Assay Details
Target Gene Details
Entrez Gene ID: | 100506658 |
Gene Name: | occludin |
Gene Aliases: |
BLCPMG, PPP1R115 |
Location: |
Chr.5:69492292-69558104 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OCLN | NM_002538.3 | 1 | 262 | NP_002529.1 |
XM_017008914.1 | XP_016864403.1 | |||
U49184.1 | AAC50451.1 | |||
U53823.1 | 1 | 262 | AAB00195.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3570182 | Chr.5:69457781 - 69533508 on Build GRCh38 | Loss | LOC101928924 OCLN |
nsv1034024 | Chr.5:69464444 - 69822296 on Build GRCh38 | Gain | LOC101928924 GTF2H2C LOC728488 GUSBP3 OCLN |
nsv821643 | Chr.5:69272838 - 71076658 on Build GRCh38 | Loss | LOC441081 GTF2H2 LOC728526 GTF2H2C SMN2 SMN1 LOC728488 SMA5 CCDC125 LOC647859 LOC107986351 AK6 TAF9 NAIP OCLN RAD17 SERF1B LOC101929599 LOC653080 SMA4 CDK7 LOC107986354 LOC101928924 MARVELD2 GUSBP3 SERF1A GTF2H2B |
nsv1023116 | Chr.5:69448480 - 69571455 on Build GRCh38 | Gain | LOC101928924 GTF2H2C OCLN |
nsv428117 | Chr.5:69347454 - 71500057 on Build GRCh38 | Gain+Loss | LOC441081 GTF2H2 LOC728526 GTF2H2C SMN2 SMN1 LOC728488 SMA5 LOC647859 LOC107986351 LOC102724392 AK6 TAF9 PMCHL2 NAIP OCLN RAD17 LOC107986353 SERF1B LOC101929599 LOC653080 SMA4 LOC107986354 LOC101928924 BDP1 MARVELD2 GUSBP9 GUSBP3 SERF1A GTF2H2B LOC107986352 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |