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 | 482 | NP_003824.2 |
NM_030590.3 | 3 | 424 | NP_085080.1 | |
NM_030592.3 | 3 | 394 | NP_085095.1 | |
XM_005260597.1 | 3 | 663 | XP_005260654.1 | |
XM_017028113.1 | 4 | 482 | XP_016883602.1 | |
XM_017028114.1 | 3 | 663 | XP_016883603.1 | |
XM_017028115.1 | 3 | 663 | XP_016883604.1 | |
AJ007581.1 | 2 | 246 | CAA07569.1 | |
AK074593.1 | 4 | 482 | ||
AK074595.1 | 3 | 341 | BAC11081.1 | |
AK074597.1 | 3 | 426 | BAC11083.1 | |
BC131763.1 | 2 | 250 | ||
BC141811.1 | 3 | 412 | ||
BC151219.1 | 3 | 377 |
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 | RBPJL MATN4 |
nsv1056102 | Chr.20:44673341 - 45636248 on Build GRCh38 | Loss | STK4-AS1 EPPIN-WFDC6 MATN4 SLPI SYS1 KCNK15 WFDC5 STK4 TOMM34 WFDC10A SYS1-DBNDD2 YWHAB WFDC9 SEMG1 TP53TG5 PABPC1L WFDC8 WFDC6 RIMS4 WFDC12 WFDC2 SDC4 DBNDD2 SPINT3 PI3 RBPJL WISP2 KCNK15-AS1 MIR6812 SEMG2 KCNS1 EPPIN PIGT |
nsv1057759 | Chr.20:45283246 - 45307625 on Build GRCh38 | Gain | RBPJL MATN4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |