| General information of RDP00211 | |
|---|---|
| Gene Symbol: | RELN |
| RefSeq ID: | NM_005045 |
| Repeat coordinate: | chr7:103989357-103989381 (-) |
| Repeat size: | 8 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.877; 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 |
| {Epilepsy, familial temporal lobe, 7}, 616436 (3) | 600514 | 7q22.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Epilepsy, Familial Temporal Lobe 1 | NM_005045 | 0.31 | 0 | 0 | CTD_human |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
103989356
358429
TGCC
T
.
7
103989356
358430
TGCCGCC
T
.
7
103989356
418580
TGCCGCCGCCGCC
T
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
103989370
~rs72461107
C
CG
.
7
103989378
~rs55656324
GC
G
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
103989356
rs587780434
TGCCGCCGCCGCC
TGCCGCCGCCGCCGCCGCC,T,TGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCCGCC
11939435.53
7
103989359
.
C
T
978729.88
7
103989360
rs747705115
G
GCCGCCA,C
473292.99
7
103989361
rs778552909
C
CCGCCGT
431322.36
7
103989362
rs757670886
C
G
429212.54
7
103989367
.
C
T
291942.12
7
103989370
.
C
CG
5619.54
7
103989374
rs748041076
C
CGCCGCT
186
7
103989375
.
G
GCCGCCA
235.73
7
103989377
.
C
CGCCGCT
1727.14
7
103989378
.
G
GCCGCCA
1108.70
7
103989379
.
C
G
1724.04
7
103989381
rs771609138
G
GC,GCCGCCA
8562.19
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
103989377
.
C
CGCCGCG
325.66
7
103989379
.
C
G
131.59
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
7
103989356
.
TGCC
T,TGCCGCC,TGCCGCCGCC
.
7
103989356
.
TGCCGCC
T,TGCCGCCGCCGCC
.
7
103989356
rs757346675
TGCCGCCGCCGCC
T,TGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCCGCCGCC
.
7
103989360
rs747705115
G
C
.
7
103989361
rs778552909
C
CCGCCGT
.
7
103989362
rs757670886
C
G
.
7
103989365
.
C
T
.
7
103989374
rs748041076
C
CGCCGCT
.
7
103989375
.
GCCG
A
.
7
103989381
rs771609138
G
GC
.