Hs01782493_cn

• Gene Symbol: GRINA
• Assay Reference Genome Location: Chr.8:143991620 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 2907
• Gene Name: glutamate ionotropic receptor NMDA type subunit associated protein 1
• Gene Aliases: HNRGW, LFG1, NMDARA1, TMBIM3
• Location: Chr.8:143990058-143993415 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GRINA	NM_000837.1			NP_000828.1
	NM_001009184.1			NP_001009184.1
	AB097026.1			BAC77379.1
	AK127640.1
	AK294127.1
	BC041788.1			AAH41788.2
	BC084553.1			AAH84553.1
	BM762447.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv6445	Chr.8:143961415 - 143994522 on Build GRCh38	Insertion	GRINA PARP10 PLEC
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	CYC1 GRINA EXOSC4 PARP10 SCX SHARPIN PLEC TONSL VPS28 SCRT1 WDR97 ADCK5 CPSF1 DGAT1 MIR6846 MIR1234 LRRC14 CYHR1 MAF1 MFSD3 SMPD5 MIR939 MROH1 LOC101928902 LOC101928953 GPAA1 FOXH1 MIR661 SLC52A2 SPATC1 HSF1 GPT FBXL6 MIR7112 BOP1 MIR6848 MIR6849 PPP1R16A MIR6893 RECQL4 KIFC2 TMEM249 OPLAH HGH1 MIR6847 SLC39A4 TONSL-AS1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	CYC1 GRINA EXOSC4 PARP10 SCX SHARPIN PLEC TONSL VPS28 SCRT1 WDR97 ADCK5 CPSF1 DGAT1 MIR6846 MIR1234 LRRC14 CYHR1 MAF1 MFSD3 SMPD5 MIR939 MROH1 LOC101928902 LOC101928953 GPAA1 FOXH1 MIR661 SLC52A2 SPATC1 HSF1 GPT FBXL6 MIR7112 BOP1 MIR6848 MIR6849 PPP1R16A MIR6893 RECQL4 KIFC2 TMEM249 OPLAH HGH1 MIR6847 SLC39A4 TONSL-AS1
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	CYC1 GRINA EXOSC4 PARP10 SPATC1 SHARPIN PLEC WDR97 MIR6846 OPLAH MAF1 MIR6847 SMPD5 GPAA1
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	CYC1 GRINA EXOSC4 MIR661 PARP10 SPATC1 SHARPIN PLEC EPPK1 WDR97 MIR6846 OPLAH HGH1 MAF1 MIR6847 SMPD5 MROH1 GPAA1
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	CYC1 GRINA EXOSC4 MIR661 PARP10 SPATC1 SHARPIN PLEC EPPK1 WDR97 MIR6846 OPLAH MAF1 MIR6847 SMPD5 GPAA1
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	GRINA EXOSC4 MIR661 PARP10 SPATC1 PLEC EPPK1 MIR6845 SCRIB LOC642574 MIR937 MIR6846 OPLAH NRBP2 MIR6847 PUF60 SMPD5
dgv12432n54	Chr.8:143902404 - 144007080 on Build GRCh38	Loss	GRINA MIR661 PARP10 PLEC
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	CYC1 GRINA EXOSC4 MIR6846 MIR661 OPLAH PARP10 SPATC1 MIR6847 PLEC SMPD5 GPAA1
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	CYC1 GRINA EXOSC4 MIR6846 MIR661 OPLAH PARP10 SPATC1 MIR6847 PLEC SMPD5 GPAA1

More Information

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

Gene Ontology Categories:

Process(es)

endoplasmic reticulum calcium ion homeostasis
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

Function(s)

ion channel binding