Hs00278740_cn

• Gene Symbol: PIH1D1
• Assay Reference Genome Location: Chr.19:49451510 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: Overlaps Intron 1 - Exon 1

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

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

More Information

• Set Membership: Intragenic, 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