Hs00045990_cn

• Gene Symbol: PRODH
• Assay Reference Genome Location: Chr.22:18923161 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 5625
• Gene Name: proline dehydrogenase 1
• Gene Aliases: HSPOX2, PIG6, POX, PRODH1, PRODH2, TP53I6
• Location: Chr.22:18912774-18936553 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRODH	NM_001195226.1			NP_001182155.1
	NM_016335.4			NP_057419.4
	BC118597.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv32687	Chr.22:18158909 - 19022965 on Build GRCh38	Gain+Loss	LOC100996401 DGCR5 FAM230A LOC102725072 LOC729461 PI4KAP1 LOC100996415 RIMBP3 LOC642643 USP18 DGCR10 GGT3P DGCR9 DGCR6 PRODH TMEM191B LOC100996432
dgv7977n54	Chr.22:18913491 - 19020595 on Build GRCh38	Gain	DGCR5 DGCR9 PRODH
dgv4472n100	Chr.22:18888903 - 19037700 on Build GRCh38	Loss	DGCR5 DGCR10 DGCR9 DGCR2 DGCR6 PRODH LOC100996432
nsv953020	Chr.22:18899988 - 18938787 on Build GRCh38	Deletion	DGCR6 PRODH
esv3584483	Chr.22:18782908 - 19018612 on Build GRCh38	Gain	DGCR5 GGT3P DGCR9 LOC102725072 DGCR6 PRODH LOC100996432
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	LOC100996401 DGCR5 FAM230A LOC102725072 DGCR2 LOC729461 PI4KAP1 LOC100996415 RIMBP3 LOC642643 USP18 DGCR10 GGT3P DGCR9 DGCR6 PRODH TMEM191B LOC100996432
nsv588155	Chr.22:18795358 - 19020595 on Build GRCh38	Gain	DGCR5 DGCR9 LOC102725072 DGCR6 PRODH LOC100996432
dgv542n27	Chr.22:18890274 - 19020595 on Build GRCh38	Loss	DGCR5 DGCR9 DGCR6 PRODH LOC100996432
nsv1063432	Chr.22:18902533 - 18929331 on Build GRCh38	Loss	DGCR6 PRODH
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	LOC100996401 DGCR5 FAM230A LOC102725072 DGCR2 LOC729461 PI4KAP1 LOC100996415 RIMBP3 LOC642643 USP18 DGCR10 GGT3P DGCR9 DGCR6 PRODH TMEM191B LOC100996432
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	DGCR5 DGCR10 DGCR9 DGCR2 DGCR6 PRODH LOC100996432
dgv1283e212	Chr.22:18166100 - 19017223 on Build GRCh38	Gain	LOC100996401 DGCR5 FAM230A LOC102725072 LOC729461 PI4KAP1 LOC100996415 RIMBP3 LOC642643 USP18 GGT3P DGCR6 PRODH TMEM191B LOC100996432
dgv99e203	Chr.22:18173093 - 19019471 on Build GRCh38	Gain+Loss	LOC100996401 DGCR5 FAM230A LOC102725072 LOC729461 PI4KAP1 LOC100996415 RIMBP3 LOC642643 USP18 GGT3P DGCR9 DGCR6 PRODH TMEM191B LOC100996432
dgv4476n100	Chr.22:18899376 - 19019471 on Build GRCh38	Gain	DGCR5 DGCR9 DGCR6 PRODH
nsv442503	Chr.22:18822597 - 19018611 on Build GRCh38	Gain	DGCR5 DGCR9 LOC102725072 DGCR6 PRODH LOC100996432
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	LOC100996401 PEX26 DGCR5 FAM230A LOC102725072 DGCR2 LOC729461 TUBA8 PI4KAP1 LOC100996415 RIMBP3 LOC642643 USP18 DGCR10 GGT3P DGCR9 DGCR11 DGCR6 PRODH TMEM191B LOC100996432
esv3893432	Chr.22:18750783 - 19029150 on Build GRCh38	Gain	LOC642643 DGCR5 DGCR10 GGT3P DGCR9 LOC102725072 DGCR6 PRODH LOC100996432
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	LOC100996401 DGCR5 FAM230A LOC102725072 DGCR2 LOC729461 PI4KAP1 LOC100996415 RIMBP3 LOC642643 USP18 DGCR10 GGT3P DGCR9 DGCR11 DGCR6 PRODH TMEM191B LOC100996432
dgv4467n100	Chr.22:18166204 - 19019471 on Build GRCh38	Gain	LOC100996401 DGCR5 FAM230A LOC102725072 LOC729461 PI4KAP1 LOC100996415 RIMBP3 LOC642643 USP18 GGT3P DGCR9 DGCR6 PRODH TMEM191B LOC100996432
dgv42e213	Chr.22:18888915 - 19019471 on Build GRCh38	Gain	DGCR5 DGCR9 DGCR6 PRODH LOC100996432
dgv169n111	Chr.22:18745406 - 19019471 on Build GRCh38	Duplication	LOC642643 DGCR5 GGT3P DGCR9 LOC102725072 DGCR6 PRODH LOC100996432
dgv4469n100	Chr.22:18760915 - 19037281 on Build GRCh38	Gain	DGCR5 DGCR10 GGT3P DGCR9 LOC102725072 DGCR2 DGCR6 PRODH LOC100996432
dgv7975n54	Chr.22:18901977 - 19029150 on Build GRCh38	Loss	DGCR5 DGCR10 DGCR9 DGCR6 PRODH
nsv588201	Chr.22:18922407 - 18959084 on Build GRCh38	Loss	PRODH
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR5 DGCR10 DGCR9 DGCR2 DGCR11 DGCR6 PRODH
esv3584485	Chr.22:18806434 - 18964032 on Build GRCh38	Gain	LOC102725072 DGCR6 PRODH LOC100996432
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	DGCR5 DGCR10 DGCR9 LOC102725072 DGCR2 DGCR11 DGCR6 PRODH LOC100996432
nsv1160726	Chr.22:18899868 - 19019471 on Build GRCh38	Duplication	DGCR5 DGCR9 DGCR6 PRODH
nsv979632	Chr.22:18908034 - 18929580 on Build GRCh38	Duplication	DGCR6 PRODH
esv22247	Chr.22:18174171 - 18937942 on Build GRCh38	Gain+Loss	LOC100996401 FAM230A LOC102725072 LOC729461 PI4KAP1 LOC100996415 RIMBP3 LOC642643 USP18 GGT3P DGCR6 PRODH TMEM191B LOC100996432
dgv7976n54	Chr.22:18903102 - 18988074 on Build GRCh38	Gain	DGCR5 DGCR6 PRODH
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	DGCR5 LOC102725072 LOC729461 DGCR14 TSSK2 C22orf39 COMT RIMBP3 UFD1L CLTCL1 DGCR9 SEPT5-GP1BB CLDN5 PRODH LOC100996432 LOC100996401 MRPL40 HIRA FAM230A DGCR2 LINC00895 GNB1L PI4KAP1 SLC25A1 LOC100996415 TXNRD2 LOC642643 TBX1 LINC01311 USP18 DGCR10 GGT3P MIR4761 GP1BB SEPT5 CDC45 DGCR11 DGCR6 GSC2 C22orf29 TMEM191B

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidase

Gene Ontology Categories:

Process(es)

proline metabolic process
proline catabolic process
intrinsic apoptotic signaling pathway in response to oxidative stress
proline catabolic process to glutamate
positive regulation of cell death
4-hydroxyproline catabolic process
oxidation-reduction process

Function(s)

proline dehydrogenase activity
FAD binding