| General information of RDP00024 | |
|---|---|
| Gene Symbol: | BCL11A |
| RefSeq ID: | NM_018014 |
| Repeat coordinate: | chr2:60553288-60553315 (-) |
| Repeat size: | 9 |
| Repeat region: | 5' UTR |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 1.000; 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 |
| Dias-Logan syndrome, 617101 (3) | 606557 | 2p16.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN | NM_018014 | 0.60 | 2 | 9 | CTD_human;UNIPROT |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
60553286
.
GGGC
G
.
2
60553309
.
GC
G
.
2
60553313
.
CG
C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
60553286
rs756841789
GGGCGGCGGCGGCGGC
GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,GGGCGGCGGC,GGGCGGC,G
3832757.44
2
60553290
rs758473722
GGC
G,AGC
465273.86
2
60553293
rs777847470
G
T
173361.01
2
60553294
.
G
A
173755.77
2
60553295
.
C
A,T
173440.19
2
60553296
.
G
T
44862.63
2
60553297
.
G
T
44775.07
2
60553299
rs747539514
G
A,T
12507.31
2
60553302
.
G
C
894.01
2
60553305
.
G
T
580.59
2
60553308
.
GGC
G
151.21
2
60553310
.
C
T
390.55
2
60553311
rs771441974
G
A
310.88
2
60553313
.
CG
C
328.12
2
60553315
rs747470353
GGCGGACGA
G,TGCGGACGA
2096.86
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
60553286
rs756841789
GGGCGGCGGC
GGGCGGC,GGGCGGCGGCGGCGGC,GGGCGGCGGCGGC,G,GGGC,GGGCGGCGGCGGCGGCGGC
221364.29
2
60553309
.
G
GCGGCGT
541.52
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
60553286
rs748538213
GGGC
G
.
2
60553286
rs779394690
GGGCGGC
G
.
2
60553286
rs750752454
GGGCGGCGGC
G,GGGCGGC,GGGCGGCGGCGGC,GGGCGGCGGCGGCGGC
.
2
60553286
rs780722572
GGGCGGCGGCGGCGGC
G,GGGCGGC,GGGCGGCGGC,GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC
.
2
60553287
.
GGCGGCGGCGGC
GGC
.
2
60553290
rs758473722
G
A
.
2
60553293
rs777847470
G
T
.
2
60553295
.
CGG
CGGC
.
2
60553297
.
G
T
.
2
60553299
rs747539514
G
A
.
2
60553311
rs771441974
G
A
.
2
60553315
rs747470353
GGCGGACGA
G
.