Hs04030709_cn

• Gene Symbol: PIH1D1
• Assay Reference Genome Location: Chr.19:49448725 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 Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIH1D1	NM_017916.2			NP_060386.1
	XM_006723254.2			XP_006723317.1
	AK000650.1			BAA91307.1
	AK304476.1
	BC001108.2			AAH01108.1

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

More Information

• Set Membership: Intragenic, Intronic, Non-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