Hs02411772_cn

• Gene Symbol: BCL2L12
• Assay Reference Genome Location: Chr.19:49665495 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 83596
• Gene Name: BCL2 like 12
• Gene Aliases: -
• Location: Chr.19:49665072-49673916 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BCL2L12	NM_001040668.1	1	354	NP_001035758.1
	NM_001282516.1	1	354	NP_001269445.1
	NM_001282517.1	1	354	NP_001269446.1
	NM_001282519.1	1	354	NP_001269448.1
	NM_001282520.1	1	354	NP_001269449.1
	NM_001282521.1	1	354	NP_001269450.1
	NM_138639.1	1	354	NP_619580.1
	NR_104200.1	1	354
	NR_104201.1	1	354
	NR_104202.1	1	354
	NR_104203.1	1	354
	NR_104204.1	1	354
	NR_104205.1	1	354
	XM_017027345.1	1	424	XP_016882834.1
	XM_017027346.1	1	424	XP_016882835.1

Target Gene Details

• Entrez Gene ID: 3661
• Gene Name: interferon regulatory factor 3
• Gene Aliases: IIAE7
• Location: Chr.19:49659569-49665875 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IRF3	NM_001197122.1			NP_001184051.1
	NM_001197123.1			NP_001184052.1
	NM_001197124.1			NP_001184053.1
	NM_001197125.1			NP_001184054.1
	NM_001197126.1			NP_001184055.1
	NM_001197127.1			NP_001184056.1
	NM_001197128.1			NP_001184057.1
	NM_001571.5			NP_001562.1
	NR_045568.1
	XM_006723197.1			XP_006723260.1
	XM_006723198.1			XP_006723261.1
	XM_006723201.1			XP_006723264.1
	XM_006723202.2			XP_006723265.1
	XM_017026766.1			XP_016882255.1
	XM_017026767.1			XP_016882256.1
	AK057577.1	1	363
	AK292027.1
	AK314421.1
	BC000660.2			AAH00660.1
	BC009395.2			AAH09395.1
	CB961512.1
	DA938709.1
	DA999381.1	1	381
	HM357932.1
	HM357933.1
	HM357934.1
	HM357935.1
	HM357936.1
	HM357937.1
	Z56281.1			CAA91227.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv469715	Chr.19:49572544 - 49730286 on Build GRCh38	Gain+Loss	ADM5 MIR5088 SCAF1 RRAS CPT1C PRMT1 PRRG2 IRF3 BCL2L12 PRR12 NOSIP
nsv833865	Chr.19:49572545 - 49730286 on Build GRCh38	Gain+Loss	ADM5 MIR5088 SCAF1 RRAS CPT1C PRMT1 PRRG2 IRF3 BCL2L12 PRR12 NOSIP
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	SNAR-B2 PTOV1-AS2 SNAR-D TMEM143 FUZ FLT3LG SYNGR4 KDELR1 PNKP MIR4750 SNAR-C1 CA11 SNORD35B LOC101059948 MIR4751 SNAR-A5 SNAR-C2 SULT2B1 DBP CGB2 IL4I1 BCL2L12 C19orf73 PLA2G4C RPS11 PLA2G4C-AS1 SIGLEC11 MIR6799 SNAR-A10 GRIN2D MIR4749 HSD17B14 SNAR-A4 NUCB1-AS1 PRRG2 SNAR-A1 EMP3 PTOV1-AS1 FCGRT SNAR-A12 PTOV1 LIN7B FGF21 SNAR-A13 CGB1 CGB7 IRF3 MIR150 GRWD1 NOSIP SNAR-A7 MIR6798 CGB5 PPP1R15A RASIP1 DKKL1 RRAS BCAT2 CD37 MIR6800 AKT1S1 LIG1 CGB8 PIH1D1 KCNA7 CARD8 CCDC155 TRPM4 CYTH2 SNORD33 TBC1D17 HRC GFY LMTK3 AP2A1 ZNF473 NUP62 LHB ATF5 FLJ26850 IZUMO1 RPL13A PPFIA3 RPL18 SNORD35A SNRNP70 SNORD32A SPACA4 SNAR-A8 NTF4 SNAR-C4 SEC1P C19orf68 SNAR-A6 TSKS VRK3 SNAR-G1 MAMSTR LOC101928295 SNAR-A9 PLEKHA4 SPHK2 BSPH1 SNAR-A14 FUT2 BAX MIR5088 SNAR-G2 ELSPBP1 RUVBL2 SNAR-C3 CGB3 TULP2 GYS1 FTL PTH2 SLC17A7 LOC105447645 SNAR-C5 SCAF1 SNAR-A11 NTN5 FUT1 CPT1C TEAD2 PRMT1 LOC105372430 ALDH16A1 LOC100287477 SNAR-A2 ZNF114 CCDC114 CABP5 SNORD34 MIR4324 SNAR-B1 FAM83E CARD8-AS1 PRR12 NUCB1 KCNJ14 DHDH ADM5 SIGLEC16 MED25 SNAR-A3 RCN3 SLC6A16
