Hs00814771_cn

• Gene Symbol: IL4I1
• Assay Reference Genome Location: Chr.19:49909617 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 259307
• Gene Name: interleukin 4 induced 1
• Gene Aliases: FIG1, LAAO, LAO
• Location: Chr.19:49889654-49929539 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IL4I1	NM_001258017.1			NP_001244946.1
	NM_001258018.1			NP_001244947.1
	NM_172374.2			NP_758962.1
	NR_047577.1
	AJ880386.1			CAI54291.1
	AJ880387.1			CAI54292.1
	AJ880388.1			CAI54293.1
	AJ880389.1
	BC131625.1
	BQ672052.1	2	448
	DQ079587.1			AAZ32711.1
	DQ079588.1			AAZ32712.1
	DQ079589.1			AAZ32713.1

Target Gene Details

• Entrez Gene ID: 23636
• Gene Name: nucleoporin 62
• Gene Aliases: IBSN, SNDI, p62
• Location: Chr.19:49906825-49929731 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NUP62	NM_001193357.1	2	394	NP_001180286.1
	NM_012346.4	2	435	NP_036478.2
	NM_016553.4	3	796	NP_057637.2
	NM_153718.3	2	474	NP_714940.1
	NM_153719.3	3	629	NP_714941.1
	AF318357.1	2	822	AAL55864.1
	AK000829.1	3	566
	AK125857.1	2	2080
	AK225817.1	3	540
	AL162061.1	2	396	CAB82399.1
	BC003663.2	3	523	AAH03663.1
	BC014842.1	1	271	AAH14842.1
	BC050717.2	2	397	AAH50717.1
	BC095410.1	3	555	AAH95410.1
	BC101104.1	2	386	AAI01105.1
	BC101105.1	3	508	AAI01106.1
	BC101106.1	2	295	AAI01107.1
	BC101107.1	3	541	AAI01108.1
	CB961185.1	2	499
	CR541721.1	1	191	CAG46522.1
	DA438104.1	2	474
	DA856902.1	2	435
	X58521.1	2	342	CAA41411.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	PTOV1-AS1 RPS11 MIR4324 BCAT2 LOC105447645 NOSIP PRMT1 CGB5 FLJ26850 RCN3 PPFIA3 SNAR-G1 SNAR-A5 SNAR-A3 AP2A1 NTF4 BAX ELSPBP1 PTOV1 CD37 TEAD2 MIR6799 GFY SNAR-C3 GRIN2D PLA2G4C-AS1 VRK3 LIG1 KCNJ14 CCDC114 LIN7B C19orf73 PTOV1-AS2 RRAS PNKP SNRNP70 NUP62 CGB1 DHDH SNORD35A SNAR-A8 SNAR-A1 SEC1P ALDH16A1 CYTH2 CABP5 KDELR1 FCGRT LHB SNORD34 PRRG2 IL4I1 MIR6800 RPL18 SULT2B1 SNAR-C5 TBC1D17 SNAR-A2 ZNF473 MAMSTR SLC6A16 GRWD1 RPL13A MIR150 SYNGR4 MIR6798 MIR5088 FTL MED25 KCNA7 SNAR-B2 HSD17B14 EMP3 SNAR-A14 ZNF114 GYS1 NUCB1-AS1 NUCB1 CGB8 TULP2 SNAR-G2 CGB7 SNAR-C2 FUT2 DBP CARD8-AS1 SPHK2 LOC105372430 SNAR-C1 SNAR-A9 FUZ SNAR-A6 TMEM143 CARD8 RASIP1 IZUMO1 SNAR-A12 SNAR-C4 CGB2 PRR12 PLA2G4C SNORD32A FGF21 SIGLEC11 DKKL1 MIR4750 SCAF1 LMTK3 BSPH1 MIR4751 LOC101059948 PIH1D1 IRF3 AKT1S1 LOC100287477 PTH2 SNAR-B1 NTN5 SIGLEC16 CPT1C CCDC155 SNAR-A7 SNAR-A13 ADM5 BCL2L12 PPP1R15A SNAR-A11 PLEKHA4 C19orf68 TSKS FAM83E MIR4749 CGB3 HRC SPACA4 CA11 ATF5 SNORD35B SNORD33 SNAR-D TRPM4 LOC101928295 FLT3LG SNAR-A4 SLC17A7 SNAR-A10 RUVBL2 FUT1
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	PTOV1-AS1 NUP62 AKT1S1 FUZ MED25 IL4I1 ATF5 MIR6800 AP2A1 PTOV1-AS2 PTOV1 MIR4750 TBC1D17 PNKP MIR6799 MIR4751 TSKS MIR4749
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	PTOV1-AS1 NUP62 IRF3 AKT1S1 NOSIP PRMT1 CPT1C PRRG2 IL4I1 MIR6800 AP2A1 ADM5 BCL2L12 PTOV1 TBC1D17 MIR6799 TSKS MIR4749 FUZ MIR5088 MED25 PRR12 ATF5 PTOV1-AS2 MIR4750 SCAF1 RRAS PNKP MIR4751
esv3644630	Chr.19:49877826 - 50039767 on Build GRCh38	Gain	NUP62 IL4I1 ATF5 AKT1S1 SIGLEC11 VRK3 MIR4750 TBC1D17 MIR4751 SIGLEC16 ZNF473
esv3583457	Chr.19:49899154 - 49912462 on Build GRCh38	Loss	NUP62 IL4I1
dgv54n68	Chr.19:49848512 - 50008788 on Build GRCh38	Loss	PTOV1-AS1 NUP62 AKT1S1 VRK3 SIGLEC16 IL4I1 ATF5 PTOV1-AS2 SIGLEC11 PTOV1 MIR4750 TBC1D17 PNKP MIR4751 MIR4749

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidase, transporter

Gene Ontology Categories:

Process(es)

L-phenylalanine catabolic process
oxidation-reduction process
transcription, DNA-templated
RNA export from nucleus
mRNA export from nucleus
tRNA export from nucleus
protein import into nucleus
mitotic nuclear division
mitotic nuclear envelope disassembly
cell surface receptor signaling pathway
spermatogenesis
cell aging
cell death
negative regulation of cell proliferation
hormone-mediated signaling pathway
regulation of signal transduction
regulation of glucose transport
viral process
protein sumoylation
viral transcription
gene silencing by RNA
negative regulation of epidermal growth factor receptor signaling pathway
regulation of protein import into nucleus
negative regulation of apoptotic process
negative regulation of programmed cell death
positive regulation of I-kappaB kinase/NF-kappaB signaling
negative regulation of MAP kinase activity
positive regulation of epidermal growth factor receptor signaling pathway
positive regulation of transcription, DNA-templated
regulation of Ras protein signal transduction
negative regulation of Ras protein signal transduction
protein heterotrimerization
ribonucleoprotein complex export from nucleus
intracellular transport of virus
regulation of cellular response to heat

Function(s)

L-amino-acid oxidase activity
chromatin binding
nucleocytoplasmic transporter activity
protein binding
phospholipid binding
structural constituent of nuclear pore
kinesin binding
receptor signaling complex scaffold activity
Hsp70 protein binding
SH2 domain binding
ubiquitin binding
thyroid hormone receptor binding
PTB domain binding
Hsp90 protein binding