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	PARP10 GRINA PLEC
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	MIR6893 ADCK5 FOXH1 OPLAH MIR6848 HGH1 MIR6849 CYHR1 TONSL MIR1234 VPS28 FBXL6 TONSL-AS1 SLC52A2 HSF1 MAF1 MIR6846 MIR6847 DGAT1 WDR97 CPSF1 LRRC14 SPATC1 MROH1 GPT PLEC SMPD5 EXOSC4 SLC39A4 GPAA1 LOC101928902 MIR661 SCX LOC101928953 PARP10 GRINA TMEM249 CYC1 PPP1R16A BOP1 KIFC2 SCRT1 SHARPIN RECQL4 MIR7112 MIR939 MFSD3
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	MIR6893 ADCK5 FOXH1 OPLAH MIR6848 HGH1 MIR6849 CYHR1 TONSL MIR1234 VPS28 FBXL6 TONSL-AS1 SLC52A2 HSF1 MAF1 MIR6846 MIR6847 DGAT1 WDR97 CPSF1 LRRC14 SPATC1 MROH1 GPT PLEC SMPD5 EXOSC4 SLC39A4 GPAA1 LOC101928902 MIR661 SCX LOC101928953 PARP10 GRINA TMEM249 CYC1 PPP1R16A BOP1 KIFC2 SCRT1 SHARPIN RECQL4 MIR7112 MIR939 MFSD3
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	WDR97 SPATC1 OPLAH PLEC SMPD5 EXOSC4 GPAA1 PARP10 GRINA CYC1 MAF1 SHARPIN MIR6846 MIR6847
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	EPPK1 WDR97 SPATC1 OPLAH MROH1 HGH1 PLEC SMPD5 EXOSC4 GPAA1 MIR661 PARP10 GRINA CYC1 MAF1 SHARPIN MIR6846 MIR6847
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	EPPK1 WDR97 SPATC1 OPLAH PLEC SMPD5 EXOSC4 GPAA1 MIR661 PARP10 GRINA CYC1 MAF1 SHARPIN MIR6846 MIR6847
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	NRBP2 EPPK1 PUF60 MIR6845 SPATC1 OPLAH PLEC SMPD5 EXOSC4 MIR661 PARP10 GRINA SCRIB MIR937 MIR6846 LOC642574 MIR6847
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	GPAA1 MIR661 PARP10 GRINA CYC1 SPATC1 OPLAH MIR6846 PLEC MIR6847 SMPD5 EXOSC4
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	WDR97 SPATC1 OPLAH PLEC SMPD5 EXOSC4 GPAA1 MIR661 PARP10 GRINA CYC1 MAF1 SHARPIN MIR6846 MIR6847
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	GPAA1 MIR661 PARP10 GRINA SPATC1 OPLAH MIR6846 PLEC MIR6847 SMPD5 EXOSC4

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