8p23.1 copy number variation syndrome (Homo sapiens)
From WikiPathways
Description
Pathway of relevant genes on the chromosome 8p23.1 duplication / deletion syndrome
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History
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
2 (2E,6E)-farnesyl diphosphate | Metabolite | ||
2 diphosphate | Metabolite | ||
2'-deoxyribonucleotide-(2'-
deoxyribose 5'-phosphate)- 2'-deoxyribonucleotide-DNA | Metabolite | ||
3'-end 2'-deoxyribonucleotide-
(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA | Metabolite | ||
4-O-(ADP-D-ribosyl)-L-aspartyl residue | Metabolite | CHEBI:138102 (ChEBI) | |
5'-end 5'-monophospho- 2'-deoxyribonucleoside-DNA | Metabolite | ||
ADP | Metabolite | ||
ANF | GeneProduct | ||
AP-1 | GeneProduct | ||
ATP | Metabolite | ||
AXIN1 | GeneProduct | ENSG00000103126 (Ensembl) | |
BLK | GeneProduct | ENSG00000136573 (Ensembl) | |
BMP | Protein | ||
BMPRE | GeneProduct | ||
BTK | GeneProduct | ENSG00000010671 (Ensembl) | |
Beta-catenin independent WNT signaling | Pathway | WP3558 (WikiPathways) | |
C8orf12 | GeneProduct | ENSG00000184608 (Ensembl) | |
C8orf49 | GeneProduct | ENSG00000255394 (Ensembl) | |
C8orf74 | GeneProduct | ENSG00000171060 (Ensembl) | |
CD79A | GeneProduct | ||
CD79B | GeneProduct | ||
CLDN23 | GeneProduct | ENSG00000253958 (Ensembl) | |
CTNNB1 | GeneProduct | ENSG00000168036 (Ensembl) | |
CTSB | GeneProduct | ENSG00000164733 (Ensembl) | |
DEFB134 | GeneProduct | ENSG00000205882 (Ensembl) | |
DEFB135 | GeneProduct | ENSG00000205883 (Ensembl) | |
DEFB136 | GeneProduct | ENSG00000205884 (Ensembl) | |
ERI1 | GeneProduct | ENSG00000104626 (Ensembl) | |
FAM167A | GeneProduct | ENSG00000154319 (Ensembl) | |
FDFT1 | GeneProduct | ENSG00000079459 (Ensembl) | |
FYN | GeneProduct | ENSG00000010810 (Ensembl) | |
GATA4 | GeneProduct | ENSG00000136574 (Ensembl) | |
H+ | Metabolite | ||
H2O | Metabolite | 15377 (ChEBI) | |
HEPACAM2 | GeneProduct | ENSG00000188175 (Ensembl) | |
HSPD1 | GeneProduct | ENSG00000144381 (Ensembl) | |
L-aspartyl | Metabolite | CHEBI:29958 (ChEBI) | |
L-methionyl-(S)-S-oxide-[protein] | Metabolite | 29950 (ChEBI) | |
L-methionyl-[protein] | Metabolite | 16044 (ChEBI) | |
L-tyrosyl-[protein] | Metabolite | ||
LYN | GeneProduct | ENSG00000254087 (Ensembl) | |
MAPK1 | GeneProduct | ENSG00000100030 (Ensembl) | |
MAPK3 | GeneProduct | ENSG00000102882 (Ensembl) | |
MCRS1 | GeneProduct | ENSG00000187778 (Ensembl) | |
MEPE | GeneProduct | ENSG00000152595 (Ensembl) | |
MFHAS1 | GeneProduct | ENSG00000147324 (Ensembl) | |
MSRA | GeneProduct | ENSG00000175806 (Ensembl) | |
MTMR6 | GeneProduct | ENSG00000139505 (Ensembl) | |
MTMR7 | GeneProduct | ENSG00000003987 (Ensembl) | |
MTMR8 | GeneProduct | ENSG00000102043 (Ensembl) | |
MTMR9 | GeneProduct | ENSG00000104643 (Ensembl) | |
Mg2+ | Metabolite | CHEBI:18420 (ChEBI) | |
NAD+ | Metabolite | CHEBI:15846 (ChEBI) | |
NADP+ | Metabolite | ||
NADPH | Metabolite | ||
NEIL2 | GeneProduct | ENSG00000154328 (Ensembl) | |
NKX6-1 | GeneProduct | ENSG00000163623 (Ensembl) | |
NUMA1 | GeneProduct | ENSG00000137497 (Ensembl) | |
O-phospho-L-tyrosyl-[protein] | Metabolite | ||
PDX1 | GeneProduct | ENSG00000139515 (Ensembl) | |
PINX1 | GeneProduct | ENSG00000258724 (Ensembl) | |
PPP1R3B | GeneProduct | ENSG00000173281 (Ensembl) | |
PRSS51 | GeneProduct | ENSG00000253649 (Ensembl) | |
PRSS55 | GeneProduct | ENSG00000184647 (Ensembl) | |
Proteasome degradation | Pathway | WP183 (WikiPathways) | |
RAF1 | GeneProduct | ENSG00000132155 (Ensembl) | |
RNA | Metabolite | CHEBI:33697 (ChEBI) | |
RP1L1 | GeneProduct | ENSG00000183638 (Ensembl) | |
SLBP | GeneProduct | ENSG00000163950 (Ensembl) | |
SLC2A4 | GeneProduct | ENSG00000181856 (Ensembl) | |
SLC35G5 | GeneProduct | ENSG00000177710 (Ensembl) | |
SOX7 | GeneProduct | ENSG00000171056 (Ensembl) | |
Sphingosine-1-phosphate | Protein | ||
Sphingosine-1-phosphate lyase | Protein | ||
Squalene | Metabolite | ||
TBX5 | GeneProduct | ENSG00000089225 (Ensembl) | |
TERF1 | GeneProduct | ENSG00000147601 (Ensembl) | |
TERT | GeneProduct | ENSG00000164362 (Ensembl) | |
TLR2 | GeneProduct | ENSG00000137462 (Ensembl) | |
TLR4 | GeneProduct | ENSG00000136869 (Ensembl) | |
TNKS | GeneProduct | ENSG00000173273 (Ensembl) | |
Talazoparib | Metabolite | 3137320 (ChEMBL compound) | |
WNT signaling | Pathway | WP428 (WikiPathways) | |
XAV939 | Metabolite | Q27132250 (Wikidata) | |
XKR6 | GeneProduct | ENSG00000171044 (Ensembl) | |
[thioredoxin]-disulfide | Metabolite | 50058 (ChEBI) | |
[thioredoxin]-dithiol | Metabolite | 44120 (ChEBI) | |
nicotinamide | Metabolite | CHEBI:17154 (ChEBI) | |
p38 MAPK signaling pathway | Pathway | WP400 (WikiPathways) |
Annotated Interactions
Source | Target | Type | Database reference | Comment |
---|---|---|---|---|
MSRA | mim-catalysis | 14217 (Rhea) | https://www.uniprot.org/uniprotkb/Q9UJ68/entry | |
mim-conversion | 14217 (Rhea) |