Genomic Map
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Target Gene Details
Entrez Gene ID: | 10243 |
Gene Name: | gephyrin |
Gene Aliases: |
GEPH, GPH, GPHRYN, HKPX1, MOCODC |
Location: |
Chr.14:66507407-67735831 on Build GRCh38 |
Assay Gene Location: | Within Intron 30 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| GPHN | XM_017020925.1 | XP_016876414.1 |
Target Gene Details
Entrez Gene ID: | 5283 |
Gene Name: | phosphatidylinositol glycan anchor biosynthesis class H |
Gene Aliases: |
GPI-H |
Location: |
Chr.14:67589306-67600302 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PIGH | NM_004569.3 | 4 | 1222 | NP_004560.1 |
| XM_011536838.2 | 5 | 1342 | XP_011535140.1 | |
| XM_017021371.1 | 5 | 1343 | XP_016876860.1 | |
| XM_017021372.1 | 4 | 1212 | XP_016876861.1 | |
| AI633958.1 | 1 | 218 | ||
| BC004100.2 | AAH04100.1 | |||
| BC071849.1 | 4 | 1170 | AAH71849.1 | |
| L19783.1 | 4 | 1185 | AAA03545.1 |
Target Gene Details
Entrez Gene ID: | 57475 |
Gene Name: | pleckstrin homology, MyTH4 and FERM domain containing H1 |
Gene Aliases: |
- |
Location: |
Chr.14:67533155-67589766 on Build GRCh38 |
Assay Gene Location: | Within Exon 29 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PLEKHH1 | NM_020715.2 | NP_065766.1 | ||
| XM_011537009.1 | XP_011535311.1 | |||
| XM_011537015.2 | XP_011535317.1 | |||
| XM_017021499.1 | XP_016876988.1 | |||
| XM_017021500.1 | XP_016876989.1 | |||
| XM_017021501.1 | XP_016876990.1 | |||
| XM_017021502.1 | XP_016876991.1 | |||
| XM_017021503.1 | XP_016876992.1 | |||
| XM_017021504.1 | 24 | 5979 | XP_016876993.1 | |
| AB033026.1 | ||||
| AK123262.1 | ||||
| AK124787.1 | 6 | 3581 | ||
| BC014159.2 | AAH14159.1 | |||
| BC146787.1 | ||||
| BX648137.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv3892557 | Chr.14:67469765 - 67613847 on Build GRCh38 | Gain |
 GPHN
TMEM229B
PLEKHH1
PIGH
|
| dgv138n21 | Chr.14:67589167 - 67591159 on Build GRCh38 | Loss |
GPHN
PLEKHH1
PIGH
|
| nsv456331 | Chr.14:67266144 - 67637063 on Build GRCh38 | Gain |
GPHN
ARG2
TMEM229B
PLEKHH1
PIGH
LOC105370541
MIR5694
ATP6V1D
HMGB1P34
MPP5
PLEK2
EIF2S1
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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