Hs01714795_cn

• Gene Symbol: BCL2L12
• Assay Reference Genome Location: Chr.19:49665582 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	441	NP_001035758.1
	NM_001282516.1	1	441	NP_001269445.1
	NM_001282517.1	1	441	NP_001269446.1
	NM_001282519.1	1	441	NP_001269448.1
	NM_001282520.1	1	441	NP_001269449.1
	NM_001282521.1	1	441	NP_001269450.1
	NM_138639.1	1	441	NP_619580.1
	NR_104200.1	1	441
	NR_104201.1	1	441
	NR_104202.1	1	441
	NR_104203.1	1	441
	NR_104204.1	1	441
	NR_104205.1	1	441
	XM_017027345.1	1	511	XP_016882834.1
	XM_017027346.1	1	511	XP_016882835.1
	BC104004.1			AAI04005.1
	BC104005.1			AAI04006.1
	BC104006.1			AAI04007.1

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 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	1	294
	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	276
	AK292027.1	1	276
	AK314421.1
	BC000660.2			AAH00660.1
	BC009395.2			AAH09395.1
	CB961512.1
	DA938709.1	1	185
	DA999381.1	1	294
	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	IRF3 SCAF1 ADM5 RRAS NOSIP CPT1C BCL2L12 PRR12 MIR5088 PRMT1 PRRG2
nsv833865	Chr.19:49572545 - 49730286 on Build GRCh38	Gain+Loss	IRF3 SCAF1 ADM5 RRAS NOSIP CPT1C BCL2L12 PRR12 MIR5088 PRMT1 PRRG2
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	KDELR1 TMEM143 SNAR-A11 DBP SNORD33 IL4I1 RRAS PTH2 SNAR-G2 MIR4324 IRF3 MIR6798 CGB1 MIR150 SNORD34 TEAD2 RCN3 SULT2B1 FAM83E GRIN2D CD37 DHDH TULP2 SLC6A16 SNAR-A3 MIR6799 SPHK2 SNAR-B1 SNORD32A C19orf68 BCL2L12 ALDH16A1 CGB5 MIR6800 C19orf73 KCNA7 HRC LOC105447645 LOC101928295 RPS11 SNORD35A MED25 RPL13A NOSIP LOC101059948 FGF21 TBC1D17 ADM5 PTOV1-AS2 ATF5 LHB LIG1 SIGLEC11 SCAF1 HSD17B14 FLT3LG SNAR-A2 AKT1S1 SNAR-A5 GFY ZNF114 PRMT1 PRRG2 GYS1 EMP3 LOC105372430 RUVBL2 SNAR-B2 AP2A1 NUCB1 SNAR-C1 MIR4749 GRWD1 ZNF473 NUP62 CCDC114 SNAR-A13 BAX CGB7 NTN5 SNAR-G1 SNAR-A14 PLEKHA4 BCAT2 SNAR-A12 SNAR-A9 SNAR-A8 MIR4751 MAMSTR CA11 FUT2 CGB2 CARD8 CARD8-AS1 MIR4750 SNAR-A4 PLA2G4C-AS1 SNAR-A10 SPACA4 SNAR-C5 SNAR-C2 TRPM4 IZUMO1 LIN7B RPL18 CYTH2 LOC100287477 FUT1 RASIP1 SIGLEC16 MIR5088 KCNJ14 SNAR-C3 SNORD35B TSKS CGB3 CABP5 SNAR-A7 SNRNP70 PIH1D1 CPT1C FUZ PPFIA3 PNKP SNAR-A6 VRK3 FLJ26850 NTF4 FCGRT PTOV1 SEC1P LMTK3 CGB8 PLA2G4C PTOV1-AS1 PRR12 SYNGR4 SLC17A7 ELSPBP1 SNAR-D SNAR-A1 DKKL1 PPP1R15A NUCB1-AS1 CCDC155 FTL BSPH1 SNAR-C4
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	TSKS ADM5 RRAS PTOV1-AS2 MIR6799 PTOV1-AS1 CPT1C FUZ BCL2L12 AP2A1 PRR12 MIR6800 IRF3 SCAF1 MIR4749 MED25 MIR5088 PTOV1 PRMT1
nsv833864	Chr.19:49551790 - 49733819 on Build GRCh38	Gain	IRF3 SCAF1 ADM5 RRAS NOSIP CPT1C BCL2L12 PRR12 MIR5088 PRMT1 PRRG2
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	TSKS IL4I1 TBC1D17 ADM5 RRAS PTOV1-AS2 ATF5 CPT1C FUZ IRF3 SCAF1 PNKP MIR4751 AKT1S1 PTOV1 PRMT1 PRRG2 MIR4750 MIR6799 PTOV1-AS1 BCL2L12 AP2A1 PRR12 MIR6800 MIR4749 NUP62 MED25 NOSIP MIR5088
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	SNORD35B TSKS SNORD33 ADM5 RRAS CPT1C FUZ IRF3 SCAF1 MIR150 SNORD34 RCN3 FCGRT PRMT1 PRRG2 MIR6799 SNORD32A PTOV1-AS1 BCL2L12 AP2A1 PRR12 MIR6800 RPS11 SNORD35A MED25 RPL13A NOSIP MIR5088
nsv828578	Chr.19:49560777 - 49680548 on Build GRCh38	Loss	IRF3 SCAF1 RRAS NOSIP BCL2L12 PRR12 PRMT1 PRRG2

More Information

• Set Membership: Intragenic, 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