nsv817854	Chr.19:49618821 - 49726387 on Build GRCh38	Gain	ADM5 MIR5088 SCAF1 RRAS CPT1C PRMT1 IRF3 BCL2L12 PRR12
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	PTOV1-AS2 MIR5088 AP2A1 NUP62 FUZ ATF5 IRF3 NOSIP PNKP MIR4750 SCAF1 MIR4751 CPT1C PRMT1 IL4I1 BCL2L12 MIR6799 RRAS MIR4749 MIR6800 AKT1S1 PRR12 ADM5 MED25 TSKS PRRG2 PTOV1-AS1 TBC1D17 PTOV1
nsv833864	Chr.19:49551790 - 49733819 on Build GRCh38	Gain	ADM5 MIR5088 SCAF1 RRAS CPT1C PRMT1 PRRG2 IRF3 BCL2L12 PRR12 NOSIP
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	MIR5088 AP2A1 FUZ IRF3 MIR150 NOSIP RPL13A SNORD35B SCAF1 SNORD35A CPT1C PRMT1 SNORD32A BCL2L12 RPS11 MIR6799 RRAS MIR6800 SNORD34 PRR12 ADM5 MED25 TSKS RCN3 PRRG2 PTOV1-AS1 SNORD33 FCGRT
nsv828578	Chr.19:49560777 - 49680548 on Build GRCh38	Loss	SCAF1 RRAS PRMT1 PRRG2 IRF3 BCL2L12 PRR12 NOSIP

More Information

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

Panther Classification:

Molecular Function -

winged helix/forkhead transcription factor

Gene Ontology Categories:

Process(es)

apoptotic process
positive regulation of transcription from RNA polymerase II promoter
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
inhibition of cysteine-type endopeptidase activity involved in apoptotic process
negative regulation of cellular senescence
negative regulation of transcription from RNA polymerase II promoter
transcription from RNA polymerase II promoter
cellular response to DNA damage stimulus
lipopolysaccharide-mediated signaling pathway
negative regulation of type I interferon production
positive regulation of type I interferon production
positive regulation of interferon-alpha production
positive regulation of interferon-beta production
TRIF-dependent toll-like receptor signaling pathway
MDA-5 signaling pathway
positive regulation of I-kappaB kinase/NF-kappaB signaling
response to exogenous dsRNA
type I interferon biosynthetic process
positive regulation of cytokine secretion
defense response to virus
interferon-gamma-mediated signaling pathway
type I interferon signaling pathway
positive regulation of type I interferon-mediated signaling pathway
cellular response to dsRNA
macrophage apoptotic process
programmed necrotic cell death

Function(s)

p53 binding
RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
DNA binding
transcription cofactor activity
protein binding
identical protein binding
protein homodimerization activity