Hs01745225_cn

• Gene Symbol: IL4I1
• Assay Reference Genome Location: Chr.19:49908463 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
	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	1548	NP_001180286.1
	NM_012346.4	2	1589	NP_036478.2
	NM_016553.4	3	1950	NP_057637.2
	NM_153718.3	2	1628	NP_714940.1
	NM_153719.3	3	1783	NP_714941.1
	AF318357.1			AAL55864.1
	AK000829.1	3	1720
	AK125857.1	2	3234
	AK225817.1	4	1466
	AL162061.1	2	1550	CAB82399.1
	BC003663.2	3	1677	AAH03663.1
	BC014842.1	1	1425	AAH14842.1
	BC050717.2	2	1551	AAH50717.1
	BC095410.1	3	1709	AAH95410.1
	BC101104.1	2	1540	AAI01105.1
	BC101105.1	3	1662	AAI01106.1
	BC101106.1	2	1449	AAI01107.1
	BC101107.1	3	1695	AAI01108.1
	BG575286.1	1	169
	CR541721.1	1	1345	CAG46522.1
	X58521.1	2	1496	CAA41411.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3644628	Chr.19:49861781 - 49908526 on Build GRCh38	Gain	AKT1S1 TBC1D17 IL4I1 MIR4750 NUP62 PNKP
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	MIR5088 SNRNP70 NUCB1-AS1 CGB5 SNAR-C5 RCN3 PTOV1 RUVBL2 ELSPBP1 SPACA4 HRC LHB LOC101928295 CA11 ALDH16A1 SULT2B1 BAX MIR4749 FUT1 SNAR-G1 PTOV1-AS1 SEC1P ATF5 FLT3LG TSKS PTOV1-AS2 SNORD33 SCAF1 SNAR-A14 KCNJ14 CARD8-AS1 SLC6A16 SNAR-A10 IRF3 SNAR-A11 MED25 LOC105372430 LIN7B NUCB1 CGB3 MIR6800 PLEKHA4 SNAR-A1 SNAR-B1 PRR12 SNAR-D AP2A1 RASIP1 RPS11 GFY LOC105447645 MIR4750 SNAR-A5 SNAR-A2 NTF4 TMEM143 TRPM4 SNAR-A12 CPT1C CGB8 CARD8 PLA2G4C RPL13A FCGRT ADM5 SIGLEC11 PNKP FGF21 LIG1 CGB7 CGB1 GRWD1 ZNF473 SNAR-C3 SNAR-A13 PTH2 SNORD32A FUZ FTL PIH1D1 DBP SNAR-G2 VRK3 LMTK3 SNAR-A7 MIR6799 LOC101059948 MIR6798 LOC100287477 KDELR1 IL4I1 GYS1 NOSIP NUP62 MAMSTR NTN5 TULP2 PRRG2 FUT2 SNAR-C1 CCDC155 PPFIA3 PRMT1 CD37 IZUMO1 CABP5 SNORD35B HSD17B14 SIGLEC16 PPP1R15A MIR4324 C19orf73 KCNA7 SNORD35A EMP3 PLA2G4C-AS1 SNAR-A9 BCL2L12 TBC1D17 RRAS MIR150 SYNGR4 ZNF114 SNAR-B2 CGB2 SNAR-A3 FAM83E SPHK2 DHDH SNAR-A6 BSPH1 FLJ26850 SNAR-C4 SNORD34 SLC17A7 CYTH2 AKT1S1 SNAR-A4 C19orf68 RPL18 TEAD2 MIR4751 BCAT2 CCDC114 DKKL1 GRIN2D SNAR-C2 SNAR-A8
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	AKT1S1 ATF5 MIR6800 FUZ TBC1D17 TSKS PTOV1-AS2 PTOV1 MIR6799 PNKP AP2A1 MIR4751 MED25 IL4I1 MIR4749 MIR4750 NUP62 PTOV1-AS1
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	MIR5088 BCL2L12 MIR6800 FUZ TBC1D17 RRAS PRR12 PTOV1 MIR6799 AP2A1 IL4I1 MIR4749 MIR4750 NOSIP NUP62 PTOV1-AS1 CPT1C PRRG2 AKT1S1 ATF5 PRMT1 TSKS PTOV1-AS2 ADM5 SCAF1 PNKP MIR4751 IRF3 MED25
esv3644630	Chr.19:49877826 - 50039767 on Build GRCh38	Gain	MIR4751 SIGLEC16 AKT1S1 ZNF473 ATF5 TBC1D17 IL4I1 VRK3 MIR4750 SIGLEC11 NUP62
esv3583457	Chr.19:49899154 - 49912462 on Build GRCh38	Loss	IL4I1 NUP62
dgv54n68	Chr.19:49848512 - 50008788 on Build GRCh38	Loss	AKT1S1 ATF5 TBC1D17 PTOV1-AS2 VRK3 PTOV1 SIGLEC11 PNKP MIR4751 SIGLEC16 IL4I1 MIR4749 MIR4750 NUP62 PTOV1-AS1

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