Assay Details
Target Gene Details
Entrez Gene ID: | 5308 |
Gene Name: | paired like homeodomain 2 |
Gene Aliases: |
ARP1, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS |
Location: |
Chr.4:110617423-110642123 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PITX2 | NM_000325.5 | 3 | 1596 | NP_000316.2 |
NM_001204397.1 | 7 | 2760 | NP_001191326.1 | |
NM_001204398.1 | 5 | 1152 | NP_001191327.1 | |
NM_001204399.1 | 4 | 1014 | NP_001191328.1 | |
NM_153426.2 | 6 | 2526 | NP_700475.1 | |
NM_153427.2 | 5 | 2388 | NP_700476.1 | |
XM_011532027.2 | 4 | 2264 | XP_011530329.1 | |
AF048720.1 | 4 | 1049 | AAC39716.1 | |
AF048721.1 | 5 | 1187 | AAC39717.1 | |
AF048722.1 | 3 | 1551 | AAC39718.1 | |
AK127829.1 | 7 | 2598 | ||
AK291591.1 | 4 | 1042 | ||
AK313987.1 | ||||
BC013998.2 | 3 | 1595 | AAH13998.1 | |
BC106010.1 | 4 | 1024 | AAI06011.1 | |
U69961.1 | 5 | 1382 | AAC16257.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv830036 | Chr.4:110485346 - 110674573 on Build GRCh38 | Gain | ENPEP PITX2 |
esv2728138 | Chr.4:110565922 - 110650718 on Build GRCh38 | Deletion | PITX2 |
nsv4464 | Chr.4:110592303 - 110625964 on Build GRCh38 | Insertion | PITX2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |