Hs00994093_cn

• Gene Symbol: PIH1D1
• Assay Reference Genome Location: Chr.19:49448015 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 3 - Intron 4

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

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