| General information of RDP00396 | |
|---|---|
| Gene Symbol: | BPTF |
| RefSeq ID: | NM_004459 |
| Repeat coordinate: | chr17:67826264-67826279 (+) |
| Repeat size: | 5 |
| Repeat region: | CDS |
| Repeat unit: | GAC |
| Repeat conservation: | PhastCons_score: 0.999; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | DDDDD |
| 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 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3) | 601819 | 17q24.2 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES | NM_004459 | 0.60 | 1 | 5 | GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
67826264
rs768839258
AGACGAC
AGAC,AGACGACGACGAC,A,AGACGACGAC
1825685.97
17
67826266
rs749305717
A
G
1816740.36
17
67826267
rs758332344
C
A,G
1824016.51
17
67826268
rs779918027
G
T
11390.79
17
67826269
rs746951735
A
G
7723.72
17
67826271
rs768383666
G
C
970.40
17
67826275
.
A
G
549.37
17
67826278
rs781007882
A
C
969.38
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
67826264
rs768839258
AGACGAC
AGAC,AGACGACGAC,A
181309.80
17
67826267
rs758332344
C
G
180387.62
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
17
67826264
.
AGAC
A
.
17
67826264
rs554343942
AGAC
A
.
17
67826264
rs781553532
AGACGAC
A
.
17
67826265
.
GACGACGACGAC
GACGACGAC
.
17
67826266
rs749305717
A
G
.
17
67826267
rs758332344
C
G,T
.
17
67826268
rs779918027
G
T
.
17
67826269
rs746951735
A
G
.
17
67826271
rs768383666
G
C
.
17
67826274
.
GAC
AAG
.
17
67826276
.
C
G
.
17
67826276
.
CGAC
GGCT
.
17
67826278
rs781007882
A
C
.