Hs00696181_cn

• Gene Symbol: NR2C2AP
• Assay Reference Genome Location: Chr.19:19201664 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 126382
• Gene Name: nuclear receptor 2C2 associated protein
• Gene Aliases: TRA16
• Location: Chr.19:19201409-19203453 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NR2C2AP	NM_001300945.1			NP_001287874.1
	NM_176880.5	5	1050	NP_795361.1
	XM_011527688.2			XP_011525990.1
	AA588235.1
	AK301426.1
	AY101377.1			AAM48286.1
	BC057837.1	5	1029	AAH57837.1

Target Gene Details

• Entrez Gene ID: 8625
• Gene Name: regulatory factor X associated ankyrin containing protein
• Gene Aliases: ANKRA1, BLS, F14150_1, RFX-B
• Location: Chr.19:19192199-19201869 on Build GRCh38
• Assay Gene Location: Overlaps Intron 11 - Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RFXANK	NM_001278727.1			NP_001265656.1
	NM_001278728.1			NP_001265657.1
	NM_003721.3			NP_003712.1
	NM_134440.2			NP_604389.1
	XM_005260134.4			XP_005260191.1
	XM_005260135.3			XP_005260192.1
	XM_005260136.4			XP_005260193.1
	XM_005260137.4			XP_005260194.1
	XM_006722930.3			XP_006722993.1
	XM_017027415.1			XP_016882904.1
	XM_017027416.1			XP_016882905.1
	AF077196.1			AAD26991.1
	AF094760.1			AAC69883.1
	AF105427.1			AAD17972.1
	AF105428.1			AAD17973.1
	AW411190.1
	AW411361.1
	BC114558.1			AAI14559.1
	BC114563.1			AAI14564.1
	BG740813.1
	CR456981.1			CAG33262.1
	CR542199.1			CAG46996.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833779	Chr.19:19052683 - 19202282 on Build GRCh38	Loss	MEF2B NR2C2AP SLC25A42 TMEM161A ARMC6 BORCS8-MEF2B BORCS8 RFXANK
nsv1151217	Chr.19:18627369 - 19284914 on Build GRCh38	Deletion	TM6SF2 CERS1 BORCS8-MEF2B COPE SUGP2 RFXANK COMP CRTC1 NCAN MEF2B NR2C2AP DDX49 SLC25A42 TMEM161A KLHL26 HOMER3 ARMC6 GDF1 BORCS8 HAPLN4 SUGP1 LOC102724360 UPF1

More Information

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

Panther Classification:

Molecular Function -

protein-binding activity modulator

Gene Ontology Categories:

Process(es)

transcription initiation from RNA polymerase II promoter
transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
Ras protein signal transduction
positive regulation of transcription from RNA polymerase II promoter

Function(s)

protein binding
DNA binding
transcription factor activity, sequence-specific DNA binding
transcription cofactor activity
histone deacetylase binding