Hs00252691_cn

• Gene Symbol: FAM83E
• Assay Reference Genome Location: Chr.19:48607604 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 54854
• Gene Name: family with sequence similarity 83 member E
• Gene Aliases: -
• Location: Chr.19:48600600-48614841 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAM83E	NM_017708.3			NP_060178.2
	XM_005259019.1			XP_005259076.1
	XM_011527049.2			XP_011525351.1
	AK000207.1			BAA91009.1
	BC111970.1			AAI11971.1
	BC111972.1			AAI11973.1

Target Gene Details

• Entrez Gene ID: 171169
• Gene Name: sperm acrosome associated 4
• Gene Aliases: SAMP14
• Location: Chr.19:48606743-48607714 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPACA4	NM_133498.2	1	862	NP_598005.1
	AF353721.2	1	862	AAL83950.1
	AY358387.1	1	844	AAQ88753.1
	BC047334.1	1	842	AAH47334.1

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	SNAR-A7 SNRNP70 FLJ26850 ADM5 IZUMO1 SLC6A16 KCNA7 TSKS BAX TRPM4 LOC101928295 RASIP1 FUT1 NUCB1-AS1 CCDC155 SNAR-B1 NTN5 ATF5 PPFIA3 C19orf73 NUP62 SNAR-A14 CGB8 BCL2L12 KDELR1 PLA2G4C-AS1 VRK3 C19orf68 IL4I1 PRRG2 MIR4749 MIR4751 LHB BCAT2 FGF21 MIR4324 MED25 PIH1D1 PTH2 TBC1D17 SIGLEC16 CGB2 CYTH2 SNAR-D SNAR-A4 NUCB1 FCGRT SNAR-A1 CABP5 SLC17A7 CARD8 MIR6800 ZNF473 GRWD1 SNAR-A13 TEAD2 SNORD33 RRAS CGB1 PLEKHA4 LOC105447645 SNAR-A9 SULT2B1 FTL SNAR-B2 SNAR-A12 SNAR-A6 LOC105372430 ELSPBP1 SNAR-A10 BSPH1 IRF3 DBP MIR150 PRR12 MIR5088 ZNF114 TMEM143 PRMT1 SNAR-A2 CCDC114 SNAR-C5 LMTK3 SNAR-A11 SNORD35A PLA2G4C LIN7B HRC SNAR-C1 EMP3 CPT1C AKT1S1 CD37 CA11 NOSIP SNAR-C4 TULP2 AP2A1 PPP1R15A PTOV1-AS1 CARD8-AS1 SNORD32A DKKL1 SNAR-G1 HSD17B14 SNAR-A8 MIR6798 RUVBL2 FAM83E RCN3 CGB5 PTOV1 LOC101059948 FLT3LG SNAR-C3 SNORD34 LIG1 GFY SNORD35B SYNGR4 SPACA4 SNAR-G2 DHDH RPL13A PNKP SPHK2 GRIN2D NTF4 RPL18 PTOV1-AS2 SNAR-A3 CGB7 RPS11 FUZ FUT2 SNAR-A5 KCNJ14 GYS1 MIR6799 SEC1P MAMSTR CGB3 SCAF1 SIGLEC11 ALDH16A1 LOC100287477 SNAR-C2 MIR4750
dgv666e214	Chr.19:48604616 - 48609671 on Build GRCh38	Loss	FAM83E SPACA4
dgv3617n100	Chr.19:48532114 - 48643732 on Build GRCh38	Gain	SEC1P SPHK2 FAM83E RPL18 CA11 SPACA4 SULT2B1 DBP
nsv1057580	Chr.19:48512123 - 48608737 on Build GRCh38	Gain	FAM83E SPACA4 LMTK3 SULT2B1

More Information

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

Gene Ontology Categories:

Process(es)

cell adhesion

Function(s)

protein kinase binding