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