Assay Details
Target Gene Details
Entrez Gene ID: | 388585 |
Gene Name: | hes family bHLH transcription factor 5 |
Gene Aliases: |
bHLHb38 |
Location: |
Chr.1:2528745-2530554 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HES5 | NM_001010926.3 | 2 | 206 | NP_001010926.1 |
XM_005244751.4 | 2 | 515 | XP_005244808.1 | |
BC087840.1 | 1 | 305 | AAH87840.1 | |
DQ272660.1 | 2 | 206 | ABB83829.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv951557 | Chr.1:2266062 - 2564661 on Build GRCh38 | Deletion | LOC115110 TNFRSF14 PEX10 HES5 SKI PANK4 LOC100129534 MORN1 RER1 PLCH2 |
nsv823920 | Chr.1:2482305 - 2552402 on Build GRCh38 | Gain | LOC115110 HES5 PANK4 PLCH2 |
nsv818222 | Chr.1:2492683 - 2553994 on Build GRCh38 | Loss | LOC115110 HES5 PANK4 PLCH2 |
nsv545080 | Chr.1:2464013 - 2553994 on Build GRCh38 | Loss | LOC115110 HES5 PANK4 PLCH2 |
nsv545076 | Chr.1:2428542 - 2535194 on Build GRCh38 | Gain | HES5 PANK4 PLCH2 |
nsv470684 | Chr.1:2394570 - 2930923 on Build GRCh38 | Loss | LOC115110 TNFRSF14 PEX10 HES5 LOC100996583 PANK4 TTC34 RER1 MMEL1 PLCH2 FAM213B |
nsv824031 | Chr.1:2520800 - 2551658 on Build GRCh38 | Gain | LOC115110 HES5 PANK4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |