Hs06351342_cn

• Gene Symbol: GATC
• Assay Reference Genome Location: Chr.12:120462991 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 283459
• Gene Name: glutamyl-tRNA amidotransferase subunit C
• Gene Aliases: 15E1.2
• Location: Chr.12:120446438-120463753 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GATC	NM_176818.2	4	3486	NP_789788.1
	NR_033684.1	5	3584

Target Gene Details

• Entrez Gene ID: 8683
• Gene Name: serine and arginine rich splicing factor 9
• Gene Aliases: SFRS9, SRp30c
• Location: Chr.12:120461668-120469755 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SRSF9	NM_003769.2			NP_003760.1
	AI005398.1
	AK290644.1
	BC093971.1			AAH93971.1
	BC093973.1			AAH93973.1
	U30825.1			AAA93069.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509482	Chr.12:120435117 - 120495113 on Build GRCh38	Insertion	DYNLL1 GATC TRIAP1 SRSF9 NRAV COX6A1

More Information

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

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

regulation of translational fidelity
mitochondrial translation
glutaminyl-tRNAGln biosynthesis via transamidation
mRNA splicing, via spliceosome
termination of RNA polymerase II transcription
mRNA splice site selection
mRNA processing
RNA export from nucleus
mRNA export from nucleus
mRNA 3'-end processing
negative regulation of mRNA splicing, via spliceosome

Function(s)

protein binding
ATP binding
glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity
nucleotide binding
poly(A) RNA binding