Hs00611716_cn

• Gene Symbol: RBM14
• Assay Reference Genome Location: Chr.11:66616621 on build GRCh38
• Cytoband: 11q13.2

Target Gene Details

• Entrez Gene ID: 10432
• Gene Name: RNA binding motif protein 14
• Gene Aliases: COAA, PSP2, SIP, SYTIP1, TMEM137
• Location: Chr.11:66616582-66629934 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RBM14	NM_001198836.1			NP_001185765.1
	NM_001198837.1			NP_001185766.1
	NM_006328.3			NP_006319.1
	AF080561.1			AAC64058.1
	AF315632.1			AAK77961.1
	AF315633.1			AAK77962.1
	AK021768.1
	AK222830.1			BAD96550.1
	AK297907.1
	AK307254.1
	BC000488.2			AAH00488.1
	DB044990.1

Target Gene Details

• Entrez Gene ID: 100526737
• Gene Name: RBM14-RBM4 readthrough
• Gene Aliases: COAZ
• Location: Chr.11:66616582-66646473 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RBM14-RBM4	NM_001198845.1			NP_001185774.1
	NM_001198846.1			NP_001185775.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522277	Chr.11:66466552 - 66726354 on Build GRCh38	Loss	RBM4B LOC101928069 RBM14 ZDHHC24 CCDC87 DPP3 CCS BBS1 RBM4 RBM14-RBM4 PELI3 ACTN3 SPTBN2 CTSF
nsv363	Chr.11:66597906 - 66629110 on Build GRCh38	Insertion	RBM14-RBM4 RBM14 CCS

More Information

Additional Information:

For this assay, SNP(s) [rs143792797] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

DNA replication
DNA repair
DNA recombination
transcription, DNA-templated
response to hormone
histone deacetylation
intracellular estrogen receptor signaling pathway
glucocorticoid receptor signaling pathway
positive regulation of transcription from RNA polymerase II promoter
negative regulation of centriole replication
SMAD protein signal transduction
centriole assembly

Function(s)

nucleotide binding
RNA polymerase II transcription cofactor activity
RNA binding
protein binding
ligand-dependent nuclear receptor transcription coactivator activity
protein binding, bridging
poly(A) RNA binding