Hs02192707_cn

• Gene Symbol: PIH1D1
• Assay Reference Genome Location: Chr.19:49446601 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 8 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIH1D1	NM_017916.2			NP_060386.1
	XM_006723254.2			XP_006723317.1
	AA018444.1
	AK000650.1			BAA91307.1
	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	RPL13A C19orf68 CYTH2 SNAR-C3 GRWD1 PPP1R15A NOSIP FCGRT KCNA7 CABP5 PLA2G4C-AS1 NUP62 BSPH1 ELSPBP1 CARD8 FUT2 LOC105447645 BAX NUCB1-AS1 EMP3 HRC CARD8-AS1 LHB MIR4749 RUVBL2 TBC1D17 MIR4751 HSD17B14 MIR6800 SCAF1 SNAR-A7 GRIN2D TEAD2 NTF4 SNAR-C5 C19orf73 PTOV1 SNAR-B2 CGB1 SULT2B1 MIR5088 SNAR-B1 SNAR-A12 CGB5 SNAR-G1 CCDC155 SNAR-G2 LOC101928295 FLT3LG LIN7B CA11 SNAR-C1 BCL2L12 SIGLEC16 TSKS SNAR-A3 SNORD34 PRMT1 SEC1P ZNF114 CCDC114 TULP2 MIR4324 RASIP1 NUCB1 DHDH PLEKHA4 DBP MIR150 TRPM4 FGF21 PTOV1-AS1 SNORD35B LOC100287477 GFY GYS1 FTL SNAR-A6 SLC17A7 LIG1 SNAR-A14 PRRG2 ADM5 SIGLEC11 PLA2G4C SPHK2 ATF5 SNAR-D AKT1S1 FLJ26850 IRF3 FUT1 LOC105372430 PRR12 CPT1C CGB2 SNAR-A11 SNAR-C4 CGB7 IL4I1 MAMSTR SNAR-C2 ALDH16A1 RPS11 SNAR-A9 NTN5 SNAR-A13 RRAS SNAR-A5 SYNGR4 LOC101059948 DKKL1 MIR6798 KCNJ14 MIR6799 CGB3 ZNF473 SPACA4 SNORD32A SNAR-A4 RCN3 SLC6A16 RPL18 PIH1D1 MIR4750 BCAT2 SNRNP70 SNAR-A2 SNORD35A KDELR1 PPFIA3 SNAR-A10 VRK3 PTOV1-AS2 FAM83E SNAR-A8 CD37 PNKP SNAR-A1 CGB8 IZUMO1 TMEM143 LMTK3 AP2A1 SNORD33 FUZ PTH2 MED25
dgv52n68	Chr.19:49286685 - 49456131 on Build GRCh38	Loss	PIH1D1 TEAD2 CD37 CCDC155 GFY MIR4324 PTH2 SLC6A16 DKKL1 SLC17A7 LOC101928295 ALDH16A1
nsv953599	Chr.19:49386444 - 49506743 on Build GRCh38	Deletion	RPL13A SNORD32A CCDC155 LOC101928295 ALDH16A1 RPS11 MIR150 FLT3LG PIH1D1 SNORD35B SNORD33 SNORD35A GFY SNORD34 PTH2 SLC17A7

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