| General information of RDP00049 | |
|---|---|
| Gene Symbol: | NOTCH2 |
| RefSeq ID: | NM_001200001 |
| Repeat coordinate: | chr1:120069426-120069444 (-) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.673; 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 |
| Hajdu-Cheney syndrome, 102500 (3) | 600275 | 1p12 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Mammary Carcinoma, Human | NM_001200001 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
120069423
~rs72310584
TCCTCCGCCG
T
.
1
120069426
~rs72310584
TCCGCCGCCG
T,TCCTCCGCCGCCGCCGCCGCCG,TCCTCCGCCGCCGCCGCCG,TCCTCCTCCGCCGCCGCCG,TCCGCCG
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
120069423
rs782183187
TCCTCCGCCG
T,GCCTCCGCCG,TCCG
846148.54
1
120069427
rs782327096
C
CCTCCGCCGT,T,G
1464643.98
1
120069428
.
C
CTCCGCCGCA
1240039.49
1
120069429
rs57122008
G
T,A,GCCGCCGCCA,GCCGCCA,GCCTCCTCCT
3465634.09
1
120069430
rs782235897
C
A,CCGCCGCCGA
178260.71
1
120069431
rs782378717
C
CGCT,T,CGCCGCA
171416.41
1
120069432
rs782311355
G
T,A
485862.34
1
120069433
.
C
T
40042.85
1
120069434
.
C
T
38272.13
1
120069435
rs781967473
G
GCCGCCA,T
43120.22
1
120069437
rs782424628
C
G
110504.84
1
120069438
rs781924748
G
A
1543.65
1
120069440
.
C
T
227.51
1
120069441
.
G
T,A,C,GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC
1520.69
1
120069442
.
C
G
351.70
1
120069443
.
C
T,G
808.41
1
120069444
.
G
T,A
658.49
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
120069415
rs781871115
TCGCCTCCTCCTC
TCGCCGCCTCCTCCTC,T
3233.06
1
120069423
rs782183187
TCCTCCGCCG
T,GCCTCCGCCG,TCCG
1267250.94
1
120069427
rs782327096
C
A
339164.14
1
120069429
rs57122008
G
T,GCCGCCGCCA
525963
1
120069432
rs782311355
G
T
179112.41
1
120069433
.
C
A
18727.33
1
120069434
.
C
CTCA
18458.40
1
120069435
rs781967473
G
GCCGCCA,GCCGCCT
21423.38
1
120069437
rs782424628
C
G
15695.55
1
120069438
rs781924748
G
A
250.34
1
120069441
.
G
GCCGCCGCCGCCGCCA
110.48
1
120069442
.
C
CCGT
158.91
1
120069443
.
C
T
304.53
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
120069423
rs59571254
TCCTCCGCCG
TCCTCCGCCGCCGCCGCCG,TCCTCCTCCGCCGCCGCCG,TCCTCCTCCTCCGCCGCCG,T
.
1
120069426
.
TCCG
TCCTCCGCCGCCG,TCCTCCTCCGCCG,T
.
1
120069426
.
TCCGCCG
T
.
1
120069426
.
TCCGCCGCCG
TCCTCCGCCGCCGCCGCCG,T
.
1
120069427
rs782327096
C
G
.
1
120069429
rs57122008
G
T
.
1
120069430
rs782235897
C
A
.
1
120069431
rs782378717
C
T
.
1
120069432
rs372170835
G
A,T
.
1
120069432
rs782311355
G
GCCGCCA
.
1
120069435
rs781967473
G
GCCGCCA
.
1
120069437
rs782424628
C
G
.
1
120069438
rs781924748
G
A
.
1
120069439
rs782073481
C
T
.