| General information of RDP00530 | |
|---|---|
| Gene Symbol: | TENM3 |
| RefSeq ID: | NM_001080477 |
| Repeat coordinate: | chr4:182449092-182449110 (+) |
| Repeat size: | 6 |
| Repeat region: | intron |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.525; 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 ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
182449090
.
GAGC
AAGC,G,TAGC
534.20
4
182449091
rs748675058
AGCGGCG
A,AGCG
26472342.16
4
182449095
.
G
A
670061.31
4
182449096
.
C
T
615332.64
4
182449097
.
G
A
614432.11
4
182449101
.
G
A,T
767.29
4
182449102
.
C
T
57.32
4
182449103
.
G
A
68.40
4
182449105
.
C
T,A
548.82
4
182449106
.
G
A
88.36
4
182449107
.
G
A
245.44
4
182449108
.
CGGCCTGGGGCGGG
C,TGGCCTGGGGCGGG
399.82
4
182449109
.
G
A
898.17
4
182449110
.
G
A
664.91
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
182449091
rs748675058
AGCGGCG
AGCG,A,AGCGGCGGCG
15867089.49
4
182449107
.
G
T
19607.56
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
182449089
.
TGAGCG
TGA
.
4
182449089
.
TGAGCGGCG
TGAGCG
.
4
182449091
.
AGCG
A
.
4
182449091
rs35591339
AGCG
A
.
4
182449091
rs748675058
AGCGGCG
A,AGCG
.
4
182449092
.
GCGG
G
.
4
182449092
.
GCGGC
GC
.
4
182449092
.
GCGGCGGC
GCGGC
.
4
182449092
.
GCGGCGGCG
GCGGCG
.
4
182449092
.
GCGGCGGCGGC
GCGGCGGC
.
4
182449092
.
GCGGCGGCGGCG
GCGGCGGCG
.
4
182449092
.
GCGGCGGCGGCGGCGGC
GCGGCGGCGGCGGC
.
4
182449092
.
GCGG
GC,G
.
4
182449100
.
GGC
G
.