DRED

General information of RDP00574
Gene Symbol:CNTNAP5
RefSeq ID:NM_130773
Repeat coordinate:chr2:124707140-124707206 (+)
Repeat size:22
Repeat region:intron
Repeat unit:GAA
Repeat conservation:PhastCons_score: 0.000; 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 1000 Genomes:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
124707140
.
GGAAGAAGAA
G
100
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
124707111
.
AGGAAGAAGAAGAAAGAAGAAGAAGAAGAGG
AAAGAAGAAGAAAGAAGAAGAAGAAGAGG,AAAGAAGAAGAGG,A
97449.62
2
124707123
rs138452597
AAAGAAGAAGAAGAAGAGGAAGAAG
AAAGAAGAAGAAGAAGAAGAGGAAGAAG,AGGAAGAAGAAGAAGAAGAGGAAGAAG,A,AAAGAAG,AAAG
243581.75
2
124707135
.
GAAGAGGAA
GAGAGGAA,TAAGAGGAA,GAAAGAGGAA,G
770643.01
2
124707138
rs367721871
GAGGAAGAAGAAGAAGAA
GAAGGAAGAAGAAGAAGAA,GGAA,G,GGAAGAA
883554.10
2
124707139
rs757478770
AGGAAGAAG
AGAAGAAG,AAAGAAG,AAAG,A
771111.53
2
124707140
rs371316602
GGAAGAAGAAGAAGAAGAA
GGAAGAA,GGAAGAAGAA,G,GGAA,GGAAGAAGAAGAA,GGAAGAAGAAGAAGAA
4107296.56
2
124707141
.
GA
G
3942242.90
2
124707142
.
AAGAAGAAGAAGAAGAAG
A
3926791.80
2
124707143
rs770051422
A
G
3847232.19
2
124707144
.
GA
G
3672364.29
2
124707145
.
A
C
3634859.37
2
124707146
rs755464440
A
AGAG,G
3622836.69
2
124707147
.
GAAGAAGAA
GAGAAGAA,G
3293139.37
2
124707148
.
AAG
A
3263167.29
2
124707149
rs867860753
A
G,AGAG
3306864.91
2
124707150
.
GAA
GAAA,G
2645911.44
2
124707151
.
AAGAAG
A,AAAG
2553501.47
2
124707152
rs376184621
A
G
2729658.61
2
124707155
rs200758491
A
G,AGAAGAG
2070323.88
2
124707156
rs182593670
G
GAAGAAGAAC
1643028.80
2
124707158
rs150541128
A
G,AGAG
1652414.09
2
124707160
.
A
AAGG
526060.58
2
124707161
rs369517818
A
G
554854.88
2
124707163
.
A
G
334415.15
2
124707164
rs868217064
A
G
372664.71
2
124707165
.
G
T
184492.47
2
124707167
.
A
G
220143.24
2
124707170
.
A
G
25228.07
2
124707173
rs185362326
A
T,AGAAGAAGAAGAAGAT
5055.71
2
124707176
rs191101702
A
T,AGAAGAAGAAGAT,AGAAGAAGAAGAAGAT,AGAT,AGAAGAAGAAGAAGAAGAT
27485.68
2
124707179
rs183804927
AG
TG,AGAAGAAGATG,A,AGAAGAAGAAGAAGATG,AGAAGAAGAAGATG
39516.88
2
124707181
.
AAGAAGAAGAAGAAG
A
1413.35
2
124707183
.
GAAGAAGAAGAAGAAGAAGAAGAAT
G
1868.04
2
124707185
.
A
AGAAGAT,T,AGAT
5019.28
2
124707186
.
GAAGAAGAAGAAGAAGAAGAAT
G
2352.29
2
124707187
.
A
AAGG
2572.10
2
124707192
.
GAAGAAGAAGAAGAAT
G
2708.03
2
124707194
.
A
G,AGAAGAAGAAGAAGAAGAAGAAGAG
3820.57
2
124707198
.
GAAGAAGAAT
G
3610.26
2
124707201
rs188346657
GAAGAAT
G,GAAGAATAAGAAT,GAAGAAGAATAAGAAT,GAAGAAGAAGAATAAGAAT
23807.53
2
124707204
rs138251447
GAAT
G,GAATAAT,GAAGAAGAAGAAGAATAAT,GAAGAATAAT,GAAGAAGAAGAATAAT
79374.44
2
124707205
.
A
AAGAAGAAGAAG,AAG
25517.27
2
124707206
.
AT
A
23062.87
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
124707139
rs748270782
AGG
AAAG,AAG,AAGA,A
.
2
124707140
.
GGAA
AGAG
.
2
124707140
rs76714465
GGAAGAAGAA
G
.
2
124707140
rs776139943
GGAAGAAGAAGAAGAAGAA
G
.
2
124707141
.
G
A
.
2
124707143
rs770051422
A
G
.
2
124707144
.
G
GA
.
2
124707145
.
AAG
A
.
2
124707146
rs755464440
A
G
.
2
124707146
.
A
AG
.
2
124707147
.
G
GA
.
2
124707149
.
A
G
.
2
124707149
.
A
AG
.
2
124707150
.
G
T
.
2
124707150
.
G
GA
.
2
124707150
.
GAA
G
.
2
124707151
.
AAGAAG
A
.
2
124707152
rs376184621
A
G
.
2
124707155
rs200758491
A
G
.
2
124707155
rs182593670
AG
A,AT
.
2
124707158
rs150541128
A
G
.
2
124707159
.
G
T
.
2
124707160
.
A
G
.
2
124707161
rs369517818
A
G
.
2
124707163
.
A
G
.
2
124707164
.
A
G
.
2
124707166
.
A
G
.
2
124707167
.
A
G
.
2
124707169
.
A
G
.
2
124707171
.
G
GA
.
2
124707173
rs185362326
A
T
.
2
124707176
rs191101702
A
T
.
2
124707176
rs755110727
A
AGAT
.
2
124707179
rs183804927
A
T
.
2
124707179
.
A
AG
.
2
124707182
rs574171551
A
T
.
2
124707185
.
A
T
.
2
124707186
.
G
T
.
2
124707188
rs542776699
A
T
.
2
124707190
rs577567120
A
G
.
2
124707194
.
A
C
.
2
124707201
rs188346657
G
T
.
2
124707204
rs138251447
G
T
.
2
124707204
.
GAAT
G
.
2
124707204
rs201421624
GAAT
G
.