Hs00544696_cn

• Gene Symbol: PIWIL1
• Assay Reference Genome Location: Chr.12:130396792 on build GRCh38
• Cytoband: 12q24.33

Target Gene Details

• Entrez Gene ID: 9271
• Gene Name: piwi like RNA-mediated gene silencing 1
• Gene Aliases: CT80.1, HIWI, MIWI, PIWI
• Location: Chr.12:130337887-130412708 on Build GRCh38
• Assay Gene Location: Within Intron 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIWIL1	XM_017020229.1			XP_016875718.1

Target Gene Details

• Entrez Gene ID: 23504
• Gene Name: RIMS binding protein 2
• Gene Aliases: PPP1R133, RBP2, RIM-BP2
• Location: Chr.12:130396133-130716361 on Build GRCh38
• Assay Gene Location: Within Exon 26

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RIMBP2	NM_015347.4	19	5666	NP_056162.4
	XM_011538102.1	21	4872	XP_011536404.1
	XM_011538103.2	23	5088	XP_011536405.1
	XM_011538104.2	23	5149	XP_011536406.1
	XM_011538105.2	22	4606	XP_011536407.1
	XM_011538106.2	21	4447	XP_011536408.1
	XM_017019105.1	23	5347	XP_016874594.1
	XM_017019106.1	22	4360	XP_016874595.1
	XM_017019107.1	22	4428	XP_016874596.1
	XM_017019108.1	22	4611	XP_016874597.1
	XM_017019109.1	20	4155	XP_016874598.1
	XM_017019110.1	22	6040	XP_016874599.1
	XM_017019111.1	22	4182	XP_016874600.1
	AB002316.1	19	5666

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv560744	Chr.12:130395238 - 130790045 on Build GRCh38	Gain	STX2 RIMBP2 PIWIL1
nsv818938	Chr.12:130382306 - 130426671 on Build GRCh38	Gain	RIMBP2 PIWIL1
esv3582027	Chr.12:130227822 - 130722407 on Build GRCh38	Gain	RIMBP2 PIWIL1
esv3631200	Chr.12:130375734 - 130607674 on Build GRCh38	Gain	RIMBP2 PIWIL1
esv34208	Chr.12:129528244 - 130603882 on Build GRCh38	Gain	FZD10-AS1 RIMBP2 PIWIL1 TMEM132D FZD10 LOC100190940
dgv2977n54	Chr.12:130222462 - 130829669 on Build GRCh38	Gain	STX2 RIMBP2 PIWIL1
nsv560735	Chr.12:129710094 - 130478603 on Build GRCh38	Gain	FZD10-AS1 RIMBP2 PIWIL1 TMEM132D FZD10 LOC100190940
esv2759921	Chr.12:129461919 - 130631031 on Build GRCh38	Gain+Loss	FZD10-AS1 RIMBP2 PIWIL1 TMEM132D FZD10 LOC100190940
nsv469863	Chr.12:130350018 - 130554797 on Build GRCh38	Gain	RIMBP2 PIWIL1
nsv560740	Chr.12:130341310 - 130399802 on Build GRCh38	Gain	RIMBP2 PIWIL1
nsv1037230	Chr.12:130378621 - 130425847 on Build GRCh38	Gain	RIMBP2 PIWIL1

More Information

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

Panther Classification:

Molecular Function -

translation initiation factor

Gene Ontology Categories:

Process(es)

regulation of translation
multicellular organism development
spermatid development
gene silencing by RNA
piRNA metabolic process
meiotic cell cycle
negative regulation of phosphatase activity

Function(s)

single-stranded RNA binding
mRNA binding
protein binding
protein kinase binding
piRNA binding