| General information of RDP00141 | |
|---|---|
| Gene Symbol: | BRD4 |
| RefSeq ID: | NM_001330384 |
| Repeat coordinate: | chr19:15332502-15332529 (-) |
| Repeat size: | 9 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.468; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Cornelia de Lange Syndrome 1 | NM_001330384 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
15332501
rs778524619
AGCCGCCGCCGCCGCCGCC
AGCCGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCCGCCGCC,AGCCGCCGCC,A,AGCCGCCGCCGCCGCC
5840004.49
19
15332503
.
CCGCCGCCGCCGCCGCCGCCGCCGCCGCCAGCGCACTGACGTCACCGCGCACGCTGCGCGCGCGGCCCCG
C
470565.91
19
15332505
.
G
A
335873.76
19
15332508
.
G
GCCGCCA
323470.16
19
15332509
.
CCGCCGCCGCCGCCGCCGCCGCCAGCGCACTGACGTCACCGCGCACGCTGCGCGCGCGGCCCCG
C
323414.69
19
15332511
.
G
GCCGCCT
87095.25
19
15332512
.
CCGCCGCCGCCGCCGCCGCCAGCGCACTGACGTCACCGCGCACGCTGCGCGCGCGGCCCCG
C
87002.32
19
15332516
.
C
CGCCGCCGCT
81185.49
19
15332518
.
CCGCCGCCGCCGCCAGCGCACTGACGTCACCGCGCACGCTGCGCGCGCGGCCCCG
C
70051.16
19
15332524
.
C
CCGCCGCCGCCAG
1204.19
19
15332529
.
G
GCCC
1489.62
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
19
15332501
.
AGCC
A,AGCCGCC,AGCCGCCGCC
.
19
15332501
.
AGCCGCC
A
.
19
15332501
.
AGCCGCCGCC
A,AGCCGCCGCCGCC
.
19
15332501
.
AGCCGCCGCCGCCGCC
A,AGCCGCCGCCGCCGCCGCC
.
19
15332501
.
AGCCGCCGCCGCCGCCGCC
A
.