| General information of RDP00029 | |
|---|---|
| Gene Symbol: | SBF1 |
| RefSeq ID: | NM_002972 |
| Repeat coordinate: | chr22:50474966-50474993 (-) |
| Repeat size: | 9 |
| Repeat region: | 5' UTR |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 0.013; 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 |
| Charcot-Marie-Tooth disease, type 4B3, 615284 (3) | 603560 | 22q13.33 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Charcot-Marie-Tooth disease type 4B3 | NM_002972 | 0.72 | 3 | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
50474965
~rs71198252
CGCG
C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
50474965
rs762266225
CGCGGCGGCGGCGGCG
CGCGGCGGCGGCG,CGCGGCGGCG,CGCGGCGGCGGCGGCGGCG,CGCGGCG,CGCG,C
3777767.06
22
50474968
.
G
T
3697143.91
22
50474969
rs756156798
G
A
98894.85
22
50474970
rs777829904
C
A
71071.34
22
50474974
.
G
A
47184.21
22
50474976
rs745867293
C
T
11291.32
22
50474978
rs779853043
G
A
6533.61
22
50474981
.
G
A
162.62
22
50474982
.
C
T,CCCA
481.26
22
50474983
rs746754162
G
A
77.88
22
50474985
.
C
T
764.42
22
50474988
.
C
A
383.22
22
50474989
.
G
GGCC,A
1806.64
22
50474990
.
G
A
203.45
22
50474991
.
C
T,A
1588.89
22
50474992
rs768203658
G
A
313.03
22
50474993
.
G
A,T
562.47
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
50474965
rs762266225
CGCGGCGGCGGCG
CGCGGCGGCG,CGCG,CGCGGCG,CGCGGCGGCGGCGGCG,C,CGCGGCGGCGGCGGCGGCG
11179055.16
22
50474977
rs758311918
G
C,A,T
102392.37
22
50474978
rs779853043
G
A
4885.37
22
50474980
.
G
A
4519.30
22
50474983
rs746754162
G
A
802.52
22
50474986
.
G
A
239.58
22
50474987
.
G
A,T
3442.24
22
50474988
.
CGG
TGG,C
2732.26
22
50474989
.
G
GGCC,A
4307.75
22
50474990
.
G
GCCC
2769.01
22
50474991
.
CG
CCCAG,C
3088.61
22
50474992
rs768203658
G
T
2302.93
22
50474993
.
G
T
308.83
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
50474961
.
GCTCCGCG
GCTCC
.
22
50474964
.
CCGCG
CC
.
22
50474965
rs71198252
CGCG
C,CGCGGCG
.
22
50474965
.
CGCGGCG
C,CGCG
.
22
50474965
rs774675125
CGCGGCGGCG
C,CGCGGCG
.
22
50474965
rs767702654
CGCGGCGGCGGCG
C,CGCG,CGCGGCGGCG,CGCGGCGGCGGCGGCG
.
22
50474965
.
CGCGGCGGCGGCGGCG
C
.
22
50474969
rs756156798
G
A
.
22
50474970
rs777829904
C
A
.
22
50474976
rs745867293
C
T
.
22
50474977
rs758311918
G
A
.
22
50474978
rs779853043
G
A
.
22
50474983
rs746754162
G
A
.
22
50474983
.
GGCGGCGGCGGCCCAGGTTC
GGCGGCGGCGGCCCAGGCTC
.
22
50474992
rs768203658
G
A
.
22
50474993
.
GCCCAGGT
GCCCAGGC
.