| General information of RDP00336 | |
|---|---|
| Gene Symbol: | TCF7L1 |
| RefSeq ID: | NM_031283 |
| Repeat coordinate: | chr2:85133707-85133725 (+) |
| Repeat size: | 6 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.449; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Pituitary hormone deficiency | NM_031283 | 0.30 | 1 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
85133705
rs769216273
GGGCGGC
GGGC,GGGCGGCGGCGGC,GGGCGGCGGC,G
696591.53
2
85133718
rs534725385
G
A
23406.26
2
85133721
.
G
GGCGGCA,A
333.52
2
85133724
.
G
A
65.47
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
85133695
.
TCGGCGGCGGGGGCGG
T
808.38
2
85133705
rs769216273
GGGCGGCGGCGGC
GGGCGGCGGC,GGGC,GGGCGGCGGCGGCGGCGGC,G,GGGCGGC,GGGCGGCGGCGGCGGCGGCGGC
6385920.45
2
85133708
.
C
CGGCGGCGGCGGG
6295563.55
2
85133711
.
C
CGGCGGCGGCGGCGGCAGCGGGGGA
8094.33
2
85133718
rs534725385
G
A
114794.44
2
85133721
.
G
GGCGGCA
1809.66
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
85133695
.
TCGGCGGCGGGGGC
TCGGCGGCGGG
.
2
85133701
.
GCGGGGGCGGC
GCGGGGGC
.
2
85133702
.
CGGGGGCGGCGGC
CGGGGGCGGC
.
2
85133702
.
CGGGGGCGGCGGCGGC
CGGGGGCGGCGGC
.
2
85133704
.
GGGGCG
GGG
.
2
85133705
.
GGGC
G
.
2
85133705
.
GGGCGGCGGCGGCGG
GGGCGGCGGCGG
.
2
85133705
rs566806913
GGGC
G,GGGCGGCGGC
.
2
85133706
.
GGCGGC
GGC
.
2
85133706
.
GGCGGCGGCGGCGGC
GGCGGCGGCGGC
.
2
85133706
.
GGCGGCGGCGGCGGCGGC
GGCGGCGGCGGCGGC
.
2
85133708
.
C
G
.
2
85133714
.
C
G
.
2
85133715
.
GGCG
A
.
2
85133717
.
CG
GA
.
2
85133718
rs534725385
G
A
.
2
85133718
rs781520696
G
GGCGGCGGCA
.
2
85133720
.
C
G
.
2
85133721
.
G
A
.
2
85133724
.
G
A
.