Hs04585616_cn

• Gene Symbol: PDCD1
• Assay Reference Genome Location: Chr.2:241851832 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 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDCD1	NM_005018.2			NP_005009.2
	XM_017004293.1			XP_016859782.1
	AK313848.1
	AY206416.1			AAO25116.1
	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 RTP5 PDCD1
nsv998059	Chr.2:241830506 - 242001132 on Build GRCh38	Loss	LOC102723927 LOC285095 LINC01237 LOC285097 RTP5 PDCD1
esv3893582	Chr.2:241821357 - 241977794 on Build GRCh38	Gain	LOC102723927 LOC285095 LOC107986004 LINC01237 RTP5 PDCD1
nsv997984	Chr.2:241723206 - 242001132 on Build GRCh38	Gain	NEU4 LOC102723927 LOC285095 D2HGDH ING5 LOC107986004 LINC01237 GAL3ST2 LOC285097 RTP5 PDCD1
dgv165e55	Chr.2:241576690 - 242072479 on Build GRCh38	Loss	LOC102723927 ING5 LINC01237 GAL3ST2 LOC285097 PDCD1 ATG4B NEU4 DTYMK THAP4 LOC285095 D2HGDH LOC107986004 RTP5
nsv584991	Chr.2:241805306 - 242006956 on Build GRCh38	Loss	NEU4 LOC102723927 LOC285095 LOC107986004 LINC01237 LOC285097 RTP5 PDCD1
dgv4201n100	Chr.2:241793613 - 242017881 on Build GRCh38	Gain	NEU4 LOC102723927 LOC285095 LOC107986004 LINC01237 GAL3ST2 LOC285097 RTP5 PDCD1
nsv1002941	Chr.2:241703438 - 242147293 on Build GRCh38	Gain	NEU4 LOC102723927 LOC285095 D2HGDH ING5 LOC107986004 LINC01237 LOC728323 GAL3ST2 LOC285097 RTP5 PDCD1
nsv470533	Chr.2:241816852 - 242101996 on Build GRCh38	Loss	NEU4 LOC102723927 LOC285095 LOC107986004 LINC01237 LOC728323 LOC285097 RTP5 PDCD1
dgv4200n100	Chr.2:241786337 - 242092523 on Build GRCh38	Loss	NEU4 LOC102723927 LOC285095 LOC107986004 LINC01237 LOC728323 GAL3ST2 LOC285097 RTP5 PDCD1

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