| General information of RDP00098 | |
|---|---|
| Gene Symbol: | BCL11B |
| RefSeq ID: | NM_001282237 |
| Repeat coordinate: | chr14:99271315-99271336 (-) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.977; 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 |
| Immunodeficiency 49, 617237 (3) | 606558 | 14q32.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | NM_001282237 | 0.40 | 1 | 5 | GENOMICS_ENGLAND |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
99271314
.
TGCCGCCGCC
CGCCGCCGCC,TGCC,T
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
99271288
.
AGCCGCCGCCGCGCCGCTGCCGCCGCTGCCGCCGCCGCC
A
497.28
14
99271314
rs527432064
TGCCGCCGCC
TGCCGCC,TGCCGCCGCCGCCGCCGCC,CGCCGCCGCC,TGCC,TGCCGCCGCCGCCGCC,T
77584.17
14
99271317
.
C
CGCCGCT
21962.35
14
99271323
rs866848735
C
T
10035.39
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
99271314
.
TGCCGCCGCC
CGCCGCCGCC,T,TGCC
.
14
99271314
.
TGCC
T
.
14
99271314
rs540554788
TGCCGCC
T
.
14
99271314
rs537810518
TGCCGCCGCC
T
.
14
99271314
.
TGCCGCCGCCGCCGCC
T
.
14
99271317
.
C
CGCCGCT
.
14
99271318
.
G
A
.
14
99271323
.
C
T
.
14
99271327
.
G
C
.
14
99271330
.
G
GC
.