| General information of RDP00531 | |
|---|---|
| Gene Symbol: | TENM3 |
| RefSeq ID: | NM_001080477 |
| Repeat coordinate: | chr4:182449211-182449229 (+) |
| Repeat size: | 6 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.044; 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 |
| Microphthalmia, isolated, with coloboma 9, 615145 (3) | 610083 | 4q34.3-q35.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 | NM_001080477 | 0.60 | 1 | 2 | CTD_human;GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
182449212
.
C
T
11384.16
4
182449213
.
G
C
160441.75
4
182449215
.
C
A
821.95
4
182449216
.
G
T
189750.76
4
182449217
.
G
C,GCTCCGCTCCGCTC
223289.30
4
182449220
.
G
GCTCCGCTTCGCTC,GCTC,A
5716.63
4
182449221
rs372007053
C
A
197424.67
4
182449222
.
G
GCTCC
3584.03
4
182449223
rs375205883
G
C,GCTCCGCTCCGCTCCGGAGC,GAGC
202578.61
4
182449224
.
C
CTCCGGAGCT
8300.37
4
182449227
rs187851555
C
CGGCGGCGGCTCCGCTTCGCTCCGGAGCCGGT,T,CGGCGGCGGCGGCGGCGGCTCCGCTTCGCTCCGGAGCCGGT,CGGCGGCTCCGCTTCGCTCCGGAGCCGGT,CTCCGCTTCGCTCCGGAGCCGGT,CTCCGCTCCGCTCCGGAGCCGGT
224134.41
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
182449206
.
TGGTGGCG
CTCCGCTCC
.
4
182449213
.
G
C
.
4
182449216
.
G
T
.
4
182449216
.
GG
TC
.
4
182449216
.
GGC
GGAC,GGT,TCC
.
4
182449217
.
G
C
.
4
182449218
.
C
G
.
4
182449221
rs372007053
C
A,G
.
4
182449221
.
CGG
AGC
.
4
182449221
.
CGGC
AGCT
.
4
182449221
.
CGGCGGCGGCTCCGCTC
AGCCGGTGGCTCCGCTT,CGGCGGCGGCTCCGCTCCGCTCCGGAGCCGGTGGCTCCGCTT,CGGCGGCGGCTCCGCTCCGCTCCGGAGCTGGTGGCTCCGCTT,CGGCGGCGGCTCCGCTT,CGGCGGCGGCTCCGCTTCGCTCCGGAGCCGGTGGCTCCGCTT
.
4
182449223
rs375205883
G
C
.
4
182449224
.
C
T
.
4
182449226
.
GC
GT
.
4
182449227
rs187851555
C
CTCCGCTCCGCTCCGGAGCCGGT,CTCCGCTTCGCTCCGGAGCCGGT,G,T
.
4
182449227
.
CG
TG
.
4
182449227
.
CGGCTCCGCTC
CGGCTCCGCTCCGCTCCGGAGCCGGTGGCTCCGCTT,TGGCTCCGCTT
.
4
182449227
.
C
CGGCGGCTCCGCTTCGCTCCGGAGCCGGT,CGGCTCCGCTTCGCTCCGGAGCCGGT,CTCCGCTCCGCTCCGGAGCCGGT,CTCCGCTTCGCTCCGGAGCCGGT
.