Assay Details
Target Gene Details
Entrez Gene ID: | 5307 |
Gene Name: | paired like homeodomain 1 |
Gene Aliases: |
BFT, CCF, LBNBG, POTX, PTX1 |
Location: |
Chr.5:135027734-135034274 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PITX1 | NM_002653.4 | NP_002644.4 | ||
AK290635.1 | ||||
AL578756.2 | ||||
BC003685.1 | AAH03685.1 | |||
BC009412.1 | AAH09412.1 | |||
BX362641.2 | ||||
KJ534918.1 | ||||
U70370.1 | AAC51126.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv823239 | Chr.5:135019535 - 135071110 on Build GRCh38 | Gain | C5orf66-AS1 PITX1 C5orf66 |
nsv830495 | Chr.5:135024595 - 135204207 on Build GRCh38 | Loss | C5orf66-AS1 PITX1 C5orf66 |
nsv823243 | Chr.5:135027426 - 135033388 on Build GRCh38 | Gain | PITX1 C5orf66 |
nsv823240 | Chr.5:135020631 - 135043367 on Build GRCh38 | Gain | C5orf66-AS1 PITX1 C5orf66 |
dgv969n67 | Chr.5:135018061 - 135059172 on Build GRCh38 | Gain | C5orf66-AS1 PITX1 C5orf66 |
nsv599744 | Chr.5:135012266 - 135070292 on Build GRCh38 | Loss | C5orf66-AS1 PITX1 C5orf66 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |