Hs01336150_cn

• Gene Symbol: PIH1D1
• Assay Reference Genome Location: Chr.19:49451613 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 55011
• Gene Name: PIH1 domain containing 1
• Gene Aliases: NOP17
• Location: Chr.19:49446293-49452332 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIH1D1	NM_017916.2	1	246	NP_060386.1
	AK000650.1	1	198	BAA91307.1
	AK294687.1	1	172
	AK304476.1	1	206
	BC001108.2	1	176	AAH01108.1
	DC385084.1	1	246

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-A4 SNAR-G2 SULT2B1 KCNJ14 RCN3 LOC105447645 MIR150 PRRG2 PTH2 BAX SNAR-A7 ZNF114 TMEM143 LIG1 SNAR-D SNAR-A2 RASIP1 CARD8 SNAR-C2 SNAR-A13 SLC17A7 SNAR-A12 FAM83E PPP1R15A KCNA7 LOC105372430 CCDC155 PLA2G4C-AS1 HRC LOC101928295 ATF5 CGB8 DBP BCL2L12 FTL SPACA4 CGB1 MIR6799 BSPH1 LIN7B IZUMO1 TEAD2 SNRNP70 CA11 AKT1S1 SNAR-A5 SNAR-A6 PTOV1 TBC1D17 IRF3 BCAT2 SEC1P PNKP SNORD33 CGB2 SNAR-A8 PLA2G4C RRAS MIR4749 TULP2 PLEKHA4 GRIN2D LMTK3 GRWD1 FUT1 SNAR-G1 CGB7 SNAR-A1 PRMT1 SNORD32A SNAR-A3 MIR5088 KDELR1 SIGLEC16 CCDC114 FLJ26850 C19orf73 NUP62 PPFIA3 SNAR-A14 SNAR-A10 SNAR-C4 SNAR-C5 MIR4750 SNORD34 CPT1C SIGLEC11 FUZ MED25 IL4I1 FCGRT SNAR-C3 SNORD35B SNAR-C1 HSD17B14 SCAF1 PIH1D1 SPHK2 EMP3 NTF4 CGB5 NUCB1 DKKL1 NOSIP DHDH FGF21 SLC6A16 RUVBL2 GYS1 GFY LOC100287477 PRR12 NTN5 RPS11 VRK3 MIR6800 RPL13A FUT2 CD37 MIR4324 LOC101059948 SNAR-B1 ZNF473 SNAR-A11 ELSPBP1 FLT3LG MAMSTR NUCB1-AS1 PTOV1-AS1 ALDH16A1 TSKS ADM5 RPL18 CABP5 PTOV1-AS2 SYNGR4 TRPM4 CGB3 C19orf68 SNORD35A MIR4751 CYTH2 LHB AP2A1 CARD8-AS1 SNAR-B2 SNAR-A9 MIR6798
nsv833862	Chr.19:49448789 - 49570676 on Build GRCh38	Loss	SNORD35B RCN3 RPS11 MIR150 RPL13A PIH1D1 SNORD35A FLT3LG SNORD33 SNORD34 NOSIP SNORD32A ALDH16A1 FCGRT
dgv52n68	Chr.19:49286685 - 49456131 on Build GRCh38	Loss	MIR4324 PIH1D1 GFY CCDC155 TEAD2 LOC101928295 DKKL1 PTH2 SLC17A7 SLC6A16 ALDH16A1 CD37
nsv953599	Chr.19:49386444 - 49506743 on Build GRCh38	Deletion	GFY CCDC155 SNORD35B RPS11 MIR150 LOC101928295 PTH2 RPL13A PIH1D1 SNORD35A FLT3LG SLC17A7 SNORD33 SNORD34 SNORD32A ALDH16A1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

box C/D snoRNP assembly
chromatin remodeling
transcription, DNA-templated
epithelial cell differentiation
positive regulation of protein complex assembly
snoRNA localization
regulation of histone H3-K4 methylation
establishment of protein localization to chromatin
positive regulation of protein serine/threonine kinase activity
positive regulation of histone H4 acetylation
negative regulation of histone H3-K9 dimethylation
negative regulation of histone H3-K9 trimethylation
positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter
positive regulation of glucose mediated signaling pathway
regulation of TORC2 signaling
positive regulation of TORC1 signaling
positive regulation of histone H3-K9 acetylation
negative regulation of histone H4-K16 acetylation
negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway

Function(s)

RNA polymerase I CORE element sequence-specific DNA binding
RNA polymerase I upstream control element sequence-specific DNA binding
protein binding
protein kinase binding
histone binding
ATPase binding
phosphoprotein binding