17q12 copy number variation syndrome (WP5287)
Homo sapiens
17q12 copy number variation syndrome
Authors
JulietaCosta , Egon Willighagen , Friederike Ehrhart , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Diseases Rare DiseasesAnnotations
Disease Ontology
chromosome 17q12 duplication syndrome chromosome 17q12 deletion syndromePathway Ontology
disease pathwayLabel | Type | Compact URI | Comment |
---|---|---|---|
CCL5 | GeneProduct | ensembl:ENSG00000271503 | |
TBC1D3H | GeneProduct | ensembl:ENSG00000274226 | |
SOCS7 | GeneProduct | ensembl:ENSG00000274211 | |
TAF15 | GeneProduct | ensembl:ENSG00000270647 | |
CCL4 | GeneProduct | ensembl:ENSG00000275302 | |
C17orf78 | GeneProduct | ensembl:ENSG00000278505 | |
GGNBP2 | GeneProduct | ensembl:ENSG00000278311 | |
STARD3 | GeneProduct | ensembl:ENSG00000131748 | |
MYO19 | GeneProduct | ensembl:ENSG00000278259 | |
GAS2L2 | GeneProduct | ensembl:ENSG00000270765 | |
LIG3 | GeneProduct | ensembl:ENSG00000005156 | |
ACACA | GeneProduct | ensembl:ENSG00000278540 | |
TBC1D3C | GeneProduct | ensembl:ENSG00000278299 | |
HNF1B | GeneProduct | ensembl:ENSG00000275410 | |
CACNB1 | GeneProduct | ensembl:ENSG00000067191 | |
RFFL | GeneProduct | ensembl:ENSG00000092871 | |
PIP4K2B | GeneProduct | ensembl:ENSG00000276293 | |
MIEN1 | GeneProduct | ensembl:ENSG00000141741 | |
TEC | GeneProduct | ensembl:ENSG00000279119 | This gene does not contain any transcripts |
NLE1 | GeneProduct | ensembl:ENSG00000073536 | |
PIGW | GeneProduct | ensembl:ENSG00000277161 | |
CCL18 | GeneProduct | ensembl:ENSG00000275385 | |
DDX52 | GeneProduct | ensembl:ENSG00000278053 | |
DHRS11 | GeneProduct | ensembl:ENSG00000278535 | |
PGAP3 | GeneProduct | ensembl:ENSG00000161395 | |
IKZF3 | GeneProduct | ensembl:ENSG00000161405 | |
MMP28 | GeneProduct | ensembl:ENSG00000271447 | |
LASP1 | GeneProduct | ensembl:ENSG00000002834 | |
ARL5C | GeneProduct | ensembl:ENSG00000141748 | |
MRPL45 | GeneProduct | ensembl:ENSG00000278845 | |
GPR179 | GeneProduct | ensembl:ENSG00000277399 | |
SLFN11 | GeneProduct | ensembl:ENSG00000172716 | |
EPOP | GeneProduct | ensembl:ENSG00000273604 | |
ARHGAP23 | GeneProduct | ensembl:ENSG00000275832 | |
SLC35G3 | GeneProduct | ensembl:ENSG00000164729 | |
SLFN14 | GeneProduct | ensembl:ENSG00000236320 | |
CISD3 | GeneProduct | ensembl:ENSG00000277972 | |
SLFN12 | GeneProduct | ensembl:ENSG00000172123 | |
MED1 | GeneProduct | ensembl:ENSG00000125686 | |
UNC45B | GeneProduct | ensembl:ENSG00000141161 | |
CCL11 | GeneProduct | ensembl:ENSG00000172156 | |
CCT6B | GeneProduct | ensembl:ENSG00000132141 | |
GRB7 | GeneProduct | ensembl:ENSG00000141738 | |
AP2B1 | GeneProduct | ensembl:ENSG00000006125 | |
RASL10B | GeneProduct | ensembl:ENSG00000270885 | |
CDK12 | GeneProduct | ensembl:ENSG00000167258 | |
PLXDC1 | GeneProduct | ensembl:ENSG00000161381 | |
HEATR9 | GeneProduct | ensembl:ENSG00000270379 | |
CCL7 | GeneProduct | ensembl:ENSG00000108688 | |
STAC2 | GeneProduct | ensembl:ENSG00000141750 | |
TCAP | GeneProduct | ensembl:ENSG00000173991 | |
C17orf50 | GeneProduct | ensembl:ENSG00000270806 | |
NEUROD2 | GeneProduct | ensembl:ENSG00000171532 | |
CCL1 | GeneProduct | ensembl:ENSG00000108702 | |
RDM1 | GeneProduct | ensembl:ENSG00000278023 | |
PCGF2 | GeneProduct | ensembl:ENSG00000277258 | |
PNMT | GeneProduct | ensembl:ENSG00000141744 | |
PEX12 | GeneProduct | ensembl:ENSG00000108733 | |
DUSP14 | GeneProduct | ensembl:ENSG00000276023 | |
TADA2A | GeneProduct | ensembl:ENSG00000276234 | |
CCL16 | GeneProduct | ensembl:ENSG00000275152 | |
CCL3L1 | GeneProduct | ensembl:ENSG00000276085 | |
LHX1 | GeneProduct | ensembl:ENSG00000273706 | |
TBC1D3B | GeneProduct | ensembl:ENSG00000274808 | |
FNDC8 | GeneProduct | ensembl:ENSG00000073598 | |
TBC1D3K | GeneProduct | ensembl:ENSG00000273513 | |
MRM1 | GeneProduct | ensembl:ENSG00000278619 | |
RPL23 | GeneProduct | ensembl:ENSG00000125691 | |
CCL13 | GeneProduct | ensembl:ENSG00000181374 | |
FBXL20 | GeneProduct | ensembl:ENSG00000108306 | |
TBC1D3 | GeneProduct | ensembl:ENSG00000274611 | |
TBC1D3I | GeneProduct | ensembl:ENSG00000274933 | |
CCL15 | GeneProduct | ensembl:ENSG00000275718 | |
PPP1R1B | GeneProduct | ensembl:ENSG00000131771 | |
ZNF830 | GeneProduct | ensembl:ENSG00000198783 | |
LYZL6 | GeneProduct | ensembl:ENSG00000275722 | |
CCL8 | GeneProduct | ensembl:ENSG00000108700 | |
ERBB2 | GeneProduct | ensembl:ENSG00000141736 | |
ASIC2 | GeneProduct | ensembl:ENSG00000108684 | Chromosomal Location 17q11.2-q12 |
AATF | GeneProduct | ensembl:ENSG00000275700 | |
ZNHIT3 | GeneProduct | ensembl:ENSG00000273611 | |
SRCIN1 | GeneProduct | ensembl:ENSG00000277363 | |
MLLT6 | GeneProduct | ensembl:ENSG00000275023 | |
SLFN5 | GeneProduct | ensembl:ENSG00000166750 | |
FBXO47 | GeneProduct | ensembl:ENSG00000204952 | |
CCL4L2 | GeneProduct | ensembl:ENSG00000276070 | |
SYNRG | GeneProduct | ensembl:ENSG00000275066 | |
TBC1D3L | GeneProduct | ensembl:ENSG00000274512 | |
CCL3 | GeneProduct | ensembl:ENSG00000277632 | |
C17orf98 | GeneProduct | ensembl:ENSG00000275489 | |
SLFN13 | GeneProduct | ensembl:ENSG00000154760 | |
TBC1D3G | GeneProduct | ensembl:ENSG00000260287 | |
TMEM132E-DT | GeneProduct | ensembl:ENSG00000197322 | |
CCL14 | GeneProduct | ensembl:ENSG00000276409 | |
CWC25 | GeneProduct | ensembl:ENSG00000273559 | |
TMEM132E | GeneProduct | ensembl:ENSG00000181291 | |
RAD51D | GeneProduct | ensembl:ENSG00000185379 | |
TLK2P1 | GeneProduct | ensembl:ENSG00000226049 | Also known as: HUAT, LGALS9A |
CCL2 | GeneProduct | ensembl:ENSG00000108691 | |
Uncharacterized protein C17orf50 | Protein | uniprot:Q8WW18 | |
Migration and invasion enhancer 1 | Protein | uniprot:Q9BRT3 | |
Pre-mRNA-splicing factor CWC25 homolog | Protein | uniprot:Q9NXE8 | |
Growth factor receptor-bound protein 7 | Protein | uniprot:Q14451 | |
Plexin domain-containing protein 1 | Protein | uniprot:Q8IUK5 | |
CDGSH iron-sulfur domain-containing protein 3, mitochondrial | Protein | uniprot:P0C7P0 | |
C-C motif chemokine 7 | Protein | uniprot:P80098 | |
T-complex protein 1 subunit zeta-2 | Protein | uniprot:Q92526 | |
Telethonin | Protein | uniprot:O15273 | |
Zinc finger HIT domain-containing protein 3 | Protein | uniprot:Q15649 | |
C-C motif chemokine 1 | Protein | uniprot:P22362 | |
Zinc finger protein 830 | Protein | uniprot:Q96NB3 | |
Protein unc-45 homolog B | Protein | uniprot:Q8IWX7 | |
Voltage-dependent L-type calcium channel subunit beta-1 | Protein | uniprot:Q02641 | |
Uncharacterized protein C17orf78 | Protein | uniprot:Q8N4C9 | |
Gametogenetin-binding protein 2 | Protein | uniprot:Q9H3C7 | |
Schlafen family member 11 | Protein | uniprot:Q7Z7L1 | |
TBC1 domain family member 3H | Protein | uniprot:P0C7X1 | |
Polycomb group RING finger protein 2 | Protein | uniprot:P35227 | |
Protein AF-17 | Protein | uniprot:P55198 | |
C-C motif chemokine 13 | Protein | uniprot:Q99616 | |
StAR-related lipid transfer protein 3 | Protein | uniprot:Q14849 | |
Transcriptional adapter 2-alpha | Protein | uniprot:O75478 | |
C-C motif chemokine 3-like 1 | Protein | uniprot:P16619 | |
C-C motif chemokine 18 | Protein | uniprot:P55774 | |
Receptortyrosine-protein kinase erbB-2 | Protein | uniprot:P04626 | |
Ras-like proteinfamily member 10B | Protein | uniprot:Q96S79 | |
C-C motif chemokine 2 | Protein | uniprot:P13500 | Biological process: Inflammatory response & Chemotaxis |
Ribonuclease SLFN12 | Protein | uniprot:Q8IYM2 | |
C-C motif chemokine 16 | Protein | uniprot:O15467 | |
Protein HEATR9 | Protein | uniprot:A2RTY3 | |
C-C motif chemokine 8 | Protein | uniprot:P80075 | |
Notchless protein homolog 1 | Protein | uniprot:Q9NVX2 | |
Protein phosphatase 1 regulatory subunit 1B | Protein | uniprot:Q9UD71 | |
39S ribosomal protein L45, mitochondrial | Protein | uniprot:Q9BRJ2 | |
LIM/homeobox protein Lhx1 | Protein | uniprot:P48742 | |
Eotaxin | Protein | uniprot:P51671 | |
F-box/LRR-repeat protein 20 | Protein | uniprot:Q96IG2 | |
TBC1 domain family member 3C | Protein | uniprot:Q6IPX1 | |
Acid-sensing ion channel 2 | Protein | uniprot:Q16515 | Cation channel with high affinity for sodium |
DNA repair protein RAD51 homolog 4 | Protein | uniprot:O75771 | |
Zinc finger protein Aiolos | Protein | uniprot:Q9UKT9 | |
Schlafen family member 5 | Protein | uniprot:Q08AF3 | |
TATA-binding protein-associated factor 2N | Protein | uniprot:Q92804 | |
SRC kinase signaling inhibitor 1 | Protein | uniprot:Q9C0H9 | |
TBC1 domain family member 3 | Protein | uniprot:Q8IZP1 | |
Transmembrane protein 132E | Protein | uniprot:Q6IEE7 | |
Unconventional myosin-XIX | Protein | uniprot:Q96H55 | |
Elongin BC and Polycomb repressive complex 2-associated protein | Protein | uniprot:A6NHQ4 | |
C-C motif chemokine 14 | Protein | uniprot:Q16627 | |
60S ribosomal protein L23 | Protein | uniprot:P62829 | |
Neurogenic differentiation factor 2 | Protein | uniprot:Q15784 | |
AP-2 complex subunit beta | Protein | uniprot:P63010 | |
Probable ATP-dependentRNA helicase DDX52 | Protein | uniprot:Q9Y2R4 | |
Solute carrier family 35 member G3 | Protein | uniprot:Q8N808 | |
TBC1 domain family member 3K | Protein | uniprot:A0A087X1G2 | |
Synergin gamma | Protein | uniprot:Q9UMZ2 | |
Dehydrogenase/reductase SDR family member 11 | Protein | uniprot:Q6UWP2 | |
Hepatocyte nuclearfactor 1-beta | Protein | uniprot:P35680 | |
Phenylethanolamine N-methyltransferase | Protein | uniprot:P11086 | |
Cyclin-dependent kinase 12 | Protein | uniprot:Q9NYV4 | |
DNA ligase 3 | Protein | uniprot:P49916 | |
C-C motif chemokine 4 | Protein | uniprot:P13236 | |
Phosphatidylinositol-glycan biosynthesis class W protein | Protein | uniprot:Q7Z7B1 | |
TBC1 domain family member 3L | Protein | uniprot:B9A6J9 | |
Putative ADP-ribosylation factor-like protein 5C | Protein | uniprot:A6NH57 | |
Rho GTPase-activating protein 23 | Protein | uniprot:Q9P227 | |
TBC1 domain family member 3G | Protein | uniprot:Q6DHY5 | |
Dual specificity protein phosphatase 14 | Protein | uniprot:O95147 | |
Peroxisome assembly protein 12 | Protein | uniprot:O00623 | |
Protein AATF | Protein | uniprot:Q9NY61 | |
TMEM132E-DT | Protein | uniprot:A2RUQ5 | Uncharacterized protein |
C-C motif chemokine 15 | Protein | uniprot:Q16663 | |
SH3 and cysteine-rich domain-containing protein 2 | Protein | uniprot:Q6ZMT1 | |
Suppressor of cytokine signaling 7 | Protein | uniprot:O14512 | |
C-C motif chemokine 3 | Protein | uniprot:P10147 | |
GAS2-like protein 2 | Protein | uniprot:Q8NHY3 | |
TBC1 domain family member 3B | Protein | uniprot:A6NDS4 | |
Schlafen familymember 13 | Protein | uniprot:Q68D06 | |
Matrix metalloproteinase-28 | Protein | uniprot:Q9H239 | |
Post-GPI attachment to proteins factor 3 | Protein | uniprot:Q96FM1 | |
Protein SLFN14 | Protein | uniprot:P0C7P3 | |
Fibronectin type III domain-containing protein 8 | Protein | uniprot:Q8TC99 | |
Tyrosine-protein kinase Tec | Protein | uniprot:P42680 | |
C-C motif chemokine 4-like | Protein | uniprot:Q8NHW4 | |
rRNA methyltransferase1, mitochondrial | Protein | uniprot:Q6IN84 | |
Acetyl-CoA carboxylase 1 | Protein | uniprot:Q13085 | |
Mediator of RNA polymerase II transcription subunit 1 | Protein | uniprot:Q15648 | |
C-C motif chemokine 5 | Protein | uniprot:P13501 | |
F-box only protein 47 | Protein | uniprot:Q5MNV8 | |
Uncharacterized protein C17orf98 | Protein | uniprot:A8MV24 | |
Probable G-protein coupled receptor 179 | Protein | uniprot:Q6PRD1 | |
TBC1 domain family member 3I | Protein | uniprot:A0A087WXS9 | |
LIM and SH3 domain protein 1 | Protein | uniprot:Q14847 | |
E3 ubiquitin-protein ligase rififylin | Protein | uniprot:Q8WZ73 | |
RAD52 motif-containing protein 1 | Protein | uniprot:Q8NG50 | |
Lysozyme-like protein 6 | Protein | uniprot:O75951 | |
Phosphatidylinositol 5-phosphate 4-kinase type-2 beta | Protein | uniprot:P78356 |
References
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