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 Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OCLN | NM_001205254.1 | NP_001192183.1 | ||
NM_002538.3 | NP_002529.1 | |||
XM_017008913.1 | XP_016864402.1 | |||
XM_017008914.1 | XP_016864403.1 | |||
AK290697.1 | ||||
AK313501.1 | ||||
BC029886.1 | AAH29886.1 | |||
DB226845.1 | ||||
U49184.1 | AAC50451.1 | |||
U53823.1 | 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 OCLN GUSBP3 LOC728488 |
nsv821643 | Chr.5:69272838 - 71076658 on Build GRCh38 | Loss | NAIP GTF2H2C CCDC125 GTF2H2 AK6 LOC441081 LOC728526 LOC653080 RAD17 CDK7 MARVELD2 LOC107986351 GUSBP3 SERF1A GTF2H2B LOC101929599 LOC101928924 LOC647859 SMN2 OCLN LOC728488 SMA4 TAF9 SMA5 SMN1 LOC107986354 SERF1B |
nsv1023116 | Chr.5:69448480 - 69571455 on Build GRCh38 | Gain | LOC101928924 GTF2H2C OCLN |
nsv428117 | Chr.5:69347454 - 71500057 on Build GRCh38 | Gain+Loss | NAIP LOC107986352 GTF2H2C BDP1 GTF2H2 GUSBP9 AK6 LOC441081 PMCHL2 LOC107986353 LOC728526 LOC653080 RAD17 MARVELD2 LOC107986351 GUSBP3 SERF1A GTF2H2B LOC101929599 LOC101928924 LOC647859 SMN2 OCLN LOC102724392 LOC728488 SMA4 TAF9 SMA5 SMN1 LOC107986354 SERF1B |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |