Assay Details
Target Gene Details
Entrez Gene ID: | 4054 |
Gene Name: | latent transforming growth factor beta binding protein 3 |
Gene Aliases: |
DASS, LTBP-3, LTBP2, STHAG6, pp6425 |
Location: |
Chr.11:65538559-65558388 on Build GRCh38 |
Assay Gene Location: | Within Exon 29 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LTBP3 | NM_001130144.2 | 28 | 4624 | NP_001123616.1 |
NM_001164266.1 | 27 | 4479 | NP_001157738.1 | |
NM_021070.4 | 27 | 4483 | NP_066548.2 | |
XM_011545032.2 | 28 | 4806 | XP_011543334.1 | |
XM_011545033.2 | 27 | 4664 | XP_011543335.1 | |
AF318354.1 | 26 | 3655 | AAL55861.1 |
Target Gene Details
Entrez Gene ID: | 57410 |
Gene Name: | SCY1 like pseudokinase 1 |
Gene Aliases: |
GKLP, HT019, NKTL, NTKL, P105, SCAR21, TAPK, TEIF, TRAP |
Location: |
Chr.11:65525065-65538711 on Build GRCh38 |
Assay Gene Location: | Within Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SCYL1 | NM_001048218.1 | 18 | 2524 | NP_001041683.1 |
NM_020680.3 | 18 | 2575 | NP_065731.3 | |
XM_005274118.3 | 18 | 2584 | XP_005274175.1 | |
XM_005274120.3 | 17 | 2532 | XP_005274177.1 | |
XM_005274121.3 | 17 | 2529 | XP_005274178.1 | |
XM_017018029.1 | 16 | 2760 | XP_016873518.1 | |
XM_017018030.1 | 18 | 2533 | XP_016873519.1 | |
XM_017018031.1 | 17 | 2481 | XP_016873520.1 | |
XM_017018032.1 | 16 | 2602 | XP_016873521.1 | |
XM_017018033.1 | 18 | 2528 | XP_016873522.1 | |
AB047077.1 | 17 | 2195 | BAB55454.1 | |
AB051427.1 | 18 | 2498 | BAB55458.1 | |
AB051428.1 | 18 | 2447 | BAB55459.1 | |
AF225424.1 | 12 | 1596 | AAG09726.1 | |
AF297709.1 | 18 | 2497 | AAG17902.1 | |
BC009967.2 | 11 | 1518 | AAH09967.2 | |
BC069233.1 | 18 | 2539 | AAH69233.1 | |
BU728709.1 | 1 | 93 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv555212 | Chr.11:65535422 - 65540385 on Build GRCh38 | Loss | SCYL1 LTBP3 |
esv2671903 | Chr.11:65538274 - 65540821 on Build GRCh38 | Deletion | SCYL1 LTBP3 |
nsv951018 | Chr.11:65525430 - 65662029 on Build GRCh38 | Deletion | EHBP1L1 SIPA1 KCNK7 RELA MIR4489 SSSCA1-AS1 MAP3K11 PCNX3 SCYL1 FAM89B SSSCA1 MIR4690 LTBP3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |