| General information of RDP00361 | |
|---|---|
| Gene Symbol: | ZSWIM6 |
| RefSeq ID: | NM_020928 |
| Repeat coordinate: | chr5:61332328-61332346 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.565; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | GGGGG |
| 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 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3) | 615951 | 5q12.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES | NM_020928 | 0.40 | 1 | 1 | GENOMICS_ENGLAND |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
61332326
.
GGGCGGC
GGGCGGCGGC,G
100
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
61332326
218778
GGGCGGC
G
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
61332326
.
GGGCGGC
GGGCGGCGGC,G,GGGC
.
5
61332341
.
CG
C
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
61332326
rs756663104
GGGCGGCGGCGGCGGCGGCGGGGGCAGCAGC
GGGCGGCGGCGGCGGCGGCGGCGGGGGCAGCAGC,GGGCGGCGGCGGCGGGGGCAGCAGC,GGGCGGCGGCGGCGGCGGGGGCAGCAGC,G,GGGCGGCGGCGGCGGCGGCGGCGGCGGGGGCAGCAGC
339034.64
5
61332327
.
GGCGGCGGCGGCGGCGGCGGGGGCAGCA
G
113791.50
5
61332329
.
C
CG
132955.41
5
61332330
.
GGCGGCGGCGGCGGCGGGGGCAGCA
G
82356
5
61332333
.
GGCGGCGGCGGCGGGGGCAGCA
G
10864.03
5
61332341
.
CG
GG,C
68236.87
5
61332344
.
C
G
29218.84
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
61332326
rs756663104
GGGCGGCGGCGGCGGCGGCGGGGGCAGCAGCGGC
GGGCGGCGGCGGCGGCGGCGGCGGGGGCAGCAGCGGC,GGGCGGCGGCGGCGGGGGCAGCAGCGGC,GGGCGGCGGCGGCGGCGGGGGCAGCAGCGGC,GGGC,GGGCGGCGGCGGCGGCGGCGGCGGCGGGGGCAGCAGCGGC,G
2676969.48
5
61332327
.
GGCGGCGGCGGCGGCGGCGGGGGCAGCA
G
758619.19
5
61332330
.
GGCGGCGGCGGCGGCGGGGGCAGCA
G,GGCGGCGGCGGCGGCGGGGGCAGCAGCGGCGGCGGCGGCGGGGGCAGCA
745473.53
5
61332333
.
GGCGGCGGCGGCGGGGGCAGCA
G
180929.38
5
61332339
.
G
GGGGGCAGCA
182905.40
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
61332326
rs374788320
GGGCGGC
G,GGGCGGCGGC
.
5
61332326
rs749694145
GGGCGGCGGCGGCGGCGGCGGGGGCAGCAGC
G,GGGCGGCGGCGGCGGCGGCGGCGGGGGCAGCAGC,GGGCGGCGGCGGCGGCGGCGGGGGCAGCAGCGGC,GGGCGGCGGCGGCGGGGGCAGCAGC
.
5
61332340
.
G
GC
.