| General information of RDP00281 | |
|---|---|
| Gene Symbol: | IRF2BPL |
| RefSeq ID: | NM_024496 |
| Repeat coordinate: | chr14:77027305-77027332 (-) |
| Repeat size: | 9 |
| Repeat region: | CDS |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 0.763; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | AAAAAAAA |
| 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 |
| NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | NM_024496 | 0.60 | 3 | 7 | GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
77027301
~rs10565499
CGCAGCGGCGGCG
CGCG,C,CGCGGCGGCG
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
77027301
rs780441372
CGCAGCGGCGGCG
CGCGGCGGCG,CGCG,CGCGGCAGCGGCGGCG,CGCGGCG,C,CGCGGCGGCAGCGGCGGCG
372486.93
14
77027304
rs762944175
AGCGGCGGCG
GGCGGCGGCG,A,AGCGGCG,AGCGGCGGCGGCG,AGCGGCGGCGGCGGCG
18027742.37
14
77027307
.
G
A,T
2145956.55
14
77027308
.
G
C
321254.98
14
77027310
.
G
A
311160.01
14
77027313
rs751397655
G
A
164596.41
14
77027317
rs767791510
G
A
3588.15
14
77027318
rs750552932
C
T
3484.88
14
77027319
.
G
A
3388.38
14
77027322
rs557255775
G
GGCGGCGGCA,GGCGGCGGCGGCA,A,GGCA
11292.83
14
77027324
rs756179471
C
T
1703.58
14
77027325
.
G
A,GGCGGCGGCA
807.26
14
77027328
rs753516392
G
GGCGGCA
1644.35
14
77027330
rs755424720
C
T
54.78
14
77027331
rs757025289
GGCA
AGCA,G,GGCAGCA
7949.84
14
77027332
rs779315430
G
A
2472.39
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
77027301
rs780441372
CGCAGCGGCGGCG
CGCGGCGGCG,CGCGGCAGCGGCGGCG,CGCGGCGGCGGCAGCGGCGGCG,CGCGGCGGCAGCGGCGGCG,CGCG,C
41120.77
14
77027304
rs762944175
AGCGGCGGCG
GGCGGCGGCG,AGCGGCG,AGCGGCGGCGGCGGCG,AGCGGCGGCGGCGGCGGCG,A,AGCGGCGGCGGCG
3496383.34
14
77027307
.
G
A
518720.51
14
77027322
rs557255775
G
GGCGGCGGCGGCA
5101.49
14
77027328
rs753516392
G
GGCGGCA
421.53
14
77027329
rs749848829
G
A
300.54
14
77027331
rs757025289
GGCA
AGCA,GGCAGCA,G
1108.46
14
77027332
rs779315430
G
A
603.56
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
14
77027301
rs769044720
CGCAGCG
C,CGCGGCG
.
14
77027301
rs747352981
CGCAGCGGCG
C
.
14
77027301
rs762072245
CGCAGCGGCGGCG
C
.
14
77027301
rs776803730
CGCAGCGGCGGCGGCG
C
.
14
77027302
.
GCAGCGGC
GCGGCGGC
.
14
77027304
.
AGCG
GGCG
.
14
77027304
.
AGCGGCGGCG
A,AGCG,AGCGGCG,AGCGGCGGCGGCG,AGCGGCGGCGGCGGCG,GGCGGCGGCG
.
14
77027304
.
AGCGGCGGCGGC
GGCGGCGGCGGC
.
14
77027304
rs371633333
AGCG
A
.
14
77027304
rs752597830
AGCGGCG
A
.
14
77027304
rs773409481
AGCGGCGGCG
A
.
14
77027310
.
GGC
GGCG
.
14
77027313
rs751397655
G
A
.
14
77027315
rs757560298
C
T
.
14
77027317
rs767791510
G
A
.
14
77027318
rs750552932
C
T
.
14
77027320
rs531071294
G
GC
.
14
77027322
rs557255775
G
A
.
14
77027322
rs760501664
G
GGCA,GGCGGCGGCGGCA
.
14
77027323
.
G
GC
.
14
77027324
rs756179471
C
T
.
14
77027326
rs779965093
G
T
.
14
77027328
.
G
T
.
14
77027328
rs753516392
G
GGCGGCA
.
14
77027329
rs749848829
G
A
.
14
77027330
rs755424720
C
A
.
14
77027331
.
GGCA
AGCA,G,GGCAGCA
.
14
77027331
rs757025289
G
GGCA
.
14
77027331
rs764804511
GGCA
G
.
14
77027332
rs779315430
G
A
.