| General information of RDP00523 | |
|---|---|
| Gene Symbol: | TRIOBP |
| RefSeq ID: | NM_001039141 |
| Repeat coordinate: | chr22:37746314-37746335 (+) |
| Repeat size: | 7 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.997; 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 OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Deafness, autosomal recessive 28, 609823 (3) | 609761 | 22q13.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Deafness, Autosomal Recessive 28 | NM_001039141 | 0.70 | 3 | 14 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
37746290
rs781008623
CGCGGCGGCGGGCGGCCGAGAGGGGCGGCGGCG
C
52565.50
22
37746312
.
GGGC
G,GGGCGGC
92239.24
22
37746317
rs751056875
G
A
2705.25
22
37746331
.
G
A
264.92
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
37746312
.
GGGCGGC
GGGC,G,GGGCGGCGGCGGCGGC,GGGCGGCGGCGGC,GGGCGGCGGC
50470.05
22
37746318
.
C
T
3242.86
22
37746325
.
G
A
82.72
22
37746331
.
G
A
309.72
22
37746333
.
C
A
278.41
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
22
37746312
.
GGGC
G
.
22
37746312
.
GGGC
G
.
22
37746315
.
C
G
.
22
37746317
rs751056875
G
A
.
22
37746317
.
G
GC
.
22
37746318
.
C
CG
.
22
37746318
.
C
CG
.
22
37746324
.
C
G
.
22
37746330
.
C
G
.