Assay Details
Target Gene Details
Entrez Gene ID: | 8785 |
Gene Name: | matrilin 4 |
Gene Aliases: |
- |
Location: |
Chr.20:45293446-45308566 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MATN4 | NM_003833.4 | 4 | 397 | NP_003824.2 |
NM_030590.3 | 3 | 339 | NP_085080.1 | |
NM_030592.3 | 3 | 309 | NP_085095.1 | |
XM_005260597.1 | 3 | 578 | XP_005260654.1 | |
XM_017028113.1 | 4 | 397 | XP_016883602.1 | |
XM_017028114.1 | 3 | 578 | XP_016883603.1 | |
XM_017028115.1 | 3 | 578 | XP_016883604.1 | |
AJ007581.1 | 2 | 161 | CAA07569.1 | |
AK074593.1 | 4 | 397 | ||
AK074595.1 | BAC11081.1 | |||
AK074597.1 | 3 | 341 | BAC11083.1 | |
BC131763.1 | 2 | 165 | ||
BC141811.1 | 3 | 327 | ||
BC151219.1 | 3 | 292 | ||
DA970379.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1056815 | Chr.20:45257396 - 45314077 on Build GRCh38 | Loss | MATN4 RBPJL |
nsv1056102 | Chr.20:44673341 - 45636248 on Build GRCh38 | Loss | SYS1-DBNDD2 SEMG1 SDC4 SEMG2 STK4-AS1 KCNK15-AS1 PIGT SLPI DBNDD2 EPPIN-WFDC6 TOMM34 WFDC9 PI3 WFDC5 EPPIN KCNK15 SPINT3 KCNS1 MIR6812 WFDC6 MATN4 YWHAB WFDC10A WFDC8 WFDC2 SYS1 RIMS4 WFDC12 WISP2 PABPC1L TP53TG5 STK4 RBPJL |
nsv1057759 | Chr.20:45283246 - 45307625 on Build GRCh38 | Gain | MATN4 RBPJL |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |