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 OCLN LOC728488 GUSBP3 GTF2H2C |
nsv821643 | Chr.5:69272838 - 71076658 on Build GRCh38 | Loss | LOC101928924 LOC441081 SMA5 MARVELD2 SMA4 GTF2H2B GTF2H2C CCDC125 SERF1A SMN1 LOC728526 TAF9 SERF1B LOC728488 SMN2 CDK7 RAD17 AK6 LOC101929599 LOC107986351 LOC653080 LOC107986354 GUSBP3 NAIP OCLN GTF2H2 LOC647859 |
nsv1023116 | Chr.5:69448480 - 69571455 on Build GRCh38 | Gain | LOC101928924 OCLN GTF2H2C |
nsv428117 | Chr.5:69347454 - 71500057 on Build GRCh38 | Gain+Loss | LOC101928924 LOC441081 SMA5 MARVELD2 SMA4 GTF2H2B GTF2H2C SERF1A SMN1 LOC728526 TAF9 SERF1B LOC728488 SMN2 LOC107986353 RAD17 AK6 LOC101929599 LOC107986351 LOC653080 PMCHL2 LOC107986354 GUSBP3 NAIP LOC102724392 LOC107986352 OCLN GTF2H2 BDP1 GUSBP9 LOC647859 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |