| General information of RDP00178 | |
|---|---|
| Gene Symbol: | BCR |
| RefSeq ID: | NM_004327 |
| Repeat coordinate: | chr22:23180572-23180590 (+) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.003; 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 |
| Leukemia, chronic myeloid, somatic, 608232 (3) | 151410 | 22q11.23 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Chromosome 22q11.2 Deletion Syndrome, Distal | NM_004327 | 0.30 | 0 | 0 | ORPHANET |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
23180572
.
GCGGCGGCGGCGGCGGCGGCA
G,CCGGCGGCGGCGGCGGCGGCA
136515.26
22
23180573
.
C
CGGA,A
190322.69
22
23180575
.
GCGGCGGCGGCGGCGGCA
G,ACGGCGGCGGCGGCGGCA
137780.11
22
23180578
.
GCGGCGGCGGCGGCA
G
106031.16
22
23180579
.
C
CGGCGGCGGG
140215.20
22
23180580
.
G
A
343781.55
22
23180581
.
GCGGCGGCGGCA
G
278975.46
22
23180583
rs867644920
G
A
686077.35
22
23180584
.
GCGGCGGCA
G
652435.53
22
23180585
.
C
A
654062.34
22
23180586
.
G
GGCA,A
726627.38
22
23180587
.
GCGGCA
G
690257.01
22
23180589
rs866563446
G
A
897081.50
22
23180590
rs796688570
GCA
G
1330416.90
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
23180571
.
GGCGGCGGCGGCGGCGGCGGCACG
GGCGGCGGCGGCGGCGGCGGCAGCG
.
22
23180573
.
CGGCGGCGGCGGCGGCGGCACGGCGGCGGCGGGGCTGTGGG
CGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGGGCTGTGGG
.
22
23180574
.
GGCGGCGGCGGCGGCGGCACGG
GGCGGCGGCGGCGGCGGCGG
.
22
23180576
.
CGGCGGCGGCGGCGGCA
CGGCGGCGGCGGCGGCAG
.
22
23180577
.
GGCGGCGGCGGCGGCA
GGCGGCGGCGGCGGCAG
.
22
23180578
.
GCGGCGGCGGCGGCA
GCGGCAG
.
22
23180579
.
CGGCGGCGGCGGCA
CAG,CGGCGGCGGCGGCAG
.
22
23180580
.
G
A
.
22
23180580
.
GGCGGCGGCGGCA
AG
.
22
23180580
.
GGCGGCGGCGGCACG
AGCG
.
22
23180580
.
GGCGGCGGCGGCACGGCG
GGCAGCGGCG
.
22
23180581
.
GCGGCGGCGGCA
GCAG,GCGGCGGCGGCAG,G
.
22
23180583
.
G
A
.
22
23180583
.
GGCGGCGGCA
AG,GGCGGCGGCAG
.
22
23180583
.
GGCGGCGGCACG
AGCG,GGCGGCGGCAGCG
.
22
23180584
.
GCGGCGGCA
GCGGCGGCAG
.
22
23180584
.
GCGGCGGCACG
GCGGCGGCAGCG
.
22
23180584
.
GCGGCGGCA
GCGGCGGCAG,GCGGCGGCGGCGGCAA,G
.
22
23180586
.
GGCGGCA
GGCGGCAG
.
22
23180586
.
GGCGGCAC
GGCGGCAGC
.
22
23180586
.
GGCGGCACG
GGCGGCAGCG
.
22
23180586
.
GGCGGCACGGC
GGCGGCAGCGGC
.
22
23180587
.
GCGGCA
GCGGCAG
.
22
23180587
.
G
GC
.
22
23180587
.
GCGGCA
GCAG,GCGGCAG,G
.
22
23180588
.
CGGCACG
CGGCAGCG
.
22
23180588
.
CGGCACGGCGGCG
CGGCAGCGGCGGCG
.
22
23180589
.
G
A
.
22
23180589
.
GGCA
AG,GG,GGCAG
.
22
23180589
.
GGCAC
GGCAGC
.
22
23180589
.
GGCACG
AGCG,GGCAGCG
.
22
23180589
.
GGCACGGCG
AGCGGCG,GGCAGCGGCG
.
22
23180590
.
GCA
G,GCAG
.
22
23180590
rs796688570
GCA
GCAG,GCGGCAA,GCGGCGGCAA,G
.