| General information of RDP00357 | |
|---|---|
| Gene Symbol: | HCN1 |
| RefSeq ID: | NM_021072 |
| Repeat coordinate: | chr5:45695872-45695890 (-) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.944; 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 |
| Epileptic encephalopathy, early infantile, 24, 615871 (3) | 602780 | 5p12 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| X-linked infantile spasms | NM_021072 | 0.32 | 1 | 0 | CTD_human |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
45695884
.
GCCGCCGCCA
G
100
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
45695870
241373
TCGCCGC
T
.
5
45695870
193441
TCGCCGCCGC
T
.
5
45695870
461368
TCGCCGCCGCCGCCGCCGCCGCCAC
T
.
5
45695878
461367
G
GCCGCCGCCGCCGCCACCGCCGCCA
.
5
45695884
461369
G
A
.
5
45695884
412768
G
GCCGCCGCCA
.
5
45695884
95999
GCCGCCGCCA
G
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
45695884
~rs55852304
GCCGCCGCCA
G
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
45695870
rs772936800
TCGCCGCCGCCGCCGCCGCCGCCAC
TCGCCGCCGCCGCCGCCGCCAC,TCGCCGCCGCCGCCAC,TCGCCGCCGCCGCCGCCAC,TCGCCGCCGCCGCCGCCGCCGCCGCCAC,TCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCAC,T
1646149.50
5
45695873
.
C
T
1617348.86
5
45695874
rs747284102
C
G
1258147.03
5
45695875
rs774065762
GCCGCCGCCGCCGCCGCCA
G
1253637.76
5
45695877
.
CG
C
566402.65
5
45695878
.
G
A
566336.22
5
45695879
.
C
T
566178.20
5
45695881
rs759116275
GCCGCCGCCGCCA
G
65740.76
5
45695882
.
C
T
65695.84
5
45695883
rs771362022
C
T
49704.94
5
45695884
rs776945978
GCCGCCGCCA
G,GCCGCCGCCACCGCCGCCA
3712573.93
5
45695885
.
C
T
3709389.48
5
45695887
.
G
A
3715940.05
5
45695889
.
C
T
3707130.48
5
45695890
.
GCCA
ACCA,G
3715220.79
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
45695870
rs772936800
TCGCCGCCGC
TCGC,TCGCCGC,T,TCGCCGCCGCCGCCGCCGC,TCGCCGCCGCCGC,TCGCCGCCGCCGCCGC
87433.92
5
45695875
rs774065762
GCCGCCGCCGCCGCCGCCA
G
77326.81
5
45695884
rs776945978
GCCGCCGCCA
G,GCCGCCGCCACCGCCGCCA,GCCGCCGCCACCGCCGCCACCGCCGCCA
378314.68
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
45695870
rs781102314
TCGC
T
.
5
45695870
rs56063136
TCGCCGC
T
.
5
45695870
rs56060059
TCGCCGCCGC
T
.
5
45695870
rs748849525
TCGCCGCCGCCGCCGCCGCCGCCAC
T
.
5
45695874
rs747284102
C
G
.
5
45695875
rs774065762
GCCGCCGCCGCCGCCGCCA
G
.
5
45695881
.
GCCG
C
.
5
45695881
rs759116275
GCCGCCGCCGCCA
G
.
5
45695883
rs771362022
C
G
.
5
45695884
rs776945978
G
GCCGCCGCCA
.
5
45695884
rs56064803
GCCGCCGCCA
G
.