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	UPK3BL LRWD1 MIR4467 LOC107983993 MIR5090 RASA4B POLR2J2 MIR548O SPDYE2 RASA4 ALKBH4 POLR2J3 POLR2J PRKRIP1 LOC102724229 ORAI2 SPDYE6 LOC100289561 SPDYE2B LOC100630923
nsv471450	Chr.7:102473103 - 102478934 on Build GRCh38	Gain	POLR2J LRWD1
dgv11541n54	Chr.7:102473462 - 102646638 on Build GRCh38	Loss	POLR2J3 POLR2J UPK3BL LOC102724229 LOC107983993 RASA4B POLR2J2 SPDYE2 RASA4
nsv8192	Chr.7:102450605 - 102692752 on Build GRCh38	Gain	UPK3BL LRWD1 MIR4467 LOC107983993 MIR5090 RASA4B POLR2J2 SPDYE2 RASA4 ALKBH4 POLR2J3 POLR2J LOC102724229 ORAI2 SPDYE2B
esv27624	Chr.7:102472919 - 102691417 on Build GRCh38	Gain+Loss	POLR2J3 POLR2J UPK3BL LRWD1 LOC102724229 LOC107983993 RASA4B POLR2J2 SPDYE2B SPDYE2 RASA4
dgv6538n100	Chr.7:102171110 - 103063688 on Build GRCh38	Gain	UPK3BL LRWD1 MIR4467 LOC107983993 FBXL13 MIR5090 NFE4 RASA4B POLR2J2 MIR548O RASA4 POLR2J LOC102724229 SPDYE6 SPDYE2B LOC100630923 FAM185A CUX1 SPDYE2 LRRC17 ALKBH4 SH2B2 POLR2J3 PRKRIP1 ORAI2 LOC100289561 MIR4285
nsv428182	Chr.7:102257460 - 102735503 on Build GRCh38	Gain	UPK3BL LRWD1 MIR4467 LOC107983993 FBXL13 MIR5090 RASA4B POLR2J2 MIR548O CUX1 SPDYE2 RASA4 ALKBH4 SH2B2 POLR2J3 POLR2J PRKRIP1 LOC102724229 ORAI2 SPDYE6 LOC100289561 SPDYE2B LOC100630923 MIR4285
nsv464664	Chr.7:102385213 - 102473462 on Build GRCh38	Gain	ALKBH4 POLR2J LRWD1 PRKRIP1 MIR4467 ORAI2 MIR5090 MIR548O LOC100630923
nsv5879	Chr.7:102450321 - 102747356 on Build GRCh38	Deletion	UPK3BL LRWD1 MIR4467 LOC107983993 FBXL13 MIR5090 RASA4B POLR2J2 SPDYE2 RASA4 ALKBH4 POLR2J3 POLR2J LOC102724229 ORAI2 SPDYE2B
nsv607999	Chr.7:102451288 - 102473452 on Build GRCh38	Loss	ALKBH4 POLR2J LRWD1 MIR4467 ORAI2 MIR5090

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