Hs01760034_cn

• Gene Symbol: PIH1D1
• Assay Reference Genome Location: Chr.19:49451784 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	75	NP_060386.1
	AK000650.1			BAA91307.1
	AK294687.1
	AK304476.1
	BC001108.2			AAH01108.1
	DC385084.1	1	75

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

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