| General information of RDP00434 | |
|---|---|
| Gene Symbol: | SMYD2 |
| RefSeq ID: | NM_020197 |
| Repeat coordinate: | chr1:214281433-214281454 (+) |
| Repeat size: | 7 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.038; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Malignant neoplasm of esophagus | NM_020197 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
214281441
rs183461239
G
A
.
1
214281452
.
CG
C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
214281431
rs539190942
GGGCGGCGGCGGC
GGGCGGCGGC,GGGCGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G,GGGC
1080562.17
1
214281434
rs769389692
C
G,A
517062.65
1
214281436
.
G
A
16541.10
1
214281439
rs775109015
G
A
11944
1
214281440
rs762577200
C
A,G
13273.76
1
214281441
rs183461239
G
A
109261.88
1
214281442
.
G
A
4178.34
1
214281447
.
G
A
125.76
1
214281448
rs760885006
G
A
4635.57
1
214281449
rs762327473
C
CGGCG
70204.95
1
214281450
rs766740404
G
A
221.28
1
214281451
rs754292064
G
A
1820.62
1
214281453
rs755507321
G
A
425.64
1
214281454
.
GGCGGGAGCCGGGGGCGCCGA
G
692.86
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
214281431
rs539190942
GGGCGGCGGC
GGGCGGCGGCGGC,GGGCGGC,GGGCGGCGGCGGCGGC,G,GGGCGGCGGCGGCGGCGGC,GGGC
298941.97
1
214281434
rs769389692
C
G
25430.10
1
214281435
.
G
A
3265.29
1
214281439
rs775109015
G
A
2454.63
1
214281440
rs762577200
C
A
3535.88
1
214281441
rs183461239
G
A
67912.58
1
214281449
rs762327473
C
CGGCG
2128.85
1
214281451
rs754292064
G
A
1598.46
1
214281454
.
GGCGGGAGCCGGGGGCGCCGA
G
711.50
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
214281431
rs745337184
GGGC
G
.
1
214281431
rs777150695
GGGCGGC
G
.
1
214281431
rs746706461
GGGCGGCGGC
G,GGGC,GGGCGGC,GGGCGGCGGCGGC,GGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGC
.
1
214281434
rs769389692
C
G
.
1
214281437
rs574950144
C
T
.
1
214281439
rs775109015
G
A
.
1
214281440
rs762577200
C
A,G
.
1
214281441
rs183461239
G
A
.
1
214281446
.
C
T
.
1
214281448
rs760885006
G
A
.
1
214281449
rs762327473
C
CGGCG
.
1
214281450
rs766740404
G
A
.
1
214281451
rs754292064
G
A
.
1
214281453
rs755507321
G
A
.