Hs02507097_cn

• Gene Symbol: DHFR
• Assay Reference Genome Location: Chr.5:80654811 on build GRCh38
• Cytoband: 5q14.1

Target Gene Details

• Entrez Gene ID: 1719
• Gene Name: dihydrofolate reductase
• Gene Aliases: DHFRP1, DYR
• Location: Chr.5:80626226-80654981 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DHFR	NM_000791.3	1	171	NP_000782.1
	NM_001290354.1	1	171	NP_001277283.1
	NM_001290357.1	1	171	NP_001277286.1
	NR_110936.1	1	171
	BC003584.1	2	134	AAH03584.2
	BC071996.1	2	134	AAH71996.1
	CB988944.1	1	200

Target Gene Details

• Entrez Gene ID: 4437
• Gene Name: mutS homolog 3
• Gene Aliases: DUP, MRP1
• Location: Chr.5:80654648-80876815 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MSH3	NM_002439.4	1	164	NP_002430.3
	AK289856.1	1	160
	BC011817.2	1	132	AAH11817.1
	BC130434.1	1	164
	BC130436.1	1	164
	J04810.1	1	145	AAB47281.1
	U61981.1	1	100	AAB06045.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv483112	Chr.5:80551019 - 80731514 on Build GRCh38	Loss	MTRNR2L2 LINC01337 DHFR MSH3 ANKRD34B
esv3605581	Chr.5:80643908 - 80656286 on Build GRCh38	Gain	MTRNR2L2 DHFR MSH3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

reductase, DNA metabolism protein

Gene Ontology Categories:

Process(es)

G1/S transition of mitotic cell cycle
regulation of transcription involved in G1/S transition of mitotic cell cycle
glycine biosynthetic process
tetrahydrobiopterin biosynthetic process
one-carbon metabolic process
nucleotide biosynthetic process
axon regeneration
response to methotrexate
dihydrofolate metabolic process
tetrahydrofolate metabolic process
tetrahydrofolate biosynthetic process
folic acid metabolic process
positive regulation of nitric-oxide synthase activity
oxidation-reduction process
regulation of removal of superoxide radicals
meiotic mismatch repair
DNA repair
mismatch repair
reciprocal meiotic recombination
maintenance of DNA repeat elements
negative regulation of DNA recombination
positive regulation of helicase activity

Function(s)

mRNA binding
dihydrofolate reductase activity
folic acid binding
drug binding
folate reductase activity
methotrexate binding
NADPH binding
damaged DNA binding
single-stranded DNA binding
protein binding
ATP binding
enzyme binding
mismatched DNA binding
guanine/thymine mispair binding
dinucleotide insertion or deletion binding
single guanine insertion binding
dinucleotide repeat insertion binding
oxidized purine DNA binding
protein homodimerization activity