| General information of RDP00263 | |
|---|---|
| Gene Symbol: | E2F4 |
| RefSeq ID: | NM_001950 |
| Repeat coordinate: | chr16:67195890-67195929 (+) |
| Repeat size: | 13 |
| Repeat region: | CDS |
| Repeat unit: | CAG |
| Repeat conservation: | PhastCons_score: 0.994; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | SSSSSSSSSSSS |
| 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 |
| Disease Exacerbation | NM_001950 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
67195890
~rs112970553
ACAGCAGCAGCAGCAGCAG
ACAGCAGCAG,ACAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAG
.
16
67195911
rs377030974
G
A
.
16
67195923
rs200439672
G
A
.
16
67195924
rs3730404
C
T
.
16
67195927
rs373280324
C
T
.
16
67195929
rs376202405
G
A
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
67195889
rs775536838
GACAGCAGCAGCAGCAGCAGCAGCAGCAGCA
G
7573.21
16
67195892
rs760602299
A
G
57498646.76
16
67195893
rs766653093
G
A
57505644.02
16
67195894
.
C
T
42653638.98
16
67195899
rs754060853
G
C
9505883.03
16
67195901
.
A
C
4829442.09
16
67195906
rs557254925
C
T
2066214.07
16
67195917
.
G
A
91477.56
16
67195918
rs34901336
C
CAGCAGCAGT,CAGCAGG
36364.43
16
67195923
rs200439672
G
A,GCAGCAGCAA
144218.55
16
67195924
rs3730404
C
T,CAGT,CAGCAGCAGCAGCAGT,CAGCAGCAGT
14533039.91
16
67195926
rs201338753
G
GCAA,GCAGCAA,GCAGCAGCAGCAGCAGCAA
16578.65
16
67195927
rs373280324
C
T,CAGCAACAGT
32020.52
16
67195928
rs745390568
A
G
8713.32
16
67195929
rs376202405
G
A,GCAA,GCAGCAA
69356.78
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
67195890
rs552823502
ACAGCAGCAG
ACAGCAGCAGCAG,ACAGCAG,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAG
1483451.67
16
67195891
.
C
T
407589.62
16
67195893
rs766653093
G
A
405747.88
16
67195894
.
C
T
311299.49
16
67195917
.
GCAGCAGCAGCAGCAA
G
843.42
16
67195923
rs200439672
G
A
2320.72
16
67195924
rs3730404
C
T,CAGCAGCAGCAGCAGT,CAGCAGT,CAGCAGCAGT
522644.40
16
67195927
rs373280324
C
CAGCAACAGT
3384.04
16
67195929
rs376202405
G
A
892.42
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
16
67195887
.
TGGACAGCAG
TGGACTCCAG
.
16
67195887
.
TGGACAGCAGCAG
TGGACAGCTCCAG
.
16
67195889
rs775536838
GACAGCAGCAGCAGCAGCAGCAGCAGCAGCA
G
.
16
67195890
rs3830472
ACAG
A
.
16
67195890
.
ACAGCAG
A
.
16
67195890
rs765662164
ACAGCAGCAG
A
.
16
67195890
.
ACAGCAGCAGCAGCAG
A
.
16
67195890
rs562856782
ACAGCAGCAGCAGCAGCAG
ACAGCAGCAG,ACAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,A
.
16
67195891
.
C
T
.
16
67195891
.
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
CAGCAGCAGCAGCAGCAGCAGCAGCA
.
16
67195892
rs760602299
A
G
.
16
67195893
rs766653093
G
A
.
16
67195899
rs754060853
G
C
.
16
67195902
rs577742150
G
A
.
16
67195905
rs544893537
G
A
.
16
67195905
rs766050920
GCAGCAGCAGCAGCAGCAGCAGCAGCAA
G
.
16
67195906
rs557254925
C
T
.
16
67195908
rs575614504
G
A
.
16
67195909
.
C
T
.
16
67195911
rs377030974
G
A
.
16
67195914
rs140980388
G
A
.
16
67195916
.
A
AG
.
16
67195917
.
G
A
.
16
67195918
rs34901336
C
CAGCAGCAGT,CAGCAGG,CA
.
16
67195920
.
G
A
.
16
67195920
rs780946213
G
GCAGCAGCAGCAACAGTAA
.
16
67195923
rs200439672
G
A
.
16
67195924
rs3730404
C
CAGCAGCAGT,CAGT,T
.
16
67195924
rs748010501
C
CAGCAGCAGT,CAGT
.
16
67195926
rs201338753
G
A
.
16
67195926
rs777523089
G
GCAGCAA
.
16
67195927
rs373280324
C
T
.
16
67195927
rs746148961
C
CAGCAACAGT
.
16
67195928
rs745390568
A
G
.
16
67195929
rs376202405
G
A,GCAA,GCAGCAA
.
16
67195929
.
GCAACAGTAA
ACAGTAACAG
.
16
67195929
rs772097792
G
GCAA,GCAGCAA
.