| General information of RDP00680 | |
|---|---|
| Gene Symbol: | TRIO |
| RefSeq ID: | NR_134469 |
| Repeat coordinate: | chr5:14144906-14144924 (+) |
| Repeat size: | 6 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.394; 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 |
| Mental retardation, autosomal dominant 44, 617061 (3) | 601893 | 5p15.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 | NR_134469 | 0.70 | 2 | 13 | CTD_human;ORPHANET;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
14144901
.
AGGAGGCGGC
A
459.70
5
14144904
rs577311304
AGGCGGCGGCGGC
AGGC,AGGCGGCGGCGGCGGC,A,CGGCGGCGGCGGC,AGGCGGCGGC,AGGCGGCGGCGGCGGCGGCGGC
176811.19
5
14144922
.
C
T
176.49
5
14144923
.
G
GGCC
983.23
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
14144904
.
AGGCGGCGGC
A
.
5
14144904
.
AGGCGGCGGCGGC
A
.
5
14144907
.
C
A,T
.
5
14144916
.
CGGCGGCGGCCTCGGGGCCGGCACCCAGAGCGCA
CGGCGGCGGCCTCGGGGCCGGCAGCCCAGAGCGCA
.
5
14144921
.
G
C
.
5
14144923
.
G
A
.
5
14144923
.
GGCCTCGGGGCCGGCA
GGCCTCGGGGCCGGCAG
.
5
14144923
.
GGCCTCGGGGCCGGCACCCAGAGCG
GGCCTCGGGGCCGGCAGCCCAGAGCG
.