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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OCLN | NM_001205254.1 | 3 | 335 | NP_001192183.1 |
NM_001205255.1 | NP_001192184.1 | |||
NM_002538.3 | 3 | 565 | NP_002529.1 | |
XM_017008913.1 | 3 | 335 | XP_016864402.1 | |
XM_017008914.1 | 3 | 310 | XP_016864403.1 | |
AB451306.1 | 2 | 129 | ||
AB451437.1 | 2 | 129 | ||
AK290697.1 | 3 | 297 | ||
AK313501.1 | 3 | 308 | ||
BC029886.1 | 3 | 307 | AAH29886.1 | |
DB226845.1 | 3 | 335 | ||
FJ786083.1 | ||||
FJ786084.1 | ||||
GQ225096.1 | ||||
GQ225097.1 | ||||
GQ225098.1 | 2 | 173 | ||
GQ402517.1 | 2 | 173 | ||
U49184.1 | 3 | 296 | AAC50451.1 | |
U53823.1 | 3 | 566 | 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 OCLN GUSBP3 LOC728488 LOC101928924 |
dgv5695n100 | Chr.5:69508307 - 71365369 on Build GRCh38 | Gain | SMA5 LOC653080 LOC107986353 LOC102724392 GTF2H2B LOC107986351 GTF2H2C LOC101929599 LOC728488 LOC728526 GTF2H2 LOC107986352 SERF1B SMA4 SERF1A SMN2 LOC647859 OCLN SMN1 NAIP GUSBP3 LOC441081 LOC107986354 GUSBP9 |
nsv821643 | Chr.5:69272838 - 71076658 on Build GRCh38 | Loss | SMA5 LOC653080 TAF9 RAD17 LOC101929599 SERF1B SMA4 LOC647859 NAIP GUSBP3 LOC441081 LOC107986354 LOC101928924 CDK7 GTF2H2B LOC107986351 GTF2H2C LOC728488 LOC728526 GTF2H2 SERF1A SMN2 AK6 OCLN SMN1 MARVELD2 CCDC125 |
nsv1023116 | Chr.5:69448480 - 69571455 on Build GRCh38 | Gain | GTF2H2C OCLN LOC101928924 |
nsv428117 | Chr.5:69347454 - 71500057 on Build GRCh38 | Gain+Loss | SMA5 LOC653080 LOC102724392 TAF9 RAD17 LOC101929599 SERF1B SMA4 LOC647859 BDP1 NAIP GUSBP3 LOC441081 LOC107986354 LOC101928924 GUSBP9 LOC107986353 GTF2H2B LOC107986351 GTF2H2C LOC728488 LOC728526 GTF2H2 LOC107986352 SERF1A SMN2 AK6 OCLN SMN1 MARVELD2 PMCHL2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |