| General information of RDP00335 | |
|---|---|
| Gene Symbol: | SIX3 |
| RefSeq ID: | NM_005413 |
| Repeat coordinate: | chr2:44942292-44942310 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.732; 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 |
| Schizencephaly, 269160 (3) | 603714 | 2p21 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Familial schizencephaly | NM_005413 | 0.30 | 0 | 0 | CTD_human |
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
44942290
.
AGGC
AGGCGGC,A
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
44942290
rs555285206
AGGCGGCGGC
AGGCGGC,AGGCGGCGGCGGC,AGGCGGCGGCGGCGGCGGCGGC,A,AGGCGGCGGCGGCGGC
185022.07
2
44942295
rs752797098
G
A
8107.14
2
44942296
rs758370043
C
A
8179.56
2
44942300
rs778060809
G
A
253.78
2
44942308
.
C
T
184
2
44942310
rs121917881
G
A
12996.86
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
44942290
rs555285206
AGGCGGCGGC
AGGCGGCGGCGGC,AGGCGGC,A
19171.12
2
44942310
rs121917881
G
A
2044.54
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
44942290
rs774370624
AGGC
A
.
2
44942290
rs767096834
AGGCGGCGGC
A
.
2
44942293
.
C
CG
.
2
44942295
rs752797098
G
A
.
2
44942296
rs758370043
C
A
.
2
44942296
.
C
CG
.
2
44942300
rs778060809
G
A
.
2
44942302
.
C
G
.
2
44942305
.
CGGC
A
.
2
44942306
.
GG
AGA
.
2
44942309
.
G
A
.
2
44942310
rs121917881
G
A
.