Assay Details
Target Gene Details
Entrez Gene ID: | 1056 |
Gene Name: | carboxyl ester lipase |
Gene Aliases: |
BAL, BSDL, BSSL, CELL, CEase, FAP, FAPP, LIPA, MODY8 |
Location: |
Chr.9:133061978-133071863 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CEL | NM_001807.4 | 2 | 147 | NP_001798.2 |
AF081673.1 | 1 | 62 | AAC71012.1 | |
AK299965.1 | 2 | 125 | ||
BC042510.1 | 2 | 132 | AAH42510.1 | |
M85201.1 | 2 | 139 | AAA52014.1 | |
S79774.1 | 2 | 141 | AAB35488.2 | |
X54457.1 | 2 | 212 | CAA38325.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | RNU6ATAC MIR3689D2 ADAMTS13 MIR3689B GBGT1 BRD3 MIR3689F SPACA9 LOC101448202 LOC100996574 LCN1 REXO4 CEL FCN2 COL5A1 SURF4 RALGDS PPP1R26-AS1 ADAMTSL2 FAM163B AK8 LOC401557 MRPS2 SLC2A6 GTF3C5 MIR3689C C9orf62 SNORD36A SNORD24 SARDH LOC101928525 MIR548AW LOC100130548 WDR5 SURF6 CELP RXRA LINC00094 PPP1R26 GFI1B CACFD1 MIR3689E C9orf116 LOC105376306 MIR3689A MIR4669 MIR3689D1 SNORD36B RPL7A OLFM1 TMEM8C MED22 OBP2B VAV2 COL5A1-AS1 DBH-AS1 DBH MIR6877 ABO SURF1 TSC1 SNORD141A SURF2 STKLD1 FCN1 SNORD36C LOC101928193 |
nsv1161913 | Chr.9:133059798 - 133090275 on Build GRCh38 | Duplication | CELP LOC100996574 CEL |
nsv6746 | Chr.9:133044293 - 133068877 on Build GRCh38 | Insertion | LOC100996574 CEL MIR6877 GTF3C5 |
nsv615596 | Chr.9:133030314 - 133080285 on Build GRCh38 | Loss | LOC105376306 LOC100996574 CEL MIR6877 GTF3C5 |
nsv951795 | Chr.9:133060014 - 133070813 on Build GRCh38 | Deletion | LOC100996574 CEL |
esv3621931 | Chr.9:133063192 - 133080639 on Build GRCh38 | Loss | CEL |
dgv12925n54 | Chr.9:133061291 - 133082065 on Build GRCh38 | Gain | LOC100996574 CEL |
nsv819112 | Chr.9:133058467 - 133082220 on Build GRCh38 | Gain | LOC100996574 CEL GTF3C5 |
esv2764128 | Chr.9:133061625 - 133082053 on Build GRCh38 | Gain+Loss | CEL |
nsv831744 | Chr.9:132980050 - 133174043 on Build GRCh38 | Gain+Loss | CELP LOC105376306 LOC100996574 CEL SNORD141A GBGT1 MIR6877 GTF3C5 RALGDS GFI1B |
esv3573407 | Chr.9:133061226 - 133081633 on Build GRCh38 | Loss | LOC100996574 CEL |
dgv1242n67 | Chr.9:133061315 - 133084032 on Build GRCh38 | Gain | CELP LOC100996574 CEL |
esv2761264 | Chr.9:133054342 - 133082053 on Build GRCh38 | Loss | LOC100996574 CEL GTF3C5 |
nsv508564 | Chr.9:133013830 - 133073076 on Build GRCh38 | Deletion | LOC105376306 LOC100996574 CEL SNORD141A MIR6877 GTF3C5 |
nsv825138 | Chr.9:133063968 - 133081502 on Build GRCh38 | Loss | CEL |
esv3576709 | Chr.9:133060063 - 133092673 on Build GRCh38 | Gain | CELP LOC100996574 CEL |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |