Hs05453602_cn

• Gene Symbol: CIITA
• Assay Reference Genome Location: Chr.16:10892441 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CIITA	NM_000246.3			NP_000237.2
	NM_001286402.1			NP_001273331.1
	NM_001286403.1			NP_001273332.1
	NR_104444.1
	XM_006720880.3			XP_006720943.2
	XM_011522484.2			XP_011520786.1
	XM_011522485.2			XP_011520787.1
	XM_011522486.2			XP_011520788.1
	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_011522491.2			XP_011520793.1
	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
	AF410154.1			AAL04118.1
	AY084054.1			AAM15723.1
	AY084055.1			AAM15724.1
	BE247223.1
	U18259.1			AAA88861.1
	U18288.1			AAA88862.1
	U31931.1			AAA92364.1
	X74301.1			CAA52354.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3637917	Chr.16:10867298 - 10904150 on Build GRCh38	Loss	CIITA
nsv1040428	Chr.16:10145408 - 11362136 on Build GRCh38	Gain	PRM1 MIR548H2 CIITA PRM2 TNP2 EMP2 LOC107984859 CLEC16A TVP23A GRIN2A SOCS1 LOC105371083 TEKT5 RMI2 NUBP1 ATF7IP2 DEXI PRM3

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