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