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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CEL | NM_001807.4 | 4 | 491 | NP_001798.2 |
AF081673.1 | 3 | 406 | AAC71012.1 | |
AK299965.1 | 4 | 368 | ||
BC042510.1 | 4 | 476 | AAH42510.1 | |
M85201.1 | 4 | 483 | AAA52014.1 | |
S79774.1 | 4 | 485 | AAB35488.2 | |
X54457.1 | 4 | 556 | 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 | RPL7A MIR3689C SPACA9 AK8 MIR3689D1 COL5A1 SNORD36C PPP1R26 TMEM8C OBP2B SNORD24 CACFD1 SNORD141A LOC401557 REXO4 ADAMTSL2 LOC100130548 MIR6877 VAV2 FCN1 ADAMTS13 STKLD1 SNORD36A C9orf62 LOC101448202 SARDH RXRA MIR3689E CEL DBH PPP1R26-AS1 GBGT1 FCN2 LCN1 TSC1 SURF6 SURF2 MIR3689A MED22 MIR4669 DBH-AS1 MIR548AW MIR3689D2 MIR3689B ABO LOC101928193 MIR3689F LOC105376306 GFI1B BRD3 CELP COL5A1-AS1 FAM163B RALGDS LOC100996574 GTF3C5 MRPS2 SLC2A6 OLFM1 LINC00094 LOC101928525 WDR5 SNORD36B C9orf116 SURF1 RNU6ATAC SURF4 |
nsv1161913 | Chr.9:133059798 - 133090275 on Build GRCh38 | Duplication | CELP LOC100996574 CEL |
nsv6746 | Chr.9:133044293 - 133068877 on Build GRCh38 | Insertion | LOC100996574 GTF3C5 MIR6877 CEL |
nsv615596 | Chr.9:133030314 - 133080285 on Build GRCh38 | Loss | LOC100996574 GTF3C5 MIR6877 LOC105376306 CEL |
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 GTF3C5 CEL |
esv2764128 | Chr.9:133061625 - 133082053 on Build GRCh38 | Gain+Loss | CEL |
nsv831744 | Chr.9:132980050 - 133174043 on Build GRCh38 | Gain+Loss | GFI1B CELP SNORD141A RALGDS LOC100996574 GTF3C5 MIR6877 GBGT1 LOC105376306 CEL |
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 GTF3C5 CEL |
nsv508564 | Chr.9:133013830 - 133073076 on Build GRCh38 | Deletion | SNORD141A LOC100996574 GTF3C5 MIR6877 LOC105376306 CEL |
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 |