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 | 3 | 376 | NP_001010926.1 |
XM_005244751.4 | 2 | 781 | XP_005244808.1 | |
BC087840.1 | 1 | 571 | AAH87840.1 | |
DQ272660.1 | 3 | 376 | 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 | TNFRSF14 PEX10 RER1 LOC100129534 SKI PANK4 LOC115110 MORN1 HES5 PLCH2 |
nsv823920 | Chr.1:2482305 - 2552402 on Build GRCh38 | Gain | PANK4 LOC115110 HES5 PLCH2 |
nsv818222 | Chr.1:2492683 - 2553994 on Build GRCh38 | Loss | PANK4 LOC115110 HES5 PLCH2 |
nsv545080 | Chr.1:2464013 - 2553994 on Build GRCh38 | Loss | PANK4 LOC115110 HES5 PLCH2 |
nsv545076 | Chr.1:2428542 - 2535194 on Build GRCh38 | Gain | PANK4 HES5 PLCH2 |
nsv470684 | Chr.1:2394570 - 2930923 on Build GRCh38 | Loss | TNFRSF14 PEX10 RER1 PANK4 LOC115110 FAM213B HES5 MMEL1 PLCH2 LOC100996583 TTC34 |
nsv824031 | Chr.1:2520800 - 2551658 on Build GRCh38 | Gain | PANK4 LOC115110 HES5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |