Hs01003367_cn

• Gene Symbol: PIH1D1
• Assay Reference Genome Location: Chr.19:49449565 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIH1D1	NM_017916.2	3	531	NP_060386.1
	XM_006723254.2	2	157	XP_006723317.1
	AK000650.1	3	483	BAA91307.1
	AK294687.1	3	457
	AK304476.1	3	582
	BC001108.2	3	461	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	SIGLEC11 ADM5 NTF4 CYTH2 CARD8 PTOV1-AS1 SNORD35B SNAR-C5 SNAR-A6 SNAR-A7 SPHK2 PRRG2 SNAR-A8 SNAR-G1 RPS11 SNAR-C2 CPT1C SNAR-A11 SPACA4 IZUMO1 ZNF473 GYS1 SLC17A7 PLA2G4C RRAS FTL LOC101928295 GRWD1 PTOV1 SNAR-A9 SNORD32A RASIP1 SIGLEC16 CGB3 FUT1 CA11 TMEM143 SNAR-D ZNF114 BAX LIN7B KCNA7 PPP1R15A MIR4750 AKT1S1 NTN5 PLA2G4C-AS1 SNAR-G2 IL4I1 PRMT1 SCAF1 C19orf73 CGB5 MIR6798 SNAR-A13 CCDC114 CARD8-AS1 RPL18 NUP62 SNORD33 LIG1 CABP5 NOSIP SNAR-C3 FUT2 CGB2 PRR12 HRC SNAR-A10 LMTK3 TEAD2 HSD17B14 LHB NUCB1-AS1 SNAR-C1 SNORD34 FLT3LG ALDH16A1 CGB8 KDELR1 TULP2 LOC100287477 DKKL1 PTH2 FUZ RPL13A EMP3 PTOV1-AS2 DHDH ELSPBP1 SNAR-A1 SYNGR4 SNAR-A12 BCL2L12 SNRNP70 NUCB1 MIR4324 ATF5 CGB7 BCAT2 RUVBL2 FGF21 KCNJ14 MIR150 SULT2B1 SLC6A16 DBP SNAR-A2 MIR5088 SNAR-A4 TBC1D17 PPFIA3 SNAR-A5 SNAR-A14 SNAR-C4 GRIN2D CD37 SNAR-B2 PNKP LOC105447645 IRF3 LOC101059948 GFY MAMSTR FCGRT BSPH1 PIH1D1 VRK3 PLEKHA4 MIR6800 MIR6799 MIR4751 TSKS CGB1 SNAR-A3 FLJ26850 RCN3 SNAR-B1 AP2A1 MIR4749 SNORD35A SEC1P CCDC155 TRPM4 LOC105372430 MED25 C19orf68 FAM83E
nsv833862	Chr.19:49448789 - 49570676 on Build GRCh38	Loss	SNORD34 RCN3 FLT3LG ALDH16A1 SNORD35B SNORD33 SNORD35A FCGRT PIH1D1 NOSIP RPL13A MIR150 SNORD32A RPS11
dgv52n68	Chr.19:49286685 - 49456131 on Build GRCh38	Loss	GFY PIH1D1 DKKL1 TEAD2 PTH2 CCDC155 MIR4324 SLC17A7 CD37 LOC101928295 SLC6A16 ALDH16A1
nsv953599	Chr.19:49386444 - 49506743 on Build GRCh38	Deletion	SNORD34 FLT3LG ALDH16A1 SNORD35B GFY SNORD33 SNORD35A PIH1D1 PTH2 CCDC155 RPL13A SLC17A7 MIR150 LOC101928295 SNORD32A RPS11

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