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 WillighagenActivity
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Cited In
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Disease Ontology
chromosome 15q25 deletion syndromePathway Ontology
disease pathwayLabel | 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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