DRED

General information of RDP00165
Gene Symbol:BMPR2
RefSeq ID:NM_001204
Repeat coordinate:chr2:202376513-202376546 (+)
Repeat size:11
Repeat region:5' UTR
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.464; 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:
PhenotypeOMIM_idLocation
Pulmonary venoocclusive disease 1, 265450 (3)6007992q33.1-q33.2
Mapping repeat track to DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
Mammary Carcinoma, HumanNM_0012040.3010CTD_human
Mapping repeat track to ClinVar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
202376511
333618
AGGC
A
.
2
202376528
425668
GC
AT
.
2
202376542
333619
G
A
.
2
202376545
333620
G
GGCA
.
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
202376511
rs570604902
AGGCGGCGGC
AGGCGGCGGCGGCGGCGGC,AGGCGGC,AGGCGGCGGCGGC,A,AGGCGGCGGCGGCGGCGGCGGC,AGGCGGCGGCGGCGGC
2354316.28
2
202376515
.
G
A
167625.71
2
202376520
rs867772874
C
T
143913.33
2
202376521
.
GGCGGCGGCGGCGGCGGCGGCGGCGGCA
G
32711.10
2
202376530
.
GGCGGCGGCGGCGGCGGCA
G
2215.14
2
202376531
.
G
A
2437.31
2
202376536
.
GGCGGCGGCGGCAGCAGCA
GGCGGCGGCGGCAGCGGCGGCGGCAGCAGCA,G
1348.93
2
202376539
.
G
GGCGGCGGCA
1365.79
2
202376542
rs562633536
GGCGGCA
AGCGGCA,GGCGGCAGCGGCA,G,GGCGGCGGCGGCGGCAGCGGCA
32874.44
2
202376545
rs3044175
GGCAGCAGCA
AGCAGCAGCA,GGCAGCAGCAGCA,GGCGGCGGCGGCAGCAGCAGCA,GGCGGCGGCAGCAGCAGCA,G
41359.42
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
202376511
.
AGGC
A,AGGCGGC
.
2
202376511
.
AGGCGGC
A
.
2
202376511
.
AGGCGGCGGC
A,AGGCGGCGGCGGC
.
2
202376511
.
AGGCGGCGGCGGC
A
.
2
202376532
.
C
G,T
.
2
202376534
.
G
GC
.
2
202376542
rs562633536
G
A
.
2
202376542
rs771255805
G
GGCGGCA,GGCGGCGGCGGCGGCA
.
2
202376545
rs3044175
G
A
.
2
202376545
rs568136148
G
GGCA
.