Hs00948728_cn

• Gene Symbol: BCL2L12
• Assay Reference Genome Location: Chr.19:49665194 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	53	NP_001035758.1
	NM_001282516.1	1	53	NP_001269445.1
	NM_001282517.1	1	53	NP_001269446.1
	NM_001282519.1	1	53	NP_001269448.1
	NM_001282520.1	1	53	NP_001269449.1
	NM_001282521.1	1	53	NP_001269450.1
	NM_138639.1	1	53	NP_619580.1
	NR_104200.1	1	53
	NR_104201.1	1	53
	NR_104202.1	1	53
	NR_104203.1	1	53
	NR_104204.1	1	53
	NR_104205.1	1	53
	XM_017027345.1	1	123	XP_016882834.1
	XM_017027346.1	1	123	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: Within Intron 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	664
	AK292027.1
	AK314421.1
	BC000660.2			AAH00660.1
	BC009395.2			AAH09395.1
	BC071721.1			AAH71721.1
	CB961512.1
	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	RRAS PRRG2 BCL2L12 CPT1C SCAF1 NOSIP ADM5 PRR12 PRMT1 IRF3 MIR5088
nsv833865	Chr.19:49572545 - 49730286 on Build GRCh38	Gain+Loss	RRAS PRRG2 BCL2L12 CPT1C SCAF1 NOSIP ADM5 PRR12 PRMT1 IRF3 MIR5088
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	DHDH PLA2G4C PPP1R15A CABP5 SNAR-C4 SNAR-C1 TBC1D17 MIR5088 PRRG2 PIH1D1 IL4I1 TRPM4 GYS1 RUVBL2 ZNF473 MIR6799 SPACA4 SNAR-A1 SNAR-G2 PTH2 SNAR-A2 PLEKHA4 CD37 CGB2 NUP62 IZUMO1 SNAR-A10 SULT2B1 ADM5 GFY PRMT1 IRF3 SNORD32A FUT2 RRAS LMTK3 CYTH2 AP2A1 RASIP1 LOC100287477 LIG1 SNORD35A CCDC114 SNAR-A4 SNAR-A13 HRC C19orf73 SIGLEC11 KCNJ14 SNORD33 SNAR-C3 AKT1S1 SNAR-A3 RPL13A DKKL1 FLT3LG SPHK2 FUZ SNAR-A9 SLC6A16 NTF4 CCDC155 SNORD34 SNORD35B MED25 FCGRT SLC17A7 SNAR-A14 ATF5 SNAR-C5 MIR6800 RCN3 SNAR-A11 SIGLEC16 NTN5 CGB1 BCL2L12 ELSPBP1 SCAF1 SNAR-A5 KDELR1 BCAT2 CGB8 KCNA7 SNAR-A6 CGB7 GRIN2D TSKS MIR4749 PTOV1 BAX ALDH16A1 HSD17B14 ZNF114 SNAR-D LHB SNRNP70 SNAR-G1 BSPH1 FLJ26850 DBP SNAR-B2 LOC105447645 PNKP SNAR-B1 PTOV1-AS1 RPL18 NOSIP NUCB1-AS1 CA11 NUCB1 SNAR-A12 CPT1C SNAR-C2 CGB5 PPFIA3 FUT1 CARD8-AS1 MAMSTR EMP3 FGF21 MIR4751 CGB3 SYNGR4 TULP2 TMEM143 SNAR-A7 CARD8 PLA2G4C-AS1 VRK3 LIN7B TEAD2 PTOV1-AS2 FAM83E MIR150 C19orf68 LOC101059948 MIR4324 SEC1P MIR4750 RPS11 LOC105372430 MIR6798 FTL LOC101928295 SNAR-A8 PRR12 GRWD1
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	RRAS FUZ MIR4749 PTOV1 BCL2L12 CPT1C AP2A1 MIR6799 SCAF1 MIR5088 MED25 PTOV1-AS1 MIR6800 ADM5 PRR12 TSKS PTOV1-AS2 PRMT1 IRF3
nsv833864	Chr.19:49551790 - 49733819 on Build GRCh38	Gain	RRAS PRRG2 BCL2L12 CPT1C SCAF1 NOSIP ADM5 PRR12 PRMT1 IRF3 MIR5088
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	RRAS BCL2L12 CPT1C AP2A1 TBC1D17 SCAF1 MIR5088 PRRG2 MIR4751 IL4I1 AKT1S1 TSKS PTOV1-AS2 FUZ MIR4749 PTOV1 MIR6799 MIR4750 MED25 PNKP ATF5 PTOV1-AS1 MIR6800 NUP62 NOSIP ADM5 PRR12 PRMT1 IRF3
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	RRAS BCL2L12 CPT1C AP2A1 SNORD35A SCAF1 SNORD33 MIR5088 PRRG2 TSKS RPL13A MIR150 FUZ MIR6799 RPS11 SNORD34 SNORD35B MED25 FCGRT PTOV1-AS1 MIR6800 RCN3 NOSIP ADM5 PRR12 PRMT1 IRF3 SNORD32A
nsv828578	Chr.19:49560777 - 49680548 on Build GRCh38	Loss	RRAS PRRG2 BCL2L12 SCAF1 NOSIP PRR12 PRMT1 IRF3

More Information

• Set Membership: Intragenic, Exonic, Intronic, 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