| General information of RDP00382 | |
|---|---|
| Gene Symbol: | TGFBR1 |
| RefSeq ID: | NM_001130916 |
| Repeat coordinate: | chr9:99105257-99105281 (+) |
| Repeat size: | 8 |
| Repeat region: | CDS |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.015; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | AAAAAAA |
| 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 |
| {Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3) | 190181 | 9q22.33 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Familial thoracic aortic aneurysm and aortic dissection | NM_001130916 | 0.60 | 8 | 12 | CLINGEN;GENOMICS_ENGLAND |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
99105255
.
TGGCGGCGGC
TGGCGGC,T
100
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
99105254
213862
CTGGCGGCGG
C
.
9
99105255
213863
TGGC
T
.
9
99105255
263873
TGGCGGC
T
.
9
99105255
165381
TGGCGGCGGC
T
.
9
99105267
444775
C
T
.
9
99105274
263391
GGCGGC
G
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
99105255
rs750857489
TGGCGGCGGC
T,TGGCGGC,TGGCGGCGGCGGC
59519.18
9
99105258
.
C
T
52851.01
9
99105261
.
C
T
22912.49
9
99105270
.
C
T
33.55
9
99105273
.
C
T
112.22
9
99105280
.
G
A
66.52
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
99105255
rs750857489
TGGCGGCGGCGGC
TGGC,TGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGC
947967.33
9
99105271
.
G
A
783.74
9
99105281
.
G
A
1281.15
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
9
99105253
.
GCTGGCGGCGGC
GCT
.
9
99105254
.
CTGGCGGCGGC
CT
.
9
99105255
.
TGGCGGCGGC
T
.
9
99105255
rs554578321
TGGC
T
.
9
99105255
rs11466445
TGGCGGCGGC
T,TGGCGGC
.
9
99105256
.
GGCGGCGGCGGCGGC
GGCGGC
.
9
99105256
.
GGCGGCGGCGGCGGCGGC
GGCGGCGGC
.
9
99105258
.
CGG
CGA
.
9
99105269
.
G
C
.
9
99105270
.
C
CG
.
9
99105273
.
C
G
.
9
99105279
.
C
CG
.
9
99105281
.
G
C
.