Hs00634197_cn

• Gene Symbol: PDCD1
• Assay Reference Genome Location: Chr.2:241851021 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 Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDCD1	NM_005018.2	5	972	NP_005009.2
	XM_017004293.1	5	971	XP_016859782.1
	BC074740.2			AAH74740.1
	U64863.1	5	972	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	RTP5 LINC01237 PDCD1
nsv998059	Chr.2:241830506 - 242001132 on Build GRCh38	Loss	LOC102723927 RTP5 LINC01237 PDCD1 LOC285097 LOC285095
esv3893582	Chr.2:241821357 - 241977794 on Build GRCh38	Gain	LOC102723927 RTP5 LINC01237 PDCD1 LOC107986004 LOC285095
nsv997984	Chr.2:241723206 - 242001132 on Build GRCh38	Gain	D2HGDH LOC102723927 ING5 RTP5 GAL3ST2 LINC01237 PDCD1 NEU4 LOC285097 LOC107986004 LOC285095
dgv165e55	Chr.2:241576690 - 242072479 on Build GRCh38	Loss	D2HGDH ING5 RTP5 GAL3ST2 LINC01237 PDCD1 NEU4 THAP4 LOC285097 LOC107986004 LOC102723927 ATG4B DTYMK LOC285095
nsv584991	Chr.2:241805306 - 242006956 on Build GRCh38	Loss	LOC102723927 RTP5 LINC01237 PDCD1 NEU4 LOC285097 LOC107986004 LOC285095
dgv4201n100	Chr.2:241793613 - 242017881 on Build GRCh38	Gain	LOC102723927 RTP5 GAL3ST2 LINC01237 PDCD1 NEU4 LOC285097 LOC107986004 LOC285095
nsv1002941	Chr.2:241703438 - 242147293 on Build GRCh38	Gain	D2HGDH LOC102723927 ING5 RTP5 LOC728323 GAL3ST2 LINC01237 PDCD1 NEU4 LOC285097 LOC107986004 LOC285095
nsv470533	Chr.2:241816852 - 242101996 on Build GRCh38	Loss	LOC102723927 RTP5 LOC728323 LINC01237 PDCD1 NEU4 LOC285097 LOC107986004 LOC285095
dgv4200n100	Chr.2:241786337 - 242092523 on Build GRCh38	Loss	LOC102723927 RTP5 LOC728323 GAL3ST2 LINC01237 PDCD1 NEU4 LOC285097 LOC107986004 LOC285095

More Information

• Set Membership: Intragenic, 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