Hs02567008_cn

• Gene Symbol: XAB2
• Assay Reference Genome Location: Chr.19:7629517 on build GRCh38
• Cytoband: 19p13.2

Target Gene Details

• Entrez Gene ID: 56949
• Gene Name: XPA binding protein 2
• Gene Aliases: HCNP, HCRN, NTC90, SYF1
• Location: Chr.19:7619525-7629553 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
XAB2	NM_020196.2			NP_064581.2
	AB026111.1			BAB15807.1
	AF226051.1			AAF86951.1
	AF258567.1			AAG23770.1
	AF272147.1			AAQ14304.1
	BC007208.1			AAH07208.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953958	Chr.19:7584715 - 7650814 on Build GRCh38	Deletion	CAMSAP3 PCP2 MIR6792 PET100 XAB2 STXBP2
nsv833731	Chr.19:7589114 - 7739331 on Build GRCh38	Loss	CAMSAP3 CLEC4G FCER2 PCP2 TRAPPC5 RETN MIR6792 MCEMP1 PET100 XAB2 STXBP2
nsv1060887	Chr.19:7089546 - 7861087 on Build GRCh38	Gain	PEX11G LOC107985283 EVI5L CAMSAP3 CD209 C19orf45 CLEC4M CLEC4G FCER2 PCP2 TRAPPC5 PNPLA6 LOC100128573 CLEC4GP1 MCOLN1 ZNF358 RETN INSR MIR6792 MCEMP1 ARHGEF18 PET100 XAB2 STXBP2
nsv833730	Chr.19:7509505 - 7633597 on Build GRCh38	Loss	PNPLA6 CAMSAP3 MCOLN1 ZNF358 PCP2 MIR6792 PET100 XAB2
esv2751809	Chr.19:6896369 - 7816144 on Build GRCh38	Gain	LOC107985283 CAMSAP3 C19orf45 FLJ25758 MBD3L4 LOC100128573 CLEC4GP1 MCOLN1 MBD3L3 ZNF358 LOC729458 MBD3L5 MBD3L2 ARHGEF18 PET100 XAB2 STXBP2 ADGRE4P PEX11G ZNF557 CD209 ADGRE1 CLEC4M CLEC4G FCER2 PCP2 TRAPPC5 PNPLA6 RETN INSR MIR6792 MCEMP1

More Information

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

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

generation of catalytic spliceosome for first transesterification step
mRNA splicing, via spliceosome
blastocyst development
transcription-coupled nucleotide-excision repair
transcription, DNA-templated
cerebral cortex development

Function(s)

protein binding