15q25 copy number variation (WP5408)

Homo sapiens

15q25.2 or generally 15q25 copy number variations are rare genetic disorders that cause neuropsychiatric disorders, developmental delay and cardiac abnormalities. The exact chromosomal position for this pathway (chr15:83219735-85722039, GRCh37) was taken from Kirov et al. 2014 10.1016/j.biopsych.2013.07.022 and literature cited there.

Authors

Friederike Ehrhart , Alex Pico , Pierre Klemmer , Eric Weitz , and Egon Willighagen

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

chromosome 15q25 deletion syndrome

Pathway Ontology

disease pathway

Participants

Label Type Compact URI Comment
Adenosine Metabolite chebi:16335
Thymidine Metabolite chebi:17748
L-threonine residue Metabolite chebi:30013
O-phospho-L-serine residue Metabolite chebi:83421
Cytidine Metabolite chebi:17562
Uridine Metabolite chebi:16704
ADP Metabolite chebi:456216
cAMP Metabolite chebi:58165
AMP Metabolite chebi:456215
ATP Metabolite chebi:30616
O-phospho-L-threonine residue Metabolite chebi:61977
L-serine residue Metabolite chebi:29999
MIR4515 GeneProduct ensembl:ENSG00000263643
AP3B2 GeneProduct uniprot:Q13367
AP3D1 GeneProduct uniprot:O14617
AP3M2 GeneProduct uniprot:P53677
AP3S1 GeneProduct uniprot:Q92572
GRM1 GeneProduct ensembl:ENSG00000152822
RYR2 GeneProduct ensembl:ENSG00000198626
DNM3 GeneProduct ensembl:ENSG00000197959
PDE8A GeneProduct ensembl:ENSG00000073417
RAMAC GeneProduct ensembl:ENSG00000169612 FAM103A1
GOLGA6L4 GeneProduct ensembl:ENSG00000184206
SH3GL3 GeneProduct ensembl:ENSG00000140600
ADAMTSL3 GeneProduct ensembl:ENSG00000156218
RAF1 GeneProduct ensembl:ENSG00000132155
C15orf40 GeneProduct ensembl:ENSG00000169609
NMB GeneProduct ensembl:ENSG00000197696
EGF GeneProduct ensembl:ENSG00000138798
HOMER2 GeneProduct ensembl:ENSG00000103942
SEC11A GeneProduct ensembl:ENSG00000140612
FSD2 GeneProduct ensembl:ENSG00000186628
RYR1 GeneProduct ensembl:ENSG00000196218
WDR73 GeneProduct ensembl:ENSG00000177082
BTBD1 GeneProduct ensembl:ENSG00000064726
SHANK1 GeneProduct ensembl:ENSG00000161681
SYNJ1 GeneProduct ensembl:ENSG00000159082
SPCS3 GeneProduct ensembl:ENSG00000129128
SLC2A1 GeneProduct ensembl:ENSG00000117394 GLUT1
WHAMM GeneProduct ensembl:ENSG00000156232
BNC1 GeneProduct ensembl:ENSG00000169594
CPEB1 GeneProduct ensembl:ENSG00000214575
AP3B2 GeneProduct ensembl:ENSG00000103723
SPCS1 GeneProduct ensembl:ENSG00000114902
NMBR GeneProduct ensembl:ENSG00000135577
AGAP2 GeneProduct ensembl:ENSG00000135439
TOP1 GeneProduct ensembl:ENSG00000198900
ALPK3 GeneProduct ensembl:ENSG00000136383
ITPR1 GeneProduct ensembl:ENSG00000150995
RNMT GeneProduct ensembl:ENSG00000101654
GRM5 GeneProduct ensembl:ENSG00000168959
UBE2Q2L GeneProduct ensembl:ENSG00000259511
SLC28A1 GeneProduct ensembl:ENSG00000156222
HTT GeneProduct ensembl:ENSG00000197386
SPCS2 GeneProduct ensembl:ENSG00000118363
TM6SF1 GeneProduct ensembl:ENSG00000136404
SHANK3 GeneProduct ensembl:ENSG00000251322
ZSCAN2 GeneProduct ensembl:ENSG00000176371
ZNF592 GeneProduct ensembl:ENSG00000166716
TENT4B GeneProduct ensembl:ENSG00000121274 GLD4

References

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  20. Structure of the human signal peptidase complex reveals the determinants for signal peptide cleavage. Liaci AM, Steigenberger B, Telles de Souza PC, Tamara S, Gröllers-Mulderij M, Ogrissek P, et al. Mol Cell. 2021 Oct 7;81(19):3934-3948.e11. PubMed Europe PMC Scholia