Hs07472634_cn

• Gene Symbol: ARID5A
• Assay Reference Genome Location: Chr.2:96538343 on build GRCh38
• Cytoband: 2q11.2

Target Gene Details

• Entrez Gene ID: 10865
• Gene Name: AT-rich interaction domain 5A
• Gene Aliases: MRF-1, MRF1, RP11-363D14
• Location: Chr.2:96536719-96552638 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARID5A	NM_001319085.1			NP_001306014.1
	NM_001319087.1			NP_001306016.1
	NM_001319092.1			NP_001306021.1
	NM_001319093.1			NP_001306022.1
	NM_001319094.1			NP_001306023.1
	NM_001319096.1			NP_001306025.1
	NM_212481.2			NP_997646.1
	XM_017003183.1			XP_016858672.1
	XM_017003184.1			XP_016858673.1
	XM_017003185.1			XP_016858674.1
	AK300173.1
	AK304566.1
	AK307768.1
	BM556343.1
	BX396215.2
	BX648918.1
	CR981009.1
	HY002073.1
	HY076710.1
	M62324.1			AAA36325.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2720413	Chr.2:96472591 - 96793459 on Build GRCh38	Deletion	KANSL3 LMAN2L ARID5A CNNM4 NEURL3 LOC105373496 FER1L5
dgv607e201	Chr.2:95855884 - 97561622 on Build GRCh38	Deletion	TMEM127 ANKRD39 SEMA4C ANKRD36B NCAPH ANKRD36 LOC101927053 LOC100506123 SNRNP200 ARID5A ITPRIPL1 CNNM3 STARD7-AS1 LOC100506076 ADRA2B FAHD2B ASTL LMAN2L FAM178B ANKRD23 CNNM4 NEURL3 MIR3127 STARD7 ANKRD36C KANSL3 LOC107984110 GPAT2 FAHD2CP CIAO1 LOC105373495 LOC105373496 LOC653924 FER1L5 DUSP2
nsv1135873	Chr.2:95981454 - 97579645 on Build GRCh38	Deletion	TMEM127 ANKRD39 SEMA4C ANKRD36B NCAPH ANKRD36 LOC101927053 LOC100506123 SNRNP200 ARID5A ITPRIPL1 CNNM3 STARD7-AS1 LOC100506076 ADRA2B FAHD2B ASTL LMAN2L FAM178B ANKRD23 CNNM4 NEURL3 MIR3127 STARD7 ANKRD36C KANSL3 LOC107984110 GPAT2 FAHD2CP CIAO1 LOC105373495 LOC105373496 LOC653924 FER1L5 DUSP2
esv3425717	Chr.2:95859900 - 97515905 on Build GRCh38	Duplication	TMEM127 ANKRD39 SEMA4C ANKRD36B NCAPH ANKRD36 LOC101927053 LOC100506123 SNRNP200 ARID5A ITPRIPL1 CNNM3 STARD7-AS1 LOC100506076 ADRA2B FAHD2B ASTL LMAN2L FAM178B ANKRD23 CNNM4 NEURL3 MIR3127 STARD7 ANKRD36C KANSL3 LOC107984110 GPAT2 FAHD2CP CIAO1 LOC105373495 LOC105373496 LOC653924 FER1L5 DUSP2

More Information

Additional Information:

For this assay, SNP(s) [rs116661617] 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 -

transcription cofactor

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
negative regulation of transcription, DNA-templated

Function(s)

DNA binding
protein binding
transcription regulatory region DNA binding