| General information of RDP00086 | |
|---|---|
| Gene Symbol: | ACVR1B |
| RefSeq ID: | NM_004302 |
| Repeat coordinate: | chr12:51951714-51951735 (+) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.967; 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 |
| Pancreatic cancer, somatic (3) | 601300 | 12q13.13 |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
51951713
.
TGCG
TGCGGCG,T
100
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
51951730
.
C
CG
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
51951713
rs751572136
TGCGGCGGCGGCG
TGCGGCGGCG,TGCGGCGGCGGCGGCG,TGCGGCG,TGCGGCGGCGGCGGCGGCG,T
27065931.78
12
51951716
rs576598174
G
GGCT
26696848.07
12
51951717
rs755719640
G
T
3925851.61
12
51951718
rs780105321
C
T
3847644.50
12
51951719
.
G
T
3829667.72
12
51951721
rs749283726
C
T
18120.89
12
51951724
rs756467696
CGGCGGCGGCGGT
C
1160.57
12
51951727
rs777955731
CGGCGGCGGT
C,CGGCGGTGGCGGCGGT
1308.62
12
51951728
.
G
A
1037.51
12
51951730
rs749682897
C
T,CGGT
1957.31
12
51951731
.
G
A
987.82
12
51951733
rs768555731
CGGT
TGGT,CGGTGGT,C
4700.10
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
51951713
rs751572136
TGCGGCG
TGCG,T,TGCGGCGGCG,TGCGGCGGCGGCG
11806190.33
12
51951716
rs576598174
G
GGGGGCGCGCGCGCGCGCGCTGGGCGCTGCTGGGCT
11630555.07
12
51951717
rs755719640
G
T
115810.11
12
51951718
rs780105321
C
T
53013.71
12
51951730
rs749682897
C
T,CGGT
1075.45
12
51951733
rs768555731
CGGT
TGGT,C
1375.38
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
12
51951702
.
CGCTGCTGGGCTGCGGCGGCGGCGGCGGCGGCGGTGGT
CGCTGCTGGGCTGCGGCGGCGGCGGCGGCGGTGGT
.
12
51951712
.
CTGCGGCGGC
CTGCGGC
.
12
51951713
.
TGCG
T
.
12
51951713
rs10540557
TGCG
T,TGCGGCG
.
12
51951713
rs766601116
TGCGGCG
T
.
12
51951713
rs755115511
TGCGGCGGCGGCG
T,TGCGGCG,TGCGGCGGCG,TGCGGCGGCGGCGGCG,TGCGGCGGCGGCGGCGGCG
.
12
51951715
rs749855558
C
T
.
12
51951716
.
G
T
.
12
51951716
rs576598174
G
GGCG,GGCT
.
12
51951717
rs755719640
G
T
.
12
51951718
rs780105321
C
T
.
12
51951721
rs749283726
C
T
.
12
51951724
rs756467696
CGGCGGCGGCGGT
C
.
12
51951727
rs777955731
C
CGGCGGT
.
12
51951730
rs749682897
C
CGGCGGT,CGGT
.
12
51951733
rs768555731
C
T
.
12
51951733
rs779923195
CGGT
C
.