| General information of RDP00372 | |
|---|---|
| Gene Symbol: | ARID1B |
| RefSeq ID: | NM_001346813 |
| Repeat coordinate: | chr6:156778849-156778873 (+) |
| Repeat size: | 8 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.996; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | GGGGGGG |
| 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 |
| Coffin-Siris syndrome 1, 135900 (3) | 614556 | 6q25.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | NM_001346813 | 0.60 | 2 | 59 | GENOMICS_ENGLAND |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
156778847
126338
GGGCGGC
G
.
6
156778847
434371
GGGCGGCGGC
G
.
6
156778847
445786
GGGCGGCGGCGGC
G
.
6
156778847
374730
GGGCGGCGGCGGCGGC
G
.
6
156778869
434372
GGCGGAGGAGGAGGAGGCA
G
.
6
156778871
126339
C
A
.
6
156778871
126340
CGGA
C
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
156778847
.
GGGC
G
.
6
156778871
.
CGGA
C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
156778847
rs759755695
GGGCGGCGGCGGC
GGGCGGCGGC,GGGCGGC,GGGCGGCGGCGGCGGC,GGGC,GGGCGGCGGCGGCGGCGGC,G
313137.97
6
156778850
rs751102826
C
A
270760.04
6
156778853
.
C
T
100655.96
6
156778860
.
G
A
1469.99
6
156778862
.
C
CGGCGGCGGCGGA
5928.70
6
156778865
.
C
A,T,CGGCGGCGGAGGAGGAGGA
4369.63
6
156778867
.
G
A
269.60
6
156778868
.
C
A
4328.27
6
156778869
rs755976776
GGCGGAGGAGGAGGAGGCA
G,GGCGGAGGAGGAGGAGGCAGCGGAGGAGGAGGAGGCA
2930.64
6
156778870
rs756982067
G
C
1060.38
6
156778871
rs184815562
CGGAGGAGGAGGAGGCAGCGGAGGA
AGGAGGAGGAGGAGGCAGCGGAGGA,CGGAGGAGGAGGAGGAGGCAGCGGAGGA,CGGAGGAGGAGGCAGCGGAGGA,C
407070.78
6
156778872
.
G
A
302638.76
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
156778847
rs759755695
GGGCGGCGGCGGC
GGGCGGCGGC,GGGCGGCGGCGGCGGC,GGGC,GGGCGGC,GGGCGGCGGCGGCGGCGGC,G
149609.11
6
156778862
.
C
CGGCGGCGGCGGA
1829.18
6
156778865
.
C
CGGCGGCGGAGGAGGAGGA
292.34
6
156778866
.
G
A
277.26
6
156778869
rs755976776
G
GGCGGCGGAGGAGGAGGAGGCA
589.19
6
156778871
rs184815562
CGGAGGAGGAGGAGGCAGCGGAGGAGGA
CGGAGGAGGAGGCAGCGGAGGAGGA,AGGAGGAGGAGGAGGCAGCGGAGGAGGA,CGGAGGAGGAGGAGGAGGCAGCGGAGGAGGA,C,CGGA
91379.44
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
6
156778847
rs752981400
GGGC
G
.
6
156778847
rs587779747
GGGCGGC
G
.
6
156778847
rs757008446
GGGCGGCGGC
G
.
6
156778847
rs750281468
GGGCGGCGGCGGC
G,GGGC,GGGCGGC,GGGCGGCGGC,GGGCGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGC
.
6
156778850
rs751102826
C
A
.
6
156778855
.
G
C
.
6
156778856
.
C
G
.
6
156778869
rs755976776
G
GGCGGAGGAGGAGGAGGCA
.
6
156778870
rs756982067
G
C
.
6
156778871
rs184815562
C
A
.
6
156778871
.
CGGA
AGGA,C,CGGAGGA
.
6
156778871
rs748785872
C
CGGA
.
6
156778871
rs587779748
CGGA
C
.