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 | OCLN LOC101928924 |
nsv1034024 | Chr.5:69464444 - 69822296 on Build GRCh38 | Gain | GUSBP3 GTF2H2C LOC728488 OCLN LOC101928924 |
nsv821643 | Chr.5:69272838 - 71076658 on Build GRCh38 | Loss | CDK7 LOC441081 MARVELD2 SERF1B LOC647859 SMA4 SMA5 GUSBP3 LOC728526 LOC728488 RAD17 SERF1A AK6 LOC107986354 LOC107986351 OCLN SMN2 LOC101928924 LOC101929599 GTF2H2 TAF9 LOC653080 CCDC125 SMN1 GTF2H2C NAIP GTF2H2B |
nsv1023116 | Chr.5:69448480 - 69571455 on Build GRCh38 | Gain | GTF2H2C OCLN LOC101928924 |
nsv428117 | Chr.5:69347454 - 71500057 on Build GRCh38 | Gain+Loss | LOC441081 BDP1 MARVELD2 SERF1B GUSBP9 PMCHL2 LOC647859 SMA4 SMA5 GUSBP3 LOC107986352 LOC728526 LOC728488 RAD17 SERF1A AK6 LOC102724392 LOC107986354 LOC107986353 LOC107986351 OCLN SMN2 LOC101928924 LOC101929599 GTF2H2 TAF9 LOC653080 SMN1 GTF2H2C NAIP GTF2H2B |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |