| General information of RDP00362 | |
|---|---|
| Gene Symbol: | ZSWIM6 |
| RefSeq ID: | NM_020928 |
| Repeat coordinate: | chr5:61332715-61332733 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.516; 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 ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
61332713
218777
GGGCGGC
G
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
61332698
rs746096842
TGGCGGCGGCGGCGCGGGCGGCGGC
CGGCGGCGGCGGCGCGGGCGGCGGC,TGGC,T,TGGCGGCGGC
27611.38
5
61332713
rs864309616
GGGCGGCGGC
GGGCGGC,GGGC,G
20986.07
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
61332698
rs746096842
TGGCGGCGGCGGCGCGGGCGGC
TGGCGGC,T,TGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGCGGGCGGC,TGGCGGCGGCGGCGCGGGCGGCGGCGGCGCGGGCGGC
3487.75
5
61332713
rs864309616
GGGCGGCGGC
GGGCGGCGGCGGC,GGGC,GGGCGGCGGCGGCGGC,G,GGGCGGC
80653.60
5
61332730
.
G
GCGGCTC
572.38
5
61332732
.
G
A
545.06
5
61332733
.
GCTC
G
236.42
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
5
61332698
rs746096842
TGGCGGCGGCGGCGCGGGCGGC
T
.
5
61332713
.
GGGCGGC
G
.
5
61332727
.
G
GC
.