Hs04888513_cn

• Gene Symbol: PM20D2
• Assay Reference Genome Location: Chr.6:89109669 on build GRCh38
• Cytoband: 6q15

Target Gene Details

• Entrez Gene ID: 135293
• Gene Name: peptidase M20 domain containing 2
• Gene Aliases: ACY1L2, bA63L7.3
• Location: Chr.6:89096879-89165569 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PM20D2	XM_011535481.2			XP_011533783.1

Target Gene Details

• Entrez Gene ID: 135295
• Gene Name: serine and arginine rich splicing factor 12
• Gene Aliases: SFRS13B, SFRS19, SRrp35
• Location: Chr.6:89095957-89118081 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SRSF12	NM_080743.4			NP_542781.3
	XM_006715348.2			XP_006715411.1
	XM_011535483.2			XP_011533785.1
	XM_017010292.1			XP_016865781.1
	XM_017010293.1			XP_016865782.1
	AF449428.1			AAL57515.1
	AK314008.1
	BC021715.1			AAH21715.1
	BP244338.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1023532	Chr.6:89093252 - 89253488 on Build GRCh38	Loss	PM20D2 SRSF12 GABRR1
nsv1027007	Chr.6:89099218 - 89628146 on Build GRCh38	Gain	ANKRD6 PM20D2 SRSF12 UBE2J1 GABRR2 GABRR1 RRAGD

More Information

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

Panther Classification:

Molecular Function -

metalloprotease, RNA splicing factor

Gene Ontology Categories:

Process(es)

proteolysis
regulation of cellular protein metabolic process
spliceosomal tri-snRNP complex assembly
regulation of alternative mRNA splicing, via spliceosome
mRNA 5'-splice site recognition
negative regulation of mRNA splicing, via spliceosome

Function(s)

dipeptidase activity
nucleotide binding
RNA binding
poly(A) RNA binding
RS domain binding
unfolded protein binding