Hs02070423_cn

• Gene Symbol: ITPRIPL1
• Assay Reference Genome Location: Chr.2:96325574 on build GRCh38
• Cytoband: 2q11.2

Target Gene Details

• Entrez Gene ID: 150771
• Gene Name: inositol 1,4,5-trisphosphate receptor interacting protein-like 1
• Gene Aliases: KIAA1754L
• Location: Chr.2:96325324-96330507 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITPRIPL1	NM_001008949.2			NP_001008949.1
	NM_001163523.1			NP_001156995.1
	XM_017003427.1			XP_016858916.1
	BC073153.1			AAH73153.1
	CN263466.1
	CN282838.1	1	193

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834305	Chr.2:96183160 - 96353738 on Build GRCh38	Gain	LOC105373495 ITPRIPL1 STARD7 NCAPH TMEM127 CIAO1 SNRNP200 STARD7-AS1
nsv508155	Chr.2:96268957 - 96472565 on Build GRCh38	Deletion	LOC105373495 ITPRIPL1 NCAPH CIAO1 SNRNP200
dgv607e201	Chr.2:95855884 - 97561622 on Build GRCh38	Deletion	FER1L5 LMAN2L SEMA4C NCAPH TMEM127 CIAO1 KANSL3 CNNM4 LOC101927053 FAHD2CP ANKRD39 LOC107984110 ITPRIPL1 STARD7 DUSP2 ANKRD36B MIR3127 ANKRD36C ANKRD23 NEURL3 ADRA2B ARID5A LOC105373496 FAM178B CNNM3 ANKRD36 FAHD2B GPAT2 LOC100506076 LOC653924 ASTL STARD7-AS1 LOC105373495 SNRNP200 LOC100506123
nsv1135873	Chr.2:95981454 - 97579645 on Build GRCh38	Deletion	FER1L5 LMAN2L SEMA4C NCAPH TMEM127 CIAO1 KANSL3 CNNM4 LOC101927053 FAHD2CP ANKRD39 LOC107984110 ITPRIPL1 STARD7 DUSP2 ANKRD36B MIR3127 ANKRD36C ANKRD23 NEURL3 ADRA2B ARID5A LOC105373496 FAM178B CNNM3 ANKRD36 FAHD2B GPAT2 LOC100506076 LOC653924 ASTL STARD7-AS1 LOC105373495 SNRNP200 LOC100506123
esv3425717	Chr.2:95859900 - 97515905 on Build GRCh38	Duplication	FER1L5 LMAN2L SEMA4C NCAPH TMEM127 CIAO1 KANSL3 CNNM4 LOC101927053 FAHD2CP ANKRD39 LOC107984110 ITPRIPL1 STARD7 DUSP2 ANKRD36B MIR3127 ANKRD36C ANKRD23 NEURL3 ADRA2B ARID5A LOC105373496 FAM178B CNNM3 ANKRD36 FAHD2B GPAT2 LOC100506076 LOC653924 ASTL STARD7-AS1 LOC105373495 SNRNP200 LOC100506123

More Information

Additional Information:

For this assay, SNP(s) [rs77576319] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Function(s)

protein binding