| General information of RDP00325 | |
|---|---|
| Gene Symbol: | KRT10 |
| RefSeq ID: | NM_000421 |
| Repeat coordinate: | chr17:40818912-40818930 (-) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.003; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | GGGGG |
| 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 |
| Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) | 148080 | 17q21.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Keratoderma, Palmoplantar | NM_000421 | 0.45 | 2 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
40818899
.
TGCCGCCCCCGTAGCCGCCGCC
T
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
40818852
.
GCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAA
G
1786.84
17
40818884
rs763606740
TGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCC
TGCCGCCGCC,CGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCC,T
72251.29
17
40818899
rs773311306
TGCCGCCCCCGTAGCCGCCGCC
CGCCGCCCCCGTAGCCGCCGCC,TCCGCCCCCGTAGCCGCCGCC,T,TGCCGCCCCCGTAGCCGCCGCCCCCGTAGCCGCCGCC
1143902.15
17
40818900
.
GCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTT
G,ACCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTT,TCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTT,CCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTT
672552.22
17
40818906
rs370288912
CCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCA
GCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCA,TCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCA,C
722783.58
17
40818910
rs780363296
TAGCCGCCGCC
GAGCCGCCGCC,T
81415.32
17
40818911
rs759327325
AGCCGCCGCCGCC
AGCC,AGCCGCCGCC,AGCCGCCGCCGCCGCC,A,AGCTGCTGCCGCCGCCGCC
645098.34
17
40818913
rs768003171
C
A
602042.90
17
40818914
rs773883770
C
T
645237.68
17
40818915
.
G
A
365966.25
17
40818917
rs747769259
C
T
341084.28
17
40818918
rs529995365
G
A
347636.46
17
40818920
rs767238841
C
CCCCGTA
333366.50
17
40818921
rs771762056
G
T,C
317976.78
17
40818922
rs760452803
C
G
110248.99
17
40818923
rs766199650
C
A
105236.86
17
40818924
.
G
A
16839.48
17
40818925
rs776373755
C
T
18165.44
17
40818926
rs759536459
C
A,G
18852.04
17
40818929
rs764225659
C
T
16663.89
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
40818884
rs763606740
TGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCC
CGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCC,T,TGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCC,TGCCGCCGCCGGAGCTGCCGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCC
5754.62
17
40818911
rs759327325
AGCCGCCGCC
AGCCGCC,A,AGCCGCCGCCGCC,AGCTGCTGCCGCCGCC,AGCCGCCGCCGCCGCC
29702.19
17
40818913
rs768003171
C
A
11661.18
17
40818914
rs773883770
C
T
26642.60
17
40818917
rs747769259
C
T
19569.12
17
40818918
rs529995365
G
A
11668.48
17
40818920
rs767238841
C
T
9149.81
17
40818921
rs771762056
G
T
8397.47
17
40818922
rs760452803
C
G
1214.22
17
40818923
rs766199650
C
A
770.95
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
40818899
rs749525059
TGCCGCCCCCGTAGCCGCCGCC
T
.
17
40818906
rs771174062
CCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCA
C
.
17
40818911
rs759327325
AGCC
A
.
17
40818911
rs774196166
AGCCGCCGCC
A
.
17
40818913
rs768003171
C
A
.
17
40818914
rs773883770
C
T
.
17
40818917
rs747769259
C
T
.
17
40818918
rs529995365
G
A,GC
.
17
40818920
.
CG
CCC
.
17
40818920
rs767238841
C
CCCCGTA
.
17
40818921
rs771762056
G
C,T
.
17
40818922
rs760452803
C
G
.
17
40818923
rs766199650
C
A
.
17
40818925
rs776373755
C
T
.
17
40818926
rs759536459
C
A
.
17
40818927
.
G
GC
.
17
40818929
rs764225659
C
T
.