Assay Details
Target Gene Details
Entrez Gene ID: | 441054 |
Gene Name: | chromosome 4 open reading frame 47 |
Gene Aliases: |
- |
Location: |
Chr.4:185405227-185449828 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
C4orf47 | XM_017008236.1 | XP_016863725.1 | ||
XM_017008237.1 | XP_016863726.1 | |||
XM_017008238.1 | XP_016863727.1 | |||
XM_017008239.1 | XP_016863728.1 | |||
XM_017008241.1 | XP_016863730.1 | |||
XM_017008242.1 | XP_016863731.1 |
Target Gene Details
Entrez Gene ID: | 55325 |
Gene Name: | UFM1 specific peptidase 2 |
Gene Aliases: |
BHD, C4orf20 |
Location: |
Chr.4:185399540-185425985 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UFSP2 | NM_018359.3 | NP_060829.2 | ||
NR_028085.1 | ||||
AK002062.1 | BAA92064.1 | |||
AK091635.1 | ||||
BC010493.1 | AAH10493.1 | |||
BP264462.1 | ||||
CR457278.1 | CAG33559.1 | |||
DA537391.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1033523 | Chr.4:185394656 - 185473803 on Build GRCh38 | Gain | LOC105377590 C4orf47 CCDC110 LRP2BP ANKRD37 UFSP2 |
esv3603492 | Chr.4:185370615 - 185448567 on Build GRCh38 | Gain | C4orf47 CCDC110 LRP2BP ANKRD37 UFSP2 |
esv3603493 | Chr.4:185372047 - 185422056 on Build GRCh38 | Gain | C4orf47 LRP2BP ANKRD37 UFSP2 |
nsv527026 | Chr.4:185404275 - 185632326 on Build GRCh38 | Gain | SORBS2 LOC105377590 C4orf47 CCDC110 PDLIM3 UFSP2 |
esv2759309 | Chr.4:185391971 - 185553542 on Build GRCh38 | Loss | LOC105377590 C4orf47 CCDC110 LRP2BP ANKRD37 PDLIM3 UFSP2 |
nsv428456 | Chr.4:185328666 - 185492417 on Build GRCh38 | Gain+Loss | SNX25 LOC105377590 C4orf47 CCDC110 LRP2BP ANKRD37 UFSP2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |