Hs00757440_cn

• Gene Symbol: ISY1
• Assay Reference Genome Location: Chr.3:129130180 on build GRCh38
• Cytoband: 3q21.3

Target Gene Details

• Entrez Gene ID: 57461
• Gene Name: ISY1 splicing factor homolog
• Gene Aliases: FSAP33
• Location: Chr.3:129127416-129161230 on Build GRCh38
• Assay Gene Location: Overlaps Intron 11 - Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ISY1	NM_001199469.1			NP_001186398.1
	NM_020701.3			NP_065752.1
	BC004442.1			AAH04442.1
	BC007409.2			AAH07409.1
	BC019849.1			AAH19849.1

Target Gene Details

• Entrez Gene ID: 100534599
• Gene Name: ISY1-RAB43 readthrough
• Gene Aliases: -
• Location: Chr.3:129087569-129161230 on Build GRCh38
• Assay Gene Location: Overlaps Intron 10 - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ISY1-RAB43	NM_001204890.1			NP_001191819.1
	AB032986.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv591650	Chr.3:128986168 - 129177231 on Build GRCh38	Loss	CNBP EFCC1 KIAA1257 RAB43 GP9 ISY1-RAB43 ISY1

More Information

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

Panther Classification:

Molecular Function -

RNA metabolism protein, RNA processing factor, RNA splicing factor, nucleic acid metabolism protein

Gene Ontology Categories:

Process(es)

generation of catalytic spliceosome for second transesterification step
mRNA 3'-splice site recognition
mRNA splicing, via spliceosome
transcription-coupled nucleotide-excision repair

Function(s)

first spliceosomal transesterification activity
protein binding
poly(A) RNA binding