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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CEL | NM_001807.4 | 7 | 852 | NP_001798.2 |
AF081673.1 | 6 | 767 | AAC71012.1 | |
AK299965.1 | 7 | 729 | ||
BC042510.1 | 7 | 837 | AAH42510.1 | |
M85201.1 | 7 | 844 | AAA52014.1 | |
S79774.1 | 7 | 846 | AAB35488.2 | |
X54457.1 | 7 | 917 | 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 | PPP1R26-AS1 LCN1 SURF2 SURF1 SNORD36C SARDH MIR3689B FCN1 RALGDS FAM163B SNORD36A C9orf62 SNORD36B LOC101448202 DBH-AS1 TSC1 MIR3689A DBH CELP ABO SNORD24 C9orf116 CEL GTF3C5 VAV2 RXRA MED22 OBP2B LOC101928525 OLFM1 FCN2 LOC101928193 LOC401557 COL5A1 SURF4 TMEM8C SPACA9 SNORD141A AK8 MIR3689D2 RNU6ATAC MIR4669 COL5A1-AS1 PPP1R26 MIR3689E MIR3689F MRPS2 MIR3689D1 GFI1B MIR6877 RPL7A GBGT1 LOC100996574 MIR548AW WDR5 STKLD1 REXO4 LINC00094 ADAMTS13 CACFD1 SLC2A6 BRD3 MIR3689C LOC100130548 LOC105376306 SURF6 ADAMTSL2 |
nsv1161913 | Chr.9:133059798 - 133090275 on Build GRCh38 | Duplication | CEL LOC100996574 CELP |
nsv6746 | Chr.9:133044293 - 133068877 on Build GRCh38 | Insertion | CEL MIR6877 GTF3C5 LOC100996574 |
nsv615596 | Chr.9:133030314 - 133080285 on Build GRCh38 | Loss | CEL MIR6877 GTF3C5 LOC100996574 LOC105376306 |
nsv951795 | Chr.9:133060014 - 133070813 on Build GRCh38 | Deletion | CEL LOC100996574 |
esv3621931 | Chr.9:133063192 - 133080639 on Build GRCh38 | Loss | CEL |
esv3891731 | Chr.9:133066817 - 133082065 on Build GRCh38 | Loss | CEL |
dgv12925n54 | Chr.9:133061291 - 133082065 on Build GRCh38 | Gain | CEL LOC100996574 |
nsv819112 | Chr.9:133058467 - 133082220 on Build GRCh38 | Gain | CEL GTF3C5 LOC100996574 |
esv2764128 | Chr.9:133061625 - 133082053 on Build GRCh38 | Gain+Loss | CEL |
nsv831744 | Chr.9:132980050 - 133174043 on Build GRCh38 | Gain+Loss | GFI1B CEL MIR6877 GTF3C5 GBGT1 LOC100996574 RALGDS LOC105376306 CELP SNORD141A |
esv3573407 | Chr.9:133061226 - 133081633 on Build GRCh38 | Loss | CEL LOC100996574 |
esv2761264 | Chr.9:133054342 - 133082053 on Build GRCh38 | Loss | CEL GTF3C5 LOC100996574 |
nsv508564 | Chr.9:133013830 - 133073076 on Build GRCh38 | Deletion | CEL MIR6877 GTF3C5 LOC100996574 LOC105376306 SNORD141A |
dgv1242n67 | Chr.9:133061315 - 133084032 on Build GRCh38 | Gain | CEL LOC100996574 CELP |
nsv825138 | Chr.9:133063968 - 133081502 on Build GRCh38 | Loss | CEL |
esv3576709 | Chr.9:133060063 - 133092673 on Build GRCh38 | Gain | CEL LOC100996574 CELP |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |