Hs02042230_cn

• Gene Symbol: CLHC1
• Assay Reference Genome Location: Chr.2:55232310 on build GRCh38
• Cytoband: 2p16.1

Target Gene Details

• Entrez Gene ID: 130162
• Gene Name: clathrin heavy chain linker domain containing 1
• Gene Aliases: C2orf63
• Location: Chr.2:55172547-55232563 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CLHC1	NM_001135598.1			NP_001129070.1
	NM_152385.2			NP_689598.2
	XM_005264136.2	1	58	XP_005264193.1
	XM_011532519.2			XP_011530821.1
	XM_011532520.2	1	188	XP_011530822.1
	XM_011532521.2	1	188	XP_011530823.1
	XM_011532522.2	1	188	XP_011530824.1
	XM_011532523.2	1	188	XP_011530825.1
	XM_011532524.1			XP_011530826.1
	XM_011532527.2			XP_011530829.1
	XM_011532528.1			XP_011530830.1
	XM_011532529.2	1	188	XP_011530831.1
	XM_011532530.1			XP_011530832.1
	XM_011532534.1	1	58	XP_011530836.1
	XM_017003333.1			XP_016858822.1
	XM_017003334.1	1	188	XP_016858823.1
	XM_017003335.1			XP_016858824.1
	XM_017003336.1	1	188	XP_016858825.1
	XM_017003338.1	1	188	XP_016858827.1
	XM_017003339.1			XP_016858828.1
	XM_017003340.1			XP_016858829.1
	XM_017003341.1	1	189	XP_016858830.1
	XM_017003342.1			XP_016858831.1
	XM_017003343.1			XP_016858832.1
	XM_017003344.1	1	187	XP_016858833.1
	XM_017003345.1	1	187	XP_016858834.1
	XM_017003346.1			XP_016858835.1
	XM_017003347.1	1	189	XP_016858836.1
	XM_017003348.1			XP_016858837.1
	XM_017003350.1	1	187	XP_016858839.1
	AK056000.1			BAB71069.1
	AK315683.1
	BC029502.1			AAH29502.1
	BC036908.1			AAH36908.1
	BM046729.1
	DA713663.1

Target Gene Details

• Entrez Gene ID: 6233
• Gene Name: ribosomal protein S27a
• Gene Aliases: CEP80, HEL112, S27A, UBA80, UBC, UBCEP1, UBCEP80
• Location: Chr.2:55231903-55235853 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPS27A	NM_001135592.2			NP_001129064.1
	CK004647.1
	DB505702.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2720078	Chr.2:53962225 - 55281329 on Build GRCh38	Deletion	C2orf73 RPL23AP32 TSPYL6 ACYP2 EML6 SPTBN1 PSME4 MTIF2 RTN4 RPS27A CLHC1
nsv522016	Chr.2:55177658 - 55333162 on Build GRCh38	Gain	PRORSD1P CCDC88A MTIF2 RPS27A CLHC1

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

vesicle coat protein

Gene Ontology Categories:

Process(es)

G2/M transition of mitotic cell cycle
negative regulation of transcription from RNA polymerase II promoter
MAPK cascade
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
activation of MAPK activity
protein polyubiquitination
nucleotide-excision repair, DNA damage recognition
nucleotide-excision repair, DNA duplex unwinding
stimulatory C-type lectin receptor signaling pathway
MyD88-dependent toll-like receptor signaling pathway
MyD88-independent toll-like receptor signaling pathway
glycogen biosynthetic process
transcription-coupled nucleotide-excision repair
nucleotide-excision repair, preincision complex assembly
nucleotide-excision repair, DNA incision, 5'-to lesion
nucleotide-excision repair, DNA gap filling
rRNA processing
translation
translational initiation
SRP-dependent cotranslational protein targeting to membrane
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
transforming growth factor beta receptor signaling pathway
Notch signaling pathway
I-kappaB kinase/NF-kappaB signaling
JNK cascade
fibroblast growth factor receptor signaling pathway
regulation of tumor necrosis factor-mediated signaling pathway
regulation of necrotic cell death
Wnt signaling pathway
endosomal transport
macroautophagy
viral life cycle
virion assembly
viral transcription
translesion synthesis
negative regulation of transforming growth factor beta receptor signaling pathway
anaphase-promoting complex-dependent catabolic process
regulation of type I interferon production
negative regulation of type I interferon production
tumor necrosis factor-mediated signaling pathway
nucleotide-excision repair, DNA incision
ion transmembrane transport
TRIF-dependent toll-like receptor signaling pathway
interstrand cross-link repair
NIK/NF-kappaB signaling
Fc-epsilon receptor signaling pathway
ERBB2 signaling pathway
negative regulation of epidermal growth factor receptor signaling pathway
error-prone translesion synthesis
DNA damage response, detection of DNA damage
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
positive regulation of apoptotic process
negative regulation of apoptotic process
positive regulation of I-kappaB kinase/NF-kappaB signaling
proteasome-mediated ubiquitin-dependent protein catabolic process
regulation of mRNA stability
cellular protein metabolic process
innate immune response
positive regulation of epidermal growth factor receptor signaling pathway
positive regulation of transcription from RNA polymerase II promoter
T cell receptor signaling pathway
positive regulation of NF-kappaB transcription factor activity
stress-activated MAPK cascade
negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle
positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition
Wnt signaling pathway, planar cell polarity pathway
regulation of transcription from RNA polymerase II promoter in response to hypoxia
nucleotide-binding oligomerization domain containing signaling pathway
global genome nucleotide-excision repair
error-free translesion synthesis
intracellular transport of virus
negative regulation of canonical Wnt signaling pathway
positive regulation of canonical Wnt signaling pathway
regulation of signal transduction by p53 class mediator

Function(s)

protein binding
structural constituent of ribosome
poly(A) RNA binding
metal ion binding