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	SCAF1 PRRG2 ADM5 NOSIP PRR12 BCL2L12 PRMT1 RRAS CPT1C MIR5088 IRF3
nsv833865	Chr.19:49572545 - 49730286 on Build GRCh38	Gain+Loss	SCAF1 PRRG2 ADM5 NOSIP PRR12 BCL2L12 PRMT1 RRAS CPT1C MIR5088 IRF3
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	SNAR-A10 MAMSTR SPACA4 TMEM143 RUVBL2 MIR4749 SNAR-C1 SIGLEC16 FAM83E IZUMO1 TSKS GRIN2D SNAR-C3 TRPM4 CGB7 CPT1C PNKP GRWD1 SNAR-A13 EMP3 FLT3LG SNAR-A1 NOSIP SNAR-A4 CYTH2 SPHK2 CARD8-AS1 NTF4 LOC105447645 CABP5 AP2A1 TEAD2 PPP1R15A LOC100287477 LOC101928295 RPS11 SNAR-A7 SNORD32A SNAR-A9 SNAR-A6 CGB2 SNAR-G1 SNAR-A2 RPL18 SNAR-A11 SNAR-G2 GYS1 SIGLEC11 MIR6800 ALDH16A1 MIR4751 FTL ADM5 SEC1P PTOV1-AS1 TULP2 PTH2 KCNA7 HRC PPFIA3 CGB1 LIN7B HSD17B14 PRR12 VRK3 PRMT1 PLA2G4C MIR6799 CGB5 ZNF473 SNORD35B ZNF114 PLA2G4C-AS1 NTN5 CCDC114 SLC17A7 SNAR-B2 PRRG2 CCDC155 CGB8 MIR4324 PIH1D1 FLJ26850 SNAR-C4 BSPH1 FUZ SNAR-B1 AKT1S1 PLEKHA4 CA11 GFY FGF21 MED25 SNRNP70 MIR4750 DHDH SNAR-A14 RRAS MIR5088 IRF3 RPL13A SNAR-A12 FCGRT SCAF1 SNORD34 BCL2L12 BCAT2 CARD8 SLC6A16 SNORD33 BAX SNAR-C5 RCN3 SNAR-C2 MIR6798 ATF5 NUCB1-AS1 LOC105372430 SNAR-A8 FUT2 CD37 SYNGR4 CGB3 MIR150 SULT2B1 DBP IL4I1 SNORD35A LHB LMTK3 NUP62 RASIP1 C19orf73 TBC1D17 SNAR-A3 SNAR-D KCNJ14 LIG1 LOC101059948 FUT1 PTOV1-AS2 SNAR-A5 DKKL1 KDELR1 ELSPBP1 PTOV1 C19orf68 NUCB1
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	MED25 PRR12 PTOV1-AS2 PRMT1 RRAS MIR5088 IRF3 MIR6800 MIR6799 SCAF1 FUZ MIR4749 AP2A1 TSKS ADM5 PTOV1 PTOV1-AS1 BCL2L12 CPT1C
nsv833864	Chr.19:49551790 - 49733819 on Build GRCh38	Gain	SCAF1 PRRG2 ADM5 NOSIP PRR12 BCL2L12 PRMT1 RRAS CPT1C MIR5088 IRF3
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	PRRG2 ATF5 MIR6800 FUZ MIR4749 MIR4751 TSKS AKT1S1 ADM5 PTOV1-AS1 IL4I1 CPT1C PNKP NUP62 TBC1D17 MED25 MIR4750 NOSIP PRR12 PTOV1-AS2 PRMT1 RRAS MIR5088 IRF3 MIR6799 SCAF1 AP2A1 PTOV1 BCL2L12
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	SNORD32A SNORD33 PRRG2 RCN3 MIR6800 FUZ MIR150 TSKS ADM5 PTOV1-AS1 CPT1C SNORD35A MED25 NOSIP PRR12 PRMT1 RRAS MIR5088 IRF3 RPL13A FCGRT MIR6799 SCAF1 AP2A1 SNORD35B SNORD34 RPS11 BCL2L12
nsv828578	Chr.19:49560777 - 49680548 on Build GRCh38	Loss	SCAF1 PRRG2 NOSIP PRR12 BCL2L12 PRMT1 RRAS IRF3

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