Hs05417232_cn

• Gene Symbol: CIITA
• Assay Reference Genome Location: Chr.16:10934896 on build GRCh38
• Cytoband: 16p13.13

Target Gene Details

• Entrez Gene ID: 4261
• Gene Name: class II, major histocompatibility complex, transactivator
• Gene Aliases: C2TA, CIITAIV, MHC2TA, NLRA
• Location: Chr.16:10866208-10941562 on Build GRCh38
• Assay Gene Location: Within Intron 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CIITA	XM_006720880.3			XP_006720943.2
	XM_011522485.2			XP_011520787.1
	XM_011522487.2			XP_011520789.1
	XM_011522488.2			XP_011520790.1
	XM_011522489.2			XP_011520791.1
	XM_011522490.2			XP_011520792.1
	XM_011522492.2			XP_011520794.1
	XM_011522493.2			XP_011520795.1
	XM_011522494.2			XP_011520796.1
	XM_011522495.2			XP_011520797.1
	XM_011522496.2			XP_011520798.1
	AK124033.1	1	994

Target Gene Details

• Entrez Gene ID: 28955
• Gene Name: Dexi homolog
• Gene Aliases: MYLE
• Location: Chr.16:10928891-10943007 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DEXI	NM_014015.3			NP_054734.2
	XM_011522455.2			XP_011520757.1
	XM_017023171.1			XP_016878660.1
	AF108145.2			AAC83382.2
	AF129929.1
	BC001083.2			AAH01083.2
	BC037569.1			AAH37569.1
	BC052989.1			AAH52989.1
	BC071683.1			AAH71683.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv571452	Chr.16:10907520 - 10936885 on Build GRCh38	Loss	DEXI CIITA
nsv1040428	Chr.16:10145408 - 11362136 on Build GRCh38	Gain	LOC107984859 RMI2 EMP2 PRM3 PRM2 PRM1 ATF7IP2 CLEC16A SOCS1 LOC105371083 DEXI TEKT5 MIR548H2 TNP2 NUBP1 CIITA TVP23A GRIN2A

More Information

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

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-templated
immune response
phosphorylation
negative regulation of collagen biosynthetic process
response to interferon-gamma
positive regulation of MHC class I biosynthetic process
positive regulation of MHC class II biosynthetic process
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
response to antibiotic
interferon-gamma-mediated signaling pathway

Function(s)

DNA binding
transcription coactivator activity
protein binding
ATP binding
GTP binding
protein C-terminus binding
kinase activity
transferase activity, transferring acyl groups
protein complex binding
activating transcription factor binding
transcription regulatory region DNA binding