| General information of RDP00215 | |
|---|---|
| Gene Symbol: | EZH2 |
| RefSeq ID: | NM_001203247 |
| Repeat coordinate: | chr7:148884213-148884231 (-) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.041; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Weaver syndrome, 277590 (3) | 601573 | 7q36.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Mammary Carcinoma, Human | NM_001203247 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
148884211
.
GCGC
GCGCCGC,G,GCGCCGCCGCCGC,GCGCCGCCGC
129392.71
7
148884224
.
C
T
250.65
7
148884227
.
C
T
171.68
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
148884215
.
C
T
.
7
148884215
.
CG
TT
.
7
148884216
.
G
GC
.
7
148884225
.
G
GC
.