1p36 copy number variation syndrome (WP5345)

Homo sapiens

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1p36 deletion or duplication syndromes are a rare genetic disorders caused by a deletion or duplication of the most distal light band of the short arm of chromosome 1.

Authors

Kieran Reidy , ElenaDR , Egon Willighagen , Jolijn Hekma Wierda , Kay Veurink , Friederike Ehrhart , Clarissa Falempin , Aishwarya Iyer , Alex Pico , and Eric Weitz

Activity

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Organisms

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Pathway Ontology

disease pathway

Disease Ontology

chromosome 1p36 deletion syndrome chromosomal duplication syndrome chromosomal deletion syndrome

Participants
Query Drugst.One

Label Type Compact URI Comment
(R)-4'-phosphopantetheine Metabolite chebi:61723
(R)-pantetheine Metabolite chebi:16753
NADP+ Metabolite hmdb:HMDB0304435
PIP2 Metabolite wikidata:Q3083814
IP3 Metabolite chebi:16595
Diacylglycerol Metabolite hmdb:HMDB0242173
NAD+ Metabolite chebi:15846
UDP-galactose Metabolite hmdb:HMDB0000302
C1P Metabolite chebi:72963
TRAF5 GeneProduct ensembl:ENSG00000082512
AGRN GeneProduct ensembl:ENSG00000188157
TNFSF18 GeneProduct ensembl:ENSG00000120337
HES5 GeneProduct ensembl:ENSG00000197921
LRP4 GeneProduct ensembl:ENSG00000134569
MUSK GeneProduct ensembl:ENSG00000030304
ELAVL1 GeneProduct ncbigene:1994
PANK4 GeneProduct ensembl:ENSG00000157881
PEX5 GeneProduct ensembl:ENSG00000139197
TNFSF4 GeneProduct ensembl:ENSG00000117586
BTLA GeneProduct ensembl:ENSG00000186265
TNFRSF14 GeneProduct ensembl:ENSG00000157873 CD270, HVEA, HVEM, LIGHTR, TR2
IFIT1 GeneProduct ensembl:ENSG00000185745
IFIH1 GeneProduct ensembl:ENSG00000115267
CD160 GeneProduct ensembl:ENSG00000117281
TRAF2 GeneProduct ensembl:ENSG00000127191
C1orf159 GeneProduct ensembl:ENSG00000131591
NOC2L GeneProduct ensembl:ENSG00000188976 NOC2L is an inhibitor of histone acetyltransferase (INHAT)
PERM1 GeneProduct ensembl:ENSG00000187642 Regulates energy metabolism via ERPa/PGC-1a
TNFRSF4 GeneProduct ensembl:ENSG00000186827
HES4 GeneProduct ensembl:ENSG00000188290 HES4 promotes inititiation of early T-cell development via notch signalling
PLEKHN1 GeneProduct ensembl:ENSG00000187583 Promote apoptosis via Bax-Bak
TNFRSF18 GeneProduct ensembl:ENSG00000186891
KLHL17 GeneProduct ensembl:ENSG00000187961 Promotes profileration + migration via the Ras + MAPK pathway
SDF4 GeneProduct ensembl:ENSG00000078808
ISG15 GeneProduct ensembl:ENSG00000187608 Ubiquiting-like protein
RNF223 GeneProduct ensembl:ENSG00000237330
OR4F29 GeneProduct ensembl:ENSG00000284733 RS:Chromosome 1:450,740-451,678
ORF4F5 GeneProduct ensembl:ENSG00000186092 Chromosome 1: 65,419-71,585
OR4F16 GeneProduct ensembl:ENSG00000284662
SAMD11 GeneProduct ensembl:ENSG00000187634
SMAD2 GeneProduct hgnc.symbol:SMAD2
SMAD3 GeneProduct hgnc.symbol:SMAD3
PEX12 GeneProduct ncbigene:5193
SMAD4 GeneProduct hgnc.symbol:SMAD4
CDK11A GeneProduct ensembl:ENSG00000008128
NADK GeneProduct ensembl:ENSG00000008130
GNB1 GeneProduct ensembl:ENSG00000078369
CALML6 GeneProduct ensembl:ENSG00000169885
CFAP74 GeneProduct ensembl:ENSG00000142609
TMEM52 GeneProduct ensembl:ENSG00000178821
GABRD GeneProduct ensembl:ENSG00000187730
PLCH2 GeneProduct ensembl:ENSG00000149527
PEX10 GeneProduct ncbigene:5192
MORN1 GeneProduct ensembl:ENSG00000116151
RER1 GeneProduct ensembl:ENSG00000157916
PRKCZ GeneProduct ensembl:ENSG00000067606
FAAP20 GeneProduct ensembl:ENSG00000162585
SKI GeneProduct ensembl:ENSG00000157933
PEX2 GeneProduct ncbigene:5828
CUL3 GeneProduct ncbigene:8452
RBX1 GeneProduct ncbigene:9978
GRIK2 GeneProduct ncbigene:2898 GLUR6
DLST GeneProduct ensembl:ENSG00000119689
COMMD1 GeneProduct ensembl:ENSG00000173163
MMP23B GeneProduct ensembl:ENSG00000189409 matrix metallopeptidase 23B. it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. 'reproduction, proteolysis, ECM organization, collagen catabolic process, pepitdase/hydrolase activtiy, zinc and metal ion binding. Protease. May regulate the surface expression of some potassium channels by retaining them in the endoplasmic reticulum '
CDK11B GeneProduct ensembl:ENSG00000248333 'cyclin dependent kinase 11B. member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Plays multiple roles in cell cycle progression, cytokinesis and apoptosis. Involved in pre-mRNA splicing in a kinase activity-dependent manner.' mitotic cell cycle, regulation cell growth and DNA templated transcription, regulation of mRNA processing, nucleotide/RNA/ATP/protein . pathways: G2/M transition, centrosome maturation, cell cycle, recruitment mitotic centrosome binding, kinase/transferase activity
MCM2 GeneProduct ensembl:ENSG00000073111
