Hs02228943_cn

• Gene Symbol: POLR2J
• Assay Reference Genome Location: Chr.7:102473506 on build GRCh38
• Cytoband: 7q22.1

Target Gene Details

• Entrez Gene ID: 5439
• Gene Name: RNA polymerase II subunit J
• Gene Aliases: POLR2J1, RPB11, RPB11A, RPB11m, hRPB14
• Location: Chr.7:102473100-102478999 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POLR2J	NM_006234.4	4	571	NP_006225.1
	XM_005250452.4			XP_005250509.1
	XM_017012353.1			XP_016867842.1
	AK290515.1
	BC024165.1			AAH24165.1
	BC065711.1	4	549	AAH65711.1
	BC139902.1
	BC141830.1
	BM545237.1
	BM791979.1	2	223
	L37127.1			AAD05361.1
	X82385.1			CAA57785.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831083	Chr.7:102340560 - 102655422 on Build GRCh38	Loss	MIR5090 RASA4 PRKRIP1 POLR2J POLR2J2 LRWD1 SPDYE6 SPDYE2B LOC107983993 LOC100289561 MIR4467 POLR2J3 ALKBH4 MIR548O SPDYE2 LOC100630923 UPK3BL LOC102724229 RASA4B ORAI2
nsv482111	Chr.7:102473103 - 102478934 on Build GRCh38	Gain	POLR2J LRWD1
dgv11541n54	Chr.7:102473462 - 102646638 on Build GRCh38	Loss	RASA4 LOC107983993 POLR2J3 POLR2J SPDYE2 UPK3BL LOC102724229 RASA4B POLR2J2
nsv8192	Chr.7:102450605 - 102692752 on Build GRCh38	Gain	MIR5090 RASA4 POLR2J POLR2J2 LRWD1 SPDYE2B LOC107983993 MIR4467 POLR2J3 ALKBH4 SPDYE2 UPK3BL LOC102724229 RASA4B ORAI2
esv27624	Chr.7:102472919 - 102691417 on Build GRCh38	Gain+Loss	SPDYE2B RASA4 LOC107983993 POLR2J3 POLR2J SPDYE2 UPK3BL LOC102724229 RASA4B POLR2J2 LRWD1
nsv428182	Chr.7:102257460 - 102735503 on Build GRCh38	Gain	MIR5090 RASA4 PRKRIP1 MIR4285 POLR2J CUX1 POLR2J2 LRWD1 SPDYE6 SPDYE2B LOC107983993 LOC100289561 MIR4467 POLR2J3 ALKBH4 MIR548O SPDYE2 FBXL13 LOC100630923 UPK3BL LOC102724229 RASA4B ORAI2 SH2B2
dgv6538n100	Chr.7:102171110 - 103063688 on Build GRCh38	Gain	RASA4 MIR4285 POLR2J CUX1 POLR2J2 LOC107983993 MIR4467 POLR2J3 SPDYE2 LOC100630923 RASA4B ORAI2 MIR5090 PRKRIP1 LRWD1 SPDYE6 SPDYE2B LOC100289561 FAM185A ALKBH4 LRRC17 MIR548O FBXL13 UPK3BL NFE4 LOC102724229 SH2B2
nsv607998	Chr.7:102385213 - 102473462 on Build GRCh38	Gain+Loss	MIR5090 PRKRIP1 MIR4467 ALKBH4 POLR2J MIR548O LOC100630923 ORAI2 LRWD1
nsv5879	Chr.7:102450321 - 102747356 on Build GRCh38	Deletion	MIR5090 RASA4 POLR2J POLR2J2 LRWD1 SPDYE2B LOC107983993 MIR4467 POLR2J3 ALKBH4 SPDYE2 FBXL13 UPK3BL LOC102724229 RASA4B ORAI2
nsv607999	Chr.7:102451288 - 102473452 on Build GRCh38	Loss	MIR5090 MIR4467 ALKBH4 POLR2J ORAI2 LRWD1

More Information

Additional Information:

For this assay, SNP(s) [rs576255328] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA-directed RNA polymerase, RNA metabolism protein, nucleic acid metabolism protein

Gene Ontology Categories:

Process(es)

mRNA splicing, via spliceosome
transcription-coupled nucleotide-excision repair
transcription from RNA polymerase II promoter
transcription initiation from RNA polymerase II promoter
transcription elongation from RNA polymerase II promoter
7-methylguanosine mRNA capping
fibroblast growth factor receptor signaling pathway
gene expression
gene silencing by RNA
somatic stem cell population maintenance
snRNA transcription from RNA polymerase II promoter
positive regulation of viral transcription

Function(s)

RNA polymerase II activity
DNA binding
DNA-directed RNA polymerase activity
protein binding
LRR domain binding
protein dimerization activity