Hs00913316_cn

• Gene Symbol: IL4I1
• Assay Reference Genome Location: Chr.19:49909336 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	729
	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	675	NP_001180286.1
	NM_012346.4	2	716	NP_036478.2
	NM_016553.4	3	1077	NP_057637.2
	NM_153718.3	2	755	NP_714940.1
	NM_153719.3	3	910	NP_714941.1
	AF318357.1	2	1103	AAL55864.1
	AK000829.1	3	847
	AK125857.1	2	2361
	AK225817.1	3	821
	AL162061.1	2	677	CAB82399.1
	BC003663.2	3	804	AAH03663.1
	BC014842.1	1	552	AAH14842.1
	BC050717.2	2	678	AAH50717.1
	BC095410.1	3	836	AAH95410.1
	BC101104.1	2	667	AAI01105.1
	BC101105.1	3	789	AAI01106.1
	BC101106.1	2	576	AAI01107.1
	BC101107.1	3	822	AAI01108.1
	CR541721.1	1	472	CAG46522.1
	X58521.1	2	623	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	GRWD1 LIN7B CABP5 NUCB1-AS1 LMTK3 SNAR-C3 SNORD34 SNAR-C5 SNAR-A8 ZNF473 ADM5 FUZ KCNA7 MIR5088 AKT1S1 MIR4749 SNAR-A9 SNAR-G2 GFY PRRG2 RUVBL2 ZNF114 ELSPBP1 SNORD35A CGB8 C19orf68 PLA2G4C SNAR-A14 SNAR-A2 ALDH16A1 TMEM143 PLA2G4C-AS1 CA11 MIR6799 MAMSTR MIR4751 RRAS LOC105372430 RPL13A LOC105447645 LIG1 CCDC114 SNAR-C2 RPL18 SULT2B1 GRIN2D SLC6A16 AP2A1 SNORD35B MIR6800 NTF4 CCDC155 SNORD33 PRMT1 EMP3 NOSIP IRF3 MIR4750 RPS11 MIR4324 SNAR-A1 TULP2 BCAT2 HRC FAM83E SNORD32A SNAR-A13 PTH2 SIGLEC11 MIR6798 PTOV1-AS1 CGB5 TEAD2 SNAR-A11 KCNJ14 SNAR-D SNAR-C1 GYS1 PTOV1 FUT2 LOC101059948 PTOV1-AS2 FLJ26850 PRR12 SEC1P ATF5 TRPM4 C19orf73 CGB2 SNRNP70 CD37 SPHK2 PPFIA3 NUCB1 DHDH PLEKHA4 HSD17B14 SNAR-B1 TBC1D17 SCAF1 FTL NUP62 BAX SIGLEC16 LHB FUT1 SNAR-A6 SPACA4 NTN5 LOC101928295 SNAR-G1 PIH1D1 SNAR-C4 SNAR-A3 FGF21 CARD8 SYNGR4 FCGRT KDELR1 DBP DKKL1 CYTH2 MIR150 PPP1R15A RASIP1 BCL2L12 SNAR-B2 IZUMO1 RCN3 SLC17A7 SNAR-A12 SNAR-A4 CARD8-AS1 VRK3 CPT1C FLT3LG CGB3 SNAR-A7 SNAR-A5 MED25 TSKS IL4I1 CGB7 LOC100287477 PNKP SNAR-A10 BSPH1 CGB1
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	NUP62 AP2A1 PTOV1-AS1 MIR6800 MIR6799 MIR4751 PTOV1 MIR4750 PTOV1-AS2 MED25 TSKS IL4I1 FUZ ATF5 PNKP AKT1S1 TBC1D17 MIR4749
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	SCAF1 NUP62 PTOV1-AS1 MIR6799 MIR4751 RRAS PTOV1 PTOV1-AS2 ADM5 PRR12 FUZ ATF5 MIR5088 AKT1S1 BCL2L12 MIR4749 PRRG2 AP2A1 MIR6800 PRMT1 NOSIP IRF3 CPT1C MIR4750 MED25 TSKS IL4I1 PNKP TBC1D17
esv3644630	Chr.19:49877826 - 50039767 on Build GRCh38	Gain	ZNF473 MIR4750 NUP62 SIGLEC16 IL4I1 ATF5 MIR4751 VRK3 AKT1S1 TBC1D17 SIGLEC11
esv3583457	Chr.19:49899154 - 49912462 on Build GRCh38	Loss	NUP62 IL4I1
dgv54n68	Chr.19:49848512 - 50008788 on Build GRCh38	Loss	NUP62 PTOV1-AS1 SIGLEC16 MIR4751 VRK3 PTOV1 MIR4750 PTOV1-AS2 IL4I1 ATF5 PNKP AKT1S1 TBC1D17 MIR4749 SIGLEC11

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