Hs02583697_cn

• Gene Symbol: BCL2L12
• Assay Reference Genome Location: Chr.19:49665850 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	709	NP_001035758.1
	NM_001282516.1	1	709	NP_001269445.1
	NM_001282517.1	1	709	NP_001269446.1
	NM_001282519.1	1	709	NP_001269448.1
	NM_001282520.1	1	709	NP_001269449.1
	NM_001282521.1	1	709	NP_001269450.1
	NM_138639.1	1	709	NP_619580.1
	NR_104200.1	1	709
	NR_104201.1	1	709
	NR_104202.1	1	709
	NR_104203.1	1	709
	NR_104204.1	1	709
	NR_104205.1	1	709
	XM_017027345.1	1	779	XP_016882834.1
	XM_017027346.1	1	779	XP_016882835.1
	BC104004.1	1	285	AAI04005.1
	BC104005.1	1	285	AAI04006.1
	BC104006.1	1	285	AAI04007.1
	FJ868798.1
	FJ868799.1
	FJ868800.1
	FJ868801.1
	FJ868802.1
	FJ868803.1
	FJ911906.1
	FJ911907.1
	FJ911908.1
	HM347053.1
	KR820244.1
	KR820245.1
	KR820246.1
	KR820247.1
	KR820248.1
	KR820249.1
	KR820250.1
	KR820251.1
	KR820252.1
	KR820253.1
	KR820254.1
	KR820255.1
	KR820256.1
	KR820257.1
	KR820258.1
	KR820259.1
	KR820260.1
	KR820261.1
	KR820262.1
	KR820263.1
	KR820264.1
	KR820265.1
	KR820266.1
	KR820267.1
	KR820268.1
	KR820269.1
	KR820270.1
	KR820271.1
	KR820272.1
	KR820273.1
	KR820274.1
	KR820275.1
	KR820276.1
	KR820277.1
	KR820278.1
	KR820279.1
KR820280.1
KR820281.1
KR820282.1
KR820283.1
KR820284.1
KR820285.1
KR820286.1
KR820287.1
KR820288.1
KR820289.1
KR820290.1
KR820291.1
KR820292.1
KR820293.1

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 - 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_006723202.2			XP_006723265.1
	XM_017026766.1			XP_016882255.1
	XM_017026767.1			XP_016882256.1
	AK057577.1
	AK292027.1
	CB961512.1
	DA999381.1

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

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