Hs03358918_cn

• Gene Symbol: GUK1
• Assay Reference Genome Location: Chr.1:228139863 on build GRCh38
• Cytoband: 1q42.13

Target Gene Details

• Entrez Gene ID: 2987
• Gene Name: guanylate kinase 1
• Gene Aliases: GMK
• Location: Chr.1:228139643-228148955 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GUK1	XM_005273106.2	1	221	XP_005273163.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1160102	Chr.1:228081212 - 228239280 on Build GRCh38	Deletion	ARF1 MRPL55 C1orf145 IBA57-AS1 OBSCN GJC2 C1orf35 IBA57 MIR3620 GUK1
nsv826908	Chr.1:227707685 - 228503399 on Build GRCh38	Gain	WNT9A HIST3H3 LOC101927401 WNT3A MIR5008 TRIM17 RNF187 MIR3620 GUK1 MRPL55 PRSS38 OBSCN HIST3H2A MIR6742 IBA57 HIST3H2BB LOC107985355 ARF1 C1orf145 GJC2 MIR4666A JMJD4 TRIM11 IBA57-AS1 LOC101060022 SNAP47 C1orf35 LOC100506571 LOC105373289
esv32853	Chr.1:227692415 - 228670462 on Build GRCh38	Gain	WNT9A HIST3H3 RNA5S6 RNA5S4 RNF187 RNA5S13 MIR3620 GUK1 RNA5S5 HIST3H2A IBA57 RNA5S17 DUSP5P1 MIR4666A BTNL10 JMJD4 RNA5S14 C1orf35 RNA5S8 RNA5S2 RNA5S12 LOC101927401 WNT3A MIR5008 RNA5S15 RNA5S10 TRIM17 RHOU RNA5S9 MRPL55 PRSS38 OBSCN MIR6742 RNA5S16 RNA5S7 HIST3H2BB LOC107985355 ARF1 RNA5S11 C1orf145 LOC105373132 GJC2 RNA5S3 RNA5S1 TRIM11 IBA57-AS1 LOC101060022 SNAP47 LOC100506571 LOC105373289
nsv827019	Chr.1:228126466 - 228463319 on Build GRCh38	Loss	HIST3H3 C1orf145 LOC101927401 GJC2 TRIM17 MIR4666A GUK1 TRIM11 IBA57-AS1 OBSCN HIST3H2A MIR6742 IBA57 HIST3H2BB
nsv523935	Chr.1:227850423 - 228494048 on Build GRCh38	Loss	WNT9A HIST3H3 LOC101927401 WNT3A MIR5008 TRIM17 RNF187 MIR3620 GUK1 MRPL55 OBSCN HIST3H2A MIR6742 IBA57 HIST3H2BB LOC107985355 ARF1 C1orf145 GJC2 MIR4666A TRIM11 IBA57-AS1 LOC101060022 C1orf35 LOC100506571

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

kinase

Gene Ontology Categories:

Process(es)

purine nucleotide metabolic process
dGDP biosynthetic process
nucleobase-containing small molecule interconversion
GDP-mannose metabolic process
glycoprotein transport
ATP metabolic process
GMP metabolic process
dGMP metabolic process
dATP metabolic process
GDP biosynthetic process
nucleotide phosphorylation

Function(s)

guanylate kinase activity
ATP binding