General information of RDP00458 | |
---|---|
Gene Symbol: | NIPA1 |
RefSeq ID: | NM_001142275 |
Repeat coordinate: | chr15:22786678-22786702 (+) |
Repeat size: | 8 |
Repeat region: | intron |
Repeat unit: | CGG |
Repeat conservation: | PhastCons_score: 0.780; 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 |
Spastic paraplegia 6, autosomal dominant, 600363 (3) | 608145 | 15q11.2 |
Mapping repeat track to DisGeNET: | |||||
---|---|---|---|---|---|
Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) | NM_001142275 | 0.73 | 3 | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Mapping repeat track to ClinVar: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
22786677
193495
AGCG
A
.
15
22786677
412532
AGCGGCG
A
.
15
22786677
241881
AGCGGCGGCG
A
.
15
22786697
218839
C
G
.
Mapping repeat track to ExAC: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
22786671
.
TGCGGCAGCGGCGGCGGCGGCGGCG
T
1927902.10
15
22786671
.
TGCGGCAGCGGCGGCGGCG
T
32189.76
15
22786671
.
TGCGGCAGCGGCG
T
14712.83
15
22786679
.
C
T
5383.34
15
22786682
.
C
A,T
3263.33
15
22786685
rs181507534
C
T
11156.52
15
22786686
.
G
A
10863.45
15
22786691
.
C
T
15069.02
15
22786694
.
C
T
15296.03
15
22786697
rs864309628
C
T
32498.26
15
22786700
.
C
T
72764.30
15
22786701
rs758882039
G
GGCC
11361.55
Mapping repeat track to gnomAD: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
22786671
.
TGCGGCAGCGGCGGCGGCG
T
21956.84
15
22786671
.
TGCGGCAGCGGCGGCG
T
7230.24
15
22786671
.
TGCGGCAGCGGCG
T
3935.60
15
22786681
.
G
A
6447.99
15
22786694
.
C
T
8109.04
Mapping repeat track to Kaviar: |
---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
22786676
.
CAGC
C
.
15
22786677
rs531550505
AGCG
A
.
15
22786677
rs755160902
AGCGGCGGCG
A
.
15
22786677
rs781418106
AGCGGCGGCGGCGGCG
A
.
15
22786677
rs747339674
AGCGGCGGCGGCGGCGGCGGCG
A
.
15
22786682
.
CGGCGGCGGCGGCGGCGGCGGC
C,CGCCGCC,CGCCGCCGCCGCC,CGCCGCCGCCGCCGCCGCC,CGCCGCCGCCGCCGCCGCCGCCGCC
.
15
22786685
rs181507534
C
G
.
15
22786694
.
CGGCGGCGGC
C
.
15
22786700
.
CGGC
C
.
15
22786701
rs758882039
G
GGCC
.
15
22786702
.
G
GGCCGCC,GGCC
.