Assay Details
Target Gene Details
Entrez Gene ID: | 2192 |
Gene Name: | fibulin 1 |
Gene Aliases: |
FBLN, FIBL1 |
Location: |
Chr.22:45502839-45601134 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FBLN1 | NM_001996.3 | NP_001987.2 | ||
NM_006485.3 | NP_006476.2 | |||
NM_006486.2 | NP_006477.2 | |||
NM_006487.2 | NP_006478.2 | |||
AF126110.1 | AAK37822.1 | |||
AF217999.1 | AAG17241.1 | |||
AK075460.1 | ||||
AK075566.1 | BAC11705.1 | |||
AK300806.1 | ||||
AK316291.1 | ||||
BC022497.1 | AAH22497.1 | |||
BX424750.2 | ||||
BX443677.2 | ||||
U01244.1 | AAB17099.1 | |||
X53741.1 | CAA37770.1 | |||
X53742.1 | CAA37771.1 | |||
X53743.1 | CAA37772.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1160778 | Chr.22:45434859 - 45758018 on Build GRCh38 | Duplication | FBLN1 LINC01589 ATXN10 |
nsv1066204 | Chr.22:45254728 - 45870451 on Build GRCh38 | Gain | FBLN1 SMC1B LINC01589 ATXN10 UPK3A RIBC2 FAM118A LOC105373065 MIR4762 |
nsv834221 | Chr.22:45383909 - 45578311 on Build GRCh38 | Loss | FBLN1 SMC1B RIBC2 |
esv3647931 | Chr.22:45382351 - 45517601 on Build GRCh38 | Gain | FBLN1 SMC1B RIBC2 |
esv34218 | Chr.22:45254944 - 45515710 on Build GRCh38 | Gain | FBLN1 SMC1B UPK3A RIBC2 FAM118A LOC105373065 |
nsv9921 | Chr.22:45247876 - 45514132 on Build GRCh38 | Gain+Loss | FBLN1 SMC1B UPK3A RIBC2 FAM118A LOC105373065 |
esv2758843 | Chr.22:45178343 - 45529286 on Build GRCh38 | Gain | FBLN1 SMC1B MIR1249 KIAA0930 NUP50 UPK3A RIBC2 FAM118A LOC105373065 |
esv3647921 | Chr.22:45247581 - 45517162 on Build GRCh38 | Gain | FBLN1 SMC1B UPK3A RIBC2 FAM118A LOC105373065 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |