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

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