NBPF13P GeneProduct ensembl:ENSG00000227242 pseudo gene
RNU1-151P GeneProduct ensembl:ENSG00000201142 pseudo gene
PRKAG1 GeneProduct ensembl:ENSG00000181929
PRKAA1 GeneProduct ensembl:ENSG00000132356
PRKAA2 GeneProduct ensembl:ENSG00000162409
PDIA3P1 GeneProduct ensembl:ENSG00000180867 pseudo gene
CCT8P1 GeneProduct ensembl:ENSG00000226015 pseudo gene
PRKAG2 GeneProduct ensembl:ENSG00000106617
PRKAB2 GeneProduct ensembl:ENSG00000131791 regulatory subunit
FMO5 GeneProduct ensembl:ENSG00000131781
RPL7AP15 GeneProduct ensembl:ENSG00000236806 pseudo gene
PRKAG3 GeneProduct ensembl:ENSG00000115592
PRKAB1 GeneProduct ensembl:ENSG00000111725
NBPF12 GeneProduct ensembl:ENSG00000268043
PRKAB2 GeneProduct ensembl:ENSG00000131791 regulatory subunit
CHD1L GeneProduct ensembl:ENSG00000131778
GJA8 GeneProduct ensembl:ENSG00000121634 connexin 50
OR13Z3P GeneProduct ensembl:ENSG00000272480 pseudo gene
AMELX GeneProduct ensembl:ENSG00000125363
GJA5 GeneProduct ensembl:ENSG00000265107 connexin 40 (Cx40)
ACP6 GeneProduct ensembl:ENSG00000162836
RN7SL261P GeneProduct ensembl:ENSG00000277762 pseudo gene
CTNNB1 GeneProduct ensembl:ENSG00000168036
OR13Z2P GeneProduct ensembl:ENSG00000272443 pseudo gene
PYGO1 GeneProduct ensembl:ENSG00000171016
OR13Z1P GeneProduct ensembl:ENSG00000226653 pseudo gene
BCL9 GeneProduct ensembl:ENSG00000116128
BCL9 GeneProduct ensembl:ENSG00000116128
PYGO2 GeneProduct ensembl:ENSG00000163348
PYGO1 GeneProduct ensembl:ENSG00000171016
BCL9 GeneProduct ensembl:ENSG00000116128
PYGO2 GeneProduct ensembl:ENSG00000163348


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