| General information of RDP00124 | |
|---|---|
| Gene Symbol: | CBFB |
| RefSeq ID: | NM_001755 |
| Repeat coordinate: | chr16:67029190-67029211 (+) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.645; 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 |
| Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626 (1) | 121360 | 16q22.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Acute Myeloid Leukemia (AML-M2) | NM_001755 | 0.30 | 2 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
67029188
rs557593884
AGGCGGCGGC
AGGC,AGGCGGCGGCGGCGGCGGC,AGGCGGC,A,AGGCGGCGGCGGCGGC,AGGCGGCGGCGGC
772690.78
16
67029198
rs554672034
G
A
229867.71
16
67029201
.
G
A
396.95
16
67029202
.
G
C
330.91
16
67029203
.
CGGCGGCGGCGTGGGTTGGGCTCGAGCG
C
1186.05
16
67029204
.
G
A
1446.03
16
67029205
.
G
A
1288.93
16
67029207
rs568086733
G
A
253233.38
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
67029188
.
AGGCGGC
A
.
16
67029188
.
AGGC
A
.
16
67029188
rs557593884
AGGCGGC
A
.
16
67029188
.
AGGCGGCGGC
A
.
16
67029188
.
AGGCGGCGGCGGC
A
.
16
67029192
.
GGCGGCG
A
.
16
67029193
.
GCG
GCA
.
16
67029197
.
C
CG
.
16
67029198
rs554672034
G
A
.
16
67029199
.
G
GC
.
16
67029203
.
C
G
.
16
67029204
.
GGC
AGA
.
16
67029207
rs568086733
G
A
.