ANKRD65 GeneProduct ensembl:ENSG00000235098 ankyrin repeat domain 65, 5 transcripts, Protein Coding gene. Diseases associated with ANKRD65 include Large Intestine Adenocarcinoma and Brachial Plexus Neuritis. An important paralog of this gene is CTTNBP2. protein binding
ATAD3C GeneProduct ensembl:ENSG00000215915 'ATPase family AAA domain containing 3C, Predicted to enable zinc ion binding activity. Diseases associated with ATAD3C include Pontocerebellar Hypoplasia, Type 4 and Pontocerebellar Hypoplasia, Type 3. Gene Ontology (GO) annotations related to this gene include four-way junction helicase activity. An important paralog of this gene is ATAD3A. organization. Located in mitochondrion. lung carcinoma mitochondrial organization, nucleotide/ATP binding, ATP hydrolysis activity
PARD6B GeneProduct ensembl:ENSG00000124171
ESR1 GeneProduct ensembl:ENSG00000091831
KRT17 GeneProduct ensembl:ENSG00000128422
PHKG2 GeneProduct ensembl:ENSG00000156873
DKK3 GeneProduct ensembl:ENSG00000050165
SSU72 GeneProduct ensembl:ENSG00000160075
TGFB1 GeneProduct ensembl:ENSG00000105329
ATAD3B GeneProduct ensembl:ENSG00000160072 ATPase family AAA domain containing 3B mitochondrial organization, nucleotide/ATP binding, ATP hydrolysis activity. pathways: immune system, neutrophil degranulation, innnate immune system
TRIM25 GeneProduct ensembl:ENSG00000121060
ATAD3A GeneProduct ensembl:ENSG00000197785 ATPase family AAA domain containing 3A, This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. regulation of cell growth, mitochondrial organization, negative regulation of apoptosis, antivial innate immune response, nucleotide/protein/ATP and identical protein binding, ATP hydrolysis activity
MEPCE GeneProduct ensembl:ENSG00000146834
FNDC10 GeneProduct ensembl:ENSG00000228594 fibronectin type III domain containing 10 in membrane Predicted to be integral component of membrane.
SLC35E2B GeneProduct hgnc.symbol:SLC35E2B solute carrier family 35 member E2B , . Predicted to be involved in transmembrane transport. Predicted to act upstream of or within blastocyst hatching. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. transmembrane transport, antiporter activity
TMEM88B GeneProduct ensembl:ENSG00000205116 transmembrane protein 88B, Diseases associated with TMEM88B include Alexithymia. protein coding
HSPA8 GeneProduct ensembl:ENSG00000109971
MRPL20 GeneProduct ensembl:ENSG00000224870 affiliated with the lncRNA class, appendicular lean mass; is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture.
METTL14 GeneProduct ensembl:ENSG00000145388
MIB2 GeneProduct ensembl:ENSG00000197530 MIB E3 ubiquitin protein ligase 2 or skeletrophin. The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. 'protein encoding, pathways: notch signaling and siganl transduction, protein ubiquitination, regulation of NFkB singaling, actrin binding, zinc and metal ion binding, transferase activity. mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors.'
GDE1 GeneProduct ensembl:ENSG00000006007
28S GeneProduct ensembl:ENSG00000242485 small ribosomal subunit
VWA1 GeneProduct ensembl:ENSG00000179403 von Willebrand factor A domain containing 1, A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function protein coding, enables ECM organization and identical protein binding, behavioral response to pain, protein binding. pathway regulation of insulin growth like factor binding, vital capacity, PTM phosphorylation/ modification, protein metabolism cartilage structure ECM organization identical protein binding
TMEM240 GeneProduct ensembl:ENSG00000228594 transmembrane protein 240 inplasma membrane. synaptic membrane as well. this gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. protein encoding
INTS11 GeneProduct ensembl:ENSG00000127054
TAS1R3 GeneProduct ensembl:ENSG00000169962
PUSL1 GeneProduct ensembl:ENSG00000169972
SCNN1D GeneProduct ensembl:ENSG00000162572
Arf6 GTP-ase GeneProduct uniprot:P62330
INTS9 GeneProduct ensembl:ENSG00000104299
INTS13 GeneProduct ensembl:ENSG00000064102
CCNL2 GeneProduct ensembl:ENSG00000221978
DVL1 GeneProduct ensembl:ENSG00000107404
INTS4 GeneProduct ensembl:ENSG00000149262
ACAP3 GeneProduct ensembl:ENSG00000131584
ENaC Subunit of Epithelial Sodium Channel GeneProduct ensembl:ENST00000379116.10
INTS10 GeneProduct ensembl:ENSG00000104613
CPTP GeneProduct ensembl:ENSG00000224051
UBE2J2 GeneProduct ensembl:ENSG00000160087
INTS14 GeneProduct ensembl:ENSG00000138614
AURKAIP1 GeneProduct ensembl:ENSG00000175756
C1QTNF12 GeneProduct ensembl:ENSG00000184163
MXRA8 GeneProduct ensembl:ENSG00000162576
B3GALT6 GeneProduct ensembl:ENSG00000176022
DLL1 GeneProduct ensembl:ENSG00000198719
DLL1 Protein ensembl:ENSG00000198719
39S Protein ensembl:ENSG00000242485 add the complex of the ribosome
good for yeast, add in the genes
VEGF Protein uniprot:A0A024RD37
VTN Protein uniprot:P04004

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