Hs04684243_cn

• Gene Symbol: PDCD1
• Assay Reference Genome Location: Chr.2:241856213 on build GRCh38
• Cytoband: 2q37.3

Target Gene Details

• Entrez Gene ID: 5133
• Gene Name: programmed cell death 1
• Gene Aliases: CD279, PD-1, PD1, SLEB2, hPD-1, hPD-l, hSLE1
• Location: Chr.2:241849881-241858908 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDCD1	NM_005018.2			NP_005009.2
	XM_006712573.2			XP_006712636.1
	XM_017004293.1			XP_016859782.1
	AK313848.1
	AY238517.1			AAO63583.1
	BC074740.2			AAH74740.1
	KJ865859.1
	KJ865860.1
	KJ865861.1
	U64863.1			AAC51773.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv955302	Chr.2:241840449 - 241891349 on Build GRCh38	Deletion	LINC01237 PDCD1 RTP5
nsv821942	Chr.2:241855728 - 241856663 on Build GRCh38	Gain	PDCD1
nsv998059	Chr.2:241830506 - 242001132 on Build GRCh38	Loss	LINC01237 LOC285097 LOC285095 LOC102723927 PDCD1 RTP5
esv3893582	Chr.2:241821357 - 241977794 on Build GRCh38	Gain	LINC01237 LOC107986004 LOC285095 LOC102723927 PDCD1 RTP5
nsv997984	Chr.2:241723206 - 242001132 on Build GRCh38	Gain	GAL3ST2 NEU4 LINC01237 D2HGDH ING5 LOC107986004 LOC285097 LOC285095 LOC102723927 PDCD1 RTP5
dgv165e55	Chr.2:241576690 - 242072479 on Build GRCh38	Loss	D2HGDH ING5 DTYMK LOC285097 PDCD1 RTP5 GAL3ST2 NEU4 LINC01237 LOC107986004 THAP4 LOC285095 LOC102723927 ATG4B
nsv584991	Chr.2:241805306 - 242006956 on Build GRCh38	Loss	NEU4 LINC01237 LOC107986004 LOC285097 LOC285095 LOC102723927 PDCD1 RTP5
dgv4201n100	Chr.2:241793613 - 242017881 on Build GRCh38	Gain	GAL3ST2 NEU4 LINC01237 LOC107986004 LOC285097 LOC285095 LOC102723927 PDCD1 RTP5
nsv1002941	Chr.2:241703438 - 242147293 on Build GRCh38	Gain	GAL3ST2 NEU4 LINC01237 D2HGDH ING5 LOC107986004 LOC285097 LOC285095 LOC102723927 LOC728323 PDCD1 RTP5
nsv470533	Chr.2:241816852 - 242101996 on Build GRCh38	Loss	NEU4 LINC01237 LOC107986004 LOC285097 LOC285095 LOC102723927 LOC728323 PDCD1 RTP5
dgv4200n100	Chr.2:241786337 - 242092523 on Build GRCh38	Loss	GAL3ST2 NEU4 LINC01237 LOC107986004 LOC285097 LOC285095 LOC102723927 LOC728323 PDCD1 RTP5

More Information

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

Gene Ontology Categories:

Process(es)

negative regulation of tolerance induction
apoptotic process
humoral immune response
signal transduction
multicellular organism development
T cell costimulation
negative regulation of apoptotic process
positive regulation of T cell apoptotic process

Function(s)

signal transducer activity
protein